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Companion to
Clinical Neurology
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Companion to
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Clinical Neurology Third Edition
William Pryse-Phillips, MD, FRCP (Lond.), FRCP (C), DPM
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Professor of Medicine (emeritus) Memorial University St. John’s, Newfoundland, Canada
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2009
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Oxford University Press, Inc., publishes works that further Oxford University’s objective of excellence in research, scholarship, and education.
Oxford New York Auckland Cape Town Dar es Salaam Hong Kong Karachi Kuala Lumpur Madrid Melbourne Mexico City Nairobi New Delhi Shanghai Taipei Toronto
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With offices in Argentina Austria Brazil Chile Czech Republic France Greece Guatemala Hungary Italy Japan Poland Portugal Singapore South Korea Switzerland Thailand Turkey Ukraine Vietnam
Copyright 2009 by William Pryse-Phillips
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Published by Oxford University Press, Inc. 198 Madison Avenue, New York, New York 10016 http://www.oup.com Oxford is a registered trademark of Oxford University Press
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All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without the prior permission of Oxford University Press. Library of Congress Cataloging-in-Publication Data
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Pryse-Phillips, William. Companion to clinical neurology/William Pryse-Phillips. — 3rd ed. p. ; cm. Includes bibliographical references. ISBN 978-0-19-536772-0 (alk.paper) Neurology—Dictionaries. I. Title. [DNLM: 1. Neurology—Dictionary—English. 2. Nervous System Diseases—Dictionary—English. WL 13 P973c 2009] RC334.P79 2009 616.8003—dc22 2008043010 1
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Printed in the United States of America on acid-free paper
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Foreword
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In these days of publish-or-perish, novelty seldom rises above the flat sea of new reviews and books that simply confirm what’s already well known. Dr. Pryse-Phillips, however, has chosen a new tack and, in the process, brought us an astonishingly large, clinically oriented compendium of things neurological. In form, Companion to Clinical Neurology takes its place alongside such source references as the renowned and informative Oxford Companions. Its contents describe at varying length but with great clarity the phenomenological world of clinical neurology from its hesitant beginning over a century ago to its current vigorous strength. Ranging between brief, identifying sentences defining minor neurological facts to longer descriptions about diseases and their classifications, Pryse-Phillips depicts or explains neurology’s bygone leaders as well as its symptoms, signs, syndromes, diseases, eponyms, operative procedures, and diagnostic tests. In the breadth of its topics the book has a gently nostalgic, British-Continental flavor of a more relaxed scientific day. Nevertheless, it by no means ignores American sources or recent contributions, including genetic classifications. Certain features stand out. The Companion gives special attention to the clinical expressions and electrophysiological mechanisms of the epilepsies. The text also interestingly and informatively reflects Pryse-Phillips’ longstanding interest in neurology’s cognitive and behavioral aspects. But these are just a few of its extraordinary riches.
Did you, the reader, know that although Munchausen’s syndrome was named by Asher in 1951, the disorder’s content had been described by Meige in his graduation thesis (Paris) in 1893? Or that the condition has three synonyms and three subsets? I didn’t. Would you be surprised to find that ataxia has been defined in 41 different forms, or that it is included in 40 different identified syndromes? I was. These historic pearls and many others await the reader’s eye, whether to entertain as nightly pre-sleep browsing or to act as a sourcebook from which to identify past foundations of tomorrow’s neuroscience. Companion to Clinical Neurology provides a remarkably thorough, pithy view of the world of clinical neurology and its close co-disciplines. With well over 15,000 entries and 5,000 references, it successfully reflects the prodigious (and nowadays rare) scholarship of its author. Within these pages the novitiate will discover the past richness of clinical neurology, and experienced neurologists will find informative explanations about all kinds of common and arcane aspects of their discipline’s heritage. In short, Companion to Clinical Neurology provides the best compact source I know in which one can quickly refresh one’s memory about a fact well known or dig out a hitherto unknown item about the most philosophically and biologically interesting of all the medical specialties. FRED PLUM, M.D.
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Preface
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to the Third Edition
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Impatient to recall where I had put the reprints of published diagnostic criteria that I had occasionally culled from the literature for, e.g., Parkinson disease, motor neuron disease and a host of other conditions in order to reassure myself of the validity of my clinical diagnoses, I conceived 20 years ago a plan to incorporate all of them in a booklet that might eventually be published. But then I felt it would be of interest to add some background; to define also the terms that we clinical neurologists use, or at least meet in our daily practice; to reinforce understanding with a little history; and to indicate resources that a clinical neurologist might now and then need to consult. What started as a 75,000 word work has turned into this, because neurology is expanding explosively; and because it was such an interesting task to try to define the whole vocabulary of our trade.
In choosing entries, I have had to be selective. This book contains what I think that I should know (and certainly want to know) or a least be able to access quickly. Readers will identify omissions, obviously; the whole field of neurology is beyond the compass of one individual. I must have missed or rejected some potentially valuable entries, but this is a very personal book, without the benefit of co-authors or editors as to fact. I apologize for any perceived errors of omission or commission and again I offer it with the hope that it will inform and occasionally divert my colleagues and that it will assist them in the care of their patients. WILLIAM PRYSE-PHILLIPS St. John’s, Newfoundland, Canada January 2009
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The kind comments of those who wrote reviews of the first edition of my Companion delighted me. I am particularly pleased that what was written originally for my own use as a practicing clinical neurologist was also found appropriate by so many of my colleagues and I was further honored when Japanese colleagues called for an edition in their own language. The format of the book has not changed in this second edition. I have continued to list certain items twice if either of their two names seems likely to be the word or phrase that requires authentication, and have selected from some thousands of journal articles scanned only those definitions, criteria, or comments that were most meaningful to me. I have made comments that may not amuse the General Staff, but they come from where the action is: in the trenches. Advances in neurology are occurring at least as fast as in any other area of medicine and I recognize that in the year between the
delivery of my manuscript and its publication, new information will have been presented that will make some of my definitions passe´. I ask the reader’s forbearance. I also must restate the comment that I made in preparing the first edition of my Companion: ‘‘I have aimed [only] for reasonable completeness,’’ suitable for almost all (but of course not quite all) the situations that the clinical neurologist is likely to meet in which an authoritative definition is required. The decisions on what to include and to exclude were mine, based on my experience and my enthusiasms, so this is a very personal compilation, stemming from my insights (and sometimes probably the lack of them) into the neurology of today that rides upon yesterday’s shoulders. I offer it with the hope that it will inform and occasionally divert my colleagues and that it will benefit their patients. W.P-P.
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Preface
A confused and equivocal terminology is the fruitful parent of confused and equivocal thinking. —Sir Francis Walshe, 1947
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One of the most difficult tasks for the beginning neurologist is that of understanding the jargon of the subject. It has been estimated that over 20,000 new words are learned or at least interpreted by a mature physician; a high percentage of them must be used in neurology. Not only derivations from Latin and Greek, but also eponymous disorders, names of chemicals, acronyms, neologisms, and pet-names spill repeatedly from neurologists’ lips. Because they are not all widely known they often cloud meaning and impair communication, even though their original intent was to define, to categorize, or to distinguish concepts, clinical experience, or scientific truths. Who were all these people whose names are attached to syndromes or diseases or tests? How do dysphagia and dysphasia differ? Why isn’t Bell’s phenomenon the same as Bell’s palsy and why doesn’t it involve the long thoracic nerve of Bell? Is there common ground in the definition of criteria for this or that condition? Such questions are naı¨ve to an experienced neurologist, but need an answer when asked by students or by physicians who are not so trained, or by professional workers in allied disciplines. Companion to Clinical Neurology is a personal endeavour to provide answers to questions like these. I have tried to incorporate within it some science, some art, some history, some practical experience. It is also a hive in which there nest numerous bees formerly resident in my
bonnet and which needed more lebensraum. It is designed for the bedside and, I hope, for a reasonably low shelf in a room where a physician does his or her work. At least one reference is included for most of the entries delineating diseases, usually representing that publication on the subject which brought the material first to attention or one to which the interested reader may turn in order to receive more precise directions along the road to further knowledge; but in some instances it is to that paper on the subject which I most enjoyed reading. The Companion is designed as a guide wherein the menu of neurological practice is laid out and from which suggestions for further reading may be obtained. I have assembled what I believe to be the best published definitions of neurological phenomena, and where none is available, have provided a brief description of my own. This is not a treatise on differential diagnosis; only, when a word or a phrase is encountered which is not fully understood, I trust that it will have been given a definition here, and in certain cases, some background to assist memorization. My selection of items or names for inclusion has been on the basis of what problems I think a neurologist might expect to meet over the years of clinical practice. The major entry is in each case that name which I believe to be the one most commonly used, and therefore the most recognizable. Bracketed thereafter are synonyms also in recent use. Where words other than major entries are printed
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permutations of derived Latinisms, only a few of which appear. To save the bother of incessant turning of pages, brief summaries of some conditions are also included under their alternative names. In this Companion I have aimed for reasonable completeness, but realize that neurology is too large a subject for one head to contain. Among the readers of this book there will be many with special knowledge which could lead to improvements upon some of the definitions that I have attempted here; their offers of contributions would be accepted with delight and acknowledged with gratitude. W.P-P.
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in boldface, this indicates that the item is itself a separate entry; italics indicate foreign words, emphasis, journals, or variants not entered elsewhere. Where two or more authors have given their names to a condition, the reference given is to that paper first appearing, or occasionally to that which corrected the errors of the first with such dexterity that the alternate eponym is preferable—as with Jakob and Creutzfeldt. However, where usage of the two (or three or, God help us, more) names has led to numerous variations depending on the order in which those names are placed, only that combination which seemed to me to be the most familiar has been included. The same restriction applies to the seemingly endless
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Acknowledgments
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Over the years that I wrote the first edition of this book, many people gave me help and advice. In particular I was fortunate in being able to access the private collection of medical biographies compiled by the late Mr. Austin Seckersen, formerly of the Bodleian Library at the University of Oxford. His generosity greatly speeded the completion of the work. The initial writing was done during a sabbatical year from Memorial University. I thank Lord Walton, then Warden of Green College, and the late Professor John Newsom-Davis of the University of Oxford for providing me with a visiting scholarship at Green College and with membership of the Oxford Department of Neurology. Substantial assistance in the writing of the first edition was provided by Drs. Milton Alter, Peter Dunne, Roger Duvoisin, Joseph Foley, Andrew Kertesz, Wayne Massey, David Neary, Charles Poser, R. Mark Sadler, Patrick Sweeney, the late Professors P.K. Thomas and Anita Harding, and Mr. James Woodrow. Mr. Theo Dunnett of the Bodleian Library provided skilled help without limit in the location and selection of sources, particularly in the production of the illustrations in the second edition. Many corrections and additions were suggested by Dr. Homer J. Moore. To all I repeat my hearty thanks. In some instances an original reference was not available to me; I acknowledge again with pleasure (and with admiration) the work of Dr. Michael Baraitser and Dr. Robin Winter and their colleagues which led to the publication of the London Neurogenetic Database; this and the encyclopedic works of Dr. Victor McKusick and (through his superb Web site) Dr. Alan Pestronk provided me with data on, and analyses of, many disorders that I would otherwise failed to catalogue.
The transformation of the second to the third edition has required over a year of full-time effort, aided by the Internet and the assistance of scholarly peers. I wish to record again my debt to Dr. Alan Pestronk of Washington University, St. Louis, United States, for his generous permission to access and use the comprehensive material on his Internet site, mentioned throughout the text; to Dr. Chrysostom Panayiotopoulos of the University of London, UK for his similar permission to abstract entries from his masterly book Epileptic Syndromes and their Treatment; and to Professor George Ebers of the University of Oxford for his kindness in allowing me access to his personal library. I am also grateful to the reviewers of the two preceding editions, to many colleagues for their kind comments and suggestions and to Dr. Chern Lim, currently (2009) a senior resident in our neurology program, who assisted me greatly in the discovery and analysis of many of the Web sites listed here. I am most grateful to Dr. John Noseworthy, the American Academy of Neurology and Lippincott Williams and Wilkins for their generous permission to use material from Neurology; and to the American Academy of Sleep Medicine, the American Medical Association, the British Medical Association, the Canadian Journal of Neurological Sciences, Elsevier Science, the International Headache Society and Wiley-Blackwell Publications, the International League Against Epilepsy, the United States Government, and the World Health Organization for their generosity in the matter of fees for reproducing much or all of their copyrighted material. The entries here taken from the American Association of Neuromuscular and Electrodiagnostic Medicine’s Glossary of Terms in Electrodiagnostic Medicine 2001 are reproduced by their generous permission. Without all of this
Acknowledgments
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And I thank my family, Gwyneth, Amy, and Sam, for their continual support and for understanding the realities even of a retired academic life. WILLIAM PRYSE-PHILLIPS St. John’s, Newfoundland, Canada January 2009
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gracious support, another edition of the Companion would have been impossible to produce. Again, I offer my sincere thanks. I gladly acknowledge my debt to Oxford University Press (a not-or-profit publisher) and to my editors Craig Panner and David D’Addona for their confidence in the book and for enhancing it through their advice, their skills, and their gentle criticisms.
American Academy of Neurology American Academy of Neuromuscular and Electrodiagnostic Medicine American Academy of Sleep Medicine Acute disseminated encephalomyelitis acquired immunodeficiency disease Acute inflammatory polyneuropathy Dr. Andrew Kertesz American Sleep Disorders Association arteriovenous malformation benign positional paroxysmal vertigo Chronic daily headache chromosome Chronic inflammatory demyelinating polyneiropathy creatine kinase central nervous system compound muscle action potential Congenital muscular dystrophies cerebral palsy carnitine palmitoyl transferase computed (axial) tomography cerebrospinal fluid Dementia with Lewy bodies Diagnostic and Statistical Manual of the American Psychiatry Association electroencephalogram
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AASM ADEM AIDS AIP AK ASDA AVM BPPV CDH Chr CIDP CK CNS CMAP CMD CP CPTase CT CSF DLB DSM EEG
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Abbreviations
EDX EMG EWM FIRDA g GAD GTCS HWM h. Hz ICD-10 IASP ICHD IFCN ILAE JF LGMD MAG mg mm MOH MAOIs MNCV MRI NBIA
Electrodiagnosis electromyo(gram)graph Dr. E Wayne Massey Frontal intermittent rhythmic delta activity gram Glutamic acid dehydrogenase generalized tonic-clonic seizures Dr. Homer Moore hour Hertz (cycles/second) International classification of disease, version 10 International Association for the Study of Pain
International Classification of Headache Disorders International Federation of Clinical Neurophysiology International League Against Epilepsy (The late) Dr. Joseph Foley Limb Girdle Muscular Dystrophy myelin-associated glycoprotein milligram millimeter Medication overuse headache monoamine oxidase inhibitors motor nerve conduction velocity magnetic resonance imaging neurodegeneration with brain iron accumulation
Abbreviations used in this book
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Dr. R. Mark Sadler seconds sensory nerve action potential Single Photon Emission Computed Tomography short-latency somatosensory evoked potential selective serotonin reuptake inhibitor Vascular dementia Visual Evoked Potential Wechsler Adult Intelligence scale World Health Organization Wechsler Intelligence scale for Children
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RMS sec. SNAP SPECT SSEP SSRI VaD VEP WAIS WHO WISC
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NIH National Institutes of Health NINCDS National Institute of Communicative and Neurological Diseases and Stroke OCD Obsessive-Compulsive Disorder OED Oxford English dictionary PBI Protein boung iodine PDD Parkinson disease with dementia PME Progressive Myoclonic Epilepsy PNS peripheral nervous system QST Quantitative sensory testing RCD Dr. RC Duvoisin
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Clinical Neurology
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a AAAA syndrome See Allgrove
similar to that of an F wave, but the latency is more constant. Usually occurs before the F wave but may also occur afterwards. A band Dark, anisotropic, thick filaments It is thought to be due to extra discharges in muscle which with the I-bands make up a in the nerve, ephapses, or axonal branching. This term is preferred over axon reflex, myofibril. Upon them is a dark transverse axon wave, or axon response. Cf. F wave.19 M-line surrounded by a lighter H-zone. (From the 2001 Report of the Nomenclature A pattern deviation A nonparalytic Committee of the American Academy of Neuromuscular and Electrodiagnostic form of horizontal strabismus or tropia in Medicine and reproduced by kind which the visual axes are directed to closer objects (esotropia) as the subject looks up or permission of the Academy.) separate (exotropia) as the subject looks down. Thus the horizontal deviation of the A1, A2 electrodes The conventional visual axes varies with the vertical position of terms in electroencephalography for the eyes. See also V pattern deviation, which recording electrodes placed respectively on is the reverse of this. the left and right ears.
syndrome.
AB variant A form of gangliosidosis characterized by deficiency of GM2 activator factor, leading to the accumulation of GM2 ganglioside. See GM2 gangliosidosis.
Ab-related angiitis (isolated or primary angiitis of the nervous system, ABRA, granulomatous angiitis) An idiopathic relapsing, focal, necrotizing, giantcell angiitis of young or middle-aged adults, characterized by sterile inflammation of the small- and medium-sized intracranial, intraspinal, or intraocular vessels, exclusively. Clinically, severe headache, lethargy and malaise, confusion with hallucinations, nausea, vomiting, seizures, or myelopathic signs appear first, followed by multifocal neurological symptoms and signs. Fever, A test (Random Letter test) A simple test myalgia, and arthralgia are uncommon of vigilance in which the examiner reads out Ac electrode The conventional term in presentations, as is that with subarachnoid a random series of letters, and the patient is electroencephalography for a recording hemorrhage. Abnormal cell and protein electrode placed on the contralateral ear with required to tap on the table with a pencil levels in the (sterile) CSF, the arteriographic respect to any other electrode. whenever a specific letter such as ‘‘A’’ is finding of alternating areas of dilatation or spoken. constriction in any of the cerebral arteries, white matter hyperintensities on MRI, and Aase–Smith syndrome the proliferation of mesenchymal cells in A wave A compound muscle action A congenital dysmorphic syndrome the intima and adventitia or in all layers potential that follows the M wave, evoked characterized by cardiac and skeletal of the vessel wall, with giant cells seen consistently from a muscle by submaximal abnormalities, adrenal tumors, on leptomeningeal and cortical biopsy electric stimuli and frequently abolished by holoprosencephaly, Dandy–Walker specimens, allow the diagnosis.980, 5876 supramaximal stimuli. Its amplitude is malformation and hydrocephalus.25
Abadie, Charles A. The disorder is unlikely to be homogeneous; numerous etiologies may be responsible1314, 2728 and it has been reported in association with sporadic, amyloid ß peptide (Aß)-related cerebral amyloid angiopathy.5684 The following diagnostic criteria have been suggested:123 1. A clinical presentation with multifocal strokes or encephalopathy, with headache 2. Cerebral angiography shows changes consistent with vasculitis such as segmental stenosis, irregularity of smallor medium-sized vessels’ lumina, beading, and an aneurysmal appearance, as above 3. Systemic infection, neoplasm, and toxic exposure can be excluded 4. Leptomeningeal or cortical biopsy demonstrates vascular inflammation and excludes other (such as infectious or malignant) causes of vascular inflammation Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
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most common sign in that condition. See also Biernacki sign and Pitres sign, both of which are also typically positive in tabes.
abasia An inability to maintain an upright posture, as described with astasia by Blocq in patients with hysterical disorders.684
abasic gait apraxia A syndrome
French ophthalmologist who practiced in Paris. He described alcohol injection of the Gasserian ganglion for trigeminal neuralgia as well as the Abadie sign (Dalrymple sign), retraction of the upper lid as a result of contraction of the levator palpebrae muscles in hyperthyroidism.27
Abadie, Jean-Louis-Irene´e-Jean (1873–1946) French neurologist and psychiatrist who graduated with a thesis on the internal capsule and who became professor of nervous and mental diseases in Bordeaux. He described the Abadie sign in 1905; his other publications dealt with such topics as hysterical polyuria, epilepsy, tabes, and diabetes insipidus.
Abadie sign Loss of deep pain sensation, shown by insensibility to hard pressure upon the Achilles’ tendon in patients with tabes dorsalis; it was said to have been the third
1. Midline location, periumbilical, or poorly localized 2. Dull or ‘‘just sore’’ quality 3. Moderate or severe intensity
D. During abdominal pain at least 2 of the resulting from small hemorrhages into the following will be present: posterior internal capsule and/or putamen 1. Anorexia bilaterally, manifesting clinically as an 2. Nausea inability to maintain the upright stance or to 3. Vomiting walk, although the muscle actions 4. Pallor underlying these activities are unaffected when the subject makes the same movements E. Not attributed to another disorder while lying down.5782 From the International Classification of
Abbreviated Injury Scale An anatomic scale grading the severity of injury, developed by the Association for the Advancement of Automotive Medicine.2293
ABC syndrome (angry backfiring C-nociceptor syndrome) A fanciful term for In variant forms, the spinal cord is involved what is likely to be the complex regional pain syndrome. rather than the brain; or children are affected;3696 or uveitis, optic neuritis, or retinal vasculitis accompany the disease. Abdallat neurocutaneous See also isolated benign cerebral syndrome A congenital dysmorphic vasculitis, microangiopathic syndrome characterized by patchy encephalopathy (so-called; probably the depigmentation of skin and hair, spasticity, same as Susac syndrome), RED-M and sensorimotor peripheral neuropathy.381 syndrome. Abadie, Charles A. (1842–1932)
A. At least five attacks fulfilling criteria B–D B. Attacks of abdominal pain lasting 1–72 h (untreated or unsuccessfully treated) C. Abdominal pain has all of the following characteristics:
Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.
abdominal neuroblastoma See neuroblastoma.
abdominal pain–nerve entrapment syndrome Unilateral
segmental pain felt in the abdominal wall and due to entrapment of cutaneous nerves as they pass through its muscular layer, usually at the outer border of the rectus sheath. The origin of the pain is localized to a point abdominal epilepsy A nonconvulsive below the examining finger, and it is worsened by tensing the abdominal muscles, seizure manifesting as abdominal pain, vomiting, pallor or flushing of the face, and as with trunk flexion in the supine position. perspiration as the major manifestation(s) of abdominal paradox Inward a partial seizure in children.1699 It is movement of the abdominal wall during frequently associated with altered inspiration, as seen in some cases of consciousness and brief and simple automatisms. Coexisting EEG abnormalities neuromuscular disease leading to ventilatory include bilateral spike-and-wave, polyspike- failure. and-wave, low-voltage fast, and 10-Hz fast activity.72 abdominal (muscle) reflex Contraction of the rectus abdominis and other muscles of the abdominal wall in response to a abdominal migraine Recurrent attacks of abdominal pain, vomiting, pallor, tap on the muscle itself at its upper or lower and sometimes fever in school-age children end. The reflex is not always found in the normal subject but may be increased in who have a family history of migraine and patients with pyramidal lesions above T6. who, in many cases, later go on to develop Numerous sites for the elicitation of the more typical migrainous features.406 The pain is usually a diffuse burning or aching in reflex have been described, including the rectus periumbilical or epigastric regions and may abdominis lateral to the umbilicus, the nipple, the symphysis pubis, the anterior superior iliac have been preceded by well-recognized spine, the costal margin, or the thoracic wall. prodromal symptoms of migraine. The Another method described is to insert the following diagnostic criteria have been finger into the umbilicus and to tap it. defined:
abnormal involuntary movement scale
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abdominal (skin) reflex Contraction abductor laryngeal paralysis A
abiotrophic dementia See
of the muscles of the abdominal wall such that the umbilicus is drawn slightly toward the site of a gentle scratch of the overlying skin in any of the four quadrants. It was first described by Rosenbach in 1876. This represents a spinal polysynaptic reflex that is normally present, but it may be absent in pyramidal lesions at sites above T6, and in multiple sclerosis, because of diminished excitability of the spinal reflex center. It is seldom present after pregnancies, in the very obese, and in those who have had numerous abdominal operations. When the cord lesion is at T10, the reflex will only be present over the upper half of the abdomen. Further localization of a spinal cord lesion according to the presence of the reflex in upper, middle, and lower abdominal regions is of more theoretical than practical value.
Creutzfeldt–Jakob disease.
dominantly inherited congenital syndrome manifesting as hoarse voice and dysphagia.
abductor sign A modification of the Hoover sign in which the patient is asked to abduct the legs at the hips rather than to flex them, in order to detect nonorganic paresis of the leg by the presence of contralateral synergic movements.5953
Abercrombie, John (1781–1844) Scottish physician who published the first book devoted to the neuropathology of both the central and the peripheral nervous systems, in which he classified three types of apoplexy (1828). He was also the first to describe subdural empyema.
Aberfeld syndrome A recessively
inherited syndrome of myotonia, dwarfism, multiple joint contractures, facial Augmentation of the abdominal muscle dysmorphism, blepharophimosis, poor reflex with disappearance of the abdominal muscle development, and bone disease skin reflex; a sign of an upper motor neuron resembling Morquio–Brailsford disease. lesion above T6.
abdominal reflex dissociation
abducens (Lat, to lead away from) The
aberrant regeneration The
inappropriate redirection of fibers sprouting from a site of injury. This has been described most typically in compression of the third cranial nerve by an intracavernous meningioma. In this situation, retraction of the upper eyelid on abduction The movement by which part downward gaze or adduction of the eye, of the body is drawn away from the sagittal restricted upward movement of the globe, line or a digit is drawn aside from the medial and impairment of the pupillary light line of the hand. See also (ocular) duction. response are found.
sixth cranial nerve, described by Eustachius in 1564 and so called because it supplies the lateral rectus muscle which draws the eye to the side, away from the midline.
abduction nystagmus (ataxic nystagmus, internuclear ophthalmoplegia) A form of dissociated nystagmus in which the abnormal movement is seen in the abducting eye either exclusively or else far more obviously than in the other eye, which may fail to adduct normally. See internuclear ophthalmoplegia. abductor digiti quinti sign Slight abduction of the fifth finger on one side when patient with mild hemiparesis extend the arms out in front of them. When this is seen bilaterally, however, the sign has no significance. The phenomenon was noted by Wartenberg, but he ascribed it to cerebellar disease. The Souques sign, in which all the fingers are separated, is similar, as is the pinky finger sign.
abetalipoproteinemia (Bassen– Kornzweig syndrome) A recessively inherited, progressive ataxic syndrome of childhood or youth due to a deficiency of apoprotein B, which is an important factor in transporting lipids from the intestine to the plasma. The responsible gene is located at 4q24. The accompanying neuropathy is probably due to vitamin E deficiency. Clinically, the disease resembles Friedreich ataxia, with cerebellar signs, ptosis, ophthalmoplegia, and sensorimotor neuropathy, but in addition pigmentary retinopathy and steatorrhea are found, lowdensity lipoproteins are absent from the plasma, triglyceride and cholesterol levels and chylomicron counts are low, and acanthocytes are found in fresh smears.2754 See also cerebellar ataxias (variants), hypobetalipoproteinemia.
abiotrophy (Gr, lack of þ organism þ turn) A derivation of Sir William Gowers, this term signifies the cessation of growth of an organ. It is used to label a process whereby the previously normal metabolism of certain cell lines ceases, frequently as an age-related process. The word was first used by Gowers in his discussion of the spinocerebellar degenerations. Garrod AE. In The Inborn Factors in Disease (Oxford, Oxford University Press, 1931) described them as ‘‘maladies, inherited and obviously inborn, in which there are no obvious tissue defects at birth nor in early childhood, but in which there appear, at some period in early life, signs of a progressive disease.’’ Many hereditary cerebellar diseases, inborn errors of metabolism, neuropathies, and muscular dystrophies are included in this category and they form the basis of what Galton described as ‘‘the steady and pitiless march of the hidden weaknesses in our constitutions through illness to death.’’ Diseases labeled abiotrophic include Huntington chorea, adult-onset acid maltase deficiency, Parkinson disease, amyotrophic lateral sclerosis, and many more; but as the infective, genetic, or other etiologies of neurological diseases are progressively discovered, the blanket term seems to have less and less utility. Probably the last condition to warrant the name of abiotrophy will be such age-related changes as cortical cell loss resulting in memory impairment. able autism See Asperger syndrome. ablepharon Absence of the eyelids. In the most severe form, the skin of the forehead and the skin of the face are fused, but the condition may be incomplete or unilateral. Autosomal recessive inheritance has been shown in many cases.
abluminal Outside the lumen of a vessel, such as a blood vessel. abnormal illness behavior See hysteria.
abnormal involuntary movement scale A five-point scale for the evaluation of abnormal involuntary movements affecting the face and mouth,
abnormal swallowing syndrome the extremities, and the trunk, with an added global judgment of severity. The assessment is based upon a formal examination in which subjects remove their shoes and socks and sit with their legs apart, their feet flat on the floor, and their hands on their knees or hanging unsupported. Opening of the mouth, protrusion of the tongue, tapping the thumb with each finger as fast as possible, standing, extending both arms in front, walking, and alternate flexion and extension of the arms are then observed and the abnormalities rated between 0 (none, normal) and 4 (severe impairment). The muscles of facial expression, lips and perioral regions, jaw, tongue, upper and lower limbs, and trunk are examined separately, and a global assessment is made of the severity of any abnormal movements and of the incapacity which they induce.5136
abnormal swallowing syndrome Brief awakenings from normal sleep as a result of aspiration of normal secretions that have not been swallowed efficiently, leading to choking and coughing.2628, 1629 See also sleep disorders.
abortive disseminated encephalitis (Redlich encephalitis) See encephalitis lethargica.
About BFS A Web site providing information on benign fasciculation syndrome. Web site: http://www. nextination.com/aboutbfs/. abscess, cerebral A circumscribed collection of pus within the brain. The first accurate account of the phenomenon was that of Hermann Lebert (1813–1878), a French physician, in 1856, although Sauveur Morand (1697–1773), a French surgeon, is credited with a successful drainage procedure for temporosphenoidal abscess in 1752.5619 MacEwen performed the first modern procedure.3996 An historical review was published by Garfield.2284 See also epidural abscess, spinal subdural abscess.
absence epilepsy (petit mal epilepsy, centrencephalic epilepsy, minor motor seizures, myoclonicastatic seizures, myokinetic epilepsy, typical absence attacks, pyknolepsy) A seizure disorder in which the seizures consist typically of frequent brief (2–15 s) alterations in consciousness without motor
4
accompaniments apart from fluttering of the eyelids, automatisms, or association with myoclonic or atonic seizures (complex absences). In all cases there is an immediate return to normal activity and mentation at the end of the attack. In simple absence attacks, there is only impairment of consciousness, although simple and limited motor activity such as eyelid fluttering may occur. An hereditary tendency is notable in some families.3959, 1903 The original diagnostic criteria of the ILAE have been reviewed:767 1. A form of epilepsy with onset before puberty (childhood AE), or before age 17 years (juvenile AE) 2. Occurring in previously mentally and neurologically normal children 3. Absences are the initial type of seizures 4. Very frequent absence seizures of any kind, except myoclonic absences 5. Absence seizures are associated on the EEG with bilateral, symmetric, and synchronous discharge of regular 3/s spike-and-wave complexes with normal background activity. Less regular spike-wave activity is possible, when compatible with a diagnosis of typical absences.
Typical and atypical forms are recognized. In the typical form, the clinical manifestations are as above, and the EEG shows generalized, synchronous, symmetrical 2.5-Hz (or more) spike-and-wave or multiple spike-and-wave activity. In the atypical form (see atypical absences) such activity is at 2.5 Hz but with irregular frequency or asymmetrical voltage; clinically the duration is greater and abnormal interictal records, multiple seizure types including myoclonus and loss of postural tone, mental retardation, and developmental delay are all more common, while automatisms are less so. Atypical absences may also be associated with other EEG patterns including smallamplitude fast activity or rhythmic, highvoltage 10-Hz activity. Substantial overlap occurs between the two varieties. Myoclonic absences are seizures with myoclonic components that are rhythmic (2.5–4.5 Hz) clonic rather than truly myoclonic, and that have a tonic component. Absence status epilepticus occurs in elderly patients without a prior history of epilepsy. See also absence status. Distinctions have been made between childhood absence epilepsy and juvenile absence epilepsy. In the childhood form, the onset of brief spells occurring many times each day is before the age of 10 years, often
remitting in young adult life. The EEG features are as above. In the juvenile form the onset is before the age of 16 and brief spells occur infrequently, but tonic-clonic seizures are commonly associated. The EEG shows generalized polyspike-and-wave activity triggered by hyperventilation and remission of seizures is uncommon.4039 In further variant forms, myoclonic jerks, versive movements, or atonic periods are associated, in which case the tendency for the typical or complex absence attacks to cease at puberty is not manifest. Generalized tonicclonic seizures may also occur in patients with typical absence attacks,2968, 2968 as may myoclonus. The term was first employed to describe temporary mental confusion by LouisFlorentin Calmeil (1798–1895), a French physician, in his graduate thesis on epilepsy. See also childhood absence epilepsy, Dravet syndrome, epilepsy with continuous spikes and waves during slow-wave sleep, epilepsy with myoclonic astatic seizures, frontal lobe epilepsies, generalized epilepsies with febrile seizures plus, epilepsy with myoclonic absences, perioral myoclonia with absences, idiopathic generalized epilepsy with phantom absences, idiopathic photosensitive occipital lobe epilepsy, idiopathic reading epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, Jeavons syndrome, LennoxGastaut syndrome, Landau-Kleffner syndrome, myoclonic status in nonprogressive encephalopathies, photosensitive epilepsy, reflex seizures and related epileptic syndromes, self-induced seizures, television epilepsy.
absence status (petit mal status, spikewave stupor, nonconvulsive status, minor status) An epileptic syndrome characterized by clouding of consciousness, apathy or stupor with fluctuating confusion, interspersed with atonic or myoclonic head nods, fluttering of the eyelids or slight erratic myoclonus of the face or segments of the limbs, lasting from hours to days. These behavioral changes are accompanied by generalized continuous or near-continuous EEG abnormalities, usually comprising complexes of spikes and slow waves occurring at 3 Hz (2.5–6 Hz) and representing a change from the usual interictal EEG pattern. Incoordination resembling that of cerebellar ataxia may also occur. The condition is usually found
accommodation
5
Lesions of the dominant frontal or parietoin subjects with pre-existing generalized occipital lobes are responsible. He´caen2825 epileptic syndromes, such as the Lennox– Gastaut syndrome. See also twilight states, defined three forms: status epilepticus, complex partial status. Aphasic acalculia. Impaired comprehension In a variant form, similar features appear in and writing of numbers, due to a lesion of adults without any pre-existing seizure the dominant hemisphere. disorder, and they show rhythmic irregular Visuospatial acalculia. Defective alignment of numbers and of arithmetic grammar, with spike-wave discharges on the EEG.6279
absent muscles The congenital absence of certain muscles such as the pectoralis, serratus anterior, latissimus dorsi, trapezius, supraspinatus, or thenar muscles. The more usual deficiency of the right rather than of the left pectoralis is unexplained. See Souques syndrome.
retained comprehension of the numbers themselves. Anarithmic acalculia. An inability to comprehend numeration and the principles of mathematics, often accompanied by other evidence of dominant hemisphere lesions. See also anarithmia.
acanthamoebocytosis Infection
with acanthamoeba polyphaga, usually acquired from swimming in infected pools. interval following depolarization of a nerve The neurological complications include or muscle during which it cannot be excited meningoencephalitis. by further stimuli.
absolute refractory period That
acanthocytes (Gr, thorn þ cells) Red cells with a spiky outline, seen only in fresh discern the meaning or signification of ideas. blood smear preparations. The ability to think in nonrepresentative rather than in concrete terms, to form acanthocytosis The presence of concepts, use categories, generalize from a single instance, apply procedural rules, and acanthocytes (spiky red cells) in the blood; a distinguish the properties of a part from the finding in abetalipoproteinemia, familial hypobetalipoproteinemia, amyotrophic mass of the whole. chorea with acanthocytosis, HARP Abul Quasim Arabian physician of the syndrome, Hallervorden–Spatz disease, tenth century whose writings contained the mitochondrial cytopathies, Wolman disease, and the McLeod first known account of experiential phenotype.2750, 6054 See hallucinations in epilepsy. neuroacanthocytosis. abulia (Gr, without þ will) A state in which the patient manifests lack of initiative acatalasemia A peroxisomal disorder and spontaneity in normal consciousness. An without neurological features. apathetic blunting of feeling, drive, mentation, and behavior exists such that all acataposis (Gr, not þ to swallow) actions are performed only slowly and after a Dysphagia. delay. Clinically, it is a sign of lesions such as a tumor affecting the under side of the frontal acceleration injury (cervical acceleration injury) A complicated pain lobes, bilateral lacunar strokes, or normal 4333 syndrome resulting from sudden movement pressure hydrocephalus. of the head and neck in relation to the rest of the body. The older term, whiplash injury, Academy of Neurological and though more evocative, has now been Orthopedic Medicine and Surgery A professional society. Address: superseded in the scientific literature (as has 522 Rossmore Drive, Las Vegas, NV 89110. railway spine), but not here.
vehicle accident. The underlying pathology, if any, is not determined.
accelerator nerves The sympathetic nerves to the heart.
accessory nerve The eleventh cranial nerve, so named by Thomas Willis in his Cerebri Anatome (1664) because he realized that it receives additional fibers from the C2–3 spinal roots. accessory nerve palsy A focal motor neuropathy causing weakness and wasting of the sternomastoid and/or trapezius muscles. The most common cause is surgical trauma at the time of lymph node biopsy; blunt trauma is etiologically less common.588
accident neurosis See disability neurosis.
accommodation 1. In neuronal physiology, a rise in the threshold transmembrane depolarization required to initiate a spike, when depolarization is slow or a subthreshold depolarization is maintained. In the older literature, the observation that the final intensity of current applied in a slowly rising fashion to stimulate a nerve was greater than the intensity of a pulse of current required to stimulate the same nerve. The latter may largely be an artifact of the nerve sheath and bears little relation to true accommodation as measured intracellularly. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.) 2. In the older literature, accommodation was used to describe the observation that the final intensity of current applied in a slowly rising fashion to stimulate a nerve was greater than the intensity of a pulse of current required to stimulate the same nerve. The latter may largely be an artifact of the nerve sheath and bears little relation to true accommodation as measured intracellularly. 3. (ocular) The process whereby the lens changes its shape to refract more, and the pupil constricts as the eyes converge in order Tel: 702-452-9538. to improve the focusing of objects at a short acceleration injury syndrome range. Retinal blur is diminished and (as in acalculia Difficulties in reading, A post-traumatic syndrome of persistent the case of cameras) the smaller aperture writing, and comprehending numbers and in neck pain, headache, dizziness and improves the depth of focus. The power of calculating, usually accompanied by an disequilibration, impaired concentration, inability to copy (acopia). The condition was irritability, and emotional lability following accommodation decreases with age because of decreased power of the ciliary muscle and described and named by Henschen in 1919. such an injury, usually caused by a motor abstraction ability The ability to
accommodation curve decreased elasticity of the lens. The phenomenon was first described by Thomas Young (1773–1829), an English physician, at the age of 20 years.
accommodation curve See strength-duration curve.
accommodative effort syndrome Blurring of images with persisting near fixation, due to impaired ocular divergence with a normal near point for accommodation and convergence, and with an esophoria during near vision which is relieved by plus lenses.5205
6
acetylcholine deficiency A variant
Achilles tendon The gastrocnemius syndrome of childhood myasthenia gravis, in tendon inserting into the calcaneum, so which a deficiency of acetylcholine at the named because of the association with nerve terminals is due to a defect in Achilles’ heel. resynthesis at that site.2787 The fable underlying the nomenclature is that the mother of this Greek hero held him by the heel when dipping him into the river acetylcholine receptor Styx, a procedure conferring invulnerability deficiency A recessively inherited to all those parts touched by the water. The myasthenia-like syndrome characterized by a heel was not protected and it was a wound to marked deficiency of acetylcholine receptors this region delivered by his enemy Paris that and presenting clinically as bulbar, limb, killed him. In these days of flourishing and ocular muscle weakness from infancy neuromythology, it is unwise to scoff at this and electrically marked by small miniature kind of story. 1361 end-plate potentials.
Achillodynia (Albert disease, Swediaur disease) Pain in the heel due to Achilles’ A rare variant syndrome of infantile accommodative insufficiency tendonitis. This was first described in 1893 myasthenia gravis in which the acetylcholine by Edward Albert (1841–1900), an Austrian Impairment of accommodation for near vision, as a result of congenital or acquired is not hydrolyzed after its release at the end surgeon.5619 plate, leading to prolonged depolarization causes; the latter include disorders both of potentials following a single achondroplasia A craniofacial the eye and of the central and the peripheral and repetitive stimulus.1876 nervous systems and muscles. dysplasia in which the formation of The clinical features resemble those of enchondral bone is also deficient. The other forms of myasthenia with weakness condition is dominantly inherited in 20% of acephalgic migraine (migraine and fatigability of the bulbar, extraocular, cases. The major clinical features are facial equivalent) The occurrence of a migraine and spinal musculature, but EMG studies aura without the succeeding headache, more reveal repetitive muscle action potentials in dysmorphism, dwarfism, tripod hands, and commonly seen in patients of advanced age. response to single nerve stimulation as well lumbar lordosis. See also Jeune syndrome and Ellis–van Creveld syndrome, which are Symptoms of cortical or brainstem as the usual decrementing response to similar. dysfunction occur, with gradual onset and repetitive stimuli. The condition was described by Parrot in are less than an hour in duration. In 1878, but in greater detail by Pierre Marie childhood, occipital seizures may cause the achalasia Failure of relaxation of any kind in 1880. same symptoms. See also aura, migraine of hollow tube, as in the case of degeneration without aura. A familial form has been of Auerbach’s plexus in the esophagus, which ACHOO See photic sneeze reflex. Unlike described.5793 leads to impaired esophageal contractions most others, this acronym should have won a presenting clinically as dysphagia or aceruloplasminemia A recessively vomiting. The condition usually occurs in prize. inherited syndrome affecting iron infancy.4397 Achor–Smith syndrome metabolism manifesting as cerebellar ataxia, A syndrome of acute skeletal muscle early dementia, involuntary movements, degeneration with profound weakness in the retinal dystrophy, and diabetes, with absence achalasia and microcephaly A congenital syndrome characterized by this setting of prolonged nutritional deficiency of ceruloplasmin in the plasma.3896 As a manifesting features of pernicious anemia, result of such Cp ferroxidase deficiency the disorder of esophageal motility, with sprue, and pellagra, complicated by acute accompanying microcephaly and mental and subject is unable to oxidate the ferrous to the diarrhea resulting in hypokalemia and severe developmental delay.381 ferric form of iron.6193 renal insufficiency. acetylcholinesterase deficiency
acervuli See psammoma bodies. acesis (from Gr, to heal) A cure. acetylcholine Acetyl trimethyl-acetyl-ethylammonium hydroxide, a transmitter substance liberated from terminals of the vagus nerve (Otto Loewi, 1921), from parasympathetic synapses, and from motor nerve endings (Sir Henry Dale, 1933, 1936).
Achard–Foix–Mouzon syndrome Reduction of the number
achromasia (Gr,. lack of þ color) The impaired uptake of chemical stains by cells of lumbar or sacrococcygeal vertebrae usually undergoing chromatolysis. associated with a conus medullaris syndrome and sometimes causing leg achromatic Having or producing no weakness as well.43 color; a term applied to those lenses which cause no color dispersion. achee See akee. achromatopsia (Gr, lack of þ color þ Achilles reflex (triceps surae reflex) The eyesight) (color blindness, cortical or central ankle jerk.
achromatopsia) An acquired disorder of color
acquired hepatocerebral encephalopathy
7
perception involving all or part of the visual field, with preservation of vision for form. The retinal color receptors are not affected. The condition is frequently associated with visual agnosia and with a field defect. It is caused by focal damage to the visual association cortex or its subjacent white matter.1430 See also dyschromatopsia, cone dystrophy. In a variant form, the same problem is inherited as an X-linked deficit.
acid albumen turbidity test A screening test for the detection of mucopolysaccharides in blood or urine.
acid maltase (d 1,4- and d
acoria (aplestia) Inability to attain satiety acoustic reflex Contraction of the after eating.
Acosta disease See acute mountain sickness.
acoustic EMG (AMG; acoustic myography) A record of the sounds emitted by muscles during their contraction as a result of mechanical vibrations set up within the muscle. The mean frequency of the sounds increases in parallel with the contractile force derived. The technique is used in monitoring fatigue and force of contraction and in the control of prosthetic devices.422, 19
1,6-glucosidase) A lysosomal enzyme which acoustic myography See acoustic hydrolyzes glycogen, maltose, and other EMG. oligosaccharides to yield free glucose, deficient in glycogen storage disease type II due to a defective GAA gene. acoustic neuroma A benign tumor of the vestibular portion of the eighth cranial nerve, and actually a Schwannoma. It was acid maltase deficiency first described by Cushing in 1917,1390 and A syndrome of muscle weakness with it accounts for 5–10% of all intracranial respiratory difficulty due to lymphocyte tumors. -glucosidase deficiency. See glycogen Clinically, hearing loss, tinnitus, and storage diseases. dysequilibrium lead on to headache, incoordination, and imbalance, involvement acid phosphatase deficiency of the adjacent cranial nerves, and eventually A recessively inherited syndrome of intermittent vomiting, hypotonia, lethargy, symptoms of increased intracranial pressure and bulbar symptoms. The use of and opisthotonus, with death in early infancy, due to deficiency of lysosomal acid computerized axial tomography, magnetic resonance imaging and brainstem auditoryphosphatase.4570 evoked responses in the diagnosis of the condition has been reviewed.2785 acidemia See organic acidemia. Relevant Web sites are http://www.ucsf. edu/nreview/06.4-Oncology-Histological Ackerman’s angle A measurement at Type/AcousticNeuroma.html, which details the skull base, considered characteristic in the epidemiology, pathology, and clinical encephalocele and hydrocephalus but not features of this condition, the Australian now in use. It was described in 1882 by Konrad Ackerman (1825–1896), a German Acoustic Neuroma Association NSW Inc. pathologist who was a professor at Rostock. http://www.acousticneuroma.com.au/. See also Acoustic Neuroma Association and Acoustic Neuroma Association of Canada.
acne fulminans with inflammatory myopathy
A syndrome characterized by the sudden onset of severe ulcerative acne on the chest, back, and face, associated with fever and leukocytosis and accompanied by pain in the pelvic girdle muscles with wasting, myalgia, and arthralgia but with normal serum creatine kinase levels.4711
acopia Difficulty in making a copy on paper from a printed or written text, regardless of whether reading is affected or not.
Acoustic Neuroma Association A charitable organization in this field. Address: 600 Peachtree Parkway, Suite 108, Cumming, GA 30041. E-mail:
[email protected]. Web site: http://www. anausa.org.
stapedius muscles bilaterally in response to a loud sound, recorded by measuring the acoustic impedance in the ear. The quietest sound producing such a contraction is known as the acoustic threshold; it is elevated in lesions of the cochlear nerve, but also with VII cranial nerve or middle ear disease.
acoustic startle reflex Violent muscle jerks (e.g., in the biceps muscle) following an unexpected sound stimulus, as in stiff person syndrome and hyperekplexia, and also in some patients with stroke or spinal cord injury. acoustic threshold See acoustic reflex.
acousticomotor seizures See startle epilepsy.
acousticopalpebral reflex See palpebral reflex.
acquired central alveolar hypoventilation A syndrome of hypoventilation occurring during sleep, typically related to bilateral posterolateral medullary lesions, which are most often vascular occlusions.1616
acquired epileptic aphasia See Landau–Kleffner syndrome.
acquired fixation nystagmus See acquired nystagmus, fixation nystagmus. acquired generalized repetitive myoclonus An atypical generalized whole-body tremor syndrome actually due to repetitive low-amplitude myoclonus (polymyoclonus) as shown by the absence of true periodicity on surface electromyography. Clinically, the onset of tremor or gait disturbance is usually subacute, in middle life. Surface EMG shows nonperiodic muscle bursts lasting less than 50 ms as is typical of myoclonus. Causes include autoimmunity and drug-induced toxicity.4240
acquired hepatocerebral Acoustic Neuroma Association encephalopathy (portosystemic of Canada A charitable organization. shunt encephalopathy, non-Wilsonian Address: P.O. Box 369, Edmonton, Alberta, hepatocerebral degeneration) A cerebral degenerative disease complicating chronic Canada T5J 2J6. Tel: 403-428-3384. liver failure and producing a syndrome of Web site: http://www.anac.ca.
acquired horizontal jerk nystagmus drowsiness, impaired memory, ataxia, dysarthria, asterixis, choreoathetosis, and progressive dementia. The pathological hallmarks of the disorder are the presence of plump (Alzheimer Type II) astrocytes in the striatum, cortex, and dentate nucleus and of spongy changes in the third cerebral cortical layer in laminar distribution. The condition was described by Victor and Adams in 1965, although F. Morel had noted a similar condition in 1939.4471 A variant condition is early childhood hepatocerebral degeneration, in which progressive liver disease (the Huttenlocher variant of Alpers disease) and brain disease are manifest by recurrent partial, secondarily generalized seizures followed by mental and motor regression. The liver disease is exacerbated by valproic acid administration.617 In another variant form, the clinical appearances are those of Wilson disease, but the metabolic disorder affecting copper is distinct.2421 See also non-Wilsonian extrapyramidal disease.
acquired horizontal jerk nystagmus The most common form of acquired nystagmus, subdivided between vestibular and gaze-evoked or gaze-paretic forms.
8 HIV encephalopathy HIV myelopathy Acute atypical meningitis Acute sensory neuropathy AIDS radiculopathy See also HIV-associated conditions.
acrocephalopolysyndactyly The acquired inflammatory demyelinating polyneuropathies Inflammatory demyelinating diseases of the peripheral nerves and nerve roots, often with extensive secondary axonal degeneration and resulting from immunological disturbances. Acute (acute inflammatory demyelinating polyneuropathy), chronic (chronic inflammatory demyelinating polyneuropathy), and dysproteinemic or paraneoplastic (gammopathic neuropathy) forms are described.101
acquired mutism A condition of complete absence of speech that is not associated with other aphasic symptomatology or alteration of consciousness. See mutism, cerebellar mutism. acquired myotonia See idiopathic neuromyotonia.
acquired pendular nystagmus A rare form of horizontal, vertical, or acquired immunodeficiency syndrome (AIDS) Infection with the rotatory nystagmus in any plane with a human immunodeficiency virus (HIV), a lentivirus which causes systemic and neurological disease, the latter by primary infection, malignancy, or through opportunistic infection. The various neurological syndromes produced have been classified as in Chart A–1 below:6416, 4200 Chart A–1. Neurological Complications of Acquired Immunodeficiency Syndrome Opportunistic infection
quasi-sinusoidal form. It can be monocular or asymmetric. The phases are similar in duration in each direction, as a result of which there is no ‘‘jerk’’ component. It leads to complaints of blurred vision with oscillopsia and is often associated with a head tremor. The usual causes are cerebellar or brainstem disease, most likely due to vascular or demyelinating pathologies.2574 It is also a feature of the syndromes of oculopalatal myoclonus,308 Whipple disease, and drug toxicity.26
CNS toxoplasmosis Cryptococcal meningitis Progressive multifocal leukoencephalopathy Herpesvirus infections
acquired slow-channel syndrome See myasthenia gravis.
Malignancy
acquired verbal auditory agnosia with convulsive disorder See Landau–Kleffner
Primary CNS lymphoma Systemic lymphoma Primary Infection AIDS-related dementia (See HIV encephalopathy)
unusual facial appearance, mental retardation, absent corpus callosum, duplication of the halluces, and mental retardation.4624 Macrocephaly and clinodactyly are also common, and hyperreflexia with hypotonia is usual.5609
syndrome.
acrocallosal syndrome (Nelson syndrome, Schinzel syndrome) A dysmorphic syndrome characterized by
combination of cranial vault abnormality with polysyndactyly. At least four forms are differentiated379 Type I (Noack syndrome, Pfeiffer syndrome) A (dominantly inherited?) syndrome of acrocephaly, large toes with syndactyly, and brachydactyly of the toes and sometimes of the fingers. Type II (Carpenter syndrome) The combination of acrocephaly, polysyndactyly, short stature, obesity, mental retardation (usually), and congenital cardiac defects.5341 Type III The combination of acrocephaly, syndactyly of fingers and toes, and other skeletal abnormalities.5507 Type IV A congenital dysmorphic syndrome characterized by acrocephalopolysyndactyly and craniosynostosis.379
Hootnick–Holmes syndrome is a further variant form characterized by webbed fingers, polysyndactyly, and craniostenosis.2979 See also acrocephalosyndactyly, Apert syndrome.
acrocephalosyndactyly Dominantly inherited syndromes characterized by the occurrence of both tower skull and fusion of digits. The distinction between some of the syndromes that follow may be artificial.379 Type I See Apert syndrome. Type II Probably the same as Apert syndrome. Type III (Saethre–Chozen syndrome) A congenital dysmorphic syndrome characterized also by low frontal hairline, ptosis, facial asymmetry, and soft-tissue syndactyly of the hands.612 Type IV (Waardenburg syndrome) A rare congenital dysmorphic syndrome characterized by genital, digital, and cardiac anomalies; acrocephaly; and craniosynostosis.6251 Type V (Pfeiffer syndrome) A rare congenital dysmorphic syndrome characterized by acrocephaly, hypertelorism with normal intelligence, and soft tissue syndactyly of the hands.4127 See Pfeiffer syndrome.
Other variants without CNS findings are recorded.379 See also Carpenter syndrome.
action myoclonus–renal failure syndrome
9
acrocephaly (Gr,. pointed þ head) A developmental defect in skull shape such that the anteroposterior diameter is reduced, the occiput is flattened, and the forehead is high, as with fusion of both of the coronal or of all the cranial sutures. See also Crouzon syndrome. acrodermatitis chronica atrophicans (Hopf syndrome) A chronically progressive dermatological disease in young adults, probably of tick-borne spirochetal origin and leading to widespread livid blue-red discoloration of the skin and later dermal atrophy.2983 It is often complicated by an asymmetric sensory polyneuropathy.4711
acrodermatitis enteropathica See subacute myelo-optico-neuropathy.
acrodynia (Gr, the extremities þ pain) 1. See Pink disease. 2. The distal limb pain felt in nutritional neuropathies and in ergotism. The term is now seldom used.
acromegalic neuropathy An uncommon, severe, debilitating, progressive peripheral neuropathy complicating hypothyroidism, with marked enlargement of the peripheral nerves and characterized by endoneurial hypertrophy and axonal degeneration.6055 Features of the carpal tunnel syndrome may be the earliest presentation.
Acta Neurologica Belgica (Acta Neurol Belg) A neurological journal. Address: Association des Socie´te´s Scientifiques Medicales Belgiques, 43 rue des Champs Elysse´es, B-1050 Brussels, Belgium. Web site: http://www.ulb.ac.be/medecine/loce/ Acta_Medica_Belgica/journal/Acta_ Neurologica_Belgica.htm.
Acta Neurologica Scandinavica acromial reflex Flexion of the elbow in (Acta Neurol Scand) A neurological journal. response to a tap on the coracoid or the acromion, present in upper motor neuron lesions affecting that limb5333 and probably resulting from transmitted vibrations rather than from direct stretch of any tendon.
Web site: http://www.blackwellpublishing. com/journal.asp?ref¼0001-6314&site¼1.
Acta Neuropathologica A neuropathological journal. Web site: http://link.springer.de/link/service/journals/ 00401/index.htm.
acromicria A skeletal deformity appearing in many congenital syndromes, characterized by smallness of the extremities. actin A structural protein in vertebrate muscles. acro-osteolysis with osteoporosis See osteopetrosis.
acroparesthesias Tingling sensations in the distal parts of the limbs, the classic dysmorphic syndrome characterized by short complaint of people with carpal tunnel syndrome but also voiced by some with stature, psychomotor retardation, sensory polyneuropathies. brachycephaly, thick calvarium, and hydrocephalus.5869 acroparesthesia syndrome See acrodystrophic neuropathy carpal tunnel syndrome. A sensory neuropathy causing painless plantar ulcers or trophic changes, often with acropathy Disfiguring damage destruction of the bones of the hands and sustained by the most distal parts of the feet. body—the digits, ears, and nose, for In this group are the hereditary sensory example. This is seen in many mutilating and autonomic neuropathies and some sensory neuropathies,6269 such as hereditary acquired neuropathies such as those due to sensory and autonomic neuropathies and leprosy, diabetes, and alcoholism.5502 leprosy, as well as with cord lesions
actin-related myopathy An unique limb girdle–type myopathy marked by F-actin and thin filament–containing plaques within muscle fibers.
acrodysostosis A congenital
acrofacial dysostosis See orofaciodigital syndrome II.
acrofacial syndrome See fetal hydantoin syndrome.
acromegalic myopathy A syndrome of mild proximal muscle weakness with elevated levels of serum creatine kinase and associated with hypertrophy of both type I and type II muscle fibers in patchy distribution,4155 sometimes seen in this condition of excess growth hormone production. In a variant form, muscle hypertrophy is the only abnormality.
action myoclonus (intention myoclonus) Brief, sudden, arrhythmic, fine or coarse myoclonic jerks followed by a period of inhibition, excited by willed movements and startle, affecting variable muscle groups but usually those activated voluntarily and leading to fragmentation of contraction. It is the characteristic finding in the LanceAdams syndrome.3660 See also myoclonus. action myoclonus–renal failure syndrome A recessively inherited
syndrome in which patients present in the second or third decades of life with renal failure and/or neurological features. It is interrupting pain pathways, such as characterized by severe progressive action syringomyelia. myoclonus on voluntary movement, a fine acrus The term of Hippocrates for the state finger tremor (likely a cortical tremor), ataxia, dysarthria, infrequent generalized of the body when it is at the height of its seizures, and renal impairment presenting well-being. with as proteinuria and progressing to renal failure due to a glomerulopathy and requiring acrylamide An industrial polymer used transplantation by the third decade. There is to form slurries. It is toxic to axons since it no mental involvement.188, 329 The EEG impairs the process of fast (bidirectional) shows spike and spike–wave complexes axonal transport, leading to dying-back syndrome indicating cortical 175 neuropathies. hyperexcitability as in cortical myoclonus. Effective treatment of the renal failure Acta Neurochiurgica A neurosurgical extends the lifespan but does not improve the neurological signs. See also uremic journal. Web site: http://link.springer.de/ encephalopathy. link/service/journals/00701/about.htm.
action myotonia
action myotonia Delayed muscle relaxation following voluntary contraction of the muscle. action potential (AP) The brief regenerative electric potential that propagates along a single axon or muscle fiber membrane. An all-or-none phenomenon; whenever the stimulus is at or above threshold, the action potential generated has a constant size and configuration. See also compound action potential, motor unit action potential. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.)
10 gangliosidosis) with the infantile onset of myoclonus, seizures, hypotonia and, later, spasticity, dementia, and death. A cherry-red retinal spot is present.5537 Adult (AB variant) A syndrome of adult-onset normal pressure hydrocephalus, seizures, and dementia with increased hexosaminidase A and B activity.379
also Katz Activities of Daily Living Scale, Physical Self-Maintenance Scale, Instrumental Activities of Daily Living Scale, and Functional Assessment Staging.
acuity A term expressing the efficiency of a
sensory pathway. It is most often employed in the realm of vision, with normal acuity being the ability to resolve an image at a active continence The maintenance of distance similar to that required by a normal population. Thus a visual acuity of 20/40 bladder outlet closure at rest through implies that the subject is only capable of increased reflex activity in the pudendal nerve, which causes increased activity in the resolving an image 20 feet away while the striated muscle around the urethra and thus normal is to do so when it is 40 feet away. Auditory acuity is also measureable, but increases the resistance to fluid flow. measurements of tactile acuity are complex active electrode (exploring electrode, and unresolved. input terminal 1, grid 1, G1) The recording action tremor 1. Physiological tremor electrode close to the source of the activity to acupressure (Gr, needle þ to press) accentuated by muscle contraction, as is seen be recorded. In EEG, the first of two inputs Formerly a method of arresting hemorrhage; currently the term is used for a system of both in normal subjects and in those with to a differential amplifier. [RMS] See also pain relief by digital or other pressure on Parkinson disease. 2. Any tremor on recording electrode. certain sites on a patient’s body, known only voluntary contraction of muscles, including to practitioners of the mystery. postural, kinetic, and isometric tremors.1615 active sleep A sleep stage in newborn See also cerebellar tremors. children, similar to REM Sleep. acupuncture An Oriental system of treatment of disease by the insertion and activated protein C resistance activities of daily living (ADL) subsequent rotation of long needles through factor (Leiden) A dominantly inherited The range of those behaviors which are the tautened skin; the insertions are made disorder due to a mutation at 1q23, resulting normally required for personal selfin an increased liability to stroke. maintenance and independent life within a along certain charted meridians. Acupuncture was introduced into England community. These activities are usually in 1683 by a Dr. Rhyne but was not accepted divided into two categories: activation 1. In physiology, a general until espoused by Berlioz in 1816. Since it is term for the initiation of a process. 2. The Physical ADL represents the most basic a method of alternative medicine, scientific process of motor unit action potential firing. personal care tasks such as feeding, evaluation is often rejected. The force of muscle contraction is excretion (bowels, bladder), toileting, dressing, cleanliness (grooming, bathing), determined by the number of motor units acusia (acousis) The faculty of hearing. and motility (transfers, wheelchair, and their firing rate. (From the 2001 Report walking, stairs). of the Nomenclature Committee of the acute Sudden, urgent, short-term, or Instrumental ADL embodies more complex American Association of Electromyography activities including handling of personal fast-appearing. 19 and Electrodiagnosis. Reproduced by kind finances, preparing meals, shopping, using permission of the AANEM.) the telephone, traveling, and housework.
activation procedure A technique used to detect defects of neuromuscular transmission during repetitive nerve stimulation testing. Most commonly a sustained voluntary contraction is performed to elicit facilitation or postactivation depression. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.) activator mutant A form of gangliosidosis with two variants: Infantile (AB variant) A disorder presenting similarly to Tay–Sachs disease (GM2
Items included within extended ADL include the following:393 Scores on ADL scales correlate well with scores on psychometric test batteries.2 See
acute abstinence encephalopathy An acute confusional
state occurring on withdrawal from a cerebral depressant agent which had been chronically ingested. Delirium tremens is an example.
Getting about
Household activities
Other activities
Carrying a hot drink Working outside Crossing roads Getting in/out of a car Using public transport Driving a car
Washing up Washing clothes Housework Shopping Making hot drinks/snack Reading Telephoning Writing
Gardening Managing money Going out socially Employment/Work Hobbies/leisure
acute compartment syndrome of the thigh
11
acute acquired postconvulsive hemiplegia See HHE syndrome.
meningitis, headache, long tract signs, and cranial nerve deficits.2951
acute autonomic neuropathy An uncommon syndrome, usually affecting healthy young people. Presentation is often dramatic with gastrointestinal involvement heralding widespread dysautonomia. Acute autonomic neuropathy can be primarily cholinergic without orthostatic hypotension (26%) or pandysautonomic (74%) involving acute alcoholic myopathy An acute syndrome of muscle pain, tenderness, sympathetic adrenergic functions. Onset has swelling, weakness, and wasting of proximal been temporally related to viral syndromes in muscles with myoglobinuria and consequent 20% of cases, with autonomic deficits usually evolving over 1–3 weeks. Gastroparesis (69%) renal failure,1831, 2829 following another and syncope (12%) are frequent presenting bout of excessive ingestion of alcohol by complaints. Spinal fluid protein levels are chronic alcoholics. Pathologically the condition is marked by often (75%) elevated in pandysautonomic myofibrillar degeneration especially of type subtypes. Prolonged and incomplete recovery 1 fibers. See also alcoholic myopathy, acute is the rule (60%), with persistent gastroparesis and orthostatic hypotension. hypokalemic myopathy of alcoholism. Other specific diseases that occasionally mimic acute autonomic neuropathy include acute amnestic syndromes See botulism, porphyria, amyloidosis, and Wernicke–Korsakoff syndrome. paraneoplastic neuropathies. Acute acute anterior poliomyelitis See autonomic neuropathy shares several clinical features with and is likely to be a variant of poliomyelitis. acute inflammatory demyelinating polyneuropathy, suggesting an immuneacute areflexic paralysis mediated pathogenesis.2786 See also A syndrome occurring in malnourished autonomic neuropathy. patients who become acutely
acute brain swelling See parainfectious noninflammatory encephalomyelitis, cerebral edema.
acute active multiple sclerosis
(Marburg variant) That form of multiple sclerosis characterized by extensive areas of confluent demyelination within the brainstem or spinal cord and leading to death within months of the clinical onset of the disease.
hypophosphatemic as a result of being fed with nutrients which do not contain phosphate. Clinically, initial paresthesias lead on to acute muscular weakness affecting the ocular and bulbar as well as the truncal and limb muscles; areflexia; sensory neuropathy; and ageusia. Central signs include somnolence or coma, confusional states, seizures and pyramidal signs. The serum phosphorus level is always below 1 mg/dl and the signs remit when the levels are raised.5841
acute ascending polyneuropathy See acute
acute axonal motor neuropathy
acute central cervical spinal cord injury Acute hyperextension injury to the cervical spine producing hemorrhagic necrosis of the central cord. See central cord syndrome. The resulting clinical syndrome is comprised of weakness (greater in the arms than in the legs), variable impairment of sensation below the level of the lesion, and urinary incontinence.5626 See also hematomyelia, Minor disease.
acute cerebellar ataxia 1. (Zappert syndrome, acute cerebellitis) An acute reversible cerebellitis following viral infections such as varicella or after immunization and presenting with truncal, gait, and limb ataxia and opsoclonus.2453 The prognosis for full recovery is good.1270 2. (Westphal–Leyden syndrome) An acute ataxic syndrome described in an adult by Leyden in 1891 and having both cerebral (cerebellar) and peripheral (sensory) forms.3824 The condition was thought not to be a toxic manifestation and may have represented a postinfectious or demyelinating disorder. It is not clearly distinguished from Zappert syndrome.
See Chinese paralytic syndrome.
acute cerebellar degeneration
acute benign hydrocephalus
acute cerebellitis See acute cerebellar
A pan-cerebellar syndrome manifesting as ataxia and dysarthria in which there are no acute axonal motor neuropathy antibodies to Yo antigen nor to Purkinje with anti-GM1 antibodies cells and which is unassociated with and Campylobacter infection underlying carcinoma or other structural See immune-mediated neuropathies. disease.5382
(Marie–See syndrome) Idiopathic intracranial ataxia. hypertension occurring in children as a result of the excessive ingestion of vitamin A.
acute cerebral schistosomiasis
An acute encephalitis or encephalomyelitis presenting with personality change, neuralgic amyotrophy. angioneurotic edema, and pyramidal signs but progressing to coma with seizures. acute ataxia See acute cerebellar ataxia. acute brachial plexitis See neuralgic Marked peripheral eosinophilia is detected. amyotrophy. The condition may be a form of allergic encephalopathy.6858 See also chronic acute atrophic paralysis A defunct cerebral schistosomiasis. acute brachial plexopathy See name for poliomyelitis. neuralgic amyotrophy. inflammatory demyelinating polyneuropathy.
acute brachial neuropathy See
acute atypical meningitis A manifestation of the initial direct infection acute brain stem (Bickerstaff) encephalitis See disseminated of the meninges or brain with HIV and presenting a self-limited syndrome of vasculomyelinopathy.
acute compartment syndrome of the thigh A potentially devastating disorder due to damage to neural and vascular structures as a result of acute
acute confusional migraine swelling of the thigh muscles following severe (or sometimes not severe) trauma.5676 Compartment syndromes may occur wherever muscles are overlaid by fascial coverings. The anterior tibial syndrome is the best known, but other sites include the supraspinatus, anconeus and forearm muscles, the abdomen, and the posterior thigh and foot.
acute confusional migraine (dysphrenic migraine) An agitated and confused state lasting minutes to hours and occurring occasionally in children (and even less commonly in adults) with a personal or family history of migraine. The confusional episode is not itself accompanied by headache, however.2295
acute corticosteroid myopathy An acute necrotizing myopathy associated with the use of corticosteroids with or without neuromuscular junction blocking agents, occasionally seen in patients in intensive care. See acute quadriplegic myopathy.
acute delayed measles encephalitis A chronic progressive encephalopathy occurring 3 months after an attack of measles and characterized by high antimeasles antibody levels, the presence of intranuclear inclusions in glial and neuronal nuclei, destruction of the ependyma, hydrocephalus, and clinically intractable epilepsia partialis continua and coma.3978 See also subacute sclerosing panencephalitis.
acute dialysis encephalopathy See dialysis encephalopathy.
acute dialysis neuropathy An asymmetrical sensorimotor neuropathy (an acute multiple mononeuropathy) considered to be caused by ischemia due to vasoconstriction, occurring in patients with chronic renal failure undergoing dialysis.4346 acute disseminated (demyelinating) encephalomyelitis (ADEM, post- or parainfectious encephalomyelitis, acute perivascular myelinoclasia) A monophasic immune-mediated demyelinating disease of the CNS that typically follows a febrile infection or a vaccination. Children are predominantly affected. This monophasic, postinfectious or postvaccinial autoallergic, inflammatory, and
12
demyelinating encephalopathy has major effects upon the white matter of the cerebral hemispheres, cerebellum, optic nerves, and spinal cord in response to antigenic challenge. It is characterized pathologically by the presence of perivascular mononuclear cell infiltration in the brain and spinal cord, edema of the white matter, and variable perivenous and confluent demyelination with relative preservation of axons.6253 The name was first applied by C.F. Westphal in 1872, but the condition was defined pathologically by Hurst only in 1941.3059 Clinically it is manifested by the acute onset of fever, seizures and altered consciousness, meningismus, headache, nausea, and vomiting, with developing evidence of widespread CNS damage such as bilateral optic neuritis and other cranial nerve palsies, visual field defects, aphasia, hemiparesis, seizures, and cerebellar ataxia, all developing days or weeks after a viral or streptococcal infection or other immunologic challenge.108 MRI studies reveal multifocal areas of increased signal intensity on T2 weighted sequences, enhancing with contrast, in both white and gray matter. In most cases the course is monophasic and recovery occurs with steroid therapy, but recurrences occur in a third of patients5682 and the only way to make the differentiation is long-term followup. The cerebrospinal fluid may disclose a mild lymphocytic pleocytosis and elevated albumin levels. Oligoclonal bands are not always present in ADEM and if so, may be transient.4310 Vaccination-associated ADEM is most frequently observed after measles, mumps, or rubella vaccinations. However, it has also been reported after poliomyelitis and European tick-borne encephalitis vaccinations. Consensus definitions proposed for monophasic ADEM in pediatric populations3574 indicate that there should be an acute or subacute onset of a first clinical event with a presumed inflammatory or demyelinating cause affecting many brain areas, and thus polysymptomatic. The encephalopathy will be manifest by alterations in consciousness and behavioral changes such as confusion and irritability but improvement should follow, though clinical and MRI deficits may persist. There should have been no previous history of a similar event and there should nto be any other likely cause. It is recognized that the clinical and MRI findings may fluctuate over the course of the next 3 months.
In such cases, focal or multifocal white matter lesions are shown on MRI scans, without evidence of previous destructive brain disease. The T2 weighted or FLAIR images show large (1–2 cm) and multifocal lesions that are hyperintense; rarely a single white matter lesion and/or added intramedullary cord lesions may be acceptable for the diagnosis. The same authors define recurrent and multphasic ADEM as follows: Recurrent New event of ADEM with a recurrence of the initial symptoms and signs, in 3 or more months after the first ADEM event, without involvement of new clinical areas by history, examination, or neuroimaging. Event does not occur while on steroids and occurs at least 1 month after completing therapy. MRI shows no new lesions; original lesions may have enlarged. No better explanation exists. Multiphasic ADEM followed by a new clinical event also meeting criteria for ADEM, but involving new anatomic areas of the CNS as confirmed by history, neurologic examination, and neuroimaging.
The subsequent event must occur at least 3 months after the onset of the initial ADEM event and at least 1 month after completing steroid therapy. The subsequent event must include a polysymptomatic presentation including encephalopathy, with neurologic symptoms or signs that differ from the initial event (mental status changes may not differ from the initial event). The brain MRI must show new areas of involvement but also demonstrate complete or partial resolution of those lesions associated with the first ADEM event. When acute and fulminating with multiple intracerebral hemorrhages, the condition is known as acute hemorrhagic leukoencephalitis, Hurst disease, or Strumpell–Leichtenstern syndrome.6101 Hymenoptera (bee) stings can produce demyelinating complications in the central and/or peripheral nervous system resembling ADEM, presumably related to the autoimmune system. See also disseminated vasculomyelinopathy, brainstem encephalitis, Miller Fisher syndrome, multiphasic disseminated encephalomyelitis.
acute disseminated perivenous encephalomyelitis See acute disseminated encephalomyelitis.
acute dystonia of thalamic origin A lacunar syndrome.2092
acute inflammatory demyelinating polyneuropathy
13
acute encephalopathy of infancy the petechiae, resemble those of (fatal infantile mitochondrial disease) A fatal mitochondrial disease with Complex IV or cytochrome-c oxidase deficiency, presenting in neonates with hypotonia, vomiting, weakness, ptosis and areflexia with renal tubular acidosis and sometimes cardiomyopathy and lactic acidosis.379, 1653
experimental allergic encephalomyelitis. See disseminated vasculomyelinopathy. The condition may be dominantly inherited.4612 The condition is usually acute and fatal, but patients with slow progression and even with recovery have been described.3017 It was first described by Hurst in 1941 from Australia.
acute facial diplegia and acute hypokalemic myopathy of hyperreflexia See acute inflammatiory alcoholism An acute myopathy without polyneuropathy.
acute flexion-extension injury
muscle pain, tenderness or swelling, associated with severe hypokalemia within the context of alcoholism.5460
See whiplash; acceleration injury syndrome.
acute fulminant myoglobinuric polymyositis A form of polymyositis
acute illness myopathy See Hopkins syndrome, critical care myopathy.
distinguished from other forms by its extreme acute infantile hemiplegia The severity and by the presence of picornavirusabrupt occurrence of a brain infarct (usually 2236 like particles in the muscles. thrombotic in nature) in a previously healthy infant or child who lacks any predisposing acute headache attributed to condition. Coma, seizures and fever often result other head and/or neck trauma from the localized defect. The causes of the See post-traumatic headaches. condition have been reviewed by Golden.2444
acute headache attributed to whiplash injury See post-traumatic headaches.
acute hemiconcern A transient behavioral syndrome rarely following stroke involving the territory of the right anterior parietal artery, in which patients with profound left hemisensory loss persistently examine and manipulate the left side of their bodies with their intact right arm.707
acute hemiplegia of childhood Hemiplegia occurring in early childhood due to occlusive vascular disease or from unknown causes, as opposed to those cases in which trauma, heart disease, infection, sickle-cell disease, or other pathologies can be incriminated.5945 See also moya-moya disease.
acute infantile spinal muscular atrophy type I See hereditary motor neuropathy.
acute infectious torticollis An epidemic syndrome reported from China, characterized by the occurrence of nonspecific prodromal symptoms suggesting viral infection, followed by painful spasm of the neck muscles with head tilt, torticollis, tongue stiffness and spasm of other muscles including the oculomotor, lingual and oral muscles, and distant dystonia.4627
acute inflammatory demyelinating polyneuropathy
(acute ascending polyneuropathy, Landry– Guillain–Barre´ [–Strohl] syndrome, acute postinfective polyradiculoneuropathy, acute hemorrhagic acute plexitis, etc.; Jablonski3113 lists leukoencephalitis (acute necrotizing 21 synonyms) Forms of peripheral neuropathy of hemorrhagic encephalopathy, Hurst uncertain cause but with an immunesyndrome, Strumpell–Leichtenstern mediated pathology, characterized by syndrome) A form of autoallergic lymphocytic infiltration of the peripheral encephalitis following a viral illness in young adults, representing the most severe nerves and by destruction of myelin. The basis of the condition is the occurrence of form of acute disseminated aberrant immune responses directed against encephalomyelitis, in which there is components of peripheral nerve, likely inflammation within and around vessels following cytomegalovirus, Epstein–Barr with petechial hemorrhages, maximal in white matter. All of these features, excepting virus, HIV, or vaccinia virus infection.
Clinically this presents typically as an acute or subacute polyneuropathy with progressive motor weakness, areflexia, minor sensory changes and almost invariably some autonomic instability.2621, 3678 The face is often involved, and the eyes rarely so (except in the Miller Fisher variant). Antecedent events are often detected, these events typically including virus infections, surgery, trauma, malignancy, injection of sera and vaccines, or the presence of lymphoma or other malignancies, although in many cases there are no known preceding events. Symptoms reach their nadir in less than 3 weeks, but 80% of patients improve to some degree by 6 weeks. The CSF protein is frequently raised but the cell count is not (albumino-cytologic dissociation). The disease presents one of the classic ‘‘catch-22’’ dilemmas; those who respond best to plasmapheresis are also those whose signs have progressed rapidly over the first week, but the best response is obtained when this treatment is given in the first 7 days. Antibodies to GM1, GD1a, LM1, sulfatide and other glycolipids are variously detectable.6807 Descriptive clinical258 and electrodiagnostic101 criteria have been defined (but criticized by Poser5095) and some are reproduced in Chart A–2. The condition was first reported by Wardrop and Ollivier in 1834–1837 and then by Jean-Baptiste-Octave Landry (1826–1865), a French physician, who correctly concluded in 1859 that it is a disease of the peripheral nerves. Guillain and Barre´ added the CSF findings (‘‘dissociation albumino-cytologique’’ or Sicard–Foix syndrome) in 1891. Organizations devoted to this condition include the following: American Autoimmune Related Diseases Association A charitable organization in this field. Address: 22100 Gratiot Ave. Eastpointe, East Detroit, MI 48201-2227. Tel: 586-776-3900; 800-598-4668. E-mail:
[email protected]. Web site: http:// www.aarda.org/. Guillain–Barre Foundation International P.O. Box 262. Wynnewood, PA 19096. E-mail:
[email protected]. Tel: 610-667-0131. Web site: http:// www.webmast.com/gbs.
Proposed electrodiagnostic criteria for demyelination of peripheral nerve are included with the above, but are somewhat complex. A more recent and much simpler set88 is given in Chart A–3:
acute inflammatory demyelinating polyneuropathy
14
Chart A–2. Diagnostic Criteria for Guillain–Barre Syndrome (Acute Infectious Polyneuropathy) I. Features required for diagnosis A. Progressive motor weakness of more than one limb. The degree ranges from minimal weakness of the legs, with or without mild areflexia, to total paralysis of the muscles of all four extremities and the trunk, bulbar and facial paralysis, and external ophthalmoplegia. B. Areflexia (loss of tendon jerks). Universal areflexia is the rule, although distal areflexia with definite hyporeflexia of the biceps and knee jerks will suffice if other features are consistent. II. Features strongly suggestive of the diagnosis A. Clinical features (ranked in order of importance) 1. Progression. Symptoms and signs of motor weakness develop rapidly but cease to progress by 4 weeks into the illness. Approximately 50% will reach the nadir by 2 weeks, 80% by 3 weeks, and more than 90% by 4 weeks. 2. Relative symmetry. Symmetry is seldom absolute, but usually, if one limb is affected, the opposite is as well. 3. Mild sensory symptoms or signs. 4. Cranial nerve involvement. Facial weakness occurs in approximately 50% and is frequently bilateral. Other cranial nerves may be involved, particularly those innervating the tongue and muscles of deglutition, and sometimes the extraocular motor nerves. On occasion (less than 50%) the neuropathy may begin in the nerves to the extraocular muscles or other cranial nerves. 5. Recovery. It usually begins 2–4 weeks after progression stops. Recovery may be delayed for months. Most patients recover functionally. 6. Autonomic dysfunction. Tachycardia and other arrhythmias, postural hypotension, hypertension, and vasomotor symptoms, when present, support the diagnosis. These findings may fluctuate. Care must be exercised to exclude other bases for these symptoms, such as pulmonary embolism. 7. Absence of fever at the onset of neuritic symptoms. 8. Absence of manifestations of systemic illness or constitutional symptoms or both, either preceding or coinciding with onset of neuropathy. Variants (not ranked). The presence of one of these need not rule out the diagnosis if other features are strongly supportive, but the presence of two of them makes the diagnosis unlikely. 1. Fever at onset of neuritic symptoms. 2. Severe sensory loss with pain. 3. Progression beyond 4 weeks. Occasionally, a patient’s disease will continue to progress for much longer than 4 weeks or the patient will have a minor relapse. 4. Cessation of progression without recovery or with major permanent residual deficit remaining. 5. Sphincter function. Usually the sphincters are not affected, but transient bladder paralysis may occur during the evolution of symptoms. 6. CNS involvement. Ordinarily, Guillain–Barre´ syndrome is thought of as a disease of the peripheral nervous system. Evidence of CNS involvement is controversial. In occasional patients, such findings as severe ataxia interpretable as cerebellar in origin, dysarthria, extensor plantar responses, and ill-defined sensory levels are demonstrable, and these need not exclude the diagnosis if other features are typical. B. CSF features strongly supportive of the diagnosis. 1. CSF protein. After the first week of symptoms CSF protein is elevated or has been shown to rise on serial lumbar punctures. 2. CSF cells. Counts of 10 or fewer mononuclear leukocytes/mm3 in the CSF. Variants include the following: 1. No CSF protein rise in the period of 1–10 weeks after the onset of symptoms (rare). 2. Counts of 10–50 mononuclear leukocytes per cubic millimeter in CSF (common in patients seropositive for HIV, however). C. Electrodiagnostic features strongly supportive of the diagnosis (see below). Approximately 80% will have evidence of nerve conduction slowing or block at some point during the illness. Conduction velocity is usually less than 60% of normal, but the process is patchy and not all nerves are affected. Distal latencies may be increased to as much as three times the normal value. Use of F-wave responses often gives good indication of slowing over proximal portions of nerve trunks and roots. Up to 20% of patients will have normal conduction studies. Conduction studies may not become abnormal until several weeks into the illness. III. Features Casting Doubt on the Diagnosis A. Marked, persistent asymmetry of weakness B. Persistent bladder or bowel dysfunction C. Bladder or bowel dysfunction at onset D. More than 50 mononuclear leukocytes/mm3 in CSF E. Presence of polymorphonuclear leukocytes in CSF F. Sharp sensory level IV. Features that rule out the diagnosis A. Current history of hexacarbon abuse (volatile solvents; n-hexane; and methyl n-butyl ketone). This includes huffing of paint lacquer vapors or addictive glue sniffing.
acute inflammatory demyelinating polyneuropathy
15
B. Abnormal porphyrin metabolism indicating a diagnosis of acute intermittent porphyria. This would manifest as increased excretion of porphobilinogen and d-aminolevulinic acid in the urine. C. A history or finding of recent diphtheritic infection, either faucial or wound, with or without myocarditis. D. Features clinically consistent with lead neuropathy (upper limb weakness with prominent wrist drop; may be asymmetrical) and evidence of lead intoxication. E. Occurrence of a purely sensory syndrome. F. A definite diagnosis of a condition such as poliomyelitis, botulism, hysterical paralysis, or toxic neuropathy (e.g., from nitrofurantoin, dapsone, or organo-phosphorus compounds), which occasionally may be confused with Guillain–Barre´ syndrome The criteria have been established by an ad hoc committee of the NINCDS, Dr. A.K. Asbury, Chairman and are reproduced by kind permission.258
Chart A–3. Criteria for Electrophysiological Classification Normal Nondiagnostic Suggested
Normal nerve conduction studies Nonspecific or nonlocalizing abnormalities, including an isolated absent H reflex without definite demyelination Sural sparing pattern, or two or more nerves with absent or prolonged minimum F wave latency (with relatively normal distal seat and a peak amplitudes) and absent H-reflex Highly suggestive Sural sparing pattern and two or more nerves with absent or prolonged minimum F wave latency (with relatively normal distal CMAP amplitudes) and absent H reflex Definite Both signs of demyelination to be present in two motor nerves: 1. Focal slowing, temporal dispersion, and/or conduction blocks 2. Absent or prolonged minimum F-wave latency (with relatively normal distal CMAP amplitude) and with absent H reflex. The sural sparing pattern is defined as a normal or relatively preserved sural SNAPs compared with at least two abnormal SNAPs in the upper limb (median, ulnar, and radial SNAPs) About 5% of patients with this condition will show evidence of axonal damage.258,259 See also demyelination.
Variants of the usual clinical syndrome include Ataxia, areflexia, and facial diplegia acute facial diplegia and hyperreflexia Acute motor axonal neuropathy (AMAN) (An acute axonal form with a poor prognosis for recovery, often due to Campylobacter infection.)1979 Acute motor and sensory neuropathy (AMSN) Acute multiple cranial neuropathy Acute pandysautonomia Acute sensory neuronopathy Acute small fiber sensory neuropathy Distal acquired demyelinating sensory and motor neuropathy (DADS) Miller Fisher syndrome Multifocal motor neuropathy Polyneuritis cranialis AIDP occurring in the setting of Hodgkin disease.
A pharyngeal-cervical-brachial variant has the following diagnostic criteria suggested by Ropper et al.5387 and reproduced here by kind permission of Oxford University Press. Clinical Features 1. Paresthesias in the feet and hands 2. No weakness or respiratory failure 3. Areflexia or hyporeflexia in all limbs by 1 week
4. Distally diminished sensation involving mainly vibration and joint position 5. Proximal progression of numbness and sensory loss on the limbs over several days to 1 month 6. Improvement in paresthesias and sensory loss by 2–4 months from onset
Laboratory Abnormalities That Confirm the Diagnosis 7. Elevated CSF protein concentration (>45 mg/dl) within 3 weeks of onset 8. Severe sensory nerve conduction abnormalities 9. Minimal motor conduction and late response abnormalities
2. Paresthesias in the feet and hands 3. Areflexia or hyporeflexia in all limbs by 1 week 4. Progression of the above three features over several days to 1 month
Laboratory Abnormalities That Confirm the Diagnosis: 5. Elevated CSF protein concentration (>45 mg/dl) within 3 weeks from onset 6. Abnormalities of F waves in at least two limbs, or motor nerve conduction block, or slowing (motor nerve conduction velocity below 80% of normal)
Clinical Features Anti-GD1a and anti-GT1a antibodies 1. Progressive, relatively symmetric have been detected in some cases of this weakness in all limbs condition. 1. No paresthesias or sensory loss A pure motor variant has the following 3. Areflexia or hyporeflexia in all limbs by diagnostic criteria suggested by Ropper 1 week 4. Progression of weakness over 1 day to et al.5387 Reproduced by kind permission 3 weeks of Oxford University Press. Simpler clinical criteria for the typical syndrome (and variants) have been suggested Laboratory Abnormalities That Confirm the by Ropper et al.5387 and are reproduced here Diagnosis by kind permission of Oxford University 5. Elevated CSF protein concentration Press. (>45 mg/dl) within 3 weeks of onset Clinical Features 1. Weakness that is approximately symmetric in all the limbs
6. Abnormalities of F waves in at least two limbs or motor nerve conduction block, or slowing 7. Normal sensory nerve potentials
acute intermittent porphyria A paraparetic variant has the following diagnostic criteria suggested by Ropper et al.5387 Reproduced by kind permission of Oxford University Press.
16
acute intermittent porphyria
A dominantly inherited disorder characterized by deficiency of hydroxymethylbilane synthase (porphobilinogen deaminase) and Clinical Features manifesting episodes of acute abdominal 1. Progressive leg weakness over 1–3 weeks pain, vomiting, and porphyrinuria, 2. Areflexia or hyporeflexia in the legs by 1 sometimes with acute distal motor week of illness axonopathy. Exacerbations are triggered in 3. Normal (or virtually normal) power and most instances by exposure to environmental reflexes in the arms and cranial nerve triggers (barbiturates, dilantin, griseofulvin, innervated muscles sulfonamides, and estrogens; alcohol; 4. Minimal or no paresthesias or sensory infections; or starvation).5370 The loss responsible gene maps to 11q23.2-qter. Neurological features complicate a third Laboratory Abnormalities That Confirm the of attacks and include the acute or subacute Diagnosis occurrence of proximal motor neuropathy 5. Variable, usually slight, elevation of CSF affecting the arms more than the legs (often protein concentration asymmetrically) as well as the face and 6. Abnormal motor nerve conduction and autonomic system in the setting of other late responses in the legs features of the disease including dermal Acute facial diplegia and hyperreflexia6139 photosensitivity, limb, chest, and Acute motor conduction block neuropathy abdominal pain, vomiting, tachycardia, A form of pure motor neuropathy with hypertension, and often seizures. Delirium, conduction blocks, normal or brisk muscle psychosis, and neurotic behavior patterns stretch reflexes, and relatively fast are the abnormal mental features described, recovery.1002 as in the case of King George III of England. Acute ophthalmoparesis without ataxia A rare Sensory loss may be detected in the bathing form presenting with relatively symmetric suit area. The ankle jerks are preserved but ophthalmoparesis progressing over 4 weeks, all other muscle stretch reflexes are unaccompanied by ataxia or limb weakness. diminished. The condition usually follows an infectious Widespread central, peripheral, and illness. The CSF shows albuminocytological autonomic system lesions have been dissociation and anti-GQ1b IgG antibodies found.6115 are detectable in the serum.4751 Acute small fiber sensory neuropathy. 1. A pure sensory variant presenting with acute intrinsic myelopathy (acute acute numbness and burning dysesthesias transverse myelitis, acute necrotic myelopathy) An acutely developing spinal in a symmetric glove-and-stocking distribution in the limbs, with areflexia, cord lesion, involving both sides of the cord at one or more adjacent levels, ascending or normal muscle strength, and static, occurring at any age without prior electrophysiological evidence of neurological features and neither due to demyelinating neuropathy. The CSF compression nor surgery. The condition may protein levels may be raised. The condition increases for up to a month and remain at one level or may ascend through new levels of the cord. Onset in less than then slowly remits. (Oh et al. Neurology 2001;56:82–6) 2. A similar syndrome in 3 weeks of symmetrical motor and sensory which, however, there is evidence only of dysfunction referable to a distinct spinal cord level, with sphincter dysfunction, are thin sensory fiber involvement, the typical features. electrodiagnostic studies being normal, Typically, this occurs as a and the muscle stretch reflexes postinfectious autoimmune demyelinating retained.5727 AIP associated with mycoplasma pneumoniae condition, but ischemic infarction, bleeding from arteriovenous infection Also manifesting bilateral optic malformations, demyelinating disease, neuritis and extensive CNS white matter viral infections, and paraneoplastic lesions on MRI.4569 syndromes are also possible causes.6754 Facial diplegia Presents with ataxia and areflexia but with minimal limb weakness or See also acute necrotic myelopathy, acute toxic myelopathy. sensory deficit.1114
acute lethal catatonia Muscle rigidity with an increase in creatine kinase (CK) levels without involuntary movements or autonomic signs in subjects exposed to neuroleptic drugs. The condition represents a rare variant of the neuroleptic malignant syndrome, from which it cannot be distinguished clinically.54
acute midbrain syndrome See diencephalic autonomic seizures.
acute motor axonal neuropathy (AMAN) An axonal form of acute inflammatory polyneuropathy characterized clinically by rapid onset of weakness, an early nadir, distal weakness initially, relative sparing of cranial nerves, and occurrence mainly in summer. Many cases are associated with C. jejuni infection and the presence of IgG anti-GM1 antibodies, some of which may be crossreactive with lipopolysaccharides. AMAN may also occur following infusion of parenteral gangliosides, composed primarily of GM1. These disorders have been further subdivided on the basis of electrophysiology and pathology into acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN). Pathologic findings in AMAN and AMSAN include axonal degeneration of the affected nerves and the presence of periaxonal macrophages (in motor roots in AMAN and in motor and sensory roots in AMSAN). The cause is unknown. Campylobacter infections, present in many patients with AMAN and in other forms of Guillain-Barre Syndrome, may play a role in triggering such a process possibly by ‘‘molecular mimicry.’’1979, 4241
acute mountain sickness (Acosta syndrome) A clinical syndrome comprising of headache, insomnia, anorexia, nausea, dizziness, dyspnea, peripheral edema, vomiting, and incoordination, occurring between 6 and 24 h after attainment of high elevations, peaking on the second or third day and resolving after about a week. While it is usually self-limiting, the syndrome can progress to pulmonary and cerebral edema. It is hypothesized that the pathogenesis is increased cerebral blood flow causing cerebral edema as a result of hypoxia,
acute polymyopathy
17
which itself is due to improper or too rapid acclimatization.2666 See also altitude insomnia.
fulminant myoglobinuric polymyositis, acute quadriplegic myopathy, myoglobinuria, Hopkins syndrome.
acute multifocal placoid pigment epitheliopathy (AMPPE)
acute necrotizing encephalopathy A complication of
A rare, probably postviral condition that can be associated with neurologic problems, including headache, CNS arteritis, and sagittal sinus thrombosis.4734
infection with certain strains of influenza and other viruses presenting with high fever, seizures and alterations in mental status that rapidly progress to coma. Brain imaging may demonstrate acute multiple cranial symmetric white matter, thalamic, basal neuropathy A syndrome of complete or ganglia, and/or pontine involvement in partial ophthalmoplegia with bilateral facial which there is necrosis associated with and bulbar dysfunction, possibly a regional punctate hemorrhages. Permanent and (cranial) form of acute inflammatory severe disability or death often polyneuropathy.3982 result.4067
acute myelitis See acute intrinsic myelopathy.
acute necrotizing encephalopathy of childhood
A syndrome of coma, seizures, vomiting, hyperpyrexia, and hepatomegaly reported (myelomalacia) A form of acute intrinsic in Japanese children following acute myelopathy presenting with flaccid paralysis respiratory infections. The presence of and total sensory loss ascending over a few diarrhea and of raised CSF protein and the days from the legs to the thoracic regions or absence of hyperammonemia or higher with loss of sphincter control and hypoglycemia are considered to without recovery. Pathologically, the differentiate the condition from Reye condition is characterized by extensive syndrome.4417 necrosis of the white, more than of the gray, matter of a large part of the cord, without acute necrotizing hemorrhagic vascular disease or neoplasia but sometimes encephalopathy See acute 6754 with evidence of inflammation. hemorrhagic leukoencephalitis. Changes in the CSF are inconstant but may include an abnormally high protein content, either with few cells or with acute necrotizing myopathy of pleocytosis. intensive care See quadriplegic The condition is thought to be a form of myopathy. acute disseminated encephalomyelitis or of Devic disease but a similar syndrome may be acute nonsuppurative associated with carcinoma or tuberculosis encephalitis See parainfectious and with some toxic or infectious agents. noninflammatory encephalomyelits. It may also represent a postinfectious phenomenon.5099 See also subacute necrotic myelopathy. acute ocular oscillations See opsoclonus.
acute necrotic myelopathy
acute (and recurrent) optic neuritis See disseminated vasculomyelinopathy.
acute painful ophthalmoplegia A syndrome closely resembling superior orbital fissure syndrome but with frequent involvement of the optic nerve, reported from the Far East.6228
acute pandysautonomia See autonomic neuropathy (I).
acute peripheral vestibulopathy (vestibular neuronitis, labyrinthitis, neurolabyrinthitis) A clinical syndrome of vertigo and vomiting, falls, pastpointing toward the affected side, horizontal or rotatory direction-fixed spontaneous nystagmus toward the affected side and unilateral canal paresis with normal hearing. While it is usually supposed to have a viral origin affecting the eighth nerve and/or the labyrinth, pontine lesions can produce an identical syndrome.6295, 68
acute persistent akathisia A variety of chronic akathisia in which the abnormal movements appear shortly after institution of therapy with a neuroleptic agent, and which persist.945
acute phase shift of sleep See rapid time zone change syndrome.
acute plexitis See acute inflammatory demyelinating polyneuropathy. acute polioclastic encephalitis A form of encephalitis in which the gray matter of the cerebral cortex bears the brunt of the damage caused by the inflammatory process.
acute (necroticizing) myopathy A myopathy complicating infection with influenza A or B virus, coxsackie virus B5, echovirus 9, adenovirus 21, Epstein–Barr virus, or herpes simplex virus and presenting with lymphadenopathy, proximal myopathic weakness, muscle pain and cramp and myoglobinuria due to rhabdomyolysis. Biopsy shows phagocytosis and fiber necrosis. A similar myopathy may complicate carcinoma or alcoholism. See also acute
acute-onset lethargia and prolonged abulia A syndrome
acute polymyopathy A rapidly
progressive syndrome of proximal weakness, muscle pain, tenderness, and resulting from infarction of the genu of the swelling with elevated creatine kinase left internal capsule. See strategic-infarct levels. It is considered to be due to dementia, capsular genu syndrome, deficiency of essential fatty acids during multi-infarct dementia. prolonged total peripheral nutrition.6060 See also acute (necrotic) myopathy, acute ophthalmoparesis polymyositis. without ataxia See acute inflammatory acute polyneuropathy with edema. Beriberi in modern form.1465 demyelinating neuropathy (variants).
acute polyradiculitis
18
acute polyradiculitis See acute
acute rhabdomyolysis An uncommon acute necrotic myopathy occurring during various viral infections and causing muscle destruction with myoglobinuria. Clinically, muscle pain, acute posterior multifocal tenderness, weakness, and myoglobinuria placoid pigment epitheliopathy occur, sometimes complicated by renal A syndrome characterized by sudden, usually failure. See acute (necrotic) myopathy. binocular, blurring of vision, in which A similar but more limited syndrome multifocal yellowish-white lesions are seen occurs in association with unaccustomed in the pigment epithelium of the retina. The heavy exercise. See squat-jump disease, considered to be a manifestation of myoglobinuria and rhabdomyolysis. diffuse cerebral vasculitis, is usually selflimiting and visual function returns acute sensory (ataxic) eventually.2301 neuronopathy An acutely developing, monophasic, purely sensory neuropathy acute postasthmatic involving mainly large-fiber modalities in amyotrophy See Hopkins syndrome. the limbs and trunk with sensory ataxia and areflexia, and in which the underlying lesions are thought to be of the dorsal root acute postinfectious and Gasserian ganglion cells. The condition encephalomyelitis See acute is probably immune-mediated or due to disseminated encephalomyelitis. vascular causes in the absence of underlying carcinoma. The autonomic system may also acute postinfective be involved; occasionally, muscle stretch polyradiculoneuropathy See acute reflexes are preserved.4768 inflammatory demyelinating The syndrome has also been recorded polyneuropathy. following exposure to adriamycin, pyridoxine, mercury, and antibiotics and following infections with herpes zoster. The acute post-traumatic headache prognosis for recovery is poor.6038 inflammatory demyelinating polyneuropathy.
attributed to moderate or severe head injury See post-
traumatic headaches.
acute quadriplegic myopathy (acute necrotizing myopathy of intensive care, critical illness myopathy, thick filament myopathy, floppy person syndrome) A syndrome of severe, rapidonset diffuse myopathic weakness and wasting, complicating urgent steroid therapy, as in the course of treatment of acute asthmatic attacks, with or without the addition of nondepolarizing blocking agents in patients with severe systemic illness.2913, 6982 Typically, the clinical picture is of flaccid quadriparesis with ventilatory muscle involvement, marked wasting, and hyporeflexia. EMG findings are a mix of neuropathic, myopathic, and end-plate abnormalities. Muscle biopsy reveals severe atrophy of most muscle fibers, with disorganization and necrosis of myofibrils and selective loss of thick (myosin) filaments.2913 See also Hopkins syndrome and acute (necroticizing) myopathy.
acute serous encephalitis (Brown–Symmers disease) A rapidly progressive encephalopathy characterized by irritability, anorexia, vomiting, and evidence of raised intracranial pressure with bulbar signs in the form of respiratory irregularity. Ptosis, nystagmus, papilledema, convulsions, contraction of the angle of the mouth, muscle twitching, rigidity of the neck, hemiplegia, and coma lead on to death if affected children are not treated within 2 days.887 See parainfectious noninflammatory encephalomyelitis, acute disseminated encephalomyelitis.
acute severe combined demyelination The concurrence of Guillain–Barre´ syndrome and acute disseminated encephalomyelitis in acute and fulminant form, presenting with acute onset of coma and flaccid, areflexic quadriparesis, elevated CSF protein levels, and delayed F waves, with MRI evidence of extensive multifocal demyelination. Prompt clinical response followed by recovery may be
achieved by treatment with corticosteroids.182
acute sinus headache Headache and facial pain during an attack of acute sinusitis. See sinus headache. acute small fiber sensory neuropathy See acute inflammatory polyneuropathy.
acute superior hemorrhagic polioencephalitis The term of Gayet for what is now known as Wernicke– Korsakoff syndrome.
acute suppurative myositis (pyomyositis) Direct bacterial (or syphilitic) infection of muscle, with staphylococci, clostridia, streptococci, and anaerobes being the organisms most commonly isolated. Clinical findings include localized pain, tenderness, and swelling with systemic evidence of infection. The condition is uncommon in temperate regions, especially since paraldehyde is now seldom administered intramuscularly.
acute symptomatic seizures See situation-related seizures.
acute syphilitic meningitis A benign meningitic illness occurring in the secondary stage of syphilis but without fever, but often complicated by hydrocephalus or cranial nerve involvement. The CSF almost always shows abnormality. The illness usually occurs same time as the rash occurs and within 2 years of infection. Cerebrovascular syphilitic syndromes follow within years at most.
acute thalamic esotropia Adduction of one eye, which remains immobile while the other eye responds normally to vestibuloocular stimulation, in the presence of altered consciousness, long tract signs, and impaired upward gaze. The condition results from lesions of the contralateral posterior thalamus.2459
acute thyrotoxic encephalomyelopathy (Waldenstrom syndrome) An acute complication of hyperthyroidism, usually seen in the elderly, who present with sixth, seventh, and bulbar cranial nerve
Adams-Stokes-Morgagni syndrome
19
palsies, an hallucinatory psychosis with lethargy and apathy or excitement, and a variety of signs of cortical dysfunction. Eventually they slip into coma.6595 See also thyrotoxic crises.
acute thyrotoxic myopathy Rapidly progressive bulbar weakness complicating a thyroid storm (acute hyperthyroidism); a condition of uncertain nature, myasthenia, periodic paralysis, and encephalopathy also having been suggested variously as the underlying cause.
acute toxic encephalitis/ encephalopathy See parainfectious noninflammatory encephalomyelitis, disseminated vasculomyelinopathy.
acute toxic myelopathy An acute intrinsic myelopathy occasionally associated with intravenous illicit drug usage, spinal angiography, aortic angiography, intrathecal penicillin, or chemotherapeutic injections, or spinal anesthesia. See also lathyrism. acute transverse myelitis (idiopathic acute transverse myelitis) Suggested diagnostic criteria for this and for recurrent transverse myelitis require bilateral sensory, motor, or autonomic dysfunction referable to the spinal cord, with a clearly defined sensory level progressing to a nadir at between 4 and 21 days from onset. MRI must eliminate structural causes and reveal evidence of an inflammatory etiology. Also, evidence of an inflammatory origin must be shown by enhanced MRI or by CSF findings of pleocytosis or increased IgG levels.6264 For diagnostic confidence, there should be evidence of spinal cord inflammation as shown by CSF pleocytosis or elevated CSF IgG index and gadolinium enhancement on a spinal MRI. In children particularly, MRI assists diagnosis by showing that the cord involvement extends over six segments or more. In a variant form, unrelated to systemic disease, there is a relapsing course.5710 See also disseminated vasculomyelinopathy, acute intrinsic myelopathy.
spondylosis and canal stenosis as a consequence of direct compression of the spinal cord, which is trapped anteriorly by osteophytes and posteriorly by buckling of the hypertrophied ligamentum flavum. Clinically it presents with weakness in the arms but with preservation of strength in the legs. Patchy sensory loss and variable sphincter involvement are also described.1916 See also bodybuilder sign, Hirayama syndrome.
Clinical features variously include vomiting, coma, muscle weakness (lipid myopathy with cardiomyopathy), and mental retardation. Hepatomegaly, nonketotic hypoglycemia, myoglobinuria resulting from rhabdomyolysis, and dicarboxylic aciduria are usual laboratory features of these conditions.6015 Multiple acyl coenzyme A dehydrogenase deficiency is listed under glutaric aciduria type II.
acute vertical myoclonus Vertical, AD 8 A brief informant or patient
pendular, large-amplitude oscillations of the interview used to detect early dementia, eyes, occurring in some patients with recent correlating well with the MMSE and the brainstem strokes.3762 Clinical Dementia Rating Scale in differentiating nondemented from demented acute viral encephalitis Infection of individuals.2265 It is accessible at http:// the substance of the brain by a virus (such as alzheimer.wustl.edu/About_Us/PDFs/ herpes simplex, Epstein–Barr, mumps, AD8form2005.pdf/. influenza, Coxsackie, or echo), leading to disease which may be mild and transient or adacrya (Gr, without þ to weep) fulminant and lethal. Inability to form tears. Clinically, headache, hemiparesis, fever, nausea, drowsiness, coma, neck stiffness, Adamantiades-Behc¸et papilledema, seizures, and various other neurological signs are the commonest syndrome See Behçet syndrome. findings. The CSF may be under increased pressure; it contains mononuclear cells (and adamantinoma (Gr, hard mineral typically red cells in herpes encephalitis) but substance) See craniopharyngioma. the protein level may be normal. EEG abnormalities usually include generalized or Adamkiewicz, Albert (1850–1921) focal slowing, or bursts of spike-and-wave 3382 Polish professor of pathology at Krako´w. activity. Descriptions of more serious forms of the The artery of Adamkiewicz is a branch of the abdominal aorta, representing the major infection can be found at the Centers for segmental arterial supply of the spinal cord Disease Control Web site: http:// at that level, which it approaches close to or www.cdc.gov/ncphi/disss/nndss/casedef/ at L1, usually from the left side. encephalitiscurrent.htm/. Adamkiewicz also described the demilunes found beneath the neurilemma of acute Werdnig–Hoffman disease See hereditary motor neuropathy. medullated nerves.
acute-onset lethargia and prolonged abulia A syndrome resulting from infarction of the genu of the left internal capsule. See strategic-infarct dementia, capsular genu syndrome, multiinfarct dementia.
Adams, Robert (1771–1875) Dublin physician.
Adams-Stokes-Morgagni syndrome (Stokes–Adams syndrome)
Syncope of cardiac origin, the usual cause being complete atrioventricular block, acyl coenzyme A with bradycardia usually at a rate below dehydrogenase deficiency 40 per min.50 Morgagni’s original (1761) Recessively inherited mitochondrial diseases note in his De Sedibus et Causis Morborum (Letter the Ninth, which treats of epilepsy) in childhood, characterized by disorders of the short-, medium-, or long-chain forms of clearly describes seizures with cessation of acute traumatic central cord the heart beat, but Adams’ report was the enzyme. Medium-chain acyl coenzyme syndrome A clinical presentation most A dehydrogenase deficiency is perhaps the more precise in detail. Stokes published commonly seen in older people with cervical commonest disorder of fatty acid oxidation. his observations in 1846.
Adams syndrome
20
Adams syndrome (tachycardia and hypertension) A congenital syndrome characterized by microphthalmia, cataract, ECG abnormality, aminoaciduria, renal stones, hypertension, and seizures.381
semantic memory. The language component requires naming 12 line drawings, repetition of words and sentences, reading regular and irregular words, and comprehension and writing tasks. The visuospatial test requires adaptation 1. A decline in the response copying of overlapping pentagons (from to a repetitive stimulus. 2. A decline in the the MMSE) and of a wire cube, and frequency of the spike discharge as typically drawing a clock face. Verbal fluency recorded from sensory axons in response to a examines letter fluency for words beginning with the letter ‘‘P’’ and maintained stimulus.19 3. (Neuroophthalmology) Diminished responsiveness category fluency (animals). Scores for each of the six domains can be calculated of central mechanisms in response to a persistent abnormality disturbing function. separately; their sum gives a composite score out of 100. The MMSE score can Adaptation modifies the direct effects of a also be calculated. The instrument is neurological lesion; thus the nystagmus in published in 19 languages. It can be internuclear ophthalmoplegia reflects the reviewed as an appendix on the Neurology excessive innervation of the weak medial 4168 but is rectus with spill-over to the abducting eye. Web site (www.neurology.org) also available at http://pn.bmj.com/ Saccadic dysmetria and macrosaccadic oscillations occur in myasthenia gravis and supplemental/. with cerebellar lesions as adaptive changes Addison, Thomas (1793–1860) to weakness but become maladaptive English physician who trained in when strength returns temporarily in the Edinburgh but spent almost all of his Tensilon test. professional life as physician to Guy’s Hospital in London, where he showed adaptation rate The rate at which a particular interest in the skin and described sensory receptor reduces its afferent pernicious anemia, adrenal failure, discharge in response to a persisting xanthomas, vitiligo (Addison–Gull adequate stimulus. disease), morphea, and the use of electricity adaptive behavior The capacity of an in ‘‘spasmodic diseases.’’ individual to function with respect to the physical and the human environment. See also Vineland Adaptive Behavior Scale, Woodcock-Johnson Scales of Independent Behavior, Minnesota Child Development Inventory, Adaptive Behavior Scale.
Adaptive Behavior Scale A questionnaire used in the assessment of levels of functioning and maladaptive behavior in retarded people or those with acquired brain damage.4673
Addison disease The systemic disorder resulting from a deficiency of corticosteroid hormones as a result of adrenal disease. Neurological complications include a mild myopathy and a syndrome of idiopathic intracranial hypertension, with or without cerebral edema and encephalopathy.
Addison–Schilder disease See adrenoleukodystrophy.
adducted thumbs syndrome See Addenbrooke’s Cognitive Evaluation A short instrument for the Christian syndrome, craniosynostosis. early detection of dementia, usefully expanding the MMSE. It consists of six components evaluating orientation (10 points), attention (8), memory (35), verbal fluency (14), language (28), and visuospatial ability (5). The orientation and attention components are as in the MMSE. The memory component evaluates episodic memory (recall of three items from the MMSE plus a ‘‘name and address learning and delayed recall’’ test) and
lesion of the median longitudinal fasciculus (internuclear ophthalmoplegia).5919
adductor laryngeal breathing dystonia (Gerhardt syndrome) A rare task-specific dystonia in which the adductor spasm of the vocal cords occurs during inspiration but not while speaking (unlike spasmodic dysphonia in which the vocal cords adduct involuntarily during speech but function normally during breathing). Patients present with severe stridor with the risk of life-threatening respiratory obstruction. It can occur sporadically or as a manifestation of a drug-induced dystonia.
adductor reflex Adduction of the abducted leg in response to a tap on the medial epicondyle of the femur and, in cases of pyramidal disease, from many other sites on the pelvis, leg, and spine (spinal adductor reflex). It is a marker for lower motor neuron lesions at L2 and, like other muscle stretch reflexes, is increased in pyramidal tract disease. adductor reflex of the foot (Hirschberg sign) Stroking the inner border of the foot from the hallux back toward the heel leads to adduction, inversion, and plantar flexion of the foot due to contraction of the tibialis posterior in patients with pyramidal tract disease.
adductor spread of knee jerk See developmental reflexes.
Adelaide craniosynostosis A rare, dominantly inherited syndrome linked to chromosome 4p (see also craniosynostosis).
adenoma sebaceum (Bourneville disease) A papular skin lesion in tuberous sclerosis, first described in 1826 by Pierre Rayer (1793–1867), a French dermatologist, although Pringle had already noted the facial lesions.
adduction (from Lat, to lead toward) The adenylate deaminase deficiency movement by which a body part is drawn See muscle adenylate deaminase deficiency. toward the sagittal line or a finger moves toward the center line of the hand. See also (ocular) duction. adenylosuccinate lysase deficiency A rare disorder of purine synthesis in infancy or childhood with adduction lag A reduction in the multiple presentations including autism, amplitude and in the velocity of the hypotonia, psychomotor retardation, and (adducting) fast phase of jerk nystagmus seizures.1181 induced in the eye on the same side as a
21
adolescent familial cramps
adiaphoresis (Gr, lack of þ to throw off pupils showed denervation hypersensitivity to that substance. by perspiration) Lack of sweating. This pupillary phenomenon was reported by Piltz in 1899 and by at least three other Adie, William John (1887–1935) An adhalin (from Arabic, muscle) A 50-kd authors before Holmes and Adie55, 2960 each Australian neurologist who trained in dystrophin-associated glycoprotein reported it in 1931. The pupillary changes Edinburgh and in Europe before being (-sarcoglycan); a component of the are often combined with reduction or loss of appointed to the staff of the National sarcoglycan complex of the muscle cell the muscle stretch reflexes in the legs Hospital, Queen Square, and the Charing membrane. The disorders consequent upon (Holmes–Adie syndrome), as reported by Cross Hospital. During World War I, he was deficiency of the protein were first detected both authors57, 4997 and occasionally with in North Africa; hence the derivation of the mentioned in despatches for gallantry and anhidrosis or generalized weakness. for devising a temporary gas mask, term. consisting of clothing soaked in urine.2066 (However, a more acceptable gas mask was Adie Syndrome A Web site providing adhalinopathies data on this condition. http://www.ninds. invented by Dr. Cluny MacPherson, a (-sarcoglycanopathies) Unusual, nih.gov/disorders/holmes_adie/holmes_ Newfoundland physician.) heterogeneous forms of muscular dystrophy He wrote on a variety of subjects such as adie.htm/. characterized by deficiency of adhalin and narcolepsy (in his M.D. thesis), myotonic presenting clinically as severe childhood adiposis dolorosa See Dercum dystrophy, pituitary tumors, forced autosomal recessive muscular dystrophy grasping, and multiple sclerosis but is best disease. (SCARMD) resembling Duchenne remembered for his 1931 description55 of dystrophy in its clinical features and course the pupillary anomaly which bears his name, adiposogenital syndrome Arrest or but without involvement of the cardiac, delay in sexual development with obesity although he gave credit to colleagues for facial, ocular, or pharyngeal muscles. This and due to destruction of the tuberal nuclei having described it in 1902. However, the form has been mapped to chromosome of the hypothalamus. The cause of most cases first report was probably that of James 17q21 and is due to a primary defect of 5704 is not determined, but a craniopharyngioma Ware in a paper read to the Royal adhalin. In another form presenting as a is present in some cases. Society in 1812, and others since then had milder limb girdle muscular dystrophy, the also briefly noted the phenomenon. absence of adhalin is secondary to a separate adipsia A decreased sensation of thirst, defect on chromosome 13q12 or 4q12.92, Adie–Critchley syndrome Forced usually due to damage to the osmoreceptors 1940 See also quadriceps myopathy, severe grasping and groping in cases of tumor of the of the anterior hypothalamus, such that in childhood autosomal recessive muscular contralateral frontal lobe, described by these the presence of a high plasma osmolality dystrophy. there is an inappropriate lack of thirst and authors in 1927.56 Primary adhalinopathy may be a common water losses are not replenished by drinking. cause of autosomal recessive muscular The hypothalamic lesion may also cause a Adie–Holmes syndrome See Adie dystrophy of variable severity.5018 reduction in antidiuretic hormone secretion, pupil, Holmes–Adie syndrome. so that the problem of thirst is complicated by excessive water loss.192 Adie pupil (tonic pupil, pupillotonic adhesive arachnoiditis (chronic pseudotabes, Markus syndrome, pseudoidiopathic adhesive arachnoiditis) Chronic Argyll Robertson pupil, myotonic pupillary adjustment sleep disorder Sleep inflammation of the arachnoid membrane, disturbances temporally related to acute usually in lumbar regions, constricting the reaction, Saenger syndrome, Kehrer–Adie syndrome, iridoplegia interna, pseudotonic stress, conflict, or environmental change spinal cord, the nerve roots, and the blood pupillotonia) The condition in which one causing persistent emotional arousal. The vessels and leading to a slowly progressive complaints of insomnia or excessive ascending myelopathy or to multiple painful enlarged pupil (seldom both) reacts extremely slowly if at all to light but does sleepiness are related in time to an radiculopathies. constrict on prolonged accommodation and identifiable stressor and remit when the This condition was a complication of then remains persistently constricted after stress is removed or if adaptation to it myelography using oily contrast media, or the stimulus is removed. It is usually seen in improves. Polysomnography reveals an the injection of any foreign substance into increased sleep latency, reduced sleep the subarachnoid space, and also of syphilis young women. The lesion causing the partial denervation efficiency, or increased number and and chronic granulomatous diseases; but of the pupillary sphincter is in the ciliary duration of awakenings; a prolonged total these causes are now rare and when the condition is detected, commonly no cause is ganglion; it is diagnosed definitively by the sleep time; or reduced mean sleep latency on hypersensitivity of the pupil to 0.125% the minimum sleep latency test.1629 found. See spinal arachnoiditis. pilocarpine or 2.5% methacholine and is a benign condition which nevertheless disturbs adolescent familial cramps adhesive capsulitis of the the naı¨ve who look into a mirror and notice a A relatively benign X-linked recessively or shoulder See Duplay syndrome. single dilated pupil. Scheie had previously dominantly inherited myopathic syndrome introduced the methacholine test and Adie of adolescence, characterized by cramps concluded that the lesion was in the following exercise, elevated serum creatine adiadochokinesis See postganglionic parasympathetic fibers as the kinase levels, normal production of lactate by dysdiadochokinesis. adermonervia (Gr, lack of þ skin þ nerves) Loss of skin sensation.
adolescent stretch syncope muscle under ischemic conditions, and minimal weakness or wasting.2738 See cramps.
adolescent stretch syncope The occurrence of syncope when the subject stretches the trunk with the neck hyperextended, resulting from compression of the craniocervical arteries.6112
ADR syndrome (ataxia, deafness, mental retardation) See cerebellar ataxias, Richards Rundle syndrome. adrenal hypoplasia with mental retardation and muscular dystrophy See Renier syndrome. adrenergic receptors (adrenoceptors) Sites of the action of noradrenaline in the CNS. There are three types of receptor: alpha-1 (found in the cerebral cortex and thalamus), alpha-2, and beta.
adrenocorticotrophic hormone A peptide secreted by the hypothalamus, possessed also of functions within the CNS to do with task discrimination, approach– avoidance behavior, and memory.
adrenoleukodystrophy (Addison– Schilder disease, Siemerling–Creutzfeldt disease, sudanophilic leukodystrophy, melanodermic leukodystrophy, adrenoleukomyeloneuropathy, adrenomyelodystrophy; OMIM 300100) A group of progressive, X-linked recessive peroxisomal degenerative disorders of myelin (leukodystrophies), the responsible gene mapping to Xq28. They are characterized by a deficiency of lignoceroyl coenzyme A synthetase. The diagnosis is established by finding abnormal levels of very long chain (C26) fatty acids (VLCFAs) in the plasma, cultured fibroblasts, and brain,4514, 4513 for which a single peroxisomal deficiency is responsible. The abnormal VLCFA levels are considered responsible for interference with myelin formation, shown by the presence of severe myelinoclastic diffuse sclerosis not sparing the U fibers, especially in parieto-occipital regions. Axonal loss also occurs. Increased CSF protein levels, abnormal EEGs and nucleide scans, and the biochemical consequences of primary adrenal failure are also found.
22 Adult-onset forms Including adrenomyeloThe condition was first reported by neuroathy as above and other forms with Creutzfeldt in 1923, although Schilder had purely tract or lobar affection or with published reports of patients with various generalized cerebral involvement3595 other white matter diseases (some Asymptomatic forms6494 accompanying adrenal insufficiency) in The correct classification of the following 1911. The status of Schilder disease as a separate entity is uncertain; it may not exist. three conditions is uncertain: In the classical X-linked juvenile variety of Naidu variant A disorder characterized by adrenoleukodystrophy, the onset of neonatal seizures, hypotonia, hepatomesymptoms is in childhood or youth, with galy, hypsarrhythmia, and developmental delay, with elevated VLCFA levels but progressive spastic gait disturbance due to normal liver peroxisomes4578 myelopathy, often with neuropathy and Infantile sudanophilic leukodystrophy A dishypoadrenalism, sometimes with order resembling typical adrenoleukodyextrapyramidal or cerebellar signs, strophy beginning in infancy and demyelinating sensorimotor peripheral characterized by severe seizures and psyneuropathy, and unmyelinated fiber loss.2578 chomotor retardation.636 It resembles (and Intellectual functions are usually intact. This may be the same as) Zellweger syndrome, form may also present as hereditary spastic another peroxisomal disorder paraparesis. Neonatal adrenoleukodystrophy (recessive type) A In younger children with the X-linked congenital peroxisomal disorder in which multiple peroxisomal functions are defiform, progressive encephalopathy with cient, inherited in a recessive manner, and cortical blindness, dementia, deafness, characterized by frontal bossing, cataract, optic atrophy, and seizures are described; optic atrophy, pigmentary retinal degenthe same features may appear only later in eration, enlarged liver, adrenal hypoplasia, life in males and are sometimes manifested in dementia, seizures, nystagmus, cerebral female carriers. Isolated myelopathy and atrophy, diffusely increased skin isolated hypoadrenalism are other rare pigmentation, and hyperpipecolic phenotypes. acidemia.3372, 3371 Clinically, the features At least six different phenotypes are are almost identical with those of recognized: Zellweger syndrome, differing only in the Childhood cerebral ALD A variant characterized by rapidly progressive cerebral demyelination Adolescent cerebral ALD A phenotype which is similar but with slightly later onset age Adult cerebral ALD (OMIM 169500) A rare, dominantly inherited variant, sometimes presenting with psychosis Adrenomyeloneuropathy An X-linked metabolic defect in which deficiency of peroxisomal oxidation of VLCFAs leads to accumulation of these acids, especially hexocosanoate (C26:0) with a high C26/C22 ratio in plasma and fibroblasts. The gene locus has been mapped to Xq28. The condition is a clinically and genetically distinct variant of childhood adrenoleukodystrophy.2578 It presents as a syndrome of adrenal insufficiency beginning in youth or early adult life, with the later development of progressive spastic paraparesis in the third decade, hypogonadism, and distal, axonal, dying-back, symmetrical polyneuropathy with autonomic involvement (causing impotence and sphincter disturbances) beginning in early adult life. Cerebellar dysfunction, dementia, and hemiparesis are also described. X-linked Addison disease A phenotype without neurological involvement
milder involvement and longer survival of the affected infant (death ensuing at ages up to 10 years).5389 See also female adrenoleukodystrophy, Pelizaeus-Merzbacher disease.
adrenoleukomyeloneuropathy See adrenoleukodystrophy.
adrenomyelodystrophy See adrenoleukodystrophy.
adrenomyeloneuropathy See adrenoleukodystrophy.
Adrian, Edgar Douglas, Lord (1889–1977) English physiologist who was educated at Cambridge, where his neurophysiological studies included important research leading to the elucidation of the ‘‘all-or-nothing’’ response. He trained in neurology at the National Hospital and served in military hospitals during World War I, returning thereafter to Cambridge, where he devoted the rest of his life to studies of the electrical reactions of muscle and nerve, the physiology of the retinal receptors, the all-or-nothing response,62 receptor
adult polysaccharidosis
23
adaptation to stimuli (1926), the EEG, and the general principles of neural transmission, introducing many new investigative techniques including coaxial needles for electromyography. For these studies, he shared the Nobel Prize in 1932 with C.S. Sherrington. He was the first scientist to acknowledge and understand the significance of Hans Berger’s EEG work, which had been ridiculed as artifact by others, but which he confirmed and elaborated. He was made professor of physiology at Cambridge in 1937 and later became master of Trinity College, after that vice-chancellor, and then chancellor of the university. He was the president of the Royal Society from 1951 to 1955 and was raised to the peerage on relinquishing that position.
adult myoclonic epilepsy A syndrome of idiopathic generalized epilepsy in which myoclonic seizures beginning in adult life accompany absence or generalized tonic-clonic seizures. The family history is usually positive for seizures. The clinical examination and imaging studies are normal. The EEG shows generalized epileptiform abnormalities.2383
adult occult hydrocephalus See normal pressure hydrocephalus.
adult-onset absence epilepsy A syndrome of absence (and occasional tonic-clonic) seizures with onset in adult life, in which the EEG shows 3–4 Hz spike-and-wave discharges.4083
Adson, Alfred Washington
(1887–1951) American surgeon at the Mayo adult-onset cerebellar ataxia and sensory deafness (of Schimke) Clinic. See cerebellar ataxias (variants).
Adson syndrome (Naffziger syndrome) See thoracic outlet syndrome.
Adson test A maneuver for the diagnosis of vasogenic thoracic outlet syndrome. The subject leans forward with the neck extended and turned to one or the other side, and then inhales deeply. Elevation of the rib cage puts further pressure on the subclavian artery and thus reduces the radial pulse on the side to which the head is turned. However, the same occurs in many asymptomatic people, so the value of the test is unproven. Even the existence of the syndrome is disputed.64 The performance of a Valsalva maneuver during hyperextension of the neck is an alternative method of doing this test.
adult acid maltase deficiency See glycogen storage disease.
adult amaurotic idiocy See neurodegeneration with brain iron accumulation.
adult amylopectinosis See glycogen storage diseases.
adult cretinism (Gull syndrome) See myxedema.2635
adult familial myoclonic epilepsy See benign adult familial myoclonic epilepsy.
adult-onset dementia with argyrophilic grains A progressive
EEG shows spike-and-wave or polyspike– and-wave discharges.4083 See also FAME.
adult-onset primary lower limb dystonia The unsual occurrence of lower limb dystonia in adults (although childhood-onset dystonia typically begins in the foot). The most common patterns are plantar flexion of all of the toes and inversion of the foot, typically activated with standing or walking. Dystonia elsewhere is unusual. A family history of dystonia is unusual.5629 See also runners’ dystonia.
adult-onset tonic-clonic epilepsy A syndrome of tonic-clonic seizures occurring in adult life sometimes provoked by sleep deprivation or photic stimulation. Some attacks occur soon after waking. The EEG shows 4–5 Hz generalized spike-and-wave and polyspike-and-wave discharges, with bifrontal predominance.4083
adult polyglucosan body disease
A rare neurological disorder of unknown cause characterized by diffuse central and dementing disorder with clinical features peripheral nervous system dysfunction, indistinguishable from Alzheimer disease manifesting clinically as progressive upper but in which no tangles are found in the and lower motor neuron involvement of the cerebral cortex and with argyrophilic grains limbs, disturbances of the sphincters, staining positive with Alz-50 monoclonal sensory loss, and cognitive impairment. antibody.3107 Pathologically the condition is distinguished by the widespread adult-onset foot dystonia accumulation of polyglucosan bodies A rare form of localized dystonia, throughout the nervous system. Assay of sometimes occurring as a presenting leucocyte glycogen brancher enzymes may feature of Parkinson disease.3518 assist in diagnosis. The condition is considered to be adult-onset leukodystrophies See inherited as an autosomal recessive trait in which abnormalities of branching enzyme 18q syndrome, adrenoleukodystrophy, activity in white cells are implicated3917, Alexander disease, Canavan disease, 5343 but it is likely to be heterogeneous. Cockayne syndrome, Krabbe disease, metachromatic leukodystrophy, multiple sulfatase deficiency, Pelizaeus-Merzbacher Adult Polyglucosan Body disease, childhood ataxia with CNS Disease (APBD) Research hypomyelination, sudanophilic Foundation A charitable organization. leukodystrophies. Web site: www.apbdrf.org. Although most of these conditions more commonly start in childhood, all can adult polysaccharidosis A rare occasionally appear first in adult life.448 syndrome characterized by the intracellular accumulation of abnormal polysaccharides adult-onset myoclonic epilepsy resembling amylopectin in the form of cytoplasmic spheroids similar to those of Lafora A syndrome of myoclonus and occasional body disease but presenting in adult life. tonic-clonic seizures, often precipitated by sleep deprivation and alcohol, with onset in Clinically the condition starts with paraparesis, progressing to quadriparesis, sensory loss in adult life. The myoclonus affects only the arms, and occurs mainly in the morning. The the legs, dementia, and death.4983
adult proximal spinal muscular atrophy
adult proximal spinal muscular atrophy See hereditary motor neuropathy (variants).
adult spinal muscular atrophy See hereditary motor neuropathy, type IV.
Advances in Neurogerontology
fullness or pain in the ear, mild conduction deafness and vertigo.1765 (Adv Neurogerontol) A neurological subspecialty journal. Address: Praeger Publishers, 1 Madison Ave., New York, NY aesthesiometer An instrument for 10010-3603. measuring the sense of touch on the skin.
Advances in Neurology (Adv Neurol)
A neurological review book series. Address: advanced sleep phase syndrome Raven Press, 1185 Avenue of the Americas, (phase lead, phase advance, evening Department 1B, New York, NY 10036. somnolence, and early morning wakefulness) A syndrome of persistent and consistent Advances in Neuropsychology expedition in the times of sleep onset and of and Behavioral Neurology (Adv waking compared to the times that were Neuropsychol Behav Neurol) A neurological formerly normal for that patient, leading to journal. Address: Guilford Publications Inc., complaints of excessive evening sleepiness 72 Spring St., New York, NY 10012. and of early waking. Sleep architecture is normal.4823 In this disorder the major sleep adversive seizure A variety of partial episode is advanced in relation to the desired complex epilepsy in which there is tonic or clock-time, resulting in symptoms of clonic deviation of the head and eyes to one compelling evening sleepiness and an side with or without jerking of the arm on awakening that is earlier than desired. 1629 that side and the adoption of a raised, flexed Diagnostic criteria have been suggested: posture of that arm. Though formerly A. Inability to stay awake until the desired regarded as indicating that the origin of the bedtime or inability to remain asleep seizure is in the frontal lobe on the side from until the desired time of awakening which the head turns away, the localizing B. There is a phase advance of the major sleep value of the sign is now questioned. episode in relation to the desired time for sleep C. Symptoms are present for at least 3 months. D. When not required to remain awake until the desired (later) bedtime, patients will
24
aesthesioneuroblastoma (olfactory neuroblastoma) See neuroblastoma.
afebrile occasional seizures Simple or complex motor seizures occurring as a symptom of underlying brain disease and not recurring after the underlying cause is no longer operating. The list of causes includes intracranial infections or other encephalopathies, metabolic diseases, and head trauma.72
affect (feeling-tone) The range, depth, and appropriateness of a subject’s emotional responsiveness. affective aura An epileptic aura comprising symptoms such as fear, depression, joy, and (rarely) anger. See also temporal lobe epilepsy.
affective-psychic seizure (dreamy state, psychic variant, automatism, vertige e´pileptique, psychomotor seizure) A form of simple partial seizure (thus without alteration of consciousness) characterized by 1. have a habitual sleep period that is of alterations in mood or cognitive function as a normal quality and duration, with result of the epileptic discharge. The seizures sleep onset earlier than desired; adynamia (Gr, lack of þ power) resemble those of complex partial type 2. awaken spontaneously earlier than Weakness. inasmuch as they may also be components of desired; 3. maintain stable entrainment to a 24-h such attacks, and they have similar adynamia episodica hereditaria, pathologies. sleep–wake pattern.
E. Does not meet criteria for any other disorder causing inability to maintain sleep or excessive sleepiness. From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Disorders, 1991/2001. Reproduced by kind permission of the Academy.
See also http://www.sleepeducation.com/ Disorders.aspx.
adynamesthesia (Gr, lack
of þ power þ feeling) Lack of appreciation of the force applied in a motor act, described with lesions in the contralateral preRolandic cortex.5358
adynamia-hyperkalemia
(Gamstorp syndrome) See familial periodic paralysis.2267
adynamia periodica hereditaria A dominantly inherited disorder of the muscle membrane with secondary effects on potassium metabolism in which attacks of muscle weakness with areflexia and percussion myotonia occur from childhood onwards, precipitated by rest after exercise, hunger, and cold. See familial periodic paralysis (hyperkalemic form).
Advances in Applied Neurological aerocele See pneumo(cephalo)cele. Sciences (Adv Appl Neurol Sci) A neurological journal. Address: Springeraerotitis syndrome Middle ear Verlag New York Inc., 175 Fifth Ave., New York, NY 10010.
petechiae and inflammation following barotrauma, leading to complaints of
afferent (Lat, carrying toward) Applied to neural impulses running into the CNS from the periphery, or to impulses running toward any identified structure. Affiliated National Dystonia Association A charitable organization comprising the Dystonia Medical Research Foundation and the National Spasmodic Dysphonia Association. WE MOVE also participates. The association awards research grants to discover the cause and cure of dystonia, sponsors symposia for the medical profession and for patients, publishes educational materials and a newsletter, and builds chapters and patient support groups. Web site: http://www.dystoniafoundation.org.
agenesis of the corpus callosum
25
affricate A consonant which is produced age Years of life, the groupings having been agenesis The failure of the formation by first blocking the airflow, as for a stop, and then slowly releasing it, causing turbulence as in a fricative sound—for example, /c/ as in cheese.3949
African trypanosomiasis See
arbitrarily defined in 1879 as embryonic (9 months), infancy to 3 years, childhood to 12 years, adolescence to 25 years, maturity to 50 years and decline thereafter. ‘‘Boyhood’’ and ‘‘girlhood’’ are defined as the period from the second dentition to puberty.5103
sleeping sickness.
age-associated memory action potentials in a neuron, axon, or muscle impairment (age-associated cognitive afterdischarge 1. The continuation of
fiber following the termination of an applied stimulus. 2. The continuation of firing of muscle action potentials after cessation of voluntary activation, for example, in myotonia. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.) 3. An EEG seizure pattern following repetitive electrical stimulation of a discrete area of the brain via cortical or intracerebral electrodes. 4. A burst of rhythmic activity following a transient such as an evoked potential or a spike. (Adapted from the 1974 Report of the Committee on Terminology, IFCN1117 1974 with permission from Elsevier Science.)
of a body part during embryological development. In the case of the corpus callosum, agenesis may occur alone or in association with other cerebral malformations or as part of a number of other syndromes such as alobar holoprosencephaly, and it may also be a marker for certain inherited metabolic diseases.3521, 4316 Agenesis of the cerebellar vermis may be asymptomatic or may be associated with impaired motor coordination.
decline, benign senescent forgetfulness) A state of minor cognitive impairment in the form of disturbances of memory function in people aged over 50 years.1352 The following agenesis of the cerebellar diagnostic criteria have been suggested 1350 4220 (Adapted from Crook and McEntee ): vermis See Joubert syndrome. I. Inclusion A. Patient aged over 50 years B. Complaints of gradually progressive memory loss reflected in everyday circumstances C. Memory test performance at least 1 standard deviation below the mean established for young adults on a standardized test of recent memory (e.g., Benton Visual Retention Test, Logical Memory Scale, or Associate Learning subtests of the Wechsler Memory Scale) D. Evidence of adequate intellectual function as determined by a scaled score of at least 9 on the Vocabulary subtest of the Wechsler Adult Intelligence Scale E. Absence of dementia, as suggested by a score of 24 or higher on the Mini-Mental State examination
agenesis of the cerebellum An uncommon malformation characterized by improper development of the dentate nuclei, vermis, and cerebellar peduncles.3489 Unilateral maldevelopment of the cerebellum is more common. agenesis of the corpus callosum
(callosal agenesis) A dysmorphic developmental syndrome presenting clinically with brachycephaly, hypertelorism, and hyperhidrosis in afterimage The persistence of a visual childhood with abnormality in image after extinction of the original consciousness, flushing, poor temperature stimulus as a result of retinal changes during control, and mental and developmental exposure to it. The perception may be delay.498 Microcephaly and heterotopias similar to that of a photographic negative. may be associated. Both recessive and X-linked transmission have been described. afternoon ectropion Weakness of The anatomical defect was described first II. Exclusion the periocular muscles increasing during the by Reil in 1812. The same anomaly day, thus leading to ectropion in the evening A. Evidence of delirium, confusion, or complicates a number of other congenital in patients with myasthenia gravis.6617 alteration in consciousness or of any 379 general medical or neurological disorder degenerative syndromes. Variants include the following: which could cause cognitive after-nystagmus Transient nystagmus deterioration Agenesis of the corpus callosum, X-linked occurring after a period of rotation of the B. History of any infective or inflammatory A congenital syndrome comprising body (as in a Barany chair) has ceased, as brain disease megacolon, adducted thumbs, and a result of the continued movement of C. Evidence of significant cerebrovascular mental and developmental delay in endolymph. pathology; of repeated head injury; of addition to the dysmorphogenesis.3295
afterpotential The membrane potential between the end of the spike and the time when the membrane potential is restored to its resting value. The membrane during this period may be depolarized or hyperpolarized at different times. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.)
depression, mania, or any other major psychiatric disorder D. Current diagnosis or history of substance abuse or use of psychotropic drug in the previous month
Whether or not this condition blends over time into a true dementing illness remains to be seen, now as at the time of publication of the first edition of this book; the author prognosticates that it will eventually be shown to do so. See also minimal cognitive impairment.
Agenesis of the corpus callosum with hypothermia A syndrome which has been reported in childhood and adult life. Some cases show spongy white matter disease.5034 Agenesis of the corpus callosum with anterior horn cell disease (Charlevoix County disease) A dysmorphic condition described in Quebec in which the agenesis is complicated by lower motor neuron lesions causing flaccid quadriparesis, areflexia, sensory neuropathy, and mental retardation.185 See also acrocallosal syndrome.
agenesis of the septum pellucidum with porencephaly
agenesis of the septum pellucidum with porencephaly A congenital dysmorphic syndrome characterized by heterotopias within the cerebrum, microcephaly, hydranencephaly, or porencephaly; polymicrogyria; and absence of the septum pellucidum. Clinically it manifests with mental and developmental delay, pyramidal signs, and dystonia.381
ageotropic nystagmus (apogeotropic nystagmus) See vestibular nystagmus.
age-related cognitive decline See age-associated memory impairment.
age-related white matter changes Deep cerebral signals on CT or MRI seen increasingly as age advances, especially in those with a history of hypertension and/or stroke, and associated with impaired results on testing speed, attention, and executive function.
ageusia (Gr, lack of þ the sensation of taste) Loss of taste sensation, usually resulting from lesions of the chorda tympani, and less commonly resulting from disorders of the brainstem or of the temporal lobes. aggressive myoclonic epilepsies
cortex, indicating that, as Geschwind had originally proposed, most agnosias are modality-specific naming defects with a marked confabulatory response and represent disconnection syndromes. Visual agnosia is ‘‘a disorder of higher behaviour confined to the visual realm in which an alert, attentive, intelligent and non-aphasic patient with normal visual perception gives evidence of not knowing the meaning of [or of not recognizing visual] stimuli.’’1430 Prosopagnosia (from Gr, a face þ to know) is a form of visual agnosia characterized by an inability to recognize previously known faces or other complex visual stimuli and to learn new ones. Generic recognition (a face) may remain but specific recognition (Uncle Fred) is lost, indicating a failure of visually triggered episodic memory. Bilateral lesions of the central visual system are responsible. Visual object agnosia is often associated with prosopagnosia and with failures of generic recognition. The lesions are bilateral and extensive, affecting the ventral and mesial occipitotemporal visual cortex. Object agnosia without prosopagnosia is sometimes seen with a unilateral lesion of the left occipitotemporal region. See also apperceptive agnosia, associative agnosia.
Syndromes characterized by myoclonic jerks, agnosopsia The ability to discriminate fragmental and usually erratic. See in the absence of awareness of what is being progressive myoclonic epilepsy. discriminated. See Riddoch syndrome.
agnathia-holoprosencephaly A
26
sentences follow grammatical rules, and from the improper use or nonuse of grammatical morphemes (e.g., conjunctions, prepositions, and bound inflectional affixes such as -ed, -ment, or -ing).2473 The substantive content of speech uttered is high but the supporting grammar distortion makes the speech sound like pidgin English or a telegram. The causal lesion is in the Sylvian cortex. The term was first used by Pick in 1913.
agranular cortex The motor strip, containing pyramidal rather than granular cells. agraphesthesia Lack of the ability to perceive figures drawn on the skin, as with lesions of the contralateral parietal lobe, of subcortical structures, of the spinal cord, and of the peripheral nerves. This is a sensitive and consistent indicator of defective perception of cutaneous sensory space but it is not of value in localizing the cause of sensory disturbance to the parietal lobe. The faculty had been identified by Hall and Donaldson in 1885, but the word was only introduced 40 years later.509 See also tactile agnosia.
agraphia (Gr, lack of þ writing) Difficulty experienced in self-expression by means of writing.1337 The term is generally restricted to that inability to write due to a cerebral lesion but which is not traceable to a gross motor handicap. The first modern descriptions were those of Jean Pitres (1848–1928) in 1884, and of De´je`rine.1538 Various classifications exist:
agonist 1. (prime mover, protagonist) congenital dysmorphic syndrome A muscle, the major action of which is to characterized by an absent or small mandible produce a particular movement in question. Anterior agraphia Writing is characterized by large, crude, and scrawled letters, written and holoprosencephaly.381 See prime mover; antagonist. 2. A chemical usually with the left hand, as seen in substance that binds to a receptor, thus dextrals who have suffered an anterior exciting it. agnosia Impairment of the ability to lesion of the dominant hemisphere. recognize stimuli which were formerly Posterior agraphia Writing is characterized by recognized—in the absence of disturbances agoraphobia (Gr, an assembly or well-formed letters composed into of perception, intellect, or language—due to marketplace þ fear) Pathological fear of sentences but with omissions, open spaces; the term was introduced by acquired lesions of the cerebral cortex. In misspellings, and incorrect word order, seen Teuber’s words, perceptions are stripped of Westphal in 1871.6739 in dextrals who have suffered a meaning. Vision, hearing, gustatory, and posterior lesion of the dominant hemisphere. Visuospatial agraphia Writing is tactile sensations may also be affected. agrammatic aphasia See Broca characterized by inappropriate placement The term was coined by Sigmund Freud in aphasia. of normal words and letters on the page, as 1891; but others, using the terms visual seen in patients who have suffered a perceptive centers, asymbolia, and imperceptions, agrammatism (telegraphic speech, nondominant hemisphere lesion. had clearly recognized the existence of the nonfluent aphasia) An aphasic disorder 4339 An alternative descriptive classification452 condition. The causal lesions are usually which impairs syntax rather than vocabulary recognizes the following: in the posterior part of the parietal lobe, but and which leads to effortful, dysprosodic speech, often with associated dysarthria and they can also be in the callosum or deeper Aphasic agraphia The agraphia accompanies improper sentence construction. It results white matter where they act to disconnect Broca, Wernicke, conduction, or from an inability to organize words so that transcortical sensory dysphasia. the speech area from the primary sensory
AIDS radiculopathy
27 Agraphia with alexia (parietal agraphia) A disorder which occurs with dominant parietal lobe lesions and leads to the poor formation of letters and to spelling errors. Pure agraphia Writing is characterized by poor spelling, although the words are well formed; neither alexia nor aphasia is present. Apraxic agraphia A dominant parietal lobe syndrome characterized by difficulty in forming letters and words when writing spontaneously or to dictation, often accompanied by errors in copying and in oral spelling. Spatial agraphia Writing is distorted by abnormal placement of the letters on the page, often explicable by visual neglect, because a nondominant parietal lobe lesion is the usual cause.
To the above forms, these may yet be added: Deep agraphia A disorder characterized by lexicalizations and semantic errors. [AK] Surface agraphia A disorder in which irregular spelling is regularized. [AK] Phonological agraphia A disorder in which there is specific impairment of the conversion from phoneme to grapheme and in which dictated nonwords cannot be transcribed. [AK]
agraphia with alexia See agraphia. agrypnia (Gr, lack of þ sleep) Total and prolonged absence of sleep. A condition characterized by total insomnia without tiredness.2073 It has been described in agrypnia with fibrillary chorea of Morvan4506 as a syndrome of unknown cause characterized by complete absence of sleep and of sleepiness, evening hallucinations, generalized fasciculations and paresthesias, and abnormal movements as in Morvan disease. Some relief of the agrypnia has been obtained by oral 5-hydroxytryptophan ingestion. The cause is unknown; both viral infection and mercury poisoning have been incriminated. Aguecheek disease A literary allusion to the Shakespearean character, Sir Andrew Aguecheek in Twelfth Night (1602), whose former intellect appears to have been commendable: ‘‘[he]. . . plays o’the viol de Gamboys, and speaks three or four languages word for word without the book and hath all the good gifts of Nature’’ (Act I, Scene 3) but, having been drunk nightly, lost important mental powers: ‘‘for many do call me a fool’’ (Act II, Scene 5). Moreover, his
drinking companion Sir Toby Belch considered that ‘‘ if you were to find so much blood in [Andrew’s] liver as would clog the foot of a flea, I’ll eat the rest of the anatomy.’’ Shakespeare gave Sir Andrew himself some insight: ‘‘Methinks I have no more wit than a Christian or an ordinary man has; but I am a great eater of beef, and I believe that does harm to my wit.’’ Summerskill6126 has neatly suggested that this was the first account of chronic portosystemic encephalopathy.
hydrocephalus, CSF lymphocytosis, and mental and developmental delay.77 Most patients present with severe developmental retardation, microcephaly, abnormal eye movements, pyramidal tract signs, and prominent dystonic movements. Although genetically heterogeneous, one locus has been identified at chromosome 3p21.5522
AIDS See HIV. Organizations offering information and support in this disease include the Elizabeth Glaser Pediatric AIDS Foundation. Address: 2950 31st St., Suite 125, Santa Monica, CA 90405. Aguilar syndrome A congenital Tel: 310-314-1459; 888-499-4673. dysmorphic syndrome characterized by E-mail:
[email protected]/. Web site: conjunctival telangiectasias, immunoglobulin deficiency, seizures, and http://www.pedAIDS.org/; the American mental and developmental delay.70 See Foundation for AIDS Research. Address: 120 Wall St. 13th Floor, New York, NY ataxia-telangiectasia-like syndrome. 10005-3902. Tel: 212-806-1600. E-mail:
[email protected]/. Web site: http:// agyria Absence of gyri in the cerebral cortex. See lissencephaly. www.amfar.org/; the National Association of People with AIDS. Address: 1413 K Street, NW 7th Floor Washington, DC 20005ai An old Gascon word for tenosynovitis, 3442. Tel: 202-898-0414 ext. 124. E-mail: evocative when spoken loudly.
[email protected]. Web site: http:// Aicardi syndrome A rare syndrome in www.napwa.org/; the National NeuroAIDS infant girls characterized by infantile Tissue Consortium. Address: 1050 Forest spasms, agenesis of the corpus callosum, and Hill Rd., Staten Island, NY 10314. chorioretinal lacunae. Other features of note Tel: 800-510-1678. E-mail: are myoclonus, psychomotor deterioration,
[email protected]/. Web site: optic hypoplasia, microphthalmia, http://www.hivbrainbanks.org/; and the chorioretinopathy, vertebral and other National Institute of Allergy and Infectious dysplastic bony anomalies including Diseases (NIAID). Address: National microcephaly and atypical asynchronous Institutes of Health, 31 Center Drive, Rm. burst–suppression EEG patterns in the two 7A50 MSC 2520, Bethesda, MD 20892hemispheres. Axial hypotonia, bilateral 2520. Tel: 301-496-5717. Web site: http:// pyramidal signs, and swallowing difficulties www.niaid.nih.gov. are always present; skeletal anomalies and facial dysmorphisms may also be found. AIDS-dementia complex See HIV An unidentified intrauterine insult during encephalopathy. the first trimester has been considered to be the cause,593 but the condition may be AIDS radiculopathy An X-linked dominant (at Xp22) with lethality inflammatory demyelinating in affected males.379 polyneuropathy resembling acute or chronic inflammatory demyelinating Aicardi Syndrome Foundation A polyneuropathy, considered to be immunemediated and to reflect disordered immune charitable organization in this field. Address: 450 Winterwood Drive, Roselle, IL regulation in patients infected with the human T-cell lymphotropic virus type III. 60172. Tel: 800-374-8518. E-mail: A predominantly sensory mixed
[email protected]. Web site: http://www. demyelinating polyneuropathy is also found aicardi.com. in patients with AIDS-related complex, and features of multiple mononeuropathy also Aicardi-Goutieres syndrome occur in some of these patients. Another (microcephaly with basal ganglion neuropathy with painful dysesthesias and calcification) A congenital autosomal symmetrical distal sensory loss has also been recessive progressive leukodystrophic reported.1288, 5931 See also HIV-associated syndrome, characterized by microcephaly, seizures, basal ganglion calcification, progressive polyneuropathy.
AIDS-related dementia
AIDS-related dementia See HIV encephalopathy.
ainhum Spontaneous amputation of the smallest toes without anesthesia; a tropical disease seen in the Black races. akataphasia (Gr, negative þ to declare) See Broca aphasia. akathisia (Gr, an inability to stay down) A feeling of restlessness or an irresistible urge to move, of which the patient is painfully aware. The urge is usually expressed as complex, stereotyped, and repetitive movements. The condition is most commonly induced by dopamine receptor– blocking drugs.2358 Complex stereotypies, accompanied by restlessness, are also common in patients with akathisia. Both early acute persistent and chronic tardive forms have been distinguished, the former when the dose of a neuroleptic drug is being increased and the latter at a late stage of therapy, during its reduction. See also restless legs syndrome, Tourette syndrome. The following rating scale has been designed:5488 Subjective 1. Feeling of restlessness, especially in the legs 2. Inability to keep the legs still 3. Inability to remain still, standing or sitting
Objective (rate each item as 0 ¼ absent, 1 ¼ mild, 2 ¼ moderate, 3 ¼ severe) 1. Sitting: Semi-purposeful/purposeless leg/feet movements Semi-purposeful hand/arm movements Shifting body position in chair Inability to remain seated 2. Standing: Purposeless/semi-purposeful leg/feet movements Shifting weight from foot to foot or walking on the spot Inability to remain standing in one place (walking/pacing)
akee (achee) A West Indian fruit containing hypoglycin, an inhibitor of acyl coenzyme A dehydrogenases. Intoxication leads to a picture resembling isovaleric acidemia.4313
28
akinesia (akinesis) (Gr, lack of þ set in motion) Defined by an international committee as a movement disorder ‘‘characterized by poverty and slowness of initiation and execution of willed and associated movements, and difficulty in changing one motor pattern to another in the absence of paralysis. This may include an inability to sustain repetitive movements and difficulty in performing repetitive motor acts and may vary in severity from slight (sometimes called hypokinesia) to severe and complete immobility.’’6868 akinesia algera (Mo¨bius syndrome, atremia) The loss of voluntary motion as a result of pain produced by such motion. In the absence of any detectable physical disease likely to be responsible, the condition is considered to be functional or psychogenic.5984
akinesthesia Loss of directional sensitivity in the skin and joints.
akinetic freezing of gait A hypokinetic form of fluctuation in Parkinsonian patients on long-term levadopa therapy.
disconnecting the cingulate cortex to have the ‘‘anterior’’ or ‘‘frontal’’ form. Since damage to both afferent and efferent pathways and to the rostral reticular activating system has caused the syndrome, it cannot be called homogeneous, although the clinical syndrome shows little variation. See persistent vegetative state (the preferred term) in which, however, spasticity is common, and also de-efferented state. A variant is akinetic mutism with blepharospasm, anomic aphasia, and delirium which may complicate treatment with the immunosuppressive agent MuromonabCD3 (OKT3). The MRI shows meningeal enhancement. Transient aseptic meningitis is a more usual complication.5041
akinetic-rigid syndrome Loss of the ability to initiate and to execute movements, associated with a loss of postural stability; negative symptoms, as typically seen in basal ganglion syndromes such as Parkinson disease but also as a result of heatstroke, as a toxic effect, and in numerous other neurological disorders. The subject was reviewed by Riley and Lang in 1996.5305 akinetic rigid syndromes
Degenerative brain diseases producing these features.6859 akinetic mutism (persistent They include Wilson disease; dopa vegetative state) The term responsive dystonia; Juvenile Huntington 977 introduced by Cairns for the state in disease; SCA3/MJD;DRPLA; Pelizaeus– which patients appear awake and maintain a Merzbacher disease; ataxia-telangectasia; sleep–wake cycle but are unable to Lesch–Nyhan syndrome; communicate in any way (i.e., not by speech, neurodegeneration with brain by gesture, nor by facial expression). The iron accumulation (NBIA); familial prion condition is characterized by continuous or diseases; autosomal dominant and prolonged deep NREM hypersomnia or autosomal recessive juvenile Parkinson coma with some retention of eye movements disease; X-linked dystonia parkinsonism but with loss of REM sleep and of arousal (Lubag), and DDPAC. mechanisms. The Glasgow Coma Scale score will be 4-1-1 or less. There is little evidence akinetic rigidity See arteriosclerotic of damage to the descending corticospinal rigidity. pathways. Cairns’ original patient had an epidermoid akinetic seizures (centerencephalic tumor of the third ventricle, but patients myoclonic-astatic petit mal seizures) with lesions in the region of the thalamus, A syndrome in which seizures manifest by basal ganglia, anterior cingulate gyrus, or pons, or with obstructive hydrocephalus, and sudden and complete loss of muscle tone or absences are accompanied by severe mental those with Creutzfeldt–Jakob disease may also enter this state. Those with lesions in the retardation and often by major motor (grand mal) seizures.3051 See also Lennox–Gastaut paramedian part of the posterior syndrome. diencephalon, the anterior thalamic peduncle, or the midbrain are said to have ‘‘posterior’’ or ‘‘mesencephalic’’ akinetic akinetic syndrome See Parkinson mutism, and those with bifrontal lesions disease.
alcohol-dependent sleep disorder
29
being fully aware of their dangers.102 See also osteopetrosis. In a variant form, osteopetrosis is combined with syndactyly.6405
and mental and developmental delay.3 Ocular symptoms reported include proptosis, visual field defects, optic atrophy, and papilledema.110
disease.
Albert disease See achillodynia.
albumino-cytologic dissociation
ALADIN See Allgrove syndrome.
Albert test A screening test for
akinetopsia See cerebral akinetopsia. akopia See acopia. Akureyri disease See von Economo
visual neglect in which the subject is required to cross out a series of lines 1959) French neurologist who was a pupil of ruled on a sheet of paper; the percentage of lines left uncrossed gives a score which in the De´je`rines in Paris. patients with acute stroke is related to 104 Alajouanine–Foix syndrome See cognitive outcome 6 months later. See also neglect. subacute necrotic myelopathy.
Alajouanine, Theophile (1869–
Alajouanine syndrome Congenital bilateral paralysis of the sixth and seventh cranial nerves, with clubfoot.91
alalia (Gr, lack of þ to talk) Speechlessness due to paralysis of the vocal apparatus. Aland disease An X-linked disease reported (only) from the Aland Islands, characterized by deafness, seizures, mental retardation, latent nystagmus, and tapetoretinal degeneration.2154
alaninuria-microcephalydwarfism-diabetes syndrome See Stimmler syndrome.
alarm-clock headache A term reflecting the regularity of the attacks of head pain in cluster headache. alarm reaction The first of the three stages of adaptive reaction to stressful situations defined by Hans Selye. It is marked by strong sympathetic activity, sufficient for the fight-or-flight response.
Albers–Schonberg disease (osteopetrosis, osteosclerosis fragilis, marble bone disease) A dominantly or recessively inherited syndrome characterized by increased density of the bones throughout the skeleton with unusual brittleness and associated with anemia and macrocephaly. The condition occasionally leads to cranial nerve (e.g., I, II, III, V, VII, VIII) palsies, nystagmus, or hydrocephalus.3483, 6405 The condition was described in 1904 by Heinreich Ernst Albers-Schonberg (1865– 1921), a German radiologist and professor at Hamburg, who devoted his life to the study of X-rays and clinical radiology without
A marked increase in the level of protein in the cerebrospinal fluid without a similarly large increase in the cell count. See Froin syndrome.
alcohol A sedative drug that relaxes
inhibitions first and provides transient emotional relief. Also, it is the cause of much social and medical misery. . King Darius of the Persians had inscribed on his tomb ‘‘I albinism Hereditary syndromes could drink much wine and bear it well’’ and characterized by deficiency of melanin William Pitt found that he could retire production in the eyes and/or skin. Most during a lively debate for a couple of bottles have no neurological complications other of port to refresh and enliven his faculties, than congenital nystagmus. but most heavy drinkers (i.e., more than The Rev. Mr. Spooner, a classicist don and three drinks per day for men or two for warden of New College Oxford, was women) suffer some medical consequences. albino and it has been suggested that his Some of the neurological problems verbal distortions (‘‘Sir! You have hissed all associated with alcohol are listed in the my mystery lectures; you shall leave Oxford following entries. by the town drain’’) could be accounted for by his nystagmus which jumbled the words that he read; however, his abnormal speech alcohol blackouts Temporary, was by all accounts spontaneous as much as complete inability to form long-term read, so this explanation may be insufficient. memories as the result of a high blood alcohol level. The inability may be partial or fragmentary with spotty losses of memory; albinism with degenerative or it could be complete, in which case features A dominantly inherited memory is lost for the events that transpired syndrome of deaf–mutism with during whole periods of time, including albinism.6319 anything from general social to more intimate forms of intercourse. Their duration Albright hereditary ranges between 6 h and 3 days. A rapidly osteodystrophy (Fuller Albright rising blood alcohol level is a likely syndrome, osteitis fibrosa disseminata, prerequisite.6746 polyostotic fibrous dysplasia) A rare disorder Such periods of amnesia are primarily with onset in childhood, characterized by ‘‘anterograde,’’ in that alcohol impairs the replacement of bone by fibrous tissue, bony ability to form new memories while the cysts, precocious puberty in female patients, person is intoxicated, rather than erasing areas of brown skin pigmentation, and, in memories formed before intoxication and are some cases, papilledema and optic explained in part by the fact that alcohol 110 atrophy. impairs especially the transfer of information from short-term to long-term storage Albright syndrome through the hippocampus. (pseudohypoparathyroidism and pseudopseudo hypoparathyroidism) alcohol-dependent sleep A congenital dysmetabolic, dysmorphic disorder A disorder characterized by neurocutaneous syndrome characterized by obesity; short stature; brachydactyly; persistent attempts to assist initiation of dental anomalies; precocious puberty in sleep by the ingestion of ethanol, used here females; hypocalcemia; intracranial, for its sedative effect.1629 Other alcoholic intramuscular, and subcutaneous patients claim that they persistently wake up calcification; skin hyperpigmentation; too early in the morning.
alcohol-induced headache
30
precursor to delirium tremens and withdrawal seizures.4242a ICHD2820 distinguishes two forms of headache related to alcohol ingestion: Immediate alcohol-induced headache (cocktail alcoholic cerebellar headache) for which the diagnostic criteria degeneration A uniform syndrome in are: chronic alcoholics resulting from atrophy, A. Headache with at least one of the especially of the cerebellar vermis. The following characteristics and fulfilling clinical features include a broad-based, criteria C and D: staggering gait, impaired heel–toe walking, 1. Bilateral slow leg tremor, and terminal oscillations in 2. Frontotemporal location the finger–nose test with minimal 3. Pulsating quality involvement of the arms and without 4. Aggravated by physical activity nystagmus or dysarthria. B. Ingestion of beverage containing alcohol The disorder is associated with destruction C. Headache develops within 3 h after of all the neurocellular elements of the ingestion of alcoholic beverage cerebellar cortex, and with damage to the D. Headache resolves within 72 h anterior and superior aspects of the vermis Delayed alcohol-induced headache (hangover and the olivary nuclei. Cerebral cortical headache) for which the diagnostic criteria are: atrophy is also likely to accompany this syndrome.2902 A. Headache with at least one of the
alcohol-induced headache The
The chronic form is a slowly progressive, painless proximal myopathy with retained reflexes, affecting the legs more than the arms. It improves with cessation of alcohol ingestion and improved nutrition.1831 A form associated with hypokalemia (acute hypokalemic myopathy of alcoholism) is also described.3025
alcoholic neuropathy (athrodynia a potu) A painful, centripetal, sensorimotor axonal neuropathy due at least in part to nutritional deficiencies in alcoholics. The condition was first described in 1779 by Lettsom (1744–1815), a physician in the Virgin Islands, and later in 1822 by James Jackson Sr. (1777–1867). Clinically, insidiously progressive, distal weakness, paresthesias, and burning pain are the usual symptoms, felt in the legs much more than in the arms; hyperesthesias and following characteristics and fulfilling hyperpathias are also common complaints. criteria C and D: alcoholic dementia Widespread Symmetrical hyporeflexia, distal weakness, affections of intellectual function, subtle or and the usual features of sensorimotor and 1. Bilateral severe, occurring in chronic alcoholics who autonomic neuropathy, with trophic 2. Frontotemporal location have no evidence of Alzheimer disease, 3. Pulsating quality changes, are typical signs. multi-infarct dementia, or 4. Aggravated by physical activity A variant is acute alcoholic axonal B. Ingestion of a modest amount of alcoholic Wernicke–Korsakoff syndrome (which is polyneuropathy, presenting with flaccid the diagnosis usually applied in the cases beverage by a migraine sufferer or an tetraplegia and areflexia in subjects with where the onset was not abrupt), and in intoxicating amount by a nonmigraine malnutrition related to heavy alcohol whom there is a tendency for cortical sufferer consumption.6841 See also C. Headache develops after blood alcohol shrinkage and ventricular dilatation on head Wernicke–Korsakoff syndrome, Strachan level declines or reduces to zero CT scans.3864 The absence of any typical syndrome, beriberi. D. Headache resolves within 72 h pathology makes the existence of the entity 6542 as a primary condition suspect, however. From the International Classification of alcoholic paraplegia Weakness of See also Marchiafava–Bignami disease, Headache Disorders (Headache the legs associated with excessive alcohol pellagrous encephalopathy, acquired Classification Committee of the abuse, described first in 1868 by Samuel International Headache Society. Cephalalgia hepatocerebral degeneration. Wilks (1824–1911), physician to Guy’s 2004;24[Suppl 1]) by kind permission of Hospital, London.6787 The condition is Dr. Jes Olesen, the International Headache alcoholic encephalopathy likely to represent either a severe motor Society and Wiley-Blackwell Publications. Alcohol-engendered pellagra affecting the neuropathy or a proximal myopathy, as brain, leading to central chromatolysis, described in the preceding entries. especially marked in the brainstem pontine Alcohol-Use Disorders nuclei and cerebellar dentate nuclei, and in Alcoholics Anonymous General Identification Test (AUDIT) the nuclei of the third, sixth, seventh, and services office. Address: P.O. Box 459, A screening test to evaluate problems with eighth cranial nerves.2799 Grand Central Station, New York, NY alcohol use.5562 alcoholic myopathy A syndrome of 10017. alcohol withdrawal syndrome A acute or chronic weakness due to the toxic clinical syndrome occurring in alcoholdependent people within 1–2 days of the consumption of their last drink. Clinically, anxiety, tremor, headache, agitated delirium of any degree of severity (often with hallucinations), insomnia, and signs of excessive CNS and autonomic (sympathetic) activation are the prime features. The condition is particularly serious as it represents a possible
effects of alcohol. The acute form (acute alcoholic myopathy) is a necrotizing myopathy presenting with muscle pain, tenderness, swelling, and weakness which begins during a period of heavy alcohol intake. Myoglobinuria is commonly detectable, as are other manifestations of acute alcohol toxicity or withdrawal, many of which lead to excessive muscular activity.1831
aldolase A deficiency A congenital dysmorphic syndrome characterized also by dwarfism; strabismus; ptosis; dental, dermal, skeletal, and cardiac anomalies; enlarged liver; microcephaly; and mental and developmental delay.381
alertness A phasic, graded state of arousal in which the subject is awake and responsive to environmental stimuli.
31
Alexander Graham Bell Association for the Deaf A charitable organization. Address: 3417 Volta Pl., NW, Washington, DC 20007-2778.
changes with the direction of gaze, being greater when gaze is directed in the direction of the fast phase.5338, 5731 2. Nystagmus of vestibular origin is separable into three degrees. First degree; present only when gaze is in the direction of the fast phase of the Alexander disease (fibrinoid degeneration of astrocytes, dysmyelinogenic nystagmus; second degree; present also in the primary position; third degree; present when leukodystrophy; OMIM 203450) A rare, gaze is in any direction. Thus, in sum, fatal, sporadic leukodystrophy, usually nystagmus of vestibular origin is of greatest occurring in infants and characterized by amplitude when the subject looks in the fibrinoid degeneration of astrocytes surrounding blood vessels, especially under direction of its fast component. This last the ependyma in frontal and parietal regions, series of statements was enunciated by Dr. Gustav Alexander, an Austrian which contain deposits resembling otolaryngologist, in 1912. Rosenthal fibers, with widespread demyelination but preservation of neurons. The major component of Rosenthal fibers is alexia (Gr, lack of þ lexicon) Inability to written or glial fibrillary acidic protein resulting from comprehend the meaning of 1330 printed language symbols. Auditory GFAP mutations. Its biochemical basis is comprehension is retained and spontaneous undefined. Linkage to 11q13 has been established. The many pathogenic mutations speech is normal in the pure form, which is are listed at http://www.waisman.wisc.edu/ rare and is marked by the subjects’ ability to read letter by letter with errors, but not to alexander. manage whole words. The major clinical features include The condition was separated from other psychomotor retardation, growth delay, varieties of language impairment in 1885 by seizures, spastic quadriparesis, and Lichtheim. De´je`rine described the two megalencephaly; death ensues within a major varieties (with agraphia and without few years.6485 The condition was described by W.S. Alexander in 1949.119 agraphia) in 1891–1892 and determined that the left angular gyrus is the center for MRI criteria have been suggested and the interpretation of the visual images which include the presence of extensive symmetrical white matter lesions, especially constitute written language. A third form (anterior or frontal alexia; frontally; a periventricular rim of low signal preangular, literal alexia, letter blindness) on T2 weighted images; swelling or atrophy also exists, in association with Broca aphasia of basal ganglia and thalamus; brain stem caused by a lesion in the posterior part of the lesions; and contrast enhancement in the dominant frontal lobe. It may represent ventricular lining, periventricular rim, inability to read out loud while internal frontal white matter, optic chiasm, fornix, basal ganglia, thalamus, dentate, cerebellar comprehension is retained (in which case it is cortex, or brainstem. The presence of four of not really an alexia at all) or the exposure of a these suggests the diagnosis. (For reference, lifelong reading problem, but is most often a feature of the primary lesion. see van der Knaap, 2006.)6485 Its features include syntactic alexia, Variants include the following: anomia for letters though there is some A localized form in infants, characterized by success with comprehension of spelled spastic dysarthria, dysphagia, and words. Spelling aloud is poor. There is severe 381 fasciculations. agraphia, poor ability to comprehend spelled A juvenile type, characterized by self-mutilawords and to spell aloud, nonfluent aphasia, tion, seizures, bulbar weakness, nys752 poor, clumsy copying with omissions, and tagmus, ataxia, and pyramidal signs. accompanying right hemiparesis, motor Even rarer adult forms are characterized by apraxia, and mild sensory loss.526, 522 dominantly inherited manifest nystagmus, dysarthria, palatal myoclonus, A fourth form, deep dyslexia, is a condition ataxia, intracranial calcification, cerebral of total alexia and agraphia with an added gliosis, and diffuse demyelination5477, 5670 lack of comprehension of words spelled out with medullary atrophy and, in some and is due to a lesion of the posterior parts of cases, dementia. the cortical language areas. It occurs usually in the context of recovery from total alexia. Alexander’s laws 1. The amplitude of In this condition, a patient can read only by lexical–semantic association, which leads to the nystagmus caused by central lesions
alexia without agraphia speech containing a number of synonyms which are spoken in place of the words read. With surface alexia, words with irregular spelling are not read. Finally, neglect alexia, seen in subjects with right pariental lesions, is characterized by their neglect of the first few letters of a word; thus ‘‘barnyard’’ might be read as ‘‘yard.’’ See also deep dyslexia.
alexia with agraphia (central alexia; associative, verbal, literal, semantic, subangular, aphasic, total, parietal-temporal, letter, or cortical alexia; angular gyrus syndrome; word and letter blindness; word blindness; acquired illiteracy)A symptom complex identified by De´je`rine in 1891, comprising impairment of reading and naming, especially of letters but also of words (literal and verbal alexia); severe impairment of both spontaneous writing and writing to dictation, with retention of only a slavish ability to copy (agraphia); and an inability to comprehend spelled words and to spell aloud.2905 Fluent aphasia, anomia, right hemisensory deficits with hemianopia, and the features of Gerstmann syndrome are occasionally found. The causal lesion is in the dominant parietotemporal region.1538 alexia without agraphia (posterior, occipital, sensory, verbal, agnosic, optic, associative, splenio-occipital, postangular, visual or pure alexia; pure word blindness) A disconnection syndrome described by De´je`rine (1892) and the first for which clear anatomical evidence was forthcoming. The major feature is an inability to read letters, words, or musical notation, in association with a right hemianopia and difficulties with color naming. Copying, writing spontaneously and to dictation, and the interpretation of pictures and letter naming are preserved, however, and verbal output is fluent and appropriate. Comprehension of spelled words and spelling aloud are retained. A patient with the syndrome was recorded by Johann Schmidt in 1673 as follows: ‘‘He could not read written characters, much less combine them in any way. He did not know a single letter nor could he distinguish one from one another. But it is remarkable that, if some name were given to him to be written, he could write it readily, spelling it correctly. However, he could not read what he had written even though it was in his own hand.’’
alexithymia The causal lesions are of the left occipital lobe and of the splenium of the corpus callosum, disconnecting the intact right visual cortex (area 18) from the left angular gyrus.2338
alexithymia An alteration in the regulation of affect such that subjects cannot identify nor describe feelings and have difficulty distinguishing feelings from bodily sensations of emotional arousal, impaired symbolization, and an externally oriented cognitive style, occurring usually in the context of clinical depression. Alexithymia may contribute to the development and severity of somatic and psychopathological disorders.
algesthesis (Gr, pain þ perception) An antique term for any painful condition.
algetic (Gr, pain) Producing pain. algodystrophy (Sudeck atrophy) See complex regional pain syndrome. algoneurodystrophy See reflex sympathetic dystrophy.
Alice-in-Wonderland syndrome (depersonalization syndrome, Lilliputian syndrome) A syndrome of bizarre disturbances of the body image, feelings of levitation, alteration of the sense of the passage of time, depersonalization, metamorphopsia, and doubting of personality that may occur in the setting of migraine, epilepsy, parietal lobe disease, hypnagogic states, schizophrenia, delirious states, or the ingestion of hallucinogens. In migraine at least, the patient retains insight into the unreality of the experiences. The syndrome is also well described in children.3004 The same feelings of detachment, unreal changes in the outside world, fantastic distortions of the sizes and shapes of people and things, and the bewilderment that plagued Alice also affect the victims of this syndrome, as was noted by J.W. Todd in 1955.6336 The fact that Lewis Carroll suffered from migraine may also have led to the appellation,4294 and as Alice drank several mysterious vials of liquid before her strange experiences, so also have a number of victims of this syndrome ingested drugs such as LSD and hashish.5704
alien hand (limb) syndromes (la main e´trange`re; anarchic hand) Failure to
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recognize ownership of a limb in the absence of visual cues, associated with autonomous activity of that limb, which are perceived by the subject as outside his control; thus a circumstance in which one of the patient’s hands behaves idiosyncratically and automatically in a way which the patient finds foreign, or at least uncooperative. It usually complicates a callosal lesion and may be accompanied by grasp reflexes, cortical myoclonus, involuntary groping toward (or manipulation of) objects perceived, intermanual conflict, mirror movements, and motor perseveration.373 In many cases apraxias are also present. The patients frequently express astonishment and frustration at the errant limb (autocriticism). They experience it as being controlled by an external agent and often refer to it in the third person. Alien hand syndrome most commonly follows lesions in the medial frontal lobes and corpus callosum. It is also encountered with more posterior strokes (posterior alien hand syndrome) and in patients with corticobasal ganglionic degeneration.651 Various forms are recognized: The callosal form is characterized by intermanual conflict (in which the hands act at cross-purposes with each other) and the frontal type by reflex grasping. The former usually occurs in the nondominant hand and is temporary, while the latter is due to left medial frontal lesions with callosal involvement and is persistent; the alien phenomena are seen in the contralateral dominant hand.5608 A major recent review of that of Fisher.2103 A sensory alien hand syndrome is also described, involuntary movements of choking and attack on the left side of the body by the right arm following a stroke in right posterior cerebral artery territory. Multiple disorders of primary sensation, sensory processing, hemispatial attention and visual association, and severe left arm ataxia are also present.312 A posterior form with sensory ataxia and hemineglect due to a thalamic lesion has also been described. The term diagonistic dyspraxia indicates a conflict between the desired act and that which is performed; agonistic dyspraxia is the compulsive automatic execution of orders by one hand when the patient is asked to perform that movement with the other one. Magnetic apraxia/repellent apraxia refers to instinctive grasping or avoiding with an abnormal posture. In a variant form which may be ictal, the phenomenon occurs paroxysmally. The
cortical lesions described were frontomedial or posteroparietal.3763
alien tissue lesions Hamartomatous masses commonly found in the temporal lobes of patients operated on for complex partial seizures. They are of three main types: glial forms may be astroglial or oligodendroglial; mixed neuroglial forms include gangliogliomas and cortical dysplasias, neither of which acts like a tumor. The vascular lesions occurring in this context represent angiomatous malformations.6
aliquorrhea A syndrome of low intracranial pressure following lumbar puncture or traumatic meningeal tears, occasionally seen with subdural hematomas or occurring spontaneously. The leading clinical symptom is headache occurring in the upright position, which fades quickly when the recumbent position is attained. See also spontaneous intracranial hypotension.
allachesthesia See alloesthesia. Allan-Herndon-Dudley syndrome A rare X-linked variant of hereditary spastic paraparesis characterized by neonatal hypotonia, markedly delayed motor milestones, decreased muscle bulk, contractures at large and small joints, spastic paraplegia, extrapyramidal signs (variable), mental retardation (usually severe), dysarthria, ataxia, abnormal faces (elongated face with normal head circumference, bitemporal narrowing, and large ears), scoliosis, and broad, shallow pectus excavatum, and sometimes by mental retardation. Neck drop (‘‘limber neck’’) is a characteristic finding. Linkage to chromosome Xq213 has been reported.717
allele (allelic) diseases Conditions in which the same genetic abnormality leads to differing clinical manifestations. Allen–Dent syndrome See argininosuccinase deficiency, citrullinemia. Allen diagnostic scale A scoring system devised to aid in the clinical diagnosis of the pathology underlying acute stroke.130
Allen reflex 1. (Gonda reflex) A variant of the Babinski reflex in which dorsiflexion
all-median hand
33 Allen diagnostic scale of the hallux is sought in response to downward stretching and sudden release of Variable Clinical Feature the second toe. See also Stransky reflex. 2. (Cleckley reflex) A variant of the Apoplectic onset with two or more None or one Two or more Babinski reflex in which dorsiflexion of of the following: loss of consciousness, headache the hallux is sought in response to within 2 h, vomiting, or neck upward flicking and sudden release of the stiffness second toe. Level of consciousness 24 h after admission
Allen score A scale with prognostic value in patients with stroke. The features recorded are:
Plantar responses
Diastolic blood pressure 24 h after Age in years admission Loss of consciousness at onset of stroke History of angina, claudication, or Drowsy or comatose 24 h after onset (or diabetes later) History of hypertension Complete limb paralysis (no movement better than palpable contraction, MRC 1) Previous transient ischemic attack Higher cerebral dysfunction (HCD) or stroke Heart disease Aphasia and/or Parietal deficit: Sensory or visual inattention or Visuospatial neglect or Loss of joint position sense Homonymous visual field deficit to confrontation (HHA)
Alert Drowsy Coma Both down or one upgoing Bilaterally upgoing
None 1 or more Not present Present None Any previous event None Aortic or mitral murmur Cardiac failure Cardiomyopathy Atrial fibrillation Cardiomegaly on chest X-ray Myocardial infarct in past 6/12 months
Score 0 21.9
0 7.3 14.6 0 7.1 0.17 0 3.7 0 3.7 0 6.7 0 4.3 4.3 4.3 4/3 4.3 4.3
Patients with a score of 0 will probably survive A score of 24 suggests intracranial hemorrhage with fair and will walk again.129 reliability.1066 See also Siriraj score, NIH Stroke Scale, Canadian Neurological Scale. From Allen CMC. Clinical diagnosis of the acute stroke syndrome. Quart J Med 1983;52:515–23, reprinted by kind permission.
Calculation of Score Constant (start with) Complete limb paralysis HCD with HHA and hemiplegia Drowsy/comatose at 24 h Age in years Initial loss of consciousness Uncomplicated hemiparesis
þ40 –12 –11
arteries.6087 See Churg–Strauss syndrome. The clinical presentations resemble those of polyarteritis nodosa.2728 In a variant form, necrotizing granulomatous angiitis with a predilection for the CNS (Feisen–Cravioto syndrome) the effects are confined to the brain and spinal cord.
been reported.3433 Many other neurological disorders have been reported in association. The words ALacrima, achalasia, ADrenal Insufficiency and Neurological disorder have been manipulated into aladin, the name bestowed upon the faulty gene product.
allergic polyneuritis A subacute
Alliance of Genetic Support Groups A charitable organization.
motor neuropathy following prophylactic immunization against Rabies.3724
–10 – (age 0.4) 9 þ8
allergic angiitis and granulomatosis (Churg–Strauss syndrome) Vasculitic syndromes characterized by fibrinoid necrosis with eosinophilic and granulomatous tissue reactivity in capillaries, venules, and the small- and medium-sized muscular
allesthesia See alloesthesia. Allgrove syndrome (ALADIN, AAA or AAAA syndrome; OMIM 231550) A rare, recessively inherited multisystem peroxisomal disease of childhood, linked to a mutation at 12q13 and characterized by alacrima, achalasia, autonomic and sensorimotor polyneuropathy, and insensitivity to ACTH, largely as a result of cholinergic nerve dysfunction.136 The condition usually presents in infancy with dysphagia, hypoglycaemia, and hypotension, which progresses to polyneuropathy and dementia, although survival to adult life has
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[email protected].
Allison leg jitters See restless legs syndrome.
all-median hand The anomalous condition in which all of the intrinsic hand muscles are supplied by the median nerve, which normally supplies only the opponens and abductor pollicis brevis, the lateral two lumbricals and half of the flexor pollicis brevis. The clinical significance is slight unless the patient happens to sustain an ulnar nerve lesion (in which case the hand
all-or-nothing (none) response continues to function normally) or a median as are development of spontaneous activity in nerve lesion (in which case the hand does not afferent inputs, sprouting of large primary function at all).4080 efferents and of sympathetic efferents into neuromas and dorsal root and ganglion cells, all-or-nothing (none) response the elimination of intrinsic modulatory systems, and up-regulation of receptors in (of sensory nerve fibers) A phenomenon the dorsal horn which mediate excitatory described first by Keith Lucas but further processes.See also hyperalgesia. analyzed by Adrian in 1918 and then more At the bedside, brush allodynia (provoked fully 4 years later.62 Adrian stated the All-orby stroking the skin with an artist’s Nothing principle as follows: ‘‘In a normal paintbrush) is most easily tested and will be nerve fibre, where the impulse is not conducted with a decrement, the intensity of found present over the face and scalp in a the impulse at any point depends only on the range of primary headache disorders. Although its pathophysiological local condition of the fiber at that point [but significance has only been appreciated neither] on the strength of the stimulus which set the impulse in motion nor on the recently, Dr. William Salmon wrote on this amount of reduction which the impulse may matter in his Theory and Practice of Physick (3rd edition, London, 1695) as follows: ‘‘if the film have suffered in regions of decrement as it that covereth the skull be affected, the Pain is passed down the nerve.’’ so vehement that the Sick cannot suffer the skin thereof to be touched by ones Hand.’’ all-ulnar hand Anomalous motor innervation of all of the intrinsic hand muscles by the ulnar nerve, the sensory alloesthesia (allesthesia) innervation pattern being normal. The 1. Displacement of a sensation—usually anatomical basis is the Riche–Cannieu tactile or visual—away from the true anastomosis, through which the motor fibers position of the stimulating object. Thus, a from the median nerve transfer to the ulnar patient with a right parietal lesion touched nerve in the palm.5490 on the left hand which is resting on a table may claim that it was actually the table that was touched. 2. Displacement of a perception allo- Greek prefix, signifying ‘‘other.’’ (in any modality) from the correct to another allocheiria (allochiria) Faulty localization side or site, seen with lesions of the right of a stimulus, such that e.g., a subject touched parietal lobe or spinal cord. Thus with visual on the left hand claims to having been touched alloesthesia, the percept may be displaced from an intact to a blind half-field. on the right; a sign of right (nondominant) Obersteiner described the sign first in parietal lobe disease, described by Bamberger 1880 in a patient with a spinal cord lesion and by Obersteiner in 1881. and others have noted it in patients with hysteria or parietal lobe lesions. It is thought allochiria See allocheiria. that damage to the crossing fibers causes sensory inputs to be channeled through allocortex (rhinencephalon) The fourlayered, differentiated paleocortex including uncrossed fibers on the opposite side.3346 the hippocampal formation and the pyriform allokinesis 1. Perception of an ordinary cortex. With the corticoid areas, it constitutes the cortical expression of the nonpruritic stimulus as itchy (HJM).5853 limbic system. 2. The performance of movements requested of the patient by the wrong limb. Thus a paralyzed left arm will not obey a request to allodynia (Gr, other þ pain) touch an object, but the left leg will do so (hyperpathia, hyperalgesia) Pain felt involuntarily.2097 following a stimulus that is not usually noxious or painful. This frequently occurs in association with causalgia following prior allophones Minor variations in a axonal injury and indicates the presence of phoneme. hyperexcitable axonal sprouts able to generate electrical impulses ab initio or else allotriogeusia (Gr, another þ taste) to encourage ephaptic transmission. Perversion of taste. See ageusia. Sensitization of peripheral nociceptors and disinhibition within the trigeminocaudal alogia Poverty of speech production and system are other postulated mechanisms,2258 content.
34
alopecia-mental retardationseizures syndrome A congenital dysmorphic syndrome in which alopecia, fine, brittle hair, dental caries, seizures, and mental and developmental delay are associated. See dermotrichic syndrome.
alopecia, neurological defects, and endocrinopathy syndrome A recessively inherited syndrome (7q31.32, RBM28) described in an Arab Moslem kindred and characterized by loss of hair and subcutaneous fat, mental retardation, hypogonadotropic hypogonadism, central adrenal insufficiency, gynecomastia, short stature, microcephaly, and kyphoscoliosis.4992
Alpers, Bernard Jacob (1900–1981) American neurologist who trained at Harvard and studied as a postgraduate in Madrid with Rio-Hortega. He was professor and chairman of neurology at Jefferson Medical College, Philadelphia, for 27 years. He described the infantile gray matter degenerative disease, Alpers disease, named for him in 1931. His comment on differential diagnosis: ‘‘based on collective data, clinical problems deal entirely with pertinent possibilities and not with a long list of all possibilities’’ represents a message which, in the context of Grand Rounds, has still not been widely understood.
Alpers disease (progressive neuronal degeneration of childhood with liver disease, progressive cerebral poliodystrophy; spongy glioneuronal dystrophy; diffuse cerebral degeneration in infancy; diffuse progressive cerebral cortical atrophy; progressive neuronal degeneration of childhood; Christensen–Krabbe´ syndrome; OMIM 203700) A rare, sporadic or recessively inherited mitochondrial disease of unknown cause in which there is degeneration of the gray matter and glial tissue (infantile poliodystrophy) and a subacute hepatitis beginning early in life, often after a transiently normal infancy. It is the result of mutations in a mitochondrial DNA (mtDNA) polymerase gene (POLG1), Clinically, the disease is characterized by progressive mental deterioration, developmental delay, spasticity, myoclonus and intractable generalized convulsions, choreoathetosis, ataxia, optic atrophy with
ALS
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Muscle biopsy demonstrates slight fiber size variability but dystrophin is normally distributed; carnitine palmitoyl transferase alpha-mannosidosis deficiency and glycolytic enzyme levels are normal. Immunohistochemistry shows marked (OMIM248500) A recessively inherited reduction of -sarcoglycan. Genetically, lysosomal storage disease associated with there is compound heterozygosity with decreased activity of -mannosidase, an Arg284Cys and Glu137Lys substitutions, enzyme that degrades oligosaccharides and glycoproteins in neural and visceral tissues. corresponding to nucleotide changes C850 T 4446 Two disease phenotypes are described: type I, and G409 A in the gene. the severe infantile phenotype, and type II, alpha variant rhythms Certain alpha-aminoadipic aciduria A rare which progresses more slowly and allows characteristic EEG rhythms which are diffuse encephalopathy, probably recessively survival to a state of adult recorded most prominently over the leukoencephalopathy.1056 inherited and a possible cause of mental posterior regions of the head and differ in retardation, characterized by this urinary frequency but resemble in reactivity the finding.2070 alpha-methyl-aceto-acetylcoenzyme (Aß-ketothiolase deficiency) alpha rhythm. Cf. fast alpha variant rhythm and slow alpha variant rhythms. (Adapted A hyperammonemic syndrome causing alpha coma (alpha pattern coma) The from the 1974 Report of the Committee on accumulation of acetoacetic and other presence of an EEG pattern predominantly Terminology, IFCN1117 and reproduced by organic acids, and clinically characterized by within the alpha frequency band, kind permission of Elsevier science.) This episodic vomiting, impairment of paradoxically resembling waking EEG consciousness, seizures, hyperglycemia, and rhythm tends to have a frequency that is patterns but unreactive to touch, sound, harmonic of the fundamental EEG rhythm. ketoacidosis.1471 or pain and often widely distributed over the head, seen in apparently comatose alpine sickness See altitude insomnia. alpha-methyl-ß-hydroxybutyric patients. See persistent vegetative state (the preferred term). aciduria A diffuse encephalopathy due to Alport, A. Cecil (1890–1959) This is most commonly seen in hypoxic deficiency in thiolase activity, characterized American physician. patients following cardiac arrest, those with by mental retardation, metabolic acidosis, localized brainstem lesions at or just caudal to and altered consciousness.1471 Alport syndrome (dominant the pontomesencephalic junction, or those nephritis and hearing loss) A dominantly or 6545, 300 with drug intoxication or concussion. alpha rhythm Regular, rhythmic incomplete sex-linked recessively inherited Its outcome may be predicted by the activity on the EEG at 8–13 Hz occurring disease of childhood, characterized by reactivity of the EEG to noxious stimuli but during wakefulness over the posterior regions progressive renal impairment with interstitial the finding carries a poor prognosis; the few of the head, generally with higher voltage foamy cells in the kidneys; neural deafness; survivors seldom have meaningful over the occipital area. Its amplitude is abnormalities of the lens including 3296 recovery. variable but is mostly below 50 uV in the spherophakia and caaracts; macular adult and it is best seen with the eyes closed degeneration; and optic nerve drusen.147, 2201 alpha-fetoprotein A protein. Its levels and under conditions of physical relaxation are elevated in the amniotic fluid of fetuses and relative mental inactivity. The rhythm is ALS See amyotrophic lateral sclerosis. blocked or attenuated by attention (especially Charitable organizations in this field that have neural tube deficits. visual), mental effort, and drowsiness. Acetylcholinesterase levels, however, have include: The Family Caregiver Alliance. The use of the term must be restricted to Address: 690 Market St., Suite 600, San more specificity. those rhythms that fulfil all these criteria. Francisco, CA 94104. Tel: 415-434-3388; Activities in the alpha band which differ 800-445-8106. E-mail:
[email protected]. alpha galactosidase The enzyme from the alpha rhythm as regards their Web site: http://www.caregiver.org; the deficient in Fabry disease. topography and/or reactivity either have ALS Association; the ALS Society of specific appellations (e.g., the mu rhythm) or Canada; the Forbes Norris ALS Research alpha-glycerophosphate should be referred to as rhythms of alpha Center. Address: California Pacific Medical dehydrogenase deficiency See frequency. (Adapted from the 1974 Report Center, 2324 Sacramento St., San Francisco, glycerophosphate dehydrogenase of the Committee on Terminology, CA 94115. Tel: 415-923-3604; the Les deficiency. IFCN1117 and reproduced by kind Turner ALS Foundation. Address: 8142 permission of Elsevier science.) North Lawndale Ave., Skokie, IL 60076. Tel: 888-ALS-1107. Web site: alpha ketoadipic aciduria A rare
[email protected]; and the International diffuse encephalopathy of infants due to an alpha-sarcoglycan deficiency A muscular dystrophy presenting in childhood Alliance of ALS/MND Associations, a error in lysine metabolism (failure of coordinating body for national organizations conversion of -ketoadipic acid to glutaryl with easy fatigue, hyperCKemia, and mild scapular winging with the later development supporting people living with ALS coenzyme A) and characterized by of exercise intolerance and myoglobinuria. Web site: http://www.alsmndalliance.org/. impairment of mental and physical blindness, deafness, vomiting, and early death from liver failure in association with abnormal lactate and pyruvate metabolism.142 Adolescent onset has also been recorded.The differences between this condition and Leigh disease are questionable. See also familial poliodystrophy, MNGIE and the Web site: http://www.ninds.nih.gov/disorders/ alpersdisease/alpersdisease.htm/.
development, metabolic acidosis, skin rash, hypotonia, and seizures.6719
ALS and Associated Web Sites
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ALS and Associated Web Sites
ALSSQOL A tool for assessing the A patient-based site providing links to other quality of life in patients with amyotrophic lateral sclerosis and surveying negative sites related to ALS, including chat rooms emotions, interaction with people and the and message boards. environment, intimacy, religiosity (sic), physical symptoms, and bulbar ALS and Neuromuscular functions.5845 See also Sickness Impact Research Foundation A charitable Profile, McGill Quality of Life Inventory. organization. Address: California Pacific
alternating eye deviation sign
Medical Center, 3698 California St. Room 545, San Francisco, CA 94118. Tel: 415-923-3604. Alstrom–Hallgren syndrome (recessive retinal degeneration, diabetes, obesity, and hearing loss) A rare, recessively ALS Association A charitable transmitted syndrome of infancy or organization dedicated to finding the cause childhood characterized by loss of central and cure of this disease. It provides funding vision because of pigmentary retinal for research, conducts scientific symposia, degeneration (cone-rod dystrophy), diabetes and provides both public and professional mellitus, progressive neural deafness, education programs and patient counseling. hypogonadism, interstitial nephropathy, Address: 21021 Ventura Blvd., Suite 321, and, sometimes, acanthosis nigricans, Woodland Hills, CA 91364-2206. Tel: 818mental retardation, or obesity.149 See also 340-7500; Fax: 1-800-782-4747. Bardet–Biedl syndrome, Usher syndrome.
alternating hemiplegia Paresis of
ALS Forums An online support group, alternans nystagmus See periodic moderated by people with that condition and intended for others affected.
nystagmus.
Consistent deviation of the eyes in parallel away from the side on which the examiner is standing, occurring when the examiner attempts to open the subject’s eyes. The condition is considered to be a conversion reaction.246
cranial nerves on one side of the body and of the trunk and limbs on the other, constituting clear evidence of a lesion of the brainstem. The term was introduced by Gubler. See also the Weber, Benedikt, Foville, Millard–Gubler, Jackson and Villaret syndromes, and the alternating hypoglossal hemiplegia syndrome. Alternating Hemiplegia is a Web-based information sheet compiled by the National Institute of Neurological Disorders and Stroke.
alternating hemiplegia of childhood A rare, progressive disease
with onset before the age of 18 months, characterized by sudden and repeated attacks alternate brachial diplegia See of hemiplegia lasting hours to days, ALS Foundation for Life cruciate paralysis. involving each side alternately, relieved by A nonprofit organization dedicated to sleep, associated with other paroxysmal increasing public awareness of Amyotrophic alternate cover test See cover test. phenomena (tonic attacks, posturing, Lateral Sclerosis. Web site: http:// nystagmus, chorea or athetosis) or with www.alsfoundation.org/. autonomic disturbances, and with alternate fixation The ability of a and neurological subject to fixate with either eye with equal progressive mental 73 ALS mimic syndromes See deterioration. Ocular palsies and fixed facility. multifocal motor neuropathy, Kennedy motor deficits are additional features syndrome, motor neuropathy, described. In infancy, screaming attacks may alternate inferior paralysis See noncompressive myelopathy, spinal precede the motor manifestations.1047 The Millard–Gubler syndrome. muscular atrophy, cervical spondylitic condition may reflect mitochondrial myelopathy, hereditary spastic paraparesis, dysfunction. postpolio syndrome, hyperthyroidism, and alternate paralysis A condition In variant forms, the condition is described in the nineteenth century, in Pancoast syndrome. dominantly inherited,4355 affects all four which there is paralysis of movement on one limbs, or is a benign syndrome occurring side of the body and of sensation on the repetitively during sleep. See also periodic ALS Network A resource and support other.5103 A low brainstem lesion could syndromes. for people with ALS, their families, and account for this rare occurrence. The syndrome also appears in infantile caregivers and helps unite with other PALS hypotonia and paroxysmal dystonia, paroxysmal to educate the public about the condition. alternating abducent symptomatic alternating dystonia with hemiplegia See Raymond syndrome. hemiparesis, migraine coma, alternating ALS-Parkinson-dementia diplegia with livedo reticularis, and pyruvate syndromes See amyotrophic lateral dehydrogenase deficiency.184 alternating contraction sclerosis (variants). anisocoria A rare consequence of damage to the pathway from the pretectal area to the alternating Horner syndrome ALS Ride for Life An ALS site with Edinger–Westphal nucleus. There is The apparent alternation with time of the side charitable functions. increased reactivity of the affected eye to on which there is a Horner syndrome. This light, but the size of the pupils is equal in represents a variant in which the miosis, ptosis, and facial flushing in patients with ALS Society of Canada A charitable darkness. lower cervical cord disease alternate from side organization dedicated to providing care and finding the cure for ALS. Web site: http:// alternating current nystagmus to side over days, presumably as a result of a lesion of the ciliospinal centers of Budge.2251 www.als.ca. See vestibular nystagmus.
Alzheimer, Alois
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Another explanation would be that one side is normal but that on the other, the manifestations of the Horner syndrome alternate with those of a Pourfour du Petit syndrome.
limbs. This combination of signs signifies the presence of a lateral brainstem lesion, as in the Wallenberg syndrome or the anterior inferior cerebellar artery syndrome. See alternating sensory loss.
alternating hypoglossal hemiplegia syndrome (anterior
alternating windmill nystagmus
bulbar syndrome, De´je`rine syndrome) A vascular medial brainstem syndrome in which damage to the pyramid and twelfth cranial nerve nucleus on one side causes wasting and weakness of the tongue with anesthesia of the soft palate and posterior pharyngeal wall on the same side as the infarct; and a contralateral hemiparesis. In a variant form (alternating hypoglossal hemiplegia-hemianesthesia syndrome), contralateral numbness also occurs, due to involvement of the medial lemniscus. See also De´je`rine syndromes.
alternating nystagmus See periodic nystagmus.
alternating oculomotor paralysis See Weber syndrome. alternating parallel syndrome The association of spastic hemiparesis, cerebellar ataxia, and trigeminal analgesia on the side of a brainstem lesion, with analgesia of the trunk and limbs on the contralateral side, due to an adjacent or extending lesion affecting the cervical cord.6340
alternating sensory loss Impairment of certain modalities of sensation on different sides of the head and of the trunk and limbs. Thus, in the lateral medullary syndrome, damage to the descending spinal nucleus and tract and to the ascending spinothalamic pathway leads to loss of pain and temperature sensation over the face on the same side and of the trunk and limbs on the other side. See alternating thermoanalgesia, alternating hemiplegia.
See circular nystagmus.
alternobaric vertigo An acute form of vestibular vertigo occurring in pilots during marked change in altitude, usually following straining movements (Valsalva) designed to ‘‘clear the ears’’ and always due to obstruction of the Eustachian tubes. Nystagmus and oscillopsia are the usual accompaniments. altitude insomnia (acute mountain sickness, Acosta disease, Andes disease, Alpine sickness, hypobaropathy) An acute insomnia usually accompanied by headaches, loss of appetite, and fatigue following ascent to high altitudes. Diagnostic criteria include the following:1629 A. A complaint of insomnia B. A temporally related ascent to a high altitude (typically above 4000 m) C. Polysomnographic monitoring that demonstrates: 1. Reduced total sleep duration, decreased sleep efficiency with an increased sleep latency, and increased arousals and awake time 2. A pattern of periodic breathing during sleep 3. Oxygen desaturation during sleep D. Other medical or psychiatric disorders can be present but are not the cause of the primary complaint E. The complaint is not caused by other sleep disorders, such as obstructive sleep apnea syndrome, central sleep apnea syndrome, or other causes of insomnia. From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Medicine 1991/2001. Reproduced by kind permission of the Academy. See also http://www.sleepeducation. com/Disorders.aspx/.
alternating sequences test A test of concentration, planning, and resistance to interference, in which the subject is required to write some lines of alternating letters or altitudinal defects Visual field defects shapes.3965 which do not cross the equator of vision (but may cross the vertical meridian) and which indicate the presence of an acquired lesion of alternating thermoanalgesia A subjective diminution of the sense of sharp the retina or choroid, or of the more proximal portion of the visual pathway. They also occur pain and of temperature on one side of the with congenital hypoplasia of the optic nerve. face and the opposite side of the trunk and
altitudinal headache See highaltitude headache.
altitudinal hemianopia Loss of half of the visual field above or below the (horizontal) equator. This is usually evidence of retinal vascular insufficiency or of anterior ischemic optic neuropathy. See also hemianopia, altitudinal defects.
altitudinal neglect Neglect of half of the visual field above or below the equator. This is usually evidence of bilateral parietal lobe lesions.5197
alveolar hypoventilation DIMS (disorders of initiating and maintaining sleep) syndrome A syndrome of insomnia due to the disruption of sleep occasioned by central apnea superimposed upon hypopnea with alveolar hypoventilation, associated with daytime unresponsiveness to chemical regulators of ventilation (see also sleep disorders and Ondine’s curse).
alveolar hypoventilation DOES (disorders of excessive sleep) syndrome The appearance or worsening during sleep of conditions characterized by impaired ventilation (reduced tidal volume or respiratory rate) but without prolonged apneic spells. See sleep disorders.
alveolar sarcoma A rare malignant primary tumor of muscle occurring in children and young adults, in which muscle cell differentiation can be differentiated microscopically.
Alzheimer, Alois (1864–1915) German neuropsychiatrist and pathologist, professor of psychiatry in Munich and then Breslau. He first described the disease named for him, differentiating it from ‘‘arteriosclerotic dementia’’ on the basis of the presence of neurofibrillary tangles and refractive plaques in the presence of only minimal vascular changes in a lecture given in Tubingen in 1906, publishing this a year later. Kraepelin, with whom he was working, recognized the description as definitive and named the disease for Alzheimer in 1910. Alzheimer also made important contributions in the areas of syphilis, Huntington, and Parkinson diseases and
Alzheimer Association vascular dementias5704 although these contributions are less well remembered.
Alzheimer Association An American charitable organization with 217 chapters nationwide. Research, education, chapter formation, advocacy, and patient and family services are its goals. Funding is available for pilot and multiyear research proposals in the basic, clinical and social sciences with relevance to Alzheimer disease. Address: 919 N. Michigan Ave., Suite 1000, Chicago, IL 60611-1696. Tel: 312-3358700. E-mail:
[email protected]. Web site: http://www.alz.org. Also Alzheimer’s Association Home Page.
Alzheimer disease The proper name for what was formerly known by the pejorative term senile dementia (introduced by Binswanger in 1898). At last it has become a respectable subject for research, in part because of the economic threat that it poses to Western civilization as the population ages and the prevalence increases. Order has been brought to the clinical diagnostic
38
process by the acceptance of diagnostic guidelines (see Chart A–4). Progressive memory loss, aphasia, apraxias, and visuospatial abnormalities are the most important features. The most common genetic flaws appear to be in PS-1 (presenilin 1) on chromosome 14. Less often, PS-2, on chromosome 1, is implicated, and still more rarely, a third gene, amyloid precursor protein (APP) on chromosome 21. In all three cases, the mutations are autosomal dominant. Among them, APP encodes the polypeptide amyloid precursor protein, of which a fragment is toxic to the brain. The tangles consist mainly of tau, a microtubule-associated protein. Rare kindreds have been identified carrying tau mutations associated with a familial form of frontotemporal dementia. On the basis of the known cleavage sites in the A-beta precursor protein, a set of proteolytic enzymes had been predicted, the so-called alpha, beta, and gamma secretases. Among them, the beta and gamma enzymes liberate A-beta, while the alpha enzyme cleaves within the A-beta sequence, precluding
A-beta production. A-beta secretase has now been identified and named beta-site APP cleaving enzyme (BACE). Criteria for pathological diagnosis have also been defined: cortical atrophy, neuronal loss, ‘‘senile’’ plaques, vacuoles, neurofibrillary tangles (the earliest change observed), and meningeal fibrosis are characteristic; all were described by Alzheimer verbally in 1906 or in subsequent publications in 1907155 and 1911.3336 Internet sites of interest include: www.alz.org, www.alzforum.org, www.alzheimer.ca, and www.alzheimer’s.org; See also the Alzheimer’s Disease Fact Sheet at http://www.ninds.nih.gov/disorders/ alzheimersdisease/alzheimersdisease.htm (providing information compiled by the National Institute of Neurological Disorders and Stroke) and the Alzheimer’s Information Site at http://www.alzinfo.org/ (offering information on the disease, current research, and resources). See also dementia and frontotemporal dementia (from which the differentiation may be difficult).4304
Chart A–4. NINCDS Criteria for the Clinical Diagnosis of Alzheimer disease4600 I. The criteria for the clinical diagnosis of PROBABLE Alzheimer disease include A. Dementia, established by clinical examination and documented by the Mini-Mental State examination, the Blessed Dementia Scale, or some similar examination, and confirmed by neuropsychological tests B. Deficits in two or more areas of cognition C. Progressive worsening of memory and other cognitive functions D. No disturbance of consciousness E. Onset between ages 40 and 90, most often after age 65 years F. Absence of systemic disorders or other brain diseases that in and of themselves could account for the progressive deficits in memory and cognition II. The diagnosis of PROBABLE Alzheimer disease is supported by A. Progressive deterioration of specific cognitive functions such as language (aphasia), motor skills (apraxia), and perception (agnosia) B. Impaired activities of daily living and altered patterns of behavior C. Family history of similar disorders, particularly if confirmed neuropathologically D. Laboratory results: Normal lumbar puncture as evaluated by standard techniques; normal pattern or nonspecific changes in EEG, such as increased slow-wave activity; and evidence of cerebral atrophy on CT scanning with progression documented by serial observation III. Features that make the diagnosis of PROBABLE Alzheimer disease uncertain or unlikely A. Sudden, apoplectic onset B. Focal neurological findings such as hemiparesis, sensory loss, visual field deficits, and incoordination early in the course of the illness C. Seizures or gait disturbances at the onset or very early in the course of the illness IV. Clinical diagnosis of POSSIBLE Alzheimer disease A. May be made on the basis of the dementia syndrome; in the absence of other neurological, psychiatric, or systemic disorders sufficient to cause dementia; and in the presence of variations in the onset, in the presentation, or in the clinical course B. May be made in the presence of a second systemic or brain disorder sufficient to produce dementia, which is not considered to be the cause of the dementia C. Should be used in research studies when a single, gradually progressive severe cognitive deficit is identified in the absence of other identifiable cause Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
Amalric syndrome
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Alternative Research Diagnostic Criteria have been formulated, e.g., by Berg.549 The American Psychiatric Association DSM IV-TR diagnostic guidelines.172 differ slightly; they can be found at http://www. behavenet.com/capsules/disorders/dsm4 TRclassification.htm/. Variants include the following: Alzheimer disease with spongy changes and myoclonus A syndrome in which the onset of dementia is between the ages of 20 and 50 years, with added myoclonic seizures. Pathologically, cerebral atrophy, neurofibrillary tangles, senile plaques, and spongy changes are found in the brain.381 Familial Alzheimer disease Relatively uncommon dominantly inherited types of the disease.379 Early-onset forms are associated with the gene presenilin 1 on chromosome 14 (14q24), amyloid precursor protein on chromosome 21 (21q11.2–21q21) or presenilin 2 on chromosome 2. A later-onset form maps to chromosome l9 (19q13). In each case, the clinical picture is much the same as that in patients with the sporadic form. A dominantly inherited form associated with spastic paraparesis and non-neuritic ‘‘cotton wool’’ plaques, with a deletion of exon 9 of the presenilin-1 (PS-1) gene.879 Early-onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy.2049 Visual variant of Alzheimer disease A form characterized by early visual agnosia and abnormal contrast sensitivity without defects of acuity or color vision, slowly progressing over years to a demented state with the pathological features of Alzheimer disease.3808 Alzheimer disease with cerebrovascular disease A category of dementia reserved for patients fulfilling the clinical criteria for possible Alzheimer disease who also present clinical or brain-imaging evidence of relevant cerebrovascular disease. Early-onset Alzheimer disease A dominantly inherited variant mapping to chromosome 14q 23. Dominantly inherited Alzheimer disease with spastic paraparesis and non-neuritic ‘‘cotton wool’’ plaques, associated with a deletion of exon 9 of the presenilin-1 gene. Clinically, individuals with paraparesis at presentation have a later than average age at onset of dementia symptoms.879 Alzheimer disease with spastic paraparesis See familial British dementia. A psychotic phenotype characterized by a rapid decline in cognitive and functional capacities and a tendency toward aggressive behavior with a suggestive familial basis.6165
Alzheimer Disease and Associated Alzheimer Society of Canada— Disorders (Alzheimer Dis Assoc Disord) A Socie´te´ Alzheimer du Canada subspecialty neurological journal. Web site: http://www.alzheimerjournal.com/.
Alzheimer Disease Assessment Battery A computer-based behavioral assessment package designed to detect deterioration of cognitive functioning in Alzheimer disease.809 The battery examines intellectual deterioration, pathological memory loss, word-finding disturbance, and spatial disorientation. A selective reminding task is incorporated and word fluency, spatial disorientation, and remote memory are also assessed.
Alzheimer Disease Assessment Scale A 21-item scale designed to assess the severity of cognitive and noncognitive behavioral impairments in a patient with dementia due to Alzheimer disease. The scale includes short neuropsychological tests and items rated by the clinical examiner on the basis of observation of the patient’s behavior and after an interview with the caregiver. It is divided into two sections, the first employing short tests of memory, language, and praxis to give a cognitive sub-scale, and the second rating mood, distractibility, vegetative functions, agitation, delusions, hallucinations, and concentration to give a 10-item noncognitive subscale.5396
A charitable organization providing information on Alzheimer Disease, related dementias, caregiving, support, research, treatment, and programs and services. Address: 1320 Yonge St., Suite 201, Toronto, ON M4T 1X2. Tel: 416-925-3552.
Alzheimer type I astrocyte An astrocyte with a large lobulated vesicular nucleus and abundant vacuolated cytoplasm, resulting from aberrant cell division and described in the striatum of patients with Wilson disease and with other chronic liver diseases. Alzheimer type II astrocyte An astrocyte with a large, irregularly shaped, and lobulated nucleus encompassed by a narrow rim of poorly staining cytoplasm. It is characteristically found in patients with ammonia toxicity, as in hepatic failure. Alzheimer’s Association A charitable organization in this field. Address: 919 North Michigan Ave., Suite 1100, Chicago, IL 60611-1676. Tel: 312-335-8700; 800-272-3900. E-mail:
[email protected]. Web site: http://www.alz.org/.
Alzheimer’s Center A Mayo Clinic site offering information, explanations, and advice about treatment and care for patients with Alzheimer disease. Web site: http:// www.mayoclinic.com/health/alzheimers/ Alzheimer’s Disease Fact Sheet AZ99999. An information sheet compiled by the National Institute of Neurological Disorders Alzheimer’s Disease Education and Stroke. Web site: http://www.ninds. and Referral Center (ADEAR) nih.gov/disorders/alzheimersdisease/ A site providing data on current research and alzheimersdisease.htm/. clinical trials and with links to other Federal resources, a service of the National Institutes Alzheimer Disease Society of Health. Address: P.O. Box 8250, Silver A British charitable organization. Spring, MD 20907-8250. Tel: 301-495Address: 3rd floor, Bank Buildings, 3311; 800-438-4380. E-mail: Fulham Broadway, London SW6 1EP, UK.
[email protected]. Web site: http:// www.nia.nih.gov/alzheimers. Alzheimer Foundation An organization devoted to facilitating clinical Amalric syndrome (macular and basic research in Alzheimer disease. The dystrophy–deaf–muteness syndrome) official journal of the foundation is the A recessively inherited syndrome of Journal of Geriatric Psychiatry and Neurology. congenital partial deafness and atypical Address: 8177 South Harvard M/C-114. pigmentary retinopathy without impaired Tulsa, OK 74137. A Web site allowing night vision.156 Its similarities to Alport, access to many related sites is at http:// Cockayne, Laurence-Moon-Biedl, and Hallgren syndromes are notable. www.alz.org/
amaurosis
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amaurosis (from Gr, darkness) The term duration, lasting minutes to hours (thus used by Hippocrates for ‘‘a becoming dull of sight’’ in seventeenth-century England for the condition ‘‘when the sight is gone and no fault is to be seen.’’5886 It is now used almost exclusively for transient monocular blindness of vascular origin.
amaurosis congenita See Leber disease.
amaurosis fugax A term signifying
temporary rather than transient). Many of these patients complain of peculiar visual aberrations such as loss of or excessive contrast vision, dazzle, photographic negative imagery, flickering lights, photopsias, and dyschromatopsias. In addition, many experience a blurring or total loss of vision when they go out into (or come in from) bright light, or upon assuming a sitting or an upright position. The visual loss is often described as a concentric contraction of the visual field (‘‘iris diaphragm effect’’), especially when it is bilateral. Rarely, a patient will report blindness after eating. Often, while reading, the subject will complain that the page becomes excessively bright. Complaints of chronic ocular or retro-ocular pain of an insidious and aching nature are also recorded. In all of these cases there is severe carotid stenosis, either ipsilaterally or bilaterally, marked by low perfusion pressures on ophthalmodynamometric testing. Type III (angiospastic form) is characterized by the sudden onset of total visual loss or progressive contraction of the visual field sparing fixation. These attacks are usually short lived in terms of minutes, but may be prolonged. Direct observations of the fundus during such attacks have revealed: (a) narrowing of the retinal arteries and veins, cessation of blood flow, segmentation of the blood columns, and optic disc pallor; and (b) narrowing of the retinal veins. Fluorescein angiography reveals early filling of the optic disc capillaries with late filling (30 s) of the retinal arterioles in the former case (a), and a delay in filling of the central retinal artery in the latter (b). Many of these patients have a known migraine diathesis. Type IV (idiopathic forms) is a ‘‘wastebasket’’ category in which the signs and symptoms defy classification. The type of visual disturbance in this group of patients closely resembles that of Type I, except for the duration of the attack, which may be very short (like a transient obscuration of vision) or very long (thus resembling a type III attack). In general, the patients suffer from multiple attacks, some occurring as frequently as one or two times per day. No identifiable pathophysiological mechanism can be determined,939 but anticardiolipid antibodies may be tarred with guilt by association.
transient monocular blindness (TMB), the latter being a more precise and contemporary label. It is usually due to platelet–cholesterol emboli, but in about 20% of cases is migrainous. Since the etiological diagnosis is almost impossible to make clinically, the precision of studies of the various treatments for amaurosis is questionable. Wray has discerned four types, differentiated by their underlying pathologies and reproduced by kind permission.6875 Type I (transient retinal ischemia— embolic) is characterized by the abrupt loss of all or a part of the vision in one eye, lasting seconds to minutes, with total recovery. The partial visual impairment may be described as a curtain, ascending, descending, or moving sideways, and producing a uniocular altitudinal or hemianopic defect. Patients may experience a central scotoma, a paracentral scotoma or an area of segmental visual loss. In addition, they may complain of vertical or horizontal stationary scintillating scotomas, which may be associated with (a) vague, irregular, background shadows that rapidly move to the periphery and (b) vague, irregular shadows suddenly appearing paracentrally and moving toward the periphery in seconds. Intensely bright, tiny scintillating lights suddenly appear paracentrally and move peripherally (seconds) in a straight horizontal line, leaving behind a faint glowing line for 2 or 3 s. Most commonly, the visual loss is complete, the patient stating that ‘‘everything is completely black.’’ Vision recovers in seconds to minutes, with recovery taking longer than loss. Variants include graying, dimming, or blurring of vision. The pathophysiological mechanism is thought to be arterial occlusion due to emboli to the ophthalmic artery or to the retinal artery. amaurosis-hemiplegia Type II (retinal vascular insufficiency— hypoperfusion) is characterized by a less rapid syndrome (Espildora–Luque syndrome) onset of visual loss. In general, it is of longer Blindness in one eye with contralateral
hemiparesis, due to reflex spasm of the homolateral middle cerebral artery (as originally described), to separate emboli to that artery, or to occlusion of the internal carotid at the takeoff of the ophthalmic artery.1657 See Espildora-Luque syndrome.
amaurotic familial idiocy (Tay–Sachs disease) The original term for the gangliosidoses, applied by Bernard Sachs (1858–1954), an American neurologist. The term is now defunct, having been replaced by the names of the two broad categories of disease which the condition represents, namely the gangliosidoses and the neuronal ceroid lipofuscinoses.
amaurotic pupil A pupil that does not constrict despite maximal light stimulation of the eye, because of damage to the afferent pathway. ambient echolalia The use of words suggested by irrelevant local visual or auditory stimuli rather than by the context of the conversation. This occurs as a manifestation of delirious states and some dementias.2097 ambiguo-hypoglossal paralysis See Tapia syndrome.
ambiguo-spinothalamic syndrome See Avellis syndrome. ambiopia See diplopia. amblyaphia (Gr, dulled þ the sense of touch) Numbness. amblyopia (Gr, dulled or blunted þ eye) Impairment or loss of vision in a healthy eye which is not due to an error in refraction nor to other disease of the eye itself. Squint and anisometropia are the commoner causes, although Hippocrates used the word for dimness of vision in old age, which indicates that the use of the word has been modified substantially. Amblyopia ex anopsia is diminished vision due to suppression of images from a (‘‘lazy’’) strabismic eye.
ambulation index A simple scale of some value in assessing the stage of disease in multiple sclerosis.2477
American Autoimmune Related Diseases Association
41
AMC See arthrogryposis multiplex congenita.
younger members of the discipline. Unlike the ANA, the AAN offers ordinary membership to any individual with Board qualifications and associate and junior AMC ([Dutch] Academic membership categories are also available. Medical Centre) Linear Disability score A scale for measuring Fellows are elected from the ranks of those clinical neurologist members who have disability in patients with Parkinson 6708 attended sufficient annual meetings. disease. Dr. A.B. Baker was the prime mover in the founding of the academy in March 1948; amebiasis Infection with Naegleria or he and Drs. Forster, Aird, and Wartenberg with Entamoeba histolytica; in each case, a were the first directors. The house journal is potential cause of meningoencephalitis or of Neurology. The early history of the academy 1045 cerebral abscess. was recounted by Brown.892 Address: 2221 University Ave. SE, Suite 335, Minneapolis, ameloblastoma See MN 55414. Tel: 612-623-8115; Fax: 612craniopharyngioma. 623-3504. Web site: http://www.aan.com/. The Web site for the practice guidelines of amenorrhea-galactorrhea AAN is at www.aan.com/professionals/ syndrome The occurrence of these practice/guidelines.cfm/. problems due to the excessive secretion of prolactin by a pituitary basophilic adenoma.
American Academy of American Academy of Cerebral Neuromuscular and Electrodiagnostic Medicine Developmental Medicine
(AANEM) (formerly the American Association of Electromyography and Electrodiagnosis) A professional society concerned with education, practice American Academy of Clinical standards, and research into neuromuscular disease, founded in 1953 by Dr. James G. Neurophysiology A professional Golseth, an American neurologist. Muscle organization. Address: 5700 Old Orchard and Nerve is the official publication of the Rd., First floor, Skokie, IL 60077-1057. Tel: association. Tel: 507-288-0100. Web site: 708-966-0050. Web site: http://www.aanem.org/. www.pressenter.com/-dtjorneh/. A professional organization. Address: 2315 Westwood Ave., P.O. Box 11086, Richmond, VA 23230.
American Academy of Neurological and Orthopedic Medicine and Surgery A professional organization. Address: 320 Ranchero Drive, Suite 108, Las Vegas, NV 89102.
American Academy of Pain Management A professional specialist organization in this field. Web site: http:// www.aapainmanage.org/.
American Association of Acoustic Neuroma A professional organization. Address: P.O. Box 398, Carlisle, PA 17013. Tel: 717-249-4783; Fax: 717-249-0353.
American Association of Electrodiagnostic Technologists A professional organization. Address: Box 40, Davey, NE 68336.
American Association of Neurological Surgeons A professional society. Address: 625 N. Michigan Ave., Suite 1519, Chicago, IL 60611. Tel: 312-993-0043. Web site: http://www.aans.org/.
American Association of Neuropathologists (AANP) A professional society of neuropathologists seeking to advance research and training. The official forum of the AANP is the Journal of Neuropathology and Experimental Neurology, Web site: http:// www.neuropath.org/pt/re/aanp/home.htm.
American Association of Neuroscience A professional organization. Address: 224 N. Des Plaines, Suite 601, Chicago, IL 60661. Tel: 312-9930043.
American Association of Neuroscience Nurses A professional organization. Web site: http:// www.aann.org.
American Academy of Sleep Medicine (formerly American Sleep
American Association of American Academy of Disorders Association) A professional society Physical Medicine and Rehabilitation A professional Neurological Surgery A professional in the medical subspecialty of sleep organization. Address: Massachussetts General Hospital, Department of Neurosurgery, Fruit Street, Boston, MA 02114. Tel: 617-726-2000.
American Academy of Neurology (AAN) A leading professional organization founded in 1948 against the strident opposition of some members of the American Neurological Association (ANA), in order to cater to the educational and scientific needs of all neurologists and to be a forum for the
medicine. Its mission is to set clinical standards for the field of sleep medicine, advocate for recognition, diagnosis, and treatment of sleep disorders, educate professionals dedicated to providing optimal sleep health care, and foster the development and application of scientific knowledge in this field. Fax: 708-492-0943. Web site: http://www.aasmnet.org/.
American Association for the Study of Headache See American Headache Society.
organization. Address: One IBM Plaza, Suite 2500, Chicago, IL 60611-3604. Tel: 312 464-9700. E-mail:
[email protected]. Web site: http://www.aapmr.org.
American Autoimmune Related Diseases Association A charitable organization in this field. Address: 22100 Gratiot Ave., Eastpointe, East Detroit, MI 48201-2227. Tel: 586776-3900; 800-598-4668. E-mail:
[email protected]. Web site: http:// www.aarda.org.
American Behcet’s Disease Association
American Behcet’s Disease Association A charitable organization
American Chronic Pain Association A charitable organization
in this field. Address: P.O. Box 15247, Chattanooga, TN 37415. Tel: 800-7234238. E-mail:
[email protected]. Web site: http://www.behcets.com.
providing support and information on this condition. Address: P.O. Box 850, Rocklin, CA 95677. Tel: 916-632-0922. Web site: http://www.theacpa.org.
American Board of Clinical Neurophysiology A professional
American Clinical Neurophysiology Society
organization. Address: 1111 Lac de Ville Blvd., Rochester, NY 14618. Tel: 804627-0713.
American Board of Electrodiagnostic Medicine A body established in 1988 to control the process of specialization in this field and to oversee the recognition of those considered to be qualified in electromyography and related disciplines. Address: 21 Second St., Suite 306, Rochester, MN 55902. See also American Academy of Neuromuscular and Electrodiagnostic Medicine.
American Board of Electroencephalography and Neurophysiology A body established
A specialist professional organization. Web site: www.acns.org.
American College of Neuropsychopharmacology A professional association. Address: 134 Wesley Hall, Vanderbilt University, Nashville, TN 37240. Tel: 615-322-7417.
American Council for Headache Education (ACHE) A charitable organization concerned with public education about the nature and management of headache. Address: 19 Mantua Rd., Mt. Royal, NJ 08061. Tel: 856-423-0258; 800-255-2243. E-mail:
[email protected]. Web site: http:// www.achenet.org.
to control the process of specialization and to oversee the recognition of those considered American to be qualified in electroencephalography Electroencephalographic and related disciplines. Address: 850 Elm Society A professional organization for Grove Rd., Elm Grove, WI 53122. physicians and others with interests in basic systems neurobiology, neuroimaging, and American Board of neurobehavior. Address: 1 Regency Dr., Neurological Surgery An American P.O. Box 30, Bloomfield, CT 06002. Tel: regulatory body. Address: School of 203-243-3977. Medicine, LSU Medical Center, 1542 Tulane Ave., New Orleans, LA 70112. Tel: American Epilepsy Society 504-568-5036. A professional society promoting American Board of Psychiatry interdisciplinary communication and the and Neurology A body established in exchange of basic and clinical information 1934 to control the process of specialization about epilepsy. Address: 638 Prospect Ave., Hartford, CT 06105. Tel: 203-232-4825. and to oversee the recognition of those Web site: http://www.aesnet.org/. considered to be qualified in these disciplines.
American Brain Tumor Association A charitable association in this field. Address: 2720 River Rd., Suite 146, Des Plaines, IL 60018. Tel: 708-8279910. Web site: http://www.abta.org.
American Brain Tumor Association’s Primer A patient manual providing information about brain tumors and their treatments.
American Foundation for the Blind A charitable organization. Address:
42
the cause and treatment of headache and related painful disorders, the education of physicians and other health professionals, and the encouragement of scientific research. Address: 19 Mantua Rd., Mt. Royal, NJ 08061. Tel: 856-423-0043. Web site: http://www. americanheadachesociety.org/.
American Heart Association A charitable organization providing support and information on vascular disease including stroke. Address: 7272 Greenville Ave., Dallas, TX 7523I. Tel: 214-373-6300. Web site: www.americanheart.org/.
American Insomnia Association A patient-based organization dedicated to assisting and providing resources to insomniacs. Web site: http:// www.americaninsomniaassociation.org/.
American Journal of EEG Technology (Am J EEG Technol) A subspecialty EEG journal. Address: ASET Executive Office, 204 West 7th St., Carroll, IA 51401.
American Journal of Neuroradiology (Am J Neuroradiol) A neuro-radiological journal. Address: Waverly Press Inc., 428 E. Preston St., Baltimore, MD 21202. Web site: http:// www.ajnr.org/.
American Lyme Disease Foundation, Inc. A charitable association in this field. Address: Royal Executive Park, 3. International Dr., Rye Brook, NY 10573. Tel: 914-277-6970.
American Medical Electroencephalographic Association A professional organization. Address: 850 Elm Grove Rd., Elm Grove, WI 53122. Tel: 414-796-1149.
15 W. 16th St., New York, NY 10011. Tel: American Narcolepsy Association A charitable organization 212-620-2000. providing support and information on this condition. P.O. Box 26230, San Francisco, American Headache Society A professional organization for physicians CA 94126-6230. Tel: 415-788-4793. and others interested in the study and management of headache and facial pain, founded in 1959. Its objectives are to promote the exchange of ideas concerning
American Neurological Association (ANA) A leading professional society devoted to the
American Society of Neurorehabilitation
43
cultivation of neurological science in its normal and pathological relations, founded by William Hammond, J.J. Putnam, and others in 1875. The ANA was the first of the national neurological associations to be formed, the British one coming into existence in 1886, the French one in 1899, and the German one in 1907. The neurological trauma cases produced by the Civil War led to a great increase in interest in neurology in the latter half of the nineteenth century in the United States and the ANA flourished, with Ramsay Hunt, C.L. Dana, Bernard Sachs, Pearce Bailey, Charles K. Mills, Silas Weir Mitchell, George Beard, and James Jewell among its members. The association’s journal was the Archives of Neurology until 1975, when it sponsored the Annals of Neurology under the editorship of Dr. Fred Plum. A retrospective anniversary volume was published in 1975.1596 Membership today is by election and requires evidence of significant scientific contributions on the part of the candidate. Address: 2221 University Ave. SE, Suite 350, Minneapolis, MN 55414. Tel: 612623-2401. Web site: http:// www.aneuroa.org/.
American Nystagmus Network A nonprofit organization serving the needs and interests of those affected by nystagmus. Web site: http://www.nystagmus.org/.
American Parkinson Disease Association A charitable organization
American Society for Experimental that provides an educational, referral, and Neurotherapeutics A professional
support programme to medical professionals, patients and their families, and the public at large through regional symposia and educational literature and videotapes. The association has 48 information and referral centers, 90 chapters, and more than 350 support groups. It also sponsors research on Parkinson disease by funding Advanced Centers for Research, fellowships, and research grants. Web site: http://www. apdaparkinson.org/.
American Psychiatric Association Diagnostic and Statistical Manual A compilation, revised periodically of all psychiatric and many neurological disorders, with diagnostic criteria. The Diagnostic and Statistical Manual, IV Edition (Text Revision) is the current volume.172
organization. Web site: www.asent.org.
American Society for Neuroradiology A professional organization. Web site: www.asnr.org/.
American Society for Neurorehabilitation A professional organization. Web site: www.asnr.com.
American Society for Stereotactic and Functional Neurosurgery A professional organization. Address: Division of Neurosurgery, 636431 Fannen, University of Texas Medical School, Houston, TX 77030. Tel: 713-792-2121.
American Society of Electroneurodiagnostic Technologists The national professional organization for EEG/EP/PSG/
NCV technologists, physicians, managers, American Sleep Apnea Association A charitable organization in institutions, and students. It provides this field. Address: 1424 K St. NW. Suite 302, Washington, DC 20005. Tel: 202-293-3650. E-mail: asaa@sleepapnea. org. Web site: http://www.sleepapnea.org.
education, employment services, a newsletter, insurance services, and an annual scientific forum and publishes the American Journal of EEG Technology. Address: 204 W. 7th St., Carroll, IA 51401-2317. Tel: 712792-2978.
American Sleep Disorders Association See the American Academy American Society of American Pain Society A charitable of Sleep Medicine. Neuroimaging A professional scientific association in this field. Address: 5700 Old Orchard Rd., Skokie, IL 60077. Tel: 708966-5595. Web site: http:// www.ampainsoc.org/.
American Paralysis Association A charitable organization concerned with research, care, and treatment of spinal cord injury and other paralyzing or disabling conditions. Address: 500 Morris Ave., Springfield, NJ 07081. Tel: 201-379-2690; 1-800-225-0292. A related Web site is at: http://www.familyvillage.wisc.edu/ lib_sci.htm.
American Paraplegia Society A charitable organization providing support and information on this condition. Address: 75-20 Astoria Blvd Jackson Heights, NY 11370. Tel: 718-303-3782. Web site: http://www.apssci.org.
American Sleep Disorders Association Diagnostic Classification of Sleep Disorders See sleep disorders.
organization dedicated to the advancement of all types of neuroimaging through literature and the promotion of scientific and educational programs. Address: 2221 University Ave. SE, Suite 340, Minneapolis, MN 55414. Tel: 612-623-2404. Web site: http://www.asnweb.org/.
American Sleep Medicine Foundation A not-for-profit charitable American Society of and scientific organization established by Neuroradiology A professional the American Academy of Sleep Medicine. Address: One Wesbrook Corporate Center, Suite 920, Westchester, IL 60154. Tel: 708-492-0930; Fax: 708-492-0943. E-mail:
[email protected].
American Society for Clinical Evoked Potentials A professional organization. Address: 41 East Point Rd., White Plains, NY 10601.
association. Address: Rush Presbyterian Medical Center, 1753 West Congress Parkway, Chicago, IL 60612. Tel: 312-942-5000.
American Society of Neurorehabilitation A professional organization dedicated to improving patient care and fostering and encouraging research, teaching, and training in all areas of neurorehabilitation. Address: 2221
American Speech Language Hearing Association (ASHA) University Ave. SE, Suite 360, Minneapolis, neurological function and increase or MN 55414. Tel: 612-623-2405. Web site: decrease in muscle tone. See hyperglycinemia, homocystinuria, http://www.asnr.com/. hypervalinemia, phenylketonuria, maple syrup urine disease. American Speech Language
Hearing Association (ASHA) A charitable organization in this field. Address; 10801 Rockville Pike, Rockville, MD 20852-3279. Tel: 301-897-5700; 800-638-8255. E-mail: actioncenter@asha. org. Web site: http://www.asha.org/.
American Stroke Association A division of the American Heart Association. Address: 7272 Greenville Ave., Dallas, TX 75231-4596. Tel: 1-888-4787653. E-mail:
[email protected]. Web site: http://www.strokeassociation.org.
American Syringomyelia Alliance Project A charitable
aminoaciduria-retardationdwarfism and muscular dystrophy syndrome See Stransky syndrome.
aminoacylase 1 deficiency A recessively inherited organic aciduria manifesting as developmental delay with seizures in childhood, caused due to various ACY1 mutations.5553
Ammon, Friedrich Augustus von (1799–1861) German physician who
studied medicine in Leipzig and Gottingen, specialized in ophthalmology in Dresden, organization providing support and and was then professor of pathology and information on this condition. Address: P.O. materia medica at that university. Box 1586, Longview, TX 75606-1586. Tel: 903-236-7079; 1-800-ASAP-282. Web Ammon’s horn The hippocampus. site: http://www.asap4sm.com/. The god Jupiter was considered capable of assuming the form of a ram, in which guise American Tinnitus Association his name was Ammon. The name refers to A charitable organization providing support the shape of a ram’s horn. and information on this condition. Address: P.O. Box 5, Portland, OR 97207. Tel: 503- Ammon’s horn sclerosis Gliosis of 248-0024; 503-248-9985. the hippocampus, the most common single lesion found in the temporal lobectomy American Tourette Syndrome specimens of patients with complex partial Association A charitable organization seizures. It was first described by Sommer in providing support and information on this 1880. condition. Address: 42-40 Bell Blvd Bayside, New York, NY 11361-2861. Tel: amnemonic (Gr, lack of þ memory) 718-224-299; 1-800-237-0717. Web site: Diseases characterized by loss of memory. http://www.nlm.nih.gov./medlineplus/ tourettesyndrome.html/. amnesia (Gr, lack of þ memory) Forgetfulness, or inability to learn new amimia Loss of the power to copy material currently perceived unless gestures. repeatedly rehearsed. Amnesia exists both for events and for facts. Broca’s use of the word in the phrase verbal amnesia, meaning Amin-Amat syndrome (inverse ‘‘impaired word-finding’’, is no longer Marcus Gunn phenomenon, inverse jaw-winking) A rare condition in which the current. See also hysterical amnesia, posttraumatic amnesia, primary amnesia, homolateral eye closes as the external retrograde amnesia, topographic amnesia, pterygoid muscle moves the jaw to the and transient global amnesia. opposite side. It is due to inhibition of the levator palpebrae during the activation of the fifth nerve; in some cases this occurs as a Amnesia Association A charitable congenital anomaly.3943 organization. Address: 25 Prebend Gardens, London, W4 1TN, United Kingdom. aminoacidopathies Inborn errors of metabolism presenting usually in the amnesic aphasia Originally, a fluent neonatal period with depression of aphasia (see anomic aphasia).
44
amnesic automatisms An occasional feature of the narcolepsy complex, in which the subject acts automatically (but usually appropriately) without subsequent recall. See also transient global amnesia. amnesic shellfish poisoning See shellfish poisoning.
amnesic stroke Persistent or transient amnesic syndromes resulting from infarction in the territory of the posterior cerebral arteries, usually accompanied by visual field deficits. Rarely, unilateral (usually leftsided) infarctions in the territories of the posterior cerebral, anterior choroidal, or thalamic penetrating arteries affecting the hippocampus or thalamus may cause a similar pure amnesic state.4831 amnestic A term for diseases causing loss of memory.
amnestic aphasia A form of aphasia in which there is a failure to recall the names of people or of other nouns in conversation when they are presented visually or verbally. amnestic color anomia An inability to recall the names of colors but with retention of the ability to distinguish them.
amnestic-confabulatory syndrome See Korsakoff syndrome. amnestic disorder A disorder of memory due to bilateral lesions of the hippocampal–limbic circuit in which the subject is unable to store new memories (‘‘loss of recent memory’’) and to some extent fails to recall previously learned data. It causes significant impairment in social and occupational functioning. Classic causes are Wernicke–Korsakoff encephalopathy and herpes simplex encephalitis. Craniocerebral trauma is also one of the many other causes. The diagnostic guidelines provided by American Psychiatric Association DSM IVTR172 can be found at http:// www.behavenet.com/capsules/disorders/ dsm4TRclassification.htm/. An amnestic syndrome with anterograde, retrograde, and postevent amnesia and relative preservation of recognition memory2228 can also occur after basal forebrain infarction.
amygdala
45
amniotic bands A congenital dysmorphic syndrome caused by compression of the fetus by fibrous bands of amniotic origin in utero. The clinical results of this include omphalocele; constriction rings of the arms, legs, or digits; and syndactyly. Craniosynostosis, hydrocephalus, holoprosencephaly, encephalocele, and cranial meningocele have all been described in association.3024 amoeboid movements Variable distortions of a dilated pupil, considered to reflect excessive activity in the ciliary ganglion or of the long ciliary nerve.6617
amok A self-limited syndrome of spontaneous, wild, and murderous agitation, the word coming from Malaya, where this behavior is described with greater frequency than elsewhere, mainly in young men. Whether the cause is toxic or psychological is not determined. amorphin A structural protein in the Z-lines of muscle. amorphosynthesis 1. A variant term for constructional apraxia as a result of parietal lobe dysfunction. 2. Inability to comprehend or be aware of parts or functions of the body. Tactile extinction would be a minor form of this condition, hemiasomatagnosia a maximal form.1593
amphigory Fluent, grammatical, but nonsensical or irrelevant speech in demented patients who do not have dysphasia.2087 Central and medial temporal lobe lesions are usually responsible. amphiphilic drug myopathy Form of myopathy associated with the ingestion of large, cationic amphiphilic molecules (i.e., with both hydrophilic and hydrophobic sites). Such agents include imipramine, amiodarone, chloroquine, and colchicine.3600
amphiphysin autoimmunity The production of IgG antibodies to the synaptic vesicle protein amphiphysin in association with underlying malignancy; clinically presenting with neuropathy, encephalopathy, myelopathy, stiff-person, or cerebellar syndromes.5043
amphoamphoterodiplopia (Gr,
Amsterdam dwarfism See De both þ both of two þ double sight) Diplopia Lange syndrome. which is both uni- and binocular. The length of the word is inversely proportional to the Amsterdam Short Term importance of the condition. Memory (ASTM) test A test of memory and concentration, reported to be of amplitude With reference to an action value in detecting malingering in subjects potential, the maximum voltage difference after whiplash injury and leading to the suggestion that the cognitive complaints of between two points, usually baseline-tononmalingering postwhiplash patients are peak or peak-to-peak. By convention, the amplitude of potentials that have an initial likely to result from chronic pain, chronic 5613 negative deflection from the baseline, such as fatigue, or depression. the compound muscle action potential and the antidromic sensory nerve action amusement park stroke Stroke, potential are measured from baseline to the usually due to dissection of a vertebral artery, most negative peak. In contrast, the as a result of hyperextension of the neck amplitude of a compound sensory nerve during a roller-coaster ride.946 Headache, action potential, motor unit potential, subdural hematoma, acute anxiety, vertigo, fibrillation potential, positive sharp wave, and vomiting are other complications of this fasciculation potential, and most other leisure activity. action potentials is measured from the most positive peak to the most negative peak.19 amusia (Gr, lack of þ to do with the (From the 2001 Report of the Nomenclature Muses—in this case those concerned with Committee of the American Association of melodies) Inability to discern the elements of Electromyography and Electrodiagnosis.19 music such as rhythm, pitch, melody, Reproduced by kind permission of the modulation, intonation, and accentuation of AANEM.) musical sounds. Like aphasia, this has both expressive and receptive forms, both of amplitude decay The percent change which seem to be unusually common among people who otherwise appear healthy and in the amplitude of the M wave or the many of whom today are in the forefront of compound sensory nerve action potential composition. between two different stimulation points The faculty of musical expression is along the nerve. probably dependent on the normal function Decay ¼ 100 (amplitudedistal – amplitudeproximal / amplitudedistal.). It is said of the anterior parts of the right or left to be useful in the evaluation of conduction temporal and posterior inferior frontal convolutions. On the sensory side, tone block. Abnormal decay without increased deafness and note blindness were the other temporal dispersion may indicate a terms suggested by Knoblauch (1888) for conduction block. those disorders of communication involving music which correspond to aphasia in the Ampole syndrome A congenital realm of language. The Luria–Nebraska dysmorphic syndrome characterized also by Battery examines some such functions. short stature, strabismus, double ureters, Numerous other disorders have also been arachnodactyly, skeletal deformities, dry identified in the musical field4339 including skin, seizures, and mental and motor and sensory amusia, paramusia, musical developmental delay.381 agraphia, amnestic amusia, musical alexia, instrumental apraxia, and amimia. amputation illusion A sensation that may occur after spinal cord injury in which amyelotrophy (Gr, lack the subject feels that an anesthetic part is no of þ marrow þ nourishment) Atrophy of the longer present at all.5827 spinal cord. amputation neuroma A swelling at amygdala (Gr, almond) A nucleus, part the distal end of the proximal segment of a cut nerve, composed of bundles of randomly oriented axons (neurites), Schwann cells, and connective tissue.
of the limbic system, situated deep in the inferomesial aspect of the temporal lobe at the tail of the caudate. Its major roles are in motivation, affect, and emotional display.
amygdalar sclerosis
amygdalar sclerosis Severe neuronal loss and sclerosis in the amygdala without accompanying hippocampal pathology, associated with seizures and described in subjects who have had temporal lobe surgery for that indication.4369
In secondary amyloidosis (as with various chronic diseases, Hodgkin disease, and familial Mediterranean fever) the protein is of the AA type, derived from a plasma protein precursor in patients with chronic inflammatory disease or with malignancy such as renal cell carcinoma and Hodgkin disease. Yet other forms of amyloid protein amygdalo-hippocampal are expressed in dialysis patients and those seizures (mesiobasal limbic or with different mitotic lesions or Alzheimer rhinencephalic seizures) Hippocampal disease. seizures are the most common form; the In a variant form, AA amyloidosis may be symptoms are those described under associated with autonomic neuropathy, temporal lobe syndromes except that vestibulocochlear dysfunction, and lattice auditory symptoms may not occur. The corneal dystrophy.6413 interictal scalp EEG may be normal, or may Variant forms of amyloidosis are described show interictal uni- or bilateral temporal at http://neuromuscular.wustl.edu/nother/ sharp or slow waves, which may be amyloid.htm/. synchronous or asynchronous. The intracranial interictal EEG may show mesial amyloid angiopathy See congophilic anterior temporal spikes or sharp waves. angiopathy. Clinically, the seizures are characterized by rising epigastric discomfort, nausea, amyloid-associated muscle marked autonomic signs, and other symptoms including borborygmi, belching, pseudohypertrophy General hypertrophy of muscles attributed to the pallor, fullness of the face, flushing of the deposition of extracellular amyloid within face, arrest of respiration, pupillary skeletal muscles, producing proximal limb dilatation, fear, panic, and olfactory– stiffness, aching, and weakness.5310 gustatory hallucinations,1264 and the seizures tend to increase during REM sleep. amyloid myopathy An occasional amyloid (-amyloid protein) (from Lat, manifestation of primary systemic amyloidosis in which there is infiltration of starch) An insoluble fibrous membrane muscles with amyloid material, forming protein, part of the -amyloid precursor protein, which exhibits green birefringence nodules and compressing muscle fibers, in polarized light after staining with Congo leading to atrophy or pseudohypertrophy, weakness, hardness of muscles, macroglossia, red. It is encoded by a gene on and hoarseness. It is seen mainly in older chromosome 21. The -protein form is EMG findings are of chronic found in the CNS in neurofibrillary tangles, males. The 3202, 2336 myositis. in plaques, and in the walls of cerebral
46
amyloidopathies Neurodegenerative disorders characterized by the production/ deposition of normal or abnormal amyloid material within cells of the nervous system. Examples are Alzheimer disease, some forms of primary systemic amyloidosis, and familial British (or Danish) dementia. amyloidosis Deposition of amyloid within tissues, as occurs in familial, primary, or secondary amyloidosis. See familial amyloid neuropathy, myeloma, gammopathic neuropathy.
amylo-transglucosidase deficiency See glycogen storage diseases. amylo-1,6-glucosidase debrancher deficiency See glycogen storage diseases.
amyoplasia congenita See arthrogryposis multiplex congenita.
amyostatic syndrome (Gr, lack of þ
muscle þ standing still) An old term for tremor in Parkinson disease.
amyosthenia (Gr, lack
of þ muscle þ force) Weakness.
amyotonia congenita (Oppenheim disease) A sporadic congenital disorder characterized by muscular weakness and hypotonia at birth without local muscle wasting, mainly peripherally, and with no tendency to spread to muscles previously vessels, typically in congophilic angiopathy, unaffected. The usual course is for amyloid neuropathy Forms of Alzheimer disease, and Down syndrome. progressive improvement, even with a return neuropathy characterized by the deposition of muscle stretch reflexes. The prion protein form is also found in of amyloid (fragments of an scrapie and in Jakob–Creutzfeldt disease. Despite these guidelines to the clinical Primary amyloidosis is that form associated immunoglobulin light chain) within tissues features, so many exceptions to the original in cases of sporadic amyloidosis. Primary with the AL amyloid protein, an rules governing the diagnosis have been amyloid neuropathy presents with immunoglobulin light-chain fragment recorded that it is more likely that this is not produced by plasma cells. The same amyloid sensorimotor polyneuropathy, carpal tunnel a disease sui generis but represents either a syndrome, and autonomic neuropathy, protein is also found with multiple nonprogressive myopathy or a form of complicating renal and cardiac failure.49 myeloma, Waldenstrom hereditary motor neuropathy.6424 Secondary amyloidosis leads only to macroglobulinemia, and The term replaced Oppenheim’s myatonia entrapment neuropathies. See also familial agammaglobulinemia. The main findings congenita because the latter was too similar to amyloid neuropathy. are cardiac and renal, but painful myotonia congenita but was itself later sensorimotor and autonomic peripheral replaced at the suggestion of Walton by axonal neuropathy and amyloid myopathy amyloidoma Large deposits of amyloid benign congenital hypotonia7 and then by are neurological complications, mainly in material within the parenchyma of the the vernacular floppy baby syndrome. elderly men. Genetic forms are also nervous system and choroid plexus where See also benign congenital hypotonia, recognized; see familial amyloid neuropathy they may give rise to clinical features Oppenheim disease, hereditary motor and below. resembling those of a tumor.1232 neuropathy type I.
amyotrophic lateral sclerosis
47
amyotrophic cervical myelopathy A sporadic syndrome of asymmetric muscular atrophy of the distal upper limbs seen predominantly in young males and reported mainly from Japan.6344
amyotrophic choreoacanthocytosis (amyotrophic choreoathetosis) A rare, dominantly or recessively inherited disease with adult onset, characterized by orofacial dyskinesias, chorea, lip or tongue biting, and neurogenic muscular atrophy accompanied by atrophy of the caudate nuclei and acanthocytosis but without abnormalities in plasma lipoproteins.2591, 5732 See also neuroacanthocytosis. Criteria for the diagnosis have been suggested;3809 these include extrapyramidal movement disorders, generalized muscle weakness, acanthocytosis (1–50%), normal intelligence, and, in some cases, ataxia, epilepsy, or schizophrenia.
amyotrophic choreo-athetosis See amyotrophic chorea-acanthocytosis.
amyotrophic dystonic paraplegia A syndrome of slowly progressive dystonia, spasticity, weakness, and muscle wasting, dominantly inherited with variable expression. The dystonia affects the bulbar, trunk, and limb muscles and is accompanied over time by spastic paraparesis and later by neurogenic muscle atrophy.2385
amyotrophic lateral sclerosis (ALS; Charcot syndrome; Aran syndrome; motor neuron disease; progressive muscular atrophy; Aran–Duchenne disease; progressive bulbar palsy; progressive muscular atrophy; primary lateral sclerosis;
Mills disease, Lou Gehrig disease) A sporadic, fatal, degenerative disease of unknown cause occurring in adult life, in which pure involvement of the cranial and spinal upper and lower motor neuron systems is manifested by rapid, inexorably progressive and ultimately generalized muscle weakness and wasting and by pyramidal signs. Clinically, older adults are affected with any combination of upper and lower motor signs such as weakness, wasting, fasciculations, and hyperreflexia, witnessing damage to the bulbar and spinal motor nuclei and pyramidal tracts, although the ocular muscles are spared. The course is usually fatal within 5 years of onset. Stages of involvement based on single-fiber EMG data (early reinnervation; well-compensated reinnervation; early decompensation—late reinnervation; and late decompensation— reinnervation failure) have been defined.6159 Cognitive impairment is increasingly recognized in this condition.5318 This group includes sporadic cases with atypical features: e.g., ophthalmoplegia; nystagmus; sporadic multisystem disorders with amyotrophy, cerebellar disorder, and ophthalmoplegia; monomelic; and other restricted forms. See also motor neuronal diseases, lower motor neuron disease. Pathologically, there is loss of the large motor neurons in the cerebral cortex, brainstem, and spinal cord, leading to a combination of upper and lower motor neuron lesions. Subclinical involvement of other neuronal systems also occurs.6203 Ubiquitin-containing intraneuronal inclusions are found in the nuclei or upper and lower motor neurons. This invariably fatal disease is survived only by medical students and impressionable neurologists who notice the extent of their
(normal) fasciculations for the first time. Although it is subsumed under the category of abiotrophy, studies of the Chamorro and other Guamian peoples indicate that toxicity from ingestion of the cycad root may be the cause of the ALS–Parkinson–dementia syndromes prevalent there, and by extension it is supposed that toxic causes may in fact be important in ALS as well. More information is available at Web sites including ALS http://www.wfnals.org/links/ index.html/ ALS Association http:// www.alsa.org/ (a nonprofit health organization); the Muscular Dystrophy Association (MDA) http://www.als-mda.org/ disease/als.html; the Amyotrophic Lateral Sclerosis Information Page http:// www.ninds.nih.gov/disorders/ amyotrophiclateralsclerosis/ amyotrophiclateralsclerosis.htm (provides information compiled by the National Institute of Neurological Disorders and Stroke); the International Alliance of ALS/ MND Associations http:// www.alsmndalliance.org/ (the central coordinating body for national organizations supporting people living with ALS); the ALS Foundation for Life http:// www.alsfoundation.org/ (a nonprofit organization dedicated to increasing public awareness of ALS); and ALS Society of Canada http://www.als.ca/ (a Canadian organization providing ALS information). It is likely that the first description was given by Sir Charles Bell in 1830, but Duchenne1736, Aran,229, Cruveilhier in 1852, and Charcot1101 in 1881 further defined the condition, and it was Charcot who introduced the term amyotrophic lateral sclerosis. Marie reviewed the validity of the syndrome in 1897,4071 and Poser the diagnostic criteria for the disease.5092 Charcot also distinguished true (progressive)
Chart A–5. Stage of Involvement of Individual Muscles in Amyotrophic Lateral Sclerosis Stage
Strength
Wasting
Fiber Density
Jitter
1
Normal
None
2 3
Normal Weak and easily fatigable Very weak
None Often present Prominent
Normal/slightly increased 2.5 Markedly increased Slightly increased may be unrecordable
None/slightly increased Increased Markedly increased Prominent if recordable
4
Criteria for the diagnosis of ALS were defined at a workshop held under the auspices of the World Federation of Neurology in 19896867 and have been further revised (Subcommittee on Motor Neuron Diseases of World Federation of Neurology Research Group on Neuromuscular Diseases, El Escorial ‘‘Revisited: Revised (1998) Criteria for the Diagnosis of Amyotrophic Lateral Sclerosis.
amyotrophic lateral sclerosis
48
Chart A–6. Revised Criteria for the Diagnosis of Amyotrophic Lateral Sclerosis The diagnosis of Amyotrophic Lateral Sclerosis [ALS] requires: A – the presence of: (A:1) Evidence of lower motor neuron (LMN) degeneration by clinical, electrophysiological or neuropathologic examination, (A:2) Evidence of upper motor neuron (UMN) degeneration by clinical examination, and (A:3) Progressive spread of symptoms or signs within a region or to other regions, as determined by history or examination, together with B – the absence of: (B:1) Electrophysiological and pathological evidence of other disease processes that might explain the signs of LMN and/or UMN degeneration, and (B:2) Neuroimaging evidence of other disease processes that might explain the observed clinical and electrophysiological signs. It is generally held that the presence of any of the following excludes the diagnosis: Sensory signs (except those attributable to aging) Neurogenic sphincter abnormalities Clinical evidence of CNS disease with a natural history of progression (e.g., Parkinson disease, dementia) other than ALS Clinically evident peripheral nervous system disease with a natural history of progression (e.g., diabetic polyneuropathy, hereditary polyneuropathy) From http://www.wfnals.org/guidelines/1998elescorial/elescorial1998.htm.
and pseudobulbar palsy. His ‘‘spastic spinal paralysis’’ was probably what we call primary lateral sclerosis—a variant of ALS. Familial ALS (3 months C. Headache has developed or markedly worsened during analgesic overuse D. Headache resolves or reverts to its previous pattern within 2 months after discontinuation of analgesics
The communication of the branches of vessels with one another, as if one mouth (or open end of a vessel) were joined to another.
anaudia (Gr, negative þ speech) See aphonia. The term has also been employed for catalepsy. ancient change The presence of large, pleomorphic, scattered, hyperchromatic nuclei within Schwannomas, and particularly in long-standing acoustic neuromas.6
See Tangier disease.
overuse headache.
A. Headache present on >15 days/month with at least one of the following characteristics and fulfilling criteria C and D:
anastomosis (Gr, to bring to a mouth)
anamnestic color blindness Difficulty in finding the correct word for a colored object, errors being made in which the patient may perseverate. This is probably a combination of a mild disorder of visual perception and minimal dysphasia.
anapeiratic (Gr, to do again, to repeat exercises) The term applied by Hammond to those pareses brought on by excessive use of a body part. See occupational cramps.
anaplastic meningioma See meningioma.
anarchic hand See alien hand (limb) syndromes.
anarithmetrica See anarithmia. anarithmia (anarithmetrica) Inability to comprehend numeration and the principles of mathematics, as presumably is the case in Gerstmann syndrome. See also acalculia. anarthria Complete inability to articulate speech sounds, due to local causes or lesions of the medulla, pons, or bulbar cranial nerves. The original Greek derivation actually indicates a defect or absence of the limbs. See also logopenia.
anastic aphasia See anomia.
Ander disease See Dercum disease. Andermann syndrome 1. See Landau–Kleffner syndrome. 2. (agenesis of the corpus callosum) A recessively inherited dysmorphic syndrome characterized by agenesis of the corpus callosum and progressive sensorimotor neuropathy, presenting in infancy with delayed motor milestones, hypotonia, areflexia, and mainly distal muscular weakness. Patients start to walk with support and braces between 4 years and 8 years, but some never achieve independent gait. Progressive motor deterioration ensues with increased weakness, amyotrophy, and contractures of the distal musculature and progressive scoliosis. Most patients are confined to a wheelchair by early adolescence. The condition was first described in a French–Canadian population living in the Saguenay-Lac St-Jean region in the Province of Que´bec, Canada. Mental and developmental delay, mild distal sensory loss, progressive flaccid and distal amyotrophy with hypotonia and areflexia, nonprogressive bilateral ptosis, slight limitation of upward gaze, dysarthria, and intention tremor of the arms are other features. The progressive motor deterioration is due to increasing weakness, amyotrophy, and contractures of the distal musculature. Scoliosis occurs at the end of the first decade.1757 Dysmorphisms include elongated and asymmetrical facies, hypertelorism, higharched palate, hypoplastic maxilla, large angle of the mandible, protruding ears, short neck and low hairline, pigeon-chest deformities, long tapering fingers with digitalization of the thumbs, partial syndactyly, scoliosis, pes cavus, and overriding of the toes. Few subjects survive beyond the mid-twenties.3699
Andersen brown forehead ring
Andersen brown forehead ring (linea fusca) A brown pigmentation on the forehead, found in some patients with chronic CNS diseases, especially postencephalitic Parkinsonism and syphilis. The cause is unknown.4348
Andersen–Tawil syndrome (glycogen storage disease type IV; D-1, 4 glucan 6-glucosyltransferase brancher enzyme deficiency) A rare, dominantly inherited multisystem channelopathy characterized by periodic paralyses (all types), long QT (LQT) with ventricular arrhythmias, skeletal developmental abnormalities and dysmorphisms, caused by mutations in KCNJ2, which encodes the inward rectifier Kþ channel Kir2.1 on chromosome 17q23. The major features are hepatic cirrhosis, splenomegaly, hypotonia with muscle atrophy (especially in the legs), and delay in acquisition of motor skills.191 Multiple phenotypic variants, some with cognitive deficits, have also been recorded.6389 See also glycogen storage diseases.
54
ceramide) in endothelial and smooth muscle cells. The clinical features include a skin rash (angiokeratoma); pain and paresthesias in the extremities; abnormalities of cutaneous thermal sensation; episodic painful crises, sometimes precipitated by exercise or other stress; acroparesthesias; and a tendency toward acute ischemic hemorrhagic brain lesions. Death is due to renal failure and cerebrovascular accidents.1945, 660, 194
Andes disease See altitude insomnia. Andrade neuropathy (familial amyloid neuropathy, Portuguese neuropathy) A dominantly inherited acropathic sensorimotor and autonomic neuropathy with adult onset, complicating primary amyloidosis, in which gastrointestinal complaints (cyclic diarrhea and constipation) are common.196 Andre´-Thomas (1867–1961) French
neurologist, born in Paris, where he trained in medicine, serving under Raymond, Bouchard, and De´je`rine. After graduation he worked as chef de laboratoire for De´je`rine, Andersen, Dorothy (1901–1963) remaining at the Salpeˆtrie`re until 1917, but American pediatrician and pathologist. was not accepted onto the staff. From 1911 until his death he was attached to the Hoˆpital Saint-Joseph. He assumed the Andersen syndrome (Klein-Lisak syndrome) A rare potassium channelopathy hyphen between his Christian name and surname in order to distinguish himself from comprising potassium-sensitive periodic Andre´ Thomas, the contemporary paralysis without myotonia, ventricular arrhythmias leading potentially to syncope physiologist. His contributions to neurology extend or sudden death and dysmorphisms over about 70 years, the greater part (clinodactyly, syndactyly, hypoplastic concerned with clinical and anatomical mandible, hypertelorism, low-set ears). A studies of the cerebellum and spinal cord, prolonged QTc interval is detected in many psychotherapy, and neurophysiology. He cases; other cardiac manifestations include a commenced his studies of the development LQT syndrome, premature ventricular contractions, complex ventricular ectopy, or of the newborn at the age of 78; these culminated in his landmark book The polymorphic or bidirectional ventricular 5102 tachycardias. Tubular aggregates may be Neurological Examination of the Infant (1954, found on muscle biopsy. The deficit is linked in collaboration). to mutations in KCNJ2.6389 A dominant Andre´-Thomas sign (springlike variant has also been reported.6226 phenomenon) This is essentially the same as rebound.5333 Anderson, W. (1842–1900) English surgeon and anatomist at St. Thomas anemic headache A frontal or Hospital, where he was also a dermatologist. generalized headache, once considered to be
Anderson–Fabry disease A rare
associated with increased blood flow in patients with severe anemia.
X-linked lysosomal storage disorder due to deficiency of; -galactosidase A, which results in the deposition of neutral glycosphingolipids (mainly trihexosyl
anencephaly (Gr, lack of þ brain) (acrania, exencephaly, craniorachischisis) A lethal defect due to failure in the formation
of the cephalad part of the neural tube, resulting in the complete absence of development of the cerebral hemispheres1549 and of the vault of the skull. This developmental aberration is commonly accompanied by failure of closure of the neural tube, presenting as myelocele or meningomyelocele. It is suggested that anencephalics are capable of performing certain of those intellectual functions commonly considered to require the presence of cerebral cortex, but they seldom live long enough for evidence of this to be detected.
anerethisia (Gr, lack of þ to excite) Lack of incentive or motivation. anergy (Gr, lack of þ energy) (anergia, anenergia) Lack of strength, vigor, or energy. anesthesia (Gr, lack of þ sensation) Lack of feeling, though not necessarily of pain. The term was suggested by Oliver Wendell Holmes (1804–1894), the American physician and author, in a letter to Dr. William Morton, an American dentist who pioneered the use of pain-relieving agents in his practice. Holmes used the diphthong.
anesthesia dolorosa 1. Persistent and painful anesthesia or hypesthesia in the distribution of the trigeminal nerve or one of its divisions or of the occipital nerves, occurring most often after rhizotomy or thermocoagulation performed for treatment of classical trigeminal neuralgia. Diagnostic criteria have been defined: A. Persistent pain and dysesthesia within the area of distribution of one or more divisions of the trigeminal nerve or of the occipital nerves B. Diminished sensation to pin-prick and sometimes other sensory loss over the affected area C. Presence of a lesion of the relevant nerve or its central connections From the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.
2. Painful insensitivity of a body part, occurring as a result of incomplete nerve injury, usually traumatic or postherpetic.
angioma
55
anesthetic leprosy (Danielsson– Boeck disease) A form of leprosy in which hyperesthesia gives way to anesthesia with mutilation.1443 See leprosy.
aneurysm (Gr, a widening) An expansion of the diameter of a blood vessel, usually an artery, due to disease of its wall. Various forms occur: Berry (‘‘saccular’’) aneurysms (naturalistic, not eponymic) are focal ‘‘blowouts’’ at points where arteries bifurcate, at which sites there is attenuation of the medial muscular and of the elastic layers of the arterial wall. They are found on the vessels of the anterior circulation in 85% of cases; in 25% of cases, more than one aneurysm is present. Cirsoid (Gr, enlargement of a vein þ likeness) or racemose (Lat, clusters) aneurysms are irregular dilatations of arteries, leading to many sinuous bulges. Dissecting aneurysms are those occurring in both intracranial and extracranial arteries in which there is a tear in the media, the blood under pressure rupturing and splitting the media before tracking back into the true lumen of the vessel at a higher level. Fusiform aneurysms (dolichoectasia, atherosclerotic aneurysm) are dilatations of the whole circumference over a length of the vessel, mainly caused by atheroma. They are found most commonly in the vertebrobasilar and internal carotid arteries in elderly people, and they produce symptoms mainly by compression of adjacent structures.2051 Mycotic aneurysms are focal dilations of cerebral arteries resulting from inflammation of the walls of the vessels, tending distally and usually occurring as a complication of bacteremia.
aneurysm of the great vein of Galen Aneurysmal dilation of this vein as a result of the shunting of excessive amounts of arterial blood into it, seen in infants with developmental cerebrovascular anomalies such as arteriovenous malformations. In early infancy, the usual presentation is with high-output cardiac failure, accompanied by a cranial bruit,5875 while in later months the aneurysm may act as a mass lesion causing aqueductal compression and resulting hydrocephalus; seizures and dilated scalp veins are other features of note. When the presentation is not until later childhood, seizures, the effects of intracranial bleeding, and both brainstem and cerebellar findings are commonly noted, but usually no bruit is audible.
anfracta cerebri The cerebral fissures. thrombosed arteriovenous angioma, and cavernous angioma.
anfractuosity (Lat, a turning or bending around) Applied to the sulci between the cerebral convolutions.
angiography A series of techniques for
visualizing the anatomy and pathology of the arterial system by means of the injection of Angelman syndrome (happy puppet radio-opaque dyes with X-ray imaging, ultrasound (Doppler studies), or magnetic syndrome (OMIM 105830) A congenital resonance imaging. neurobehavioral disorder characterized by The first of these was introduced by the brachycephaly, microcephaly, and a horizontal depression in the occipital bone; Portuguese surgeon Egaz Moniz in 1936, cerebral atrophy and primary optic atrophy; providing the first opportunity for physicians to obtain even an indirect representation of the multifocal seizures with hypsarrhythmia; ataxic, jerky (puppet-like) limb movements intracranial structures. A history of 2642 (hence the alternative name); prognathism; angiography has been written by Gurdjian. unusually protrusive tongue; easily provoked and prolonged paroxysms of laughter but no angioid streaks (Knapp syndrome) speech; hypopigmentation; and mental and Brown or gray lines visible on the retinae. developmental delay.204 A microdeletion at They represent defects in Brusch’s chromosome 15q11–q13 is present, almost membrane or other retinal degenerative changes and resemble blood vessels, except always of maternal inheritance. See also Prader–Willi syndrome, in which that they are not usually directed radially. Angioid streaks are typically seen in the same deletion is of paternal inheritance, pseudoxanthoma elasticum but also occur in and http://www.ninds.nih.gov/disorders/ other diseases of the retinal vessels3493 and angelman/angelman.htm/. are occasionally found in normal subjects. Angelucci syndrome (allergic conjunctivitis syndrome) A syndrome of angiokeratoma Warty growths in the recurrent conjunctivitis, often associated skin with telangiectasia, the skin lesion with dermal and mucosal pruritic lesions and clustered in the swimming trunk area, occasionally with signs of proximal characteristic of Anderson–Fabry disease myopathy.205 The cause is unknown. and in Mibelli disease, described first in 1877 by Dr. E.W. Cottle (d. 1919), an English physician.5619 angiectasia (Gr, a blood vessel þ dilation) Pathological widening of the blood vessels, usually applied to dilatation of the angiokeratoma corporis capillaries (telangiectasis). diffusum (universale) (Fabry disease) See Anderson–Fabry disease. angiitis See primary angiitis of the nervous system and Ab related-angu¨tis. angiolipoma A rare benign tumor composed of adipose tissue and abnormal vascular elements, usually in the posterior angioblastic meningioma See epidural space of the spinal canal and meningioma. sometimes infiltrating local bone.2163
angiodysgenetic myelomalacia See subacute necrotizing myelopathy (Foix– angioma A common vascular Alajouanine syndrome). malformation (rather than a true neoplasm), comprising four types: angioendotheliomatosis Invasion Arteriovenous malformations of cerebral and other blood vessels by Capillary telangiectases Cavernous angiomas (cavernomas) Compact anaplastic malignant cells.
angiographically occult CNS vascular malformation Slow-flow vascular lesions within the brain which appear avascular on angiography. They include venous angioma, telangiectasis,
aggregations of sinusoidal blood vessels with minimal or no neural tissue between the vessels, most common within the brainstem and in Sylvian regions and sometimes multiple. Calcification may occur. Clinically, bleeding is uncommon, but seizures may occur.
angioma capillare et venosum calcificans Venous angiomas (developmental venous anomalies) Common malformations consisting of loose collections of venous channels with intervening neural tissue, situated anywhere in the nervous system and often multiple. They are seldom symptomatic.
Angioma Alliance Web site A resource for cavernous angioma information and support.
angiostrongyliasis An infestion by Angiostrongylus cantonensis, acquired through the ingestion of inadequately cooked snails, prawns, or frogs, or the vegetable matter upon which they have resided. Both sensory radiculopathies and CNS infestation are the main complications.
Anglade, Dominique (b. 1867) French neurologist who first demonstrated
angioma capillare et venosum the value of Victoria Blue as a staining calcificans See Sturge–Weber syndrome. technique for neuroglia, according to angiomatosis meningooculofacialis See Sturge–Weber syndrome.
angiomatosis retinae (cystica) See von Hippel–Lindau disease.
angiomatosis retinocerebellaris See von Hippel–Lindau disease.
angiomatous malformation See arteriovenous malformation.
angiomatous meningioma See meningioma.
angioparalytic hemicrania See
failure of differentiation of sweat glands.4019 See also Riley–Day syndrome, multiple system atrophy, familial amyloid neuropathy.
anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) An X-linked recessive syndrome comprising anhidrosis, hypotrichosis, saddle nose, dental anomalies, periorbital pigmentation, and sometimes mental delay.6450
Lase`gue.3708
angle tumors Conventionally synonymous with cerebellopontine angle tumors. The typical syndrome was first described in accurate detail by Cushing,1390 who noted that there had been reports as far back as 1830 but based his account on a personal series of 30 such cases. Tinnitus; deafness; vertigo; suboccipital discomfort; frank cerebellar signs; involvement of the fifth, sixth, seventh, and bulbar cranial nerves; features of raised intracranial pressure; and ‘‘cerebellar crises’’ (extreme suboccipital pain with neck retraction and reduction in consciousness, angor animi, bradycardia, and apnea, indicating intermittent increases in intracranial pressure) occurred, generally in that order.
hemiplegic migraine.
angular gyrus syndrome The angiopathia retinae juvenalis See clinical effects of damage to the heteromodal Eales disease.
56
cortex adjacent to Wernicke area, including any combination of anomia, alexia, acalculia, angiopathic myopathy An ischemic constructional deficits, dysgraphia, defects myopathy complicating polyarteritis nodosa in finger identification, and left/right naming difficulties. See also Gerstmann or giant-cell arteritis.3724 syndromes, alexia. angiopathic neuropathy Typically, a multiple mononeuropathy causing pain, anhedonia A term used mainly in weakness, and sensory loss in the psychiatry, signifying the inability to distribution of a number of nerves as a result experience pleasure and loss of the power of of numerous nerve microinfarcts in smallenjoyment. By extension, it represents a vessel occlusive diseases, causing both axonal telling symptom of depressed affect. damage and demyelination. Diabetes and polyarteritis are the more common anhidrosis (Gr, lack of þ sweat) Absence causes.1775 of sweating; a local phenomenon with damage to postganglionic sympathetic cholinergic angiophrasia The repetitive insertion of pathways, or a generalized problem as a result a meaningless sound into otherwise normal of degenerative or chemically induced speech, as in ‘‘hemming and hawing.’’ sympathetic failure. Generalized anhidrosis is a rare congenital or acquired disease with heat angiosarcoma A vascular sarcoma. intolerance and lack of sweating with or without autonomic neuropathy. angiosclerotic paroxysmal The condition may occur congenitally as a myasthenia (Determan) See Charcot. recessively inherited trait in which there is a
anhydromyelia (Gr, lack of þ water þ marrow) Deficiency of CSF. anima (derivative of Lat, soul or spirit) The soul or vital life-force, applied also to the intellectual principle of humans.
aniridia A dominantly inherited congenital malformation characterized by absence of the iris, usually bilaterally associated with photophobia, amblyopia, nystagmus, and sometimes ataxia.5772 Other anomalies are also described in a few of the patients. In a variant form (aniridia, mental retardation, genital abnormalities), these features and nystagmus, cataract, and glaucoma are found in association with abnormalities of chromosome 11p13.4674 See also Gillespie syndrome. aniseikonia Perception of one object viewed by the two eyes as having two different sizes or shapes. anismus Constipation due to functional obstruction of the pelvic outlet by paradoxical contraction of the striated sphincter muscles during defecation straining. This may represent a focal dystonia.4163
anisocoria (Gr, negative þ equal þ pupil) Inequality of the diameter of the pupils of 0.4 mm or more, suggesting the presence of a lesion of the sympathetic pathway to the eye on one side or of the parasympathetic pathway on the other if any disease is present at all. In this form, simple, essential, or central anisocoria, the pupils react to light and accommodation, the difference in their size is maintained under different conditions of illumination, and pharmacological responses
anorgasmia
57
are normal. The condition is regarded as a normal variant.
anodyne (Gr, lack of þ pain) An analgesic medicine; until the earliest part of this century the word was applied to drugs such as opium, chloroform, and hemp, only the last of which is easily obtainable today.
anisometropia (Gr, negative þ equal þ measure þ eye) A difference in the refraction of the two eyes, or a difference in the anteroposterior diameter of the two eyes. anoetic Capable of thought. In each case, it is a common cause of amblyopia. anomalous reflex A reflex with no known survival value, e.g., vomiting with anisomorphic gliosis The irregular vertigo. orientation of the glial fibers in severely anomia (from Lat, deprivative þ a name) damaged neural tissues. The inability to generate and utter names; a anisosthenic (Gr, negative þ the same þ facility impaired in all forms of aphasia but also in many cerebral diseases not causing strength) Inequality in the force of aphasia. Four forms are distinguished:527 contraction of different muscles. ankyloblepharon The presence of a variable degree of fusion of the lid margins, a malformation that may be dominantly or recessively inherited.
ankylosis (from Gr, the bend of the arm) A stiffening of a joint by disease. Annals of Neurology The journal of the American Neurological Association (Web site: http://www.aneuroa.org/) and of the Child Neurology Society (Web site: http://www.childneurologysociety.org/), publishing articles on all aspects of the human nervous system, both normal and abnormal, published by Wiley-Blackwell Publications. Wiley InterScience (Web site: http://www3.interscience.wiley.com/ journal/76507645/home)
annectant gyri The convolutions passing from the parietal to the occipital lobes.2531
Word-production anomia The patient knows the required name but is unable to produce it correctly without some form of cuing, because of difficulty in initiating articulation, or in evoking the word, or as a result of paraphasia. Word-selection anomia A pure word-finding problem in which the patient can recognize and describe the function of the object presented, but cannot evoke its name. Semantic anomia A failure of both the comprehension and the use of the name of an object; a situation in which the word has lost its semantic meaning for the patient. Disconnection anomia Inability to evoke the name of an object presented in one modality while the word is recalled when it is presented in another (modality specific anomia); a naming failure in a single category only, such as color (category-specific anomia); and inability to name an object recognized after placement in the left hand, as after callosal section (callosal anomia).
See also progressive pure anomia.
lack of traces even of ocular development as the result of failure of formation of the primary optic vesicle.3087 See also the syndromes of Goldenhar, Wildervanck, Franceschetti, and Hallermann and Streiff. Another variant is anophthalmia with intracranial germinoma, a congenital syndrome in which the anophthalmia is complicated by polyuria, hypopituitarism, hydrocephalus, cerebral teratoma, and mental and developmental delay.381
anopsia (Gr, lack of þ vision) Loss of sight.
anorexia hysterica See anorexia nervosa.
anorexia nervosa (Gr, lack of þ appetite) (apepsia hysterica; anorexia hysterica) An eating disorder (psychogenic food refusal) characterized by an exaggerated fear of obesity, a desire for thinness, and a distorted body image. Refusal of food leads to drastic weight loss, often accompanied by overexercising and the abuse of laxatives. With this, there is a disturbance in perception of body image such that the subject claims to feel fat even when emaciated or believes that one area of the body is ‘‘too fat’’ even when this is obviously not the case. Total body weight is at least 15% below the expected weight, and in females, thre will be absence of at least three consecutive menstrual cycles when otherwise expected to occur (primary or secondary amenorrhea). The APA diagnostic guidelines may be found at: http://www. psychiatryonline.com/content.aspx?aID¼ 3617. The condition was first described by Richard Morton in 1689, but there is some evidence that Mary, Queen of Scots, had suffered from this disorder in the previous century. The name was coined by Sir William Gull in 1874 but is not fully accurate, as many patients retain a feeling of hunger at least until well into the illness.995, 2285 It was also described by William Hammond (Fasting Girls, 1879, New York, Putnam’s Sons), who, however, showed that in some cases their allegations that they had not eaten for weeks or months were fraudulent.
anomic aphasia The most common form of aphasia, characterized by fluency, Annual Review of Neuroscience retention of repetition, and fair or good (Annu Rev Neurosci) A neurological/ comprehension but poor naming ability. The neuroscience review book series published by anomia is a defect of naming, not of Annuals Reviews Inc. Address: Annual recognition. Semantic errors and the use of Reviews Inc., 4139 El Camino Way, Palo circumlocutions and general words (‘‘thing,’’ Alto, CA 94303-0897. Web site: http:// ‘‘whatsit,’’ ‘‘you know’’) for specific nouns are neuro.annualreviews.org/. characteristic. The lesion is of the low angular gyrus and posterior middle temporal anodal block A local block of nerve gyrus but the phenomenon is also a socially conduction caused by membrane pervasive form of communication (?) in hyperpolarization under a stimulating modern teenagers. anorgasmia Inability to experience anode. orgasm, due to psychological reasons, medications, local genital causes, or lesions anophthalmia (Gr, lack or þ eye) A of the anterolateral spinal cord or of the nervi anode The positive terminal of an electric rare, usually recessively inherited craniofacial malformation characterized by a erigentes.566 current source. Cf. cathode.
anosmia
anosmia (Gr, lack of þ smell) Loss of the sense of smell. When unilateral, it suggests the presence of local nasal disease or of a mass lesion such as a meningioma, glioma, or abscess in the anterior cranial fossa; when bilateral, its localizing value is diluted and either local nasal or intracranial disorders may be responsible. The condition may be inherited as an autosomal dominant trait.5866 See also Kallmann syndrome. anosognosia (from Gr, nosos [illness] and gnosis [knowledge/awareness] [denial syndrome]) A term introduced by Josef Babinski for the unawareness or denial of physical deficits.325 This is seen most often with lesions of the right parietal lobe, in which case the unawareness is of the deficits on the left side of the body. This may actually lead to denial of ownership of a (paretic) limb, usually the left, in patients with infarct of the right supramarginal cortex or the thalamocortical radiations projecting to it. In a minor key, the phenomenon consists merely of unconcern about an admitted deficit. Denial of numerous other kinds of deficit such as those of memory, sight, praxis, or speech also occurs. Anosognosia may also be a feature of Alzheimer disease. See also simultagnosia.
58
ansa subclavia The left recurrent
anterior cavernous syndrome A
laryngeal nerve.
syndrome of painful ophthalmoplegia with Horner syndrome and trigeminal anesthesia It was first antagonist 1. A muscle, the main action due to a lesion in this situation.3113 described in detail by Jefferson and later of which opposes the function of another by Foix in 1925. See Tolosa–Hunt (agonist) muscle. See also synergist. syndrome. 2. A chemical substance that binds to a receptor and inhibits its activity.
antagonistic anterior tibial reflex (Piotrowski reflex) Plantar flexion at the ankle in response to a tap on the tibialis anterior muscle belly. The reflex is sometimes elicited in patients with pyramidal lesions. See Piotrowski sign.
antagonistic reflexes Occasional variant forms of the usual muscle stretch reflexes, modified in certain conditions by the underlying pathology and by the method of elicitation.6656
antalgic (Gr, against þ pain) Analgesic. antalgic gait Limping as a result of pain felt (from any cause, such as arthropathy) during walking. antebrachium (Lat, before þ arm) The forearm.
anosognosic graphopmimia See
anterior cerebral artery syndromes Occlusion of the main trunk proximal to Heubner’s artery leading to severe contralateral hemiplegia with sensory loss in the leg, urinary incontinence, emotional and intellectual changes, and left-sided apraxia with a right-side occlusion, or transcortical aphasia if it is on the left. Sensory neglect and micrographia have also been described in this circumstance. Abulia is associated with frontal pole, corpus callosum, and cingulate gyrus infarcts. Callosal infarcts often induce a grasp reflex. Occlusion distal to Heubner’s artery leads to hemiplegia with crural predominance, indefinite sensory impairment, left-sided ideomotor apraxia, forced grasping and groping in the left arm, dysphasia with a leftsided occlusion, and emotional and intellectual changes. Main stem occlusions distal to this point lead to crural paresis and mental changes only. Occlusion of Heubner’s artery alone leads to hemiparesis affecting the arm more than the face or leg, and occlusions of other arterial branches cause varying degrees of crural weakness only.1324 The most severe motor dysfunction occurs with involvement of the supplementary motor area/paracentral lobule.
antecollis (Lat, before þ neck) A focal dystonia characterized by sustained anoxic myelopathy The occurrence of involuntary contractions of the neck symmetrical gray matter lesions in the spinal muscles, which result in abnormal flexion of cords of patients who had suffered systemic the head on the neck. See cervical dystonia. anoxic episodes or circulatory arrest. These changes, though generalized, are most anterior (rostral) In front. anterior choroidal artery A branch marked in lumbosacral regions.315 of the internal carotid artery supplying part anterior agraphia See agraphia. of the posterior limb of the internal capsule, anoxic seizures A heterogeneous the lateral geniculate body, the globus group of paroxysmal events that include anterior alexia See alexia. pallidus, part of the optic radiation, and the some degree of abrogation of consciousness middle third of the crus cerebri. Occlusion and various motor and sensory phenomena leads to a constant clinical picture. See anterior apraxia See apraxia. occurring as a result of cortical anoxia and anterior choroidal artery syndrome. representing a type of nonepileptic seizure.
hypergraphia.
anterior bulbar syndrome
Anterior spinal artery occlusion causing ischemic infarction of the pyramid, the twelfth cranial nerve, and possibly the ansa hypoglossi A looped branch medial lemniscus, thus producing a running between the twelfth cranial nerve homolateral hypoglossal paralysis and and the cervical plexus. contralateral hemiparesis (and hemianesthesia). It was first described by ansa lenticularis A fiber tract carrying De´je`rine.3113 See also alternating impulses from the globus pallidus to the hypoglossal hemiplegia syndrome, thalamus. De´je`rine syndromes.
ansa (Lat, a handle) A curved structure.
anterior choroidal artery syndrome (von Monakow syndrome) The occurrence of contralateral hemiplegia, hemianesthesia, and homonymous hemianopia without cognitive deficit, due to occlusion or hemorrhage of the artery with infarction of the posterior limb of the internal capsule or the medial globus pallidus, the ventral posterolateral thalamus, and the lateral geniculate body.6027
anterior spinal artery syndrome
59
Left-sided spatial neglect and minor speech disturbances may also occur according to the side of the infarction.1529 Despite the eponymous attribution, Foix and Chavanay gave a complete description in 1925.2140
anterior cingulate gyrus epilepsy A variety of frontal focal cortical epilepsy involving the pericallosal gyrus. It has variable clinical manifestations including head turning, head dropping, apparent absences, and psychotic behavior and there is no typical EEG pattern.5523
anterior cingulate syndrome Apathy, akinesia, drowsiness, and mutism, said to be fatal in weeks, in which case the causative lesion is more likely to be of the thalamus with secondary expansion effects on the corpus callosum, since surgical removal of the anterior cingulate gyri causes no such signs.
anterior cornual syndrome (Schantz syndrome) Damage to the anterior horn cells in a segment of the spinal cord, resulting from any one of the various possible pathologies.
anterior crural syndrome See anterior tibial syndrome.
anterior encephalocele The congenital appearance of a frontal cranial meningocele. See dysraphism. anterior ethmoidal nerve syndrome Bilateral recurrent nasal pain or severe headache with neck stiffness lasting a day or more at a time.948 The nature of this condition requires further study.
anterior frontopolar region seizures A form of epilepsy. The patterns of which include forced thinking or initial loss of contact and adversive movements of head and eyes, with possible evolution including contraversive movements and axial clonic jerks and falls and autonomic signs. (From the revised ILAE Classification,1264 reproduced by kind permission from Wiley-Blackwell Publications.)
anterior horn cell disease with cerebellar hypoplasia in infants See hereditary motor neuropathy (variants).
anterior horn cell disease with pontocerebellar hypoplasia See
nevertheless, over a quarter of the patients have no detectable underlying disease. Clinically, the major features are abrupt hereditary motor neuropathy (variants). painless visual field loss, with an altitudinal defect and pallor and swelling of all or only a anterior inferior cerebellar sector of the optic nerve head, later leading artery syndrome The constellation of on to optic atrophy. Peripapillary signs following infarction of the territory hemorrhages are commonly seen in the acute supplied by this artery. stages.703 The signs include vertigo and nystagmus; tinnitus and homolateral deafness; gait and anterior midline structure homolateral limb ataxia; homolateral facial syndrome See Zeman–King syndrome. palsy; alternating thermoanalgesia (homolateral face and contralateral trunk and limb involvement); and homolateral Horner anterior opercular syndrome (Foix-Chavanay-Marie syndrome, faciosyndrome. linguo-pharyngo-masticatory diplegia) Loss of voluntary control of facial, pharyngeal, anterior internuclear lingual, masticatory, and sometimes ocular ophthalmoplegia See internuclear muscle activity due to bilateral anterior ophthalmoplegia. It is not certain that Lutz perisylvian lesions involving the primary and Lhermitte’s differentiation between the motor cortex within the frontal and parietal so-called anterior and posterior forms of the opercula. Bilateral opercular polymicrogyria syndrome is appropriate. or infarction is the usual cause.4053 Clinically, the acquired form of the condition is characterized by acute onset, anterior interosseous nerve inability to perform voluntary movements syndrome (Kiloh–Nevin syndrome) with the bulbar muscles, decreased gag Weakness and wasting of flexor pollicis longus, of that part of the flexor digitorum reflex, and absence of emotionalism. In the profundus innervated by the median nerve, developmental form, inability to protrude or wiggle the tongue, seizures, mild mental and of pronator quadratus as a result of retardation, and brisk reflexes with normal proximal compression of the anterior Babinski responses are typical features.2139 interosseous branch of the median nerve Bilateral infarcts or herpes encephalitis are between the two heads of pronator teres, usually responsible. See also bilateral central usually by a fibrous band or as a result of macrogyria: epilepsy, pseudobulbar palsy, local trauma.4728 and mental retardation. Clincally, there is weakness in flexion of the terminal phalanges of digits I–III, through its innervation of the flexor anterior sacral meningiocele digitorum profundus I and II, flexor pollicis Herniation of the dural sac that contains longus (FPL), and pronator quadratus. cerebrospinal fluid and sometimes neural Sensation is preserved. elements through a defect in the anterior The flexor carpi radialis and flexor surface of the sacrum. Constipation and digitorum sublimis are spared, being urinary incontinence with evidence of a supplied by the main trunk of the median pelvic mass are the usual presenting features. nerve. The pronator teres is seldom affected. See also pinch sign. anterior slow alpha of drowsiness An EEG pattern recorded in drowsiness from midline frontocentral anterior ischemic optic regions; also distinct from true alpha activity neuropathy Infarction of the laminar 884 and retrolaminar parts of the optic nerve due by virtue of being slightly slower. to small-vessel disease of the choroidal or posterior ciliary branches of the ophthalmic anterior spinal artery syndrome arteries. The condition is most commonly (Beck syndrome) Infarction of the anterior associated with hypertension or giant cell portion of the spinal cord due to occlusion of arteritis (when it is frequently bilateral), the anterior spinal artery, leading abruptly to other collagen–vascular diseases, drusen, pain, pyramidal and spinothalamic deficits, diabetes, and such vascular disorders as and loss of sphincter control below the level hypotension resulting from blood loss; of the lesion and to pain, hyperalgesia, and
anterior spinal hernia evidence of a lower motor neuron lesion at its site. The senses of vibration and of joint position are spared. Such infarcts are most usual in thoracic regions, the clinical picture varying with the level of cord involvement. Aortic dissection, syphilis, and aortic surgery are the most common causes of the condition which was first described by Preobrashenski in 1904,5113 although a fuller account was later provided by Beck.468
anterior spinal hernia Thoracic myelopathy due to anterior spinal artery segmental branch ischemia in a cord chronically trapped in a congenital anterior meningocele.6747
60
anterocollis A form of sporadic focal dystonia.
anterograde Forward. anterograde amnesia 1. (anterograde memory deficits) Loss of the capacity for learning new material which may lead to decreased attention and inaccurate perception. This term corresponds to memory difficulties as they are usually understood. Cf. retrograde amnesia. 2. Loss of recall for events following a neurological insult. Anterograde memory is commonly the last function to return after recovery from loss of consciousness.
anterior-superior cerebellar anthrax meningoencephalitis artery syndrome The clinical picture The major neurologic complication of
resulting from infarcts in the territory of this artery.5081 The typical clinical presentation includes dysarthria, unsteadiness and/or vertigo, homolateral limb ataxia, and dysmetria with axial lateropulsion, but it may also mimic the lacunar dysarthriaclumsy hand syndrome. Coma at onset (or delayed) and tetraplegia are also described. Cardiogenic embolism is the commonest single cause.
infection by Bacillus anthracis through the skin or by inhalation; a fulminant and rapidly fatal hemorrhagic meningoencephalitis with dark necrotic pustules forming in the skin of the extremities, fever, malaise, meningism, delirium, stupor, or coma. Gram-positive rods are found in the CSF and there are multifocal areas of unexplained intracerebral hemorrhage on CT scans.3691, 4343
anterior tarsal tunnel syndrome anthropology The study of the Entrapment of the terminal parts of the mixed deep peroneal nerve below the inferior extensor retinaculum, presenting clinically with numbness and tingling over the first web space of the foot and frequently with a Tinel sign over the sensory branch of the deep peroneal nerve on the anterior aspect of the ankle.5088
anterior tibial sign Involuntary extension of the hallux with forcible flexion of the hip; seen in pyramidal lesions.5333
characteristics of past and present human populations. Subdivisions of anthropology include the sociocultural, archeological, biological, and linguistic branches.
anthropomorphism The ascription of human characteristics to animals. anti- (Lat, against) A prefix signifying ‘‘in opposition to.’’ antiamphiphysin antibodies
anterior tibial syndrome (anterior crural syndrome; march syndrome) Pain in the anterior tibial compartment with weakness of the muscles and sensory loss in the distribution of the anterior tibial nerve, due to swelling of the muscles with a resultant increase in local pressure below the fascial covering of the compartment, and with subsequent ischemic necrosis of all the soft tissues within it.4529 The condition was first described by Karl Beck, and later by Vogt in 1943.
Antibodies detected rarely in patients with breast cancer who manifest paraneoplastic encephalomyelitis or stiff-person syndromes.1422
antibasal ganglion antibodies Markers of the presence of a postinfectious autoimmune inflammatory disorder, usually following a streptococcal infection. The syndromes include Sydenham chorea, PANDAs, and acute disseminated encephalomyelitis.
anti-CAR antibody An antibody used as a marker for (small-cell lung cancer) cancer-associated retinopathy. Such antibodies may be detected in some patients with small-cell lung cancer who manifest photoreceptor degeneration.1422 anticardiolipin antibodies Circulating immunoglobulin A, G, and M antibodies associated with a tendency toward arterial or venous thrombosis and thrombocytopenia, in part as a result of inhibition of prostacycline release from the endothelial walls. Associations with ischemic (multiple) cerebral infarction, Sneddon syndrome, chorea, seizures, optic neuritis, acute inflammatory demyelinating polyneuropathy, and migraine have been shown.618
anticholinergic syndrome The association of fever, flushing, dilated pupils, and drowsiness, delirium or coma, sometimes with extrapyramidal signs, as a result of a toxic reaction to anticholinergic drugs.2001 anticipation The presentation of a genetic disease earlier and more severely in succeeding generations. It is seen mainly in dominantly inherited diseases such as myotonic dystrophy, hereditary spastic paraplegia, and Huntington disease. anticipatory nystagmus Predictive, slow eye movements that occur prior to ramp or step target movements of the eyes, interspersed with saccades in the opposite direction.1561 See induced nystagmus. anticipatory postural reflexes Alterations of the position of the trunk and limbs prior to the performance of a movement of the whole body. An example is the truncal and leg flexion which precedes the rising from a chair.4723 (Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.)
anticonvulsant A drug that inhibits epileptic seizures. As many such agents have other effects (such as inhibition of activity in pain pathways), use of the term is only appropriate in the context of epilepsy.
61
cancer and neuroblastoma are the more anti-CV2 antibodies Antibodies common underlying tumors.4437, 1421 detected in some patients with small-cell lung cancer who manifest encephalomyelitis or cerebellar degeneration syndromes.1422 anti-Jo-1 antibodies Antibodies present in some syndromes characterized by muscle weakness and pain, the Raynaud antidepressant A drug that elevates lung disease, depressed mood. As many such agents have phenomenon, interstitial 4528 arthritis, and skin rashes. other effects (such as the prophylaxis of migraine), use of the term is only appropriate anti-Ma antibodies Antibodies in the context of depression. detected to Ma1 and Ma2 proteins in patients with various cancers who manifest antidromic Propagation of a nerve paraneoplastic limbic, cerebellar, and impulse in the direction opposite to brainstem syndromes.1422 physiologic conduction—e.g., conduction along motor nerve fibers away from the muscle and conduction along sensory fibers anti-Ma2-associated away from the spinal cord. Cf. orthodromic. encephalitis A variant of paraneoplastic (From the 2001 Report of the Nomenclature encephalitis, usually presenting with Committee of the American Association of isolated or combined limbic, diencephalic, or brainstem dysfunction and excessive Electromyography and Electrodiagnosis. daytime sleepiness due to diencephalic– Reproduced by kind permission of the 19 hypothalamic involvement. Vertical gaze AANEM.) paresis, external ophthalmoplegia, and atypical Parkinsonism or a severe anti-GD1b antibody syndrome hypokinetic syndrome are the described An ataxic form of Guillain-Barre´ syndrome features. In young male patients the primary with profound loss of proprioception and tumor is usually in the testis, in others the generalized areflexia, sometimes with mild commonest neoplasm is lung cancer.1420 external ophthalmoplegia, associated with high titers of monospecific anti-GD1b IgG anti-MAG-associated antibodies during the acute phase.4878 neuropathy See immune-mediated neuropathies. anti-GM1 antibodies Antibodies directed at ganglioside epitopes, capable of anti-MysB antibodies Antibodies inducing conduction block and associated detected rarely in patients with small-cell with the clinical conditions such as lung cancer who manifest a myasthenic multifocal neuropathy with conduction syndrome.1422 block, a motor variant of chronic inflammatory demyelinating antineuronal antibodies Autoganglioradiculopathy, amyotrophic lateral antibodies occasionally identified in the sclerosis (seldom), and other motor serum of patients with a paraneoplastic neuropathies. disorder of the nervous system. The antinucleoprotein antibody (Hu) is mainly anti-GQ1b antibody syndrome associated with small-cell carcinoma of the The common autoimmune mechanism in lung, while the antiPurkinje antibody is Miller Fisher syndrome, acute usually found in patients with breast or inflammatory demyelinating ovarian cancer.4438 Anti-Ro/SS-A and antipolyneuropathy, Bickerstaff brainstem La/SSB antibodies occur in some patients encephalitis, and acute ophthalmoparesis with Sjo¨gren syndrome. Anti-Yo antibodies 4751 without ataxia. are found in paraneoplastric cerebellar degeneration. Other neuronal antigens include myelin-associated glycoprotein; anti-Hu antibodies Antibodies directed at neuronal nuclei in the central and GM1, GQ1b, and other gangliosides; and sulfatide and chondroitin sulfate.5151 peripheral nervous systems, characteristically found in paraneoplastic encephalomyelitis affecting the cerebellum antiphospholipid antibodies A and limbic system and with sensory and family of immunoglobulin antibodies to autonomic neuropathies. Small-cell lung phospholipids, including the lupus
antisaccades anticoagulant and anticardiolipin antibodies (IgG, IgM, and IgA isotypes). They are most commonly found in women, in people aged less than 50 years, and in those with cerebral, optic, and other ischemic syndromes, headaches, thrombotic events, biologically false-positive reactions to syphilis, or thrombocytopenia. They also occur in 1–2% of the general population and in up to 50% of patients with systemic lupus erythematosus. These antibodies may be considered markers of stroke risk, but their precise relationship to the event is uncertain.3811
antiphospholipid antibody syndrome An autoimmune thrombophilic disorder defined by the presence in the blood of the lupus anticoagulant or anticardiolipin antibodies, usually in high titer, and clinically by recurrent fetal losses, recurrent arterial or venous thromboses, or thrombocytopenia.3811 Patients who are antiphospholipidantibody positive and who present with recurrent fetal loss, venous or arterial occlusion, or thrombocytopenia but without clinical evidence of systemic lupus erythematosus are said to have the primary syndrome. The cerebral syndromes may involve the small or the larger arteries, presenting a stroke, transient ischemic attacks, or multi-infarct dementia.835 Occasional neurological presentations include transverse myelitis, chorea, and a syndrome resembling acute inflammatory demyelinating polyneuropathy. Classification criteria have been suggested6821 and require one or more episodes of vascular thrombosis, pregnancy morbidity (deaths of a neonate, or three or more spontaneous abortions before 10 weeks). Laboratory criteria include the detection of anticardiolipin antibodies or lupus anticoagulant according to listed guidelines. See also Sneddon syndrome.2887
anti-Ri antibodies Antibodies detected rarely in patients with breast cancer who manifest opsoclonuis, nystagmus, dysarthria, and ataxia.1421, 4437 antisaccades Deviations of the eyes from a central fixation point not toward a new visual stimulus but away from it. Failure to make such movements in the test situation is evidence of frontal lobe dysfunction.3460
anti-Ta antibodies
anti-Ta antibodies Antibodies detected rarely in some patients with testicular cancer who manifest a paraneoplastic syndrome of limbic and brainstem encephalitis.1422
antithrombin III deficiency
62
commonly unaware of the paralysis or, if aware, remains indifferent. The names of Redlich and Bonvicini are also sometimes attached to this condition, but their reports were up to 20 years later than those of Anton and Babinski.
physiological measurements, age, and previous health status. Increasing scores are closely correlated with the risk of subsequent hospital death.3495
apallic syndrome The original term of Kretschmer3562 for the persistent vegetative state.
Antonini type A areas Regions within Schwannomas characterized by sheaths of spindle cells with long nuclei and apathetic thyrotoxicosis A variant fine intercellular cytoplasmic processes.6 form of acute hyperthyroidism in the elderly, characterized by lethargy, depression, Antonini type B areas Regions anti-Tr antibodies Antibodies abdominal pain, nausea, and vomiting. within Schwannomas characterized by detected rarely in patients with Hodgkin populations of cells with small round nuclei lymphoma who manifest a paraneoplastic and fine cytoplasmic processes intermixed apathy (Gr, without þ feeling) 1422 syndrome of cerebellar degeneration. with mast cells.6 A pathological behavioral state characterized by a reduction in anti-VGCC antibodies Antibodies anxietas tibiarum See restless legs spontaneous action and speech, with detected in some patients with small-cell syndrome. delayed, short, slow, or absent responses to lung cancer who manifest a paraneoplastic stimuli and a flat affect.1027, 6025a 1422 myasthenic (Lambert–Eaton) syndrome. Anyane Yeboa syndrome Apathy, abulia from frontal lobe disorders, (clefting-corneal opacity-retardation) psychomotor retardation in depression, and A congenital dysmorphic syndrome bradykinesia with ‘‘bradyphrenia’’ from anti-Yo antibodies Antibodies characterized by short stature, cloudy extrapyramidal disorders can be difficult to detected rarely in patients with breast or tell apart clinically.3816 Apathy does not ovarian cancer who manifest a paraneoplastic corneas, cleft upper lip and palate, urinary system anomalies, hydrocephalus, and correlate well with depression but does subacute cerebellar syndrome with mental and developmental delay.381 correlate with lowered cognitive function. nystagmus and dysarthria.4437, 1421 See also athymhormia, Lille Apathy Rating aortic arch arteritis See aortic arch Scale.5940 Anton, Gabriel (1858–1933) Austrian disease. neurologist who worked with Pick and Meynert before holding appointments ape hand (simian hand) Generalized aortic arch disease (Takayasu disease, atrophy and weakness of the intrinsic successively in Innsbruck, Graz, and Halle pulseless disease, aortic arch arteritis) An (where he succeeded Wernicke as professor in muscles of the hand, leading to a decline of obliterative panarteritis affecting the major 1905). In 1899, he described a loss of the position of the thumb into the plane of branches of the arch of the aorta, usually in awareness of focal cerebral somatosensory the palm, as in severe motor neuropathies young women, leading to cerebral and defects in patients suffering from visual with predominant effects on the median systemic ischemic symptoms and loss of agnosia or word deafness (anosognosia in nerve.645 pulses at the appropriate sites. Evidence of Babinski’s terminology). the formation of a collateral circulation, cardiac enlargement, systemic hypertension Apelt-Gerkin-Lenz syndrome Anton syndrome Anosognosia for See cleft lip-palate and tetraphocomelia. in the legs, and an elevated erythrocyte blindness, with denial of that blindness. sedimentation rate are also characteristic.6191 Such usage actually extends the definition of The condition was described by Broadbent apepsia hysterica See anorexia the syndrome described by Anton in 1899. in 1875 (as ‘‘subclavian stenosis’’) and by nervosa. Although overtly unable to see, often Takayasu in 1908. Sixteen synonyms are because of bilateral occipital lobe ischemic listed by Jablonski.3113, 3114 aperiodic 1. EEG waves or complexes damage, the patients deny that this is so and In a variant of the syndrome (aortic arch occurring in a sequence but at an irregular may resort to confabulation about things syndrome), similar features occur, mainly in rate. 2. EEG waves or complexes occurring ‘‘seen.’’211, 5228 Allocheiria is another young males in the Far East, in the absence of intermittently at irregular intervals. inconstant accompaniment. such arteritic pathology and without (Adapted from the 1974 Report of the evidence of fibromuscular hyperplasia or Committee on Terminology, IFCN1117 Anton–Babinski syndrome A rare atheroma. There is, however, intense and reproduced by kind permission of collagen proliferation at the origins of the neuropsychiatric syndrome featuring Elsevier Science.) great vessels leaving the aorta.1415 bilateral cortical blindness, visual anosognosia, and denial of the blindness and usually of an accompanying left APACHE score A severity-of-disease aperiodic alternating nystagmus See periodic alternating hemiparesis, as it is classically a result of a classification system deriving a point score right parietal lesion. The patient is based upon the initial values of 12 routine nystagmus. A dominantly inherited disorder of hemaglobin predisposing patients to stroke and due to a mutation in the antithrombin III gene at 1q23–25.
aphasia quotient
63
Apert, Eugene (1868–1940) French
scale has predictive value in terms of future pediatrician practicing in Paris, with a major motor and mental development. interest in developmental abnormalities. aphagia algera The loss of the ability to eat as a result of pain produced by eating, leading Apert syndrome (Type I to emaciation. In the absence of any detectable acrocephalosyndactyly; Apert-Park-Powers physical disease likely to be responsible, the syndrome; syndrome of Lobstein, van der Hoeve, Spurway, Henzschell, von Ammon, condition is considered to be functional or psychogenic.5984 See also akinesia algera. Looser, or Eddowes) A rare, sporadic (rarely autosomal dominant) craniofacial malformation stemming from abnormal bony aphakia (Gr, negative þ a lentil) The fusion (craniostenosis) affecting the skull condition of absence of the lens of the eye. (acrocephaly, turricephaly, brachycephaly), facial bones, hands, and feet (syndactyly). In aphasia (Gr, lack of þ speech) (dysphasia) some cases, the inability of the skull to expand A disturbance of word choice and/or leads to increased intracranial pressure as the grammar or of comprehension in brain grows, leading to ophthalmoplegia, optic communicating through language due to atrophy with visual failure, and mental brain disease; a disturbance in communication retardation. Shallow orbits are responsible for using language, not primarily due to motor or the slight exophthalmos. Agenesis of the corpus sensory deficits. Or, in the terms of Sir Henry callosum or of limbic structures, blue sclerae, Head, a disorder of symbolic formulation and deafness, bilateral fourth cranial nerve palsy, expression. and bony fragility are also reported.216 Linkage The first modern report of motor aphasia to chromosome 10q has been achieved. was by Broca, who demonstrated a case (of It was first described by Oribasius (325– ‘‘aphemie’’) in 1861 associated with a lesion 403 AD) and may have been recognized by of the left second and third frontal Homer, whose hero Thersites was described convolutions. Broca later correctly narrowed as if being so afflicted. It was reviewed and the site of the lesion to the posterior part of fully described in 1906 by Apert after a the left inferior frontal convolution, preceding description by Troquart in 1886. although Pierre Marie sectioned that The skull shape of Louis-Philippe of patient’s brain in 1906 and found that the France (‘‘teˆte en poire’’) may have been due to lesion was much more extensive.4072 such brachycephaly. The conditions of The condition had been described by acrocephaly and acrocephalosyndactyly have Hippocrates and by Schmidt in 1679 and been reviewed by Ferriman2032 and by was recognized by Carl von Linne (Linnaeus) Baraitser.379 See also Crouzon syndrome, in 1745. In 1683, Peter Rommeliu (1643– acrocephalosyndactyly. 1708) described what he called a ‘‘rare form of aphonia.’’ His lucid description, the Apert-Park-Powers syndrome embodiment of the modern aphasia See Apert syndrome. examination, identifies the syndrome as Broca aphasia. Alexia, paraphasia, unawareness of defects, amnesic aphasia, Apgar scores A practical, semiquantitative method of evaluation of the jargon aphasia, and agraphia had also been newborn infant, the observations being made mentioned variously by others before the 1 min after birth and sometimes repeated at nineteenth century.4339 In 1825, Bouillard 10 min. noted that the faculty for forming words In the scale, up to 2 points may be given could be lost even though the muscles of each for respiratory effort, reflex irritability, articulation were intact; in 1836, Marc Dax muscle tone, heart rate, and color.217 The stated that the site of speech memories was Apgar scores Score
Heart Rate
Respiratory Effort
Reflex Irritability
Muscle Tone
Color
2 1
100–140 100
Normal Depressed
Good Fair
Pink Fair
0
>60
Normal cry Irregular and shallow Apnea
Absent
Flaccid
Cyanotic
the left hemisphere; and in 1864, Trousseau suggested the use of the word aphasia rather than aphemie. A survey of the earliest accounts of aphasia from those of Hippocrates on was provided by Benton and Joynt, who noted that most of the forms of aphasia had been described piecemeal before Broca’s contribution.534 The early history has also been reviewed.5298 The sensory type of aphasia was first described as such by Wernicke in 1874, although others had written of the deficits before him. The most important summations of knowledge have been those of Henry Head, whose two-volume work Aphasia and Kindred Disorders of Speech was published in 1926, and more recently that of Critchley.2911 See also Broca aphasia, Wernicke aphasia, conduction aphasia, transcortical aphasia, global aphasia, nonoptic aphasia, amnestic aphasia, alexia.
Aphasia, Apraxia, Agnosia A subspecialty neurological journal. Address: Biolinguistics, P.O. Box 11356, Chicago, IL 60611.
aphasia–agnosia–apraxia syndrome (Pick syndrome, Bianchi syndrome) The combination of dementia, apperceptive blindness, and loss of reflex gaze.5228 See posterior cortical dementia.
aphasia batteries Standardized schemes for the diagnosis and assessment of aphasic disorders, for use informally at the bedside or in the neuropsychology laboratory. Batteries in common clinical use include the Western Aphasia battery,3401 the Aphasia Language Performance Scales, the Boston Diagnostic Aphasia Examination,2474 the Eisenson Examination for Aphasia,1826 the Minnesota Test for the Differential Diagnosis of Aphasia, and the Porch Index of Communicative Ability.5080 Screening tests include the Aphasia Screening Test, the Frenchay Aphasia Screening Test, the Sheffield screening test for Acquired Language Disorders, and the Token Test. The use of these (and other) tools is reviewed by Lezak.3825
Aphasia Language Performance Scale A formalized, portable interview technique for assessing a patient’s skills in listening, talking, reading, and writing.
aphasia quotient The relationship of fluency, information, comprehension,
Aphasia Screening Test
64
nonfluent aphasia characterized by a disturbance of oral verbal output, in which spoken language is poorly articulated, slow, and effortful, and repetition is impaired. Comprehension, word choice, grammar, Aphasia Screening Test A popular syntax, and writing are not affected. See instrument for the assessment, classification, logopenia. The syndrome commonly evolves from an and grading of language dysfunction and initial state of right hemiparesis and mutism. some nonlanguage communications The underlying lesion interrupts the path skills.2711 The test is included within the from Broca’s area to the motor area.521 Halstead-Reitan Test Battery. The word was originally selected by Broca The following truncated version is to indicate loss of articulate speech due to a suggested as a tool for distinguishing cerebral lesion, the motor and sensory between right and left hemisphere functions remaining unaffected, but it was damage.2843 rejected by Trousseau in 1864 because a 1. Copy a square, a Greek cross, and a literal translation from modern Greek is triangle without lifting the pencil from infamy, which seems inappropriate. the paper. Bastian thought that, in aphasia, the area 2. Name each copied figure. for kinesthetic images for words was 3. Spell each name. 4. Repeat ‘‘He shouted the warning’’ and destroyed and thinking was thus disturbed; then explain and write it down. in aphemia, he considered the lesion to be of Patients with left hemisphere lesions may the motor paths linking this area with the be able to copy the designs but not to write, muscles of articulation so that intellectual but those with right hemisphere lesions will functions remained. The lesion is now considered to be restricted within Broca’s be able to write but may not manage to area or in the subjacent cortex.4431 See also reproduce the designs.3825 The test aphasia, foreign accent syndrome, diplegia differentiates between patients with right and with dissociation, oralbuccal apraxia. with left hemisphere lesions, but it should 2. Selective loss of volitional (as opposed to not be relied upon to do more than that. emotional) movements, as in the case of the facial muscles in the anterior opercular aphasic acalculia See acalculia. syndrome.5598 repetition, and naming scores on the Western Aphasia Battery to the hypothetical normal score of 100, as a measure of the severity of language impairment.3407
aphasic agraphia See agraphia.
apheresis (Gr, to take away) (plasmapheresis) The term used for the
aphasic perseveration therapy A separation of the constituents of blood by
method of reducing aphasic errors by encouraging speech free from that perseveration which is considered to be an integral component of aphasic symptoms.2848
tongue and of the muscles attached to the hyoid bone2531 and representing dysarthria due to orofacial dystonia with spasm of the hypoglossus. The condition has certain similarities to writer’s cramp.
aplestia (acoria) Inability to attain satiety after eating. apnea (Gr, negative þ to breathe) Cessation of the ventilatory airflow for at least 10 s. apnea index The number of periods of apnea occurring in the course of 1 h of sleep, recorded by polysomnography. The normal number is 5 or less. apnea test A necessary test in brain death protocols. The comatose patient is ventilated with pure oxygen (or oxygen with CO2) for 10 min. After which, ventilation is terminated but a passive flow of oxygen is maintained for 10 min. Spontaneous ventilatory efforts stimulated by a rise in PaCO2 over 60 mmHg indicate retention of some brainstem function.
apneic spells Cessation of airflow at the nose and mouth lasting longer than 10 s. See sleep apnea.
apneic threshold The partial pressure of arterial CO2 below which respiratory motor output is so inhibited that the normal breathing rhythm is significantly disrupted; a pathophysiological mechanism involved in sleep apnea.1574
centrifugation, after which the protein fractions containing the antibodies responsible for the pathology can be removed and the remainder of the blood, with added apneusis See apneustic breathing. albumin, replaced. apneustic breathing (Gr, lack of þ to aphasic seizures Those focal seizures aphonia (Gr, negative þ the voice) 1. The breathe) A respiratory pattern in which the that impair speech production or inability to produce vocal sounds or phonate. usual pause taken at the end of expiration is comprehension when the dominant 2. Loss of the power of intonation, although replaced by one at the end of inspiration. hemisphere is involved. Pauses at the end of inspiration lasting 2 or articulation is preserved (obsolete). 3 s may alternate with pauses at the end of aphasiology A study of the phenomena aphonia clericorum Loss of speech expiration and reflect damage to the of central disorders of language.1336 respiratory control mechanisms in the middue to laryngitis, from excessive use of the or caudal pons. Apneustic breathing is voice. Aphasiology A specialist professional therefore a late sign of rostrocaudal journal. Web site: http://www.tandf.co.uk/ aphrasia (Gr, negative þ to speak) deterioration. In comatose patients, this pattern of respiration has serious significance journals/pp/02687038.html. Broca’s term for aphasia. because the probable cause is a lesion low in the pons. aphemia 1. (pure word dumbness; aphthongia (Gr, negative þ a clear cortical dumbness; cortical anarthria; simple sound) A peculiar affection described by aphasia; subcortical motor aphasia; ataxic Fleury, allied to stuttering, in which an apneustic center A site in the caudal aphasia; severe apraxia of speech) A attempt to speak brings on spasm of the pons adjacent to the trigeminal motor
apraxia
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nucleus, damage to which may lead to apneustic breathing.
apoceruloplasmin deficiency A recessively inherited syndrome characterized by adult-onset blepharospasm with facial dystonia, high-density basal ganglion lesions on CT scans, low serum copper and ceruloplasmin levels (but no Kayser–Fleischer rings), low serum apoceruloplasmin and intestinal copper absorption, but increased liver uptake of copper.4413
apo-E A plasma glycoprotein involved in lipid metabolism, with three variants (apoE2, E3, and E4). The E4 allele is associated with decreased longevity, raised plasma cholesterol, and Alzheimer disease with -amyloid and tangle pathology.
used. Johann Wepfer (1620–1695) demonstrated in 1658 that hemorrhage into the brain was the cause5619 and Marshall Hall agreed. Abercrombie differentiated three forms, corresponding to subarachnoid hemorrhage, left middle cerebral artery occlusion, and intracerebral bleeding. The term pontine apoplexy was used from 1845 for primary intrapontine hemorrhage and cerebellar apoplexy, similarly. The word is also used today for acute events affecting the labyrinth or the pituitary. The former is typically due to occlusion of the artery of the internal auditory meatus, the latter is a lifethreatening condition in which pituitary infarction leads to the acute onset of ophthalmoplegia with bilateral amaurosis, drowsiness, or coma; subarachnoid hemorrhage, CSF pleocytosis, and increased protein are also usually associated.
apogeotropic nystagmus See vestibular nystagmus.
apoptosis A gene-directed process of
approach–avoidance equilibrium A state of immobility in which a stimulus to act is balanced by a countervailing disincentive.
apractagnosia (minor hemisphere syndrome) Unawareness of the significance of painful sensations, disturbances of the body schema, denial of contralateral hemiparesis, lack of spontaneous movement of the contralateral side, dressing apraxia, asymbolia for pain, and loss of visuospatial functions and orientation due to lesions of the minor (effectively, the right) hemisphere.2826 The term is not specific, since it encompasses too many separate symptoms, and is thus seldom employed now. See also anosognosia, constructional apraxia.
apractagnosia for spatial orientation See visuospatial agnosia.
programmed cell death characterized by
apomorphine test The assessment of raised levels of cytosolic calcium in the dying aprataxin (APTX) A nuclear protein motor functions such as tapping and walking before and repetitively after a subcutaneous injection of apomorphine, a dopamine receptor. Doses are increased from 1 up to 10 mg until either a positive response occurs or intolerance develops. The test is considered to predict responsiveness to levadopa administration in Parkinsonian syndromes and may differentiate idiopathic Lewy body Parkinson disease from parkinsonism-plus syndromes such as multisystem atrophy and cerebellar atrophy.1407
cells, triggering digesting endonuclease activity without inflammatory changes. The process is normal in the embryo and in healthy adult tissues, and in the latter case, it leads to the disposal of neutrophils and the elimination of self-reactive T-cell clones.125, 5266 Prevention of apoptosis is a therapeutic option in ischemic and traumatic brain disease.11
apparent/real nystagmus see stepping-around nystagmus.
aponeurotic ptosis Drooping of the apperception Sensation accompanied upper lid in association with lengthening or by comprehension of what is perceived. disease of the aponeurosis. The muscle function is normal but the upper lid is seen to be thinned above the tarsal plate.1524 apperceptive agnosia An inability to recognize objects in the absence of a apoplexy (Gr, a violent striking down) A primary visual sensory deficit seen in sudden, sometimes catastrophic event such patients with lesions of the right hemisphere. Lissauer considered that visual as a stroke, or hemorrhage into an organ, usually the brain. In Hippocratic writings, perception began with a stage of conscious the word was also used for paralysis of part of awareness of a sensory impression the body occurring as a result of a stroke.1191 (apperception) followed by a stage in which The term was also used by Areteus and Galen associating semantic ideas added meaning.3868 and can be found in Chaucer’s work; the meaning was a paralysis of all the body with loss of sensation, motion, and understanding appetite An emotion requiring the (‘‘a total deprivation of sense and motion, satisfaction of a perceived need. excepting that of respiration, which is performed with difficulty, and snoring.’’) while for partial paralyses the term palsy was applause sign See three clap test.
with a potential role in DNA repair; the causative protein for EAOH.
apraxia 1. An inability to use body parts successfully. 2. An inability to carry out learned skilled, purposeful movements to command or in imitation, despite intact motor and sensory systems, good comprehension, normal volition and cognition, and full cooperation. The subject thus cannot produce the correct movement in response to a verbal command, nor imitate correctly a movement performed by the examiner, nor perform a movement correctly in response to a scene or object, nor handle an object correctly. 3. The loss of those mental faculties required to guide or execute purposeful movements, not explained by elementary motor or sensory deficits, impairment of perception or comprehension, or severe mental deterioration. The first definition (of Nathan) is appropriate when apraxias occur as a result of a lesion of the motor system, as in the case of apraxic dysarthria in the anterior opercular syndrome. Geschwind suggested2338 that apraxias result from disconnections of the posterior speech area from the association areas lying anterior to the primary motor cortex, and from disconnections of the visual association areas from these ‘‘motor association areas.’’ Sparing of whole-body movements is not uncommon in such cases,
apraxia for dressing perhaps because of preservation of the Bundle of Turck. The definition of apraxia specifies that the disturbance of performed skilled movements cannot be explained by the motor impairments experienced by patients with movement disorders. Bradykinesia and dystonia compromise the ability to establish the presence of loss of dexterity and deftness that constitutes limb-kinetic apraxia.6943 Standard tests for apraxia include the imitation of gestures, with or without meaning; pantomime of the use of imagined objects; tests of orobuccal movements; and a sequencing task such as the fist-palm-side test.3449 The recognition of apraxia and its first classification were the work of Hugo Carl Liepmann (1863–1925), a German neurologist, in 1900; he described three varieties3845 but further subgroups are defined today: 1. Ideomotor apraxia (motor apraxia) The inability to perform a motor act on command which can be performed spontaneously, so that the implementation of the gesture in a precise motor program is disrupted. In righthanded subjects, it is associated with lesions of the left hemisphere and thus is a common finding in patients with aphasia. Further subcategories include sympathetic dyspraxia; the failure of a patient with Broca’s aphasia to perform actions to command with the left hand; parietal apraxia resulting from damage to the arcuate fasciculus; callosal apraxia, an inability of the patient to perform an action with one hand while he can do so with the other, as in cases of anterior lesions of the corpus callosum; and anterior or frontal apraxia, in which the subject fails in the performance of tasks requiring bimanual interaction, because of a lesion of the left supplementary motor area.842 2. Ideational apraxia (conceptual apraxia) The inability to perform the coordinated sequence of actions that constitute a goaldirected activity despite the patient’s ability to perform the individual components of the actions in isolation; or the inability to select and use objects as a result of disruption of the normal integration of systems subserving the functional knowledge of actions and those involved in object knowledge.3764 3. Limb-kinetic apraxia Limb apraxia has been divided between forms because of a failure of a conceptual system (ideational apraxia, above) and impairment of the production of the movement—ideomotor or limb-kinetic apraxia—which is an entity of doubtful validity, the clumsiness
66 that forms the basis for the condition probably being due to paresis. Specific forms of apraxia (slightly modified here) have been defined by Koski et al. (2002)3540 Buccofacial apraxia Impairment in performing mouth or face actions on verbal command or imitation (see also orofacial apraxia). Conceptual apraxia A form in which the concept of the action is lost; characterized by an impaired ability to solve tool/mechanical problems and also to understand meaningful gestures. The distinguishing feature of the deficit is the loss of tool–object associations, actions associated with tools, and the mechanical advantage of using tools. This deficit is more representative of a loss of knowledge of proper performance than loss of motor function. Constructional apraxia Inability to assemble component parts into a coherent whole. Ideational apraxia Impairment in the sequential use of multiple objects. Traditionally, the term has also been used to refer to impairment in conceptualizing an action. The term conceptual apraxia (see above) was coined to distinguish between these two dissociable impairments which are easily confused. Ideational apraxia is characterized as a failure to sequence task elements correctly—conceptual problems are not the main issue. The distinguishing factor is that patients can convey knowledge of how to perform a sequence task (e.g., making a ham sandwich), but they fail to order the elements of the task properly and so omit steps or do them out of order. Ideomotor apraxia A disorder commonly seen in patients with stroke involving the left hemisphere. It is characterized by deficits in properly performing tooluse pantomimes (e.g., pretending to use a hammer) and communicative gestures (e.g., waving goodbye). These deficits are typically identified with movements made to verbal command or imitation. It is also present in conditions such as corticobasal degeneration (CBD), Parkinson disease, Alzheimer disease, progressive supranuclear palsy, and Huntington disease.6742 Limb apraxia The term used to refer to ideomotor apraxia of the limbs. It frequently includes impaired performance of actions that also depend on the hands and fingers. Limb-kinetic apraxia Slowness and stiffness of movements with a loss of fine and
precise movements. Limb-kinetic apraxia involves deficits mainly in fine and precise finger movements, such as those used in picking up a small coin or paper clip. Grasping with the full hand may also be affected. It is a basic motor coordination deficit, not explainable by more elemental deficits implicating areas such as the cerebellum or corticospinal tract.6742 Optical apraxia Impairment in performing saccadic eye movements on command. Orofacial apraxia Impairment in performing mouth or face actions on verbal command or imitation (see also buccofacial apraxia). Speech apraxia A selective impairment in the ability to produce speech sounds. Tactile apraxia Impairment of hand movements for the use of, and interaction with, an object; a selective disturbance of active touch. Hand skills not related to object exploration and manipulation remain intact. The disturbance is not specific for tool use, but affects any use of the hand as a sense organ. Unimodal apraxia Any form of apraxia that is specific to actions demonstrated in a single modality, e.g., visual but not auditory. Verbal–motor dissociation apraxia (disassociation apraxia) A condition in which, patients fail to respond to verbal commands to make movements. This disorder may be more involved with speech processing than motor performance. Based upon Wheaton6742 and Koski L, et al. Deconstructing stroke: understanding disorders of intentional movement after stroke. Curr Opin Neurol Neurosurg 2002;15:71. The term apraxia has also been applied to other motor disturbances, such as gait apraxia and apraxia of eyelid opening but probably incorrectly. See Bruns gait apraxia, lid apraxia, apraxia of eyelid opening, dressing apraxia, Luria-Nebraska battery and also the following entries.
apraxia for dressing See dressing apraxia.
apraxia of eyelid closure (compulsive lid opening) The inability of awake patients to initiate or sustain lid closure voluntarily in the presence of intact reflex lid closure due to bilateral hemispheric damage.3353
apraxia of eyelid opening (blepharocolysis, eyelid apraxia, focal eyelid dystonia, eyelid freezing, involuntary
The Arachnoid Cyst Foundation
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levator inhibition) A supranuclear disorder manifested by an inability of the alert subject to open the closed lids at will, in the absence of ptosis from any cause, of failed language comprehension, and of blepharospasm. The responsible lesion may be in the right hemisphere, in both, or in the basal ganglia; and is due to inhibition of normal tonic activity in the levator muscle.3240, 3359 It may be an accompaniment of such basal ganglion syndromes as Parkinson or Wilson disease,1620, 228 sometimes with sustained contraction of the orbicularis oculi with or without failure of levator palpebrae inhibition.
apraxia of gait See apraxic gait, Bruns gait apraxia.
apraxia of gaze A supranuclear disorder characterized by a transient, atonic inability to move the eyes in the direction desired, or to scan a picture for features surrounding the central point, in the absence of evidence of a lower motor neuron lesion of the III, IV, or VI cranial nerves. The condition is a feature of progressive supranuclear palsy and of various pyramidal syndromes of hemispheric origin and may occur in the Balint syndrome.
apraxia of speech Impairment of purposive speech with word-finding errors and paraphasias, while emotional or automatic speech is unaffected; as occurs with inferior frontal lesions in the dominant hemisphere.1454 apraxic agraphia An agraphic syndrome characterized by a selective disturbance of writing in the absence of any abnormality in letter or name selection, so that in the pure variety, spelling and reading are intact and there are no other disturbances of language function.452 The causal lesion may be frontal, parietal, or thalamic. apraxic dysarthria Inability to make purposeful speech sounds in the absence of dysphasia, as occurs in the anterior opercular syndrome.4053
apraxic gait (apractic gait, magnetic gait, Bruns gait apraxia) Inability to initiate the process of forward motion by alternating steps, although the power and coordination of the legs are normal in the lying and sitting positions. The maintenance
of the feet on the floor, removed only with great effort, has led to the alternative name magnetic gait.
aprosencephaly See cerebellar syndromes (congenital ataxias). aproscencephaly with Riegertype eye anomalies A congenital
aqueduct of Sylvius (cerebral aqueduct) The narrow passage between the third and fourth ventricles described by Franciscus de la Boe (Sylvius) in about 1650.
aqueduct syndrome See syndrome of the mesencephalic gray matter, Sylvian aqueduct syndrome.
aqueductal forking A developmental syndrome characterized by anterior chamber error in which representation of the aqueduct abnormalities, adrenal hypoplasia, and for part of its course is by two distinct aproscencephaly.381 channels in the sagittal plane, separated from each other by normal nervous tissue.1708 aprosexia An abnormal inability to pay aqueductal stenosis Narrowing of attention, often with a lack of interest in anything; similar to accedia, one of the seven the aqueduct of Sylvius in the absence of branching of the channel, gliosis, deadly sins. inflammation, or tumor; a cause of noncommunicating hydrocephalus.1708 aprosodia (aprosody) Lack of prosody in Acquired causes or congenital narrowing, speech, which thus loses the inflections that forking or gliosis of the aqueduct, or the add meaning and emotional content so that presence of a septum may be responsible. patients talk as though the language used were foreign to them. arachnoid (Gr, resembling a spider’s Prosody is an affective component of web) The word was used by Herophilus and language, as is emotional gesturing, and is organized within the right hemisphere in a later by Galen for any thin membrane. In manner similar to left hemispheric language neurology, it refers to the gossamer thin middle (but watertight) layer of the three functions so that motor, sensory, global, meninges enclosing, with the pia mater, the transcortical, and conduction forms of CSF. Its anatomy was described in 1800 by aprosodia may be differentiated.5418 5886 Bichat. In motor aprosodia the lesion affects the right frontal and anterior parietal opercula arachnoid cysts (leptomeningeal cysts) and produces speech that is flat, devoid of A developmental abnormality consisting of emotional tone and unaccompanied by benign, extra-parenchymal, nongenetic, gestures. Repetition of affective prosody is slowly growing cysts composed of a impaired but its comprehension and the thickened and fibrotic arachnoid membrane, interpretation of emotional gesturing usually situated over the lateral aspects of the remain. hemispheres or within the spinal canal In sensory aprosodia emotional prosody in speech and active gesturing are normal but containing CSF. They are considered to represent splitting or duplication of the their visual and auditory comprehension is impaired, as is their repetition. The lesion is arachnoid membrane. They usually arise within and expand the of the right posterior temporal and parietal margins of CSF cisterns such as those of the opercula. Sylvian fissures and suprasellar and In global aprosodia, due to a large right cerebellopontine regions. They have been perisylvian lesion, affect can neither be blamed for cognitive impairment, seizures, displayed nor comprehended. A left developmental delay, headache, hemiparesis is also likely to be present. hydrocephalus, focal signs and raised Transcortical aprosodias resemble the motor, sensory, and global forms, except that intracranial pressure, but are most often asymptomatic. See also porencephalic repetition is preserved. cyst.6736 Impairment of both the production and comprehension of language components The Arachnoid Cyst such as stress, pauses, cadences, accent, melody, and intonation that allow the Foundation An organization offering translation of internal states is termed guides, support, therapies, diet, and personal affective aprosodia.1027 stories about arachnoid cyst.
arachnoid diverticula
arachnoid diverticula (spinal arachnoid cyst; leptomeningeal cyst; intradural meningeal cyst; circumscribed serous spinal meningitis; localized adhesive spinal arachnoiditis; meningeal hydrops) Small diverticula in free communication with the subarachnoid space, arising from the septum posticum of Schwalbe (a sagittal membrane dividing the posterior spinal subarachnoid space) and occasionally causing pain, percussion tenderness, and myelopathic signs in erect adult subjects.3427 arachnoid granulations Normally, small outpouchings of arachnoid projecting into the dural venous sinuses to allow the transfer of CSF and some of its contents. Giant arachnoid granulations may cause a syndrome mimicking dural sinus thrombosis.
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arcade of Frohse A fibrous tunnel at the origin of the supinator muscle, under which runs the posterior interosseous nerve as it enters the forearm. Hence, this is a place where that nerve may be entrapped. arceau rhythm See mu rhythm. archenteric cyst See neurenteric cyst. Archimedes spiral Fine motor coordination may be assessed by getting the subject to draw a two-dimensional spiral figure from the center outwards. Tremor, athetosis, and other involuntary movement disorders and also pyramidal lesions may disturb the smooth execution of the drawing.
sclerosis.
architectonics The microscopical study of the appearances of cells and fibers in the cerebral cortex, leading to the definition of morphologically distinct areas. The major work was done by Korbimian Brodmann, von Economo, and the Vogts.
Aran, Francois-Amilcar (1817–
Archives de Neurologie A
1861) French physician who was born in Bordeaux but who was trained and worked in Paris. He was mainly interested in cardiology but described progressive muscular atrophy (amyotrophic lateral sclerosis) in 1850, a year after Duchenne (whose work he acknowledged) but 3 years before Cruveilhier (whose name is also sometimes attached to the syndrome).
neurological journal founded by Charcot in 1880 and edited by him until his death in 1893.
Aran disease See amyotrophic lateral
in the cortex of the supratemporal plane, arching posteriorly around the Sylvian fissure, and running in the superior longitudinal fasciculus across the insula to the lower frontal region. This and the local auditory cortex, insula, and supramarginal gyrus are the structures damaged in patients with conduction aphasia, in which the faculty of word repetition is especially affected.1435
arcuate scotoma A visual field defect described first by Bjerrum.663 It has a curved shape, skirting the central fixation spot, and is due to segmental (compressive) lesions of the optic nerve fibers running from the temporal retina both above and below the maculopapillar bundle. area postrema A region in the floor of the fourth ventricle where the blood-brain barrier is deficient.
areflexia without pupillary changes A benign and nonprogressive anomaly of unknown cause.6466 See also Holmes–Adie syndrome.
areflexic syncope (syndrome) See paralytic postural syncope.
Archives of Neurology (Arch Neurol)
An American neurological journal founded in 1959 with Harold Wolff as the first chief editor. It was sponsored by the American Neurological Association and published by the American Medical Association, taking over from the Archives of Neurology and Aran–Duchenne disease See Psychiatry. The American Neurological amyotrophic lateral sclerosis. Association later adopted the newly formed arbovirus encephalitis Direct viral Annals of Neurology as its official organ. infections of the brain due to RNA viruses of Web sites: http://archneur.amaassn.org/. Archives of Neurology Homepage. the togavirus, bunyaviruses, or reoviruses class. Most are zoonoses of birds or lower vertebrates and are transmitted through an Archives of Neurology and Psychiatry A professional journal founded arthropod vector, such as mosquitoes or ticks. The togavirus diseases include Eastern, in 1918 with Weisenburg as editor, to provide a vehicle for neurological papers that Western, Venezuelan, and Semlicki forest were not then finding adequate space in the encephalitis. St. Louis, Japanese, Murray Valley, West Nile, Ilheus, Russian, Spring Journal of Nervous and Mental Diseases. Summer, Central European encephalitis, and ARCO A childhood mitochondriopathy Louping ill and Powassan encephalitis are also produced by flaviviruses of the togavirus manifesting sensory neuropathy, dysarthria, group. Bunyavirus-caused encephalitides are and ophthalmoparesis. those of the California encephalitis group. arctic hysteria (Myriatchit) See Latah. Reoviruses include Colorado tick-borne encephalitis and Bhanja.6858 See also the CDC Web site: http://www.cdc.gov/ arcuate fasciculus (Lat, bowed þ a bundle) A cerebral fiber pathway originating DiseasesConditions/az/E.html.
Aretaeus of Cappadocia (81–138 AD) Arabian physician who described complex partial seizures (in a patient with a depressed skull fracture) and gave a full account of the different forms of aura. Noting the contralateral signs, he postulated decussation of the motor pathways in the brain. He also introduced the terms paraplegia (localized loss of touch and movement), paresis (loss of motor power only), and apoplexy (a generalized loss of movement, sensation, and understanding).
arginase deficiency (argininemia) A very rare, recessively inherited hyperammonemic syndrome presenting as a diffuse encephalopathy in infancy or childhood, with the added features of microcephaly, developmental delay, seizures, spasticity, ataxia, chorea, athetosis, opisthotonos, persistent vomiting, and intolerance of protein feeds.5936 Argininemia, arginemia, and aminoaciduria are other characteristic laboratory findings.2754 argininemia See arginase deficiency.
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argininosuccinase deficiency
Armendares syndrome An X-linked recessive or autosomal recessive syndrome characterized by microcephaly with cranial asymmetry, craniosynostosis, argyrophilic grain disease A sporadic neurodegenerative disease of old small face, microcephaly, high-arched palate, ptosis, pigmentary retinopathy, short age (a tauopathy) in which silver-staining stature, delayed skeletal maturation, short fibrils derived from dendrites are detected and simian creases of the throughout the cortex, rather than the usual fifth fingers, hand.245 See also craniosynostosis. plaques and tangles of Alzheimer disease, which this condition otherwise resembles Arnold, Friedrich (1803–1890) closely.3107 It accounts for about 5% of all cases of dementia. Clinical symptoms largely German anatomist who in 1838 made precise differentiation between the frontal, depend on the extension of the grains parietal, occipital, and temporosphenoidal together with the very common associated lobes. He also described the frontopontine tauopathies, such as Alzheimer disease, progressive supranuclear palsy, corticobasal tract, the arcuate nuclei, the otic ganglion, and the auricular branch of the vagus nerve degeneration, and the argininosuccinic aciduria A rare, 2030 and its canal. recessive hyperammonemic syndrome due to synucleinopathies. deficiency of arginosuccinate lysase. The Arnold, Julius (1835–1915) Heidelberg abnormal gene is located on chromosome 7 arhinencephaly A congenital physician (the son of Friedrich) who (7cen–q11.2). malformation in which the olfactory described superior laryngeal neuralgia3113 The condition presents clinically with pathway is absent. It is neither a and the Chiari malformation (in 1894, 3 lethargy, seizures, and coma in newborn morphological nor a single etiological years after Chiari). children who have sparse, brittle, and coarse entity, since numerous associated hair. Failure to thrive, seizures, malformations of the eyes, pyramidal hepatosplenomegaly, jaundice, and mental Arnold–Chiari malformation See pathways, cerebellum and dentato-olivary retardation are the usual presenting features complex, craniofacial dysmorphisms, and Chiari malformation. in infancy; and seizures, ataxia and cardiac, renal, and endocrine disorders are psychomotor retardation, often with Arnold syndrome See superior variously described in association.3508 See episodic vomiting and hypotonia, in laryngeal neuralgia. also olfactory dysgenesis, childhood. Aminoacidemia, moderate holoprosencephaly. citrullinemia, and hyperammonemia are Arnold’s nerve cough Coughing noted at all ages.1065 with stabbing pain felt in the suboccipital Arieti-Gray syndrome See region, thought to be due to irritation of the Sturge–Weber syndrome. Argyll Robertson, Douglas auricular branch of the vagus nerve.96 Moray Cooper Lamb (1837–1909) arm-diaphragm synkinesis Arm Scottish ophthalmologist who was trained in movements occurring in time with aromatic L-amino acid Edinburgh, St. Andrews, and Berlin. After respiratory movements, as a result of decarboxylase deficiency A rare his studies abroad, he returned to Edinburgh aberrant regeneration of phrenic nerve fibers recessively inherited inborn error of and eventually became president of the metabolism in which absence of this enzyme following brachial plexus or cervical root Royal College of Surgeons in that city. He prevents the synthesis of normal amounts of lesions.6166 gave credit to the German neurologist catecholamines and of serotonin. Remak for first showing him the pupillary Clinically, the disorder is characterized by abnormality which now bears his own name. arm drop A test for functional weakness, oculogyric crises and extreme axial hypotonia, only occasionally of value, in which the with hypokinesia and athetosis. Ptosis, supine patient’s arm is raised above the face Argyll Robertson pupils Pupils that and then let go; in functional disorders the sweating, lability of blood pressure and temperature, and nasal congestion witness the are small, irregular, unequal, and hardly arm is likely to fall away from the face but catecholamine deficiency. Abnormal sleep, reactive to light, though quite reactive to with complete ‘‘organic’’ weakness, it should feeding difficulties, and esophageal reflux are accommodation. drop right onto the face. other features. A response to monoamine Described in 1869, the lesion is of the oxidase A inhibitors and to dopamine pathways between the pretectal region of the arm-dropping test See Bekhterev agonists is reported.3067 midbrain and the Edinger–Westphal nucleus. Syphilis is the classic etiology, but signs, No. 9. other mesencephalic lesions and diabetes arousal 1. An abrupt change from a may also be responsible. The inequality and arm recoil The arms of the supine infant deeper to a lighter stage of nonrapid eye irregularity of the spastic pupils are not are first flexed maximally and then extended; movement sleep or from rapid eye movement explained by the known neurological in the normal mature infant the arms return sleep to the awake state.280 2. A period of at 5329 defects; to the fully flexed position. least 1.5 s in which there is increased EMG possibly syphilitic iritis (Allen-Dent syndrome; citrullinemia) A rare, usually recessively inherited hyperammonemic disorder presenting in childhood with toe-walking, vomiting, lethargy, and failure to thrive, usually followed in 6–12 months by progressive developmental delay, seizures, abnormal involuntary movements, ataxia, paraparesis, friability of the hair, attention-deficit/ hyperactivity disorder, hepatomegaly, and persistent vomiting. A few patients with nearly normal development have been reported.127 Plasma citrulline levels are markedly raised.
producing local scarring is the immediate cause.239
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artery having been injected with a radioArteriovenous Malformation opaque medium. The technique was Grading Scale A prognostic tool based introduced by Egas Moniz (1874–1955).1815 on the size of the AVM, the eloquence of the arousal disorders Parasomnias adjacent brain, and the pattern of venous occurring in the first third of nocturnal sleep drainage.4120 arteriosclerotic Parkinsonism during stages 3 or 4 of NREM sleep, when See frontal gait disorder, isolated gait the subject is unrousable. A spectrum of arteriovenous malformations ignition failure. behaviors is identified, increasing in severity with cavernous hemangiomas from face rubbing, chewing and mumbling A dominantly inherited syndrome of through sleeptalking, sitting up in bed, arteriosclerotic rigidity (akinetic cerebral blood vessel hamartoma in which sleepwalking, thrashing about in bed, night rigidity; hypertonia of opposition; paratonia) both of these abnormalities occur, without terrors, and panic attacks. See parasomnias, The expression employed by Macdonald skin or retinal lesions.3585 confusional arousals, sleepwalking, sleep Critchley for increased muscular resistance to terrors. passive stretch, made worse by instructions arteritis Inflammatory disease of the given to the patient to relax. It thus arterial walls. See giant-cell arteritis. array A regular arrangement of electrodes resembles paratonia. over the scalp or brain or within the brain artery of migraine The posterior substance. arteriovenous fistula Any cerebral artery,2096 so called because of the connection between an artery and a vein close association between migraine and arrhythmic activity A sequence of allowing arterial blood to flow into the visual disturbances. waves of inconstant period. Cf. rhythm. venous system directly without interposed capillaries. See spinal dural arteriovenous artery of Percheron A perforating arrhythmokinesis Disturbances in fistula. artery branching from the precommunal part rapid alternating ballistic movements in of the posterior cerebral artery and supplying patients with cerebellar dysfunction.6733 the upper paramedian midbrain and arteriovenous malformation thalamus. arrow sign A finding on CT scans due to (AVM) (tumor circoidius; racemose activity in association with a return of desynchronization of the EEG during sleep.
blood in the Sylvian fissure, typically as a result of seepage between the insula and the frontal and temporal opercula of the sylvian cistern near the MCA trifurcation.4055
Arroyo sign Sluggishness of the pupillary light reaction in hypoadrenalism.5333 arsenic neuropathy The neurological features of arsenic poisoning resemble those of lead neuropathy but with added cramps and muscle tenderness.
arterial gas embolism Air embolism occurring typically when a diver ascends (decompresses) without exhaling, as a result of which the expanding air in the respiratory passages expands and causes alveolar rupture, the air entering the systemic circulation. Pain, respiratory distress, and cerebral and brainstem signs are the usual sequelae.2571
arterial stationary wave An angiographic appearance resembling ringed constrictions, described in the distal part of the internal carotid artery in Tolosa–Hunt syndrome (superior orbital fissure syndrome).
arteriography The depiction of the lumen of the larger arteries by X-rays, the
aneurysm; racemose angioma; angiomatous malformation) An uncommon congenital vascular malformation (angioma) in which gliotic neural tissue is present between the vascular elements. It is due to an arrest in development that results in the formation of direct artery-to-vein communications of any size from cryptic to tumorous, without an intervening capillary bed. The condition is usually sporadic but may be familial. The lesion evolves during life with increased blood flow and attenuation of distended venous channels, leading to clinical manifestations usually after the second decade. Hemorrhage, ischemia resulting from steal of arterial blood, irritation of the underlying brain, and local brain atrophy may be responsible for the clinical manifestations which include intracerebral or subarachnoid bleeding, seizures, focal signs, headache, bruits, and even cardiac failure in patients with largevolume shunts through the malformation.4989, 6030, 3561 See also angioma, cerebral blood vessel hamartoma, aneurysm of the vein of Galen, capillary telangiectasia, cavernous angioma, venous malformations. A grading system for all forms of AVM has been suggested.5974 A variant is spinal avm, epidermal nevus, and rhabdomyosarcoma.5661
arthrogryposis (Gr, joint þ to become bent) Congenital ankylosis of more than one joint. A condition of fixation of joints due to contractures in local tissues, occurring either in isolation or in association with neural or muscular diseases in childhood (see arthrogryposis multiplex congenita).
Arthrogryposis Association A charitable organization. Address: 106 Herkheimer St., Northville, NY 11710.
arthrogryposis multiplex congenita (AMC) (multiple congenital articular rigidities; amyoplasia congenita; Guerin–Stern disease; myodystrophia fetalis deformans) A group of disorders of infants and children characterized by multiple fibrotic joint contractures appearing at or just after birth, leading to immobility of the limbs with fixation in certain postures due to contracture of the muscles.2610 The spine and temporomandibular joints, however, are never affected. Most cases are sporadic, and are neither neural nor myopathic in origin; presumably this form is not heritable and represents an intrauterine or developmental disorder of joints. However, AMC may be associated with either neuropathic or myopathic disease372, 1703 and may be inherited either
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as a dominant or as a recessive characteristic. The syndrome was first described by Otto in 1841. Congenital cerebral maldevelopments such as micropolygyria, heterotopias, dilated ventricles, absent corticospinal tracts, anterior cell degeneration, and facial nerve nuclear degeneration may accompany the joint disorder.2978 Absence of abdominal muscles, myelocele, club feet, dislocation of hips and knees, congenital heart disease, and hernias are also described in association. Major forms of AMC include: Distal arthrogryposis (DA1) is a genetically heterogeneous but usually dominantly inherited syndrome characterized by clenched fists at birth, overlapping fingers, ulnar deviation and camptodactyly, foot deformities, and variable contractures of major joints.3432 Freeman–Sheldon syndrome (DA2A) presents with facial anomalies (e.g., small mouth, deep set eyes, micrognathia) and distal joint contractures. A milder form is known as DA2B. The abnormality is on chromosome 11.
nystagmus induced in darkness by passive movement of the arm or, if the subject sits inside a rotating drum, by feeling its inner surface with the hands. Build-up and decay are slow and the fast phase beats away from the arm that is moved.
articulated labials Those consonants (B, P, M, W) which depend for their utterance upon intact lip function. See also modified labials, dentolabials.
articulation The distinct utterance of vocal speech sounds.
myoclonic epilepsy with generalized spasticity and intellectual disability, and X-linked lissencephaly with abnormal genitalia.
arylsulfatase A family of enzymes coded on chromosome 22 responsible for cleaving the sulfatase ester from the galactose portion of the sulfatide molecule. Sulfatase A is deficient in metachromatic leukodystrophy. The B and C forms are also missing in the condition of multiple sulfatase deficiency.
ascending neuritis An inflammatory
reaction in the peripheral nerves capable of progressing proximally and thereby leading difference due to an extracerebral source to dysfunction of the CNS as hypothesized recorded in EEG tracings. 2. Any by Charcot. In the absence of supportive modification of the EEG caused by evidence, the hypothesis generates intestinal extracerebral factors such as alterations of the rather than cerebral sympathy. media surrounding the brain, instrumental distortion or malfunction, and operational Aschner cardiac phenomenon errors. (Adapted from the 1974 Report of the See oculocardiac reflex. 1117 Committee on Terminology, IFCN with permission from Elsevier Science.) 3. Any Aschner sign See oculocardiac reflex. symptom or physical sign which is unrelated Variant forms include the following: to the pathology which induced the present 1. Arthrogryposis is dominantly inherited but consultation. 4. A voltage change generated asemasia (Gr, lack of þ to show by signs) Loss of the power of communication by neither atrophy nor weakness is by a biologic or nonbiologic source other language or by signs. apparent.1408 than the ones of interest. The stimulus 2. The anterior horn cells of the spinal cord artifact (or shock artifact) represents are affected, and there is liver disease with aseptic lymphocytic cutaneous spread of stimulating current to pigment overload and renal dysfunction. meningoencephalitis See the recording electrode and the delay in Death ensues within weeks or return to baseline which is dependent on the disseminated vasculomyelinopathy. months.4656 3. Multiple articular rigidities and nodular ability of filters to respond to high voltage. Stimulus artifacts may precede or overlap the aseptic meningitis (lymphocytic protuberances of the anterior vertebral columns are present with an almost total activity of interest. choriomeningitis) 1. A disease with acute absence of myelin and Schwann cells.4972 Movement artifact refers to a distortion in onset characterized by meningeal signs, 4. Dominantly inherited lower motor neuron the trace due to movement of the recording pleocytosis in the CSF (mainly mononuclear disorder with arthrogryposis is a electrodes. cells), and sterile CSF culture. 2. A benign nonprogressive, congenital disorder lymphocytic meningitis due to an RNA restricted to the lower part of the body, virus, usually transmitted by mice, in which artistic agnosia Inability to with atrophy of spinal motor neurons and the cellular response is monocytic comprehend the nuances of an artistic absence of muscle spindles.3569 2128 (lymphocytic) rather than granulocytic. production; an uncommon sign of right Expression of the gene is variable. Clinically, a typical meningitic illness 5. The myopathic type is characterized by the hemisphere disease. In a diluted but much more common form, this incapacity affects with headache, fever, photophobia, and occurrence of arthrogryposis with a primary myopathic disorder, such as many otherwise normal people, both in the nuchal rigidity follows a prodromal febrile, congenital muscular dystrophy. influenza-like illness after 4–7 days, and lasts visual and auditory spheres. 6. AMC associated with pulmonary for up to 4 weeks, with minor residua such as hypoplasia arthralgias and drowsiness being common ARX (Aristaless-related homebox gene) 7. Distal X-linked AMC also manifesting over the next few months. In the acute stage, A developmental gene located at Xp22 anterior horn cell disease the CSF shows monocytic pleocytosis but which is associated with infantile spasms 8. AMC accompanying a congenital 2978 glucose levels are normal and cultures are and such developmental problems as mental neuropathy negative. Enteroviruses account for most retardation, ambiguous genitalia, neonatal See also Kuskowim disease. poikilothermia, callosal agenesis, dystonias, viral causes. Herpes simplex, adenovirus, mumps, etc. may also be responsible.The dysarthria, autism, and gait disturbance. arthrokinetic-induced See Partington syndrome, West syndrome, term was first applied in 1920 by James Bourne Ayer (b. 1882), a Boston nystagmus (Stransky nystagmus; X-linked mental retardation, X-linked neurologist.3373 A chronic benign infantile spasms, X-linked somatosensory nystagmus) That form of
artifact (artefact) 1. Any potential
ash leaf spots lymphocytic form of meningitis also occurs.2986 Diagnostic criteria for headache attributed to lymphocytic meningitis have been defined: A. Diffuse headache fulfilling criterion D B. Examination of CSF shows lymphocytic pleocytosis, mildly elevated protein and normal glucose in the absence of infectious organisms C. Use of one of the following: ibuprofen, immunoglobulins, penicillin or trimethoprim, intrathecal injections, or insufflations D. Headache resolves within 3 months after withdrawal of the offending substance
72
asomatognosia 1. Lack of awareness of seizures, and sleep disturbance. Depression the deep sensations (joint position sense, deep pain, muscle sense) from part of the body, usually due to posterior column or peripheral nerve (thick-fiber) disease. 2. Inability to recognize a paretic limb as one’s own. See anosognosia.
asomnia Pathologically persistent wakefulness. See agrypnia. aspartate A dicarboxylic acid excitatory neurotransmitter.
aspartylglycosaminuria A rare, recessively inherited lysosomal storage disease producing diffuse encephalopathy and presenting as intellectual retardation from infancy, accompanied by skin photosensitivity; short neck and short stature; brachycephaly; facial dysmorphism; joint laxity; macroglossia; behavioral ash leaf spots Hypomelanotic macules disturbances; pyramidal, retinal, and corneal seen in the skin in over 80% of patients with abnormalities; glycoasparginuria; and tuberous sclerosis. aminoaciduria. The biopsy of almost any tissue shows the Ashworth scale A validated scale for presence of vacuoles in the cytoplasm. The assessing the severity of spasticity, initially responsible gene has been located at 4q24qter.5069, 6720 designed for children with cerebral palsy 274 when such an assessment is important. Asperger syndrome (able autism) A 0. No increase in muscle tone minor form of autism first described in 1944 1. Slight increase in tone, giving a catch by Hans Asperger, an Austrian pediatrician, when the affected part is moved in flexion in which there are few if any problems with or extension, followed by minimal language and learning but many in the realm resistance throughout the remainder of of social interaction. This pervasive the range of movement developmental disorder is characterized by 2. More marked increase in tone through social impairments, restricted interests, and most of the range of movement, but the repetitive behaviors, though not associated affected parts are easily moved with delay in language development. 3. Considerable increase in tone, making passive movement difficult Subjects lack empathy, appear self-centered, 4. Affected part rigid in flexion or and are only comfortable in predictable 720 extension. situations. They may not use appropriate loudness levels, may make socially See also Spasm score. unacceptable statements about the appearance of others (see verbal dysdecorum) or yawn widely as one talks to them, and may asimultagnosia (extinction, sensory miss the nonliteral meaning of language and/ competition) Difficulty in perceiving the or the suprasegmental intent of language whole of the visual field at one time, or in appreciating the occurrence of simultaneously communicated through prosodic rhythm presented tactile or auditory stimuli on each and melody as opposed to the words said, as well as the nonverbal message. Many also side of the body. Those affected with the demonstrate a kind of rigidity in thought visual form see their field piecemeal and identify objects in parts of it only, thus failing and action, which presents as stereotyped, to enumerate the number of objects (crosses, manneristic, or obsessional behavior. Other letters, etc.) written on a card, although those common features include pedantic styles of that they do perceive, they perceive normally. communication, gross motor clumsiness, The condition is a feature of Balint syndrome. poor motor skills, sensory oversensitivity,
From the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.
and anxiety are also common. The overwhelming prevalence of both autism and Asperger syndrome in males suggests X-linked influences, but specific markers have not been identified, although it has been mapped to chromosome 3p21. The American Psychiatric Association DSM IV-TR diagnostic guidelines172 are similar to those for autistic disorder. They can be found at http://www.behavenet.com/ capsules/disorders/dsm4TRclassification. htm/ See also fragile-X syndrome and the Web site http://www.ummed.edu/pub/o/ ozbayrak/asperger.html/.
Asperger Syndrome Coalition of the U.S. A charitable organization in this field. Address: P.O. Box 351268, Jacksonville, FL 32235-1268. Tel: 866-4277747. E-mail:
[email protected]. Web site: http://www.asc-us.org.
aspergillosis Infection with Aspergillus fumigatus, seldom affecting the nervous system, but occasionally causing cerebral abscess or basal meningitis. Hematogenous spread from pulmonary aspergillosis commonly causes an infectious cerebral vasculitis, especially involving the thalamoperforating and lenticulostriate arteries and leading to thalamic or basal nuclei lesions, or septic infarction of the brain. Non-neurologic features helpful in diagnosis are the presence of risk factors (major or prolonged neutropenia, hematologic malignancies, prolonged corticosteroid treatment, bone marrow or solid organ transplant, AIDS); persistent fever not responding to antibacterials; and respiratory signs.6223 Assessment of Quality of Movement for Unilateral Arm Function An arm assessment test for children with cerebral palsy.3229
associated movements 1. Tonic or postural reflex reactions (i.e., variations in muscle tone or attitude), typically appearing in hemiparetic limbs and characterized by long latency, constant form and slow development, and decline. Their adequate stimulus is the tonically maintained voluntary contraction of some other part of the skeletal musculature.6622 2. An involuntary association between the movements of paralyzed limbs and other
astasia–abasia
73
parts of the body, thus a paralyzed arm may be adducted strongly during a yawn.6300
associated nystagmus See induced nystagmus.
Association Canadienne de l’ Ataxie de Friedreich A Canadian charitable organization. Address: 5620 rue CA Jobin St., Montreal, PQ H1P 1H8, Canada. Tel: 514-321-8684.
association cortex 1. Those parts of the cerebral cortex not recognized as having specific motor or sensory functions, although lesions of these regions lead to deficits in attention, sensation, language, and other higher cerebral functions.1742 2. Homotypical six-layered isocortex, some of which is modality-specific (unimodal) and some heteromodal (polymodal, multimodal, supramodal, polysensory, or high-order association cortex) in its response to differing kinds of stimulation. The unimodal areas act as obligatory relays for the intracortical transfer of sensory information from the primary receptive areas to other parts of the cortex. The heteromodal areas allow intermodal association and have close relationships with limbic and paralimbic function. Lesions here give rise to complex, multimodality disorders such as Gerstmann syndrome, confusional states, or Balint syndrome.4332
Association for NeuroMetabolic Disorders A charitable
agnosia is a true defect of recognition caused by an impairment of the normal processing mechanisms of the associative cortex by organization in this field. Address: c/o which perceived stimuli are matched with Cheryl Volk, 5223 Brookfield Lane, previously encoded information to allow Sylvania, OH 43560. Tel: 419-885-1497. recognition. As a result, the perception is E-mail:
[email protected]. normal but it is stripped of its meaning; thus there is a loss of the ability to identify objects Association for Persons with seen,1105 so that while an object seen may be Severe Handicaps A charitable organization. Address: 7010 Roosevelt Way, drawn accurately, the subject nevertheless NE, Seattle, WA 98115. Tel: 206-361-8870. does not recognize what it is.
Association for Research in Nervous and Mental Disease
associative visual agnosia without alexia A rare syndrome in
A professional organization. Address: 1. Gustave Levy Pl., P.O. Box 1052, New York, NY 10029.
which the subject is unable to appreciate the meaning of visually presented, nonverbal but meaningful stimuli, while perception of such stimuli through other channels is retained. A right hemianopia is usually present. The condition represents the effect of both an interhemispheric visual–verbal disconnection and a specific categorization defect for visual, nonverbal meaningful stimuli.107
Association Franc¸aise contre les Myopathies A charitable organization. Address: 13 Place de Rungis, 75013 Paris, France. Tel: 1-4565-1300.
Association of British Neurologists A professional society that represents clinical and academic neurologists in the United Kingdom. Address: Ormond House, 27. Boswell St., London WC1N 3JZ, UK. Web site: http:// www.theabn.org/.
astasia–abasia The inability to
maintain an upright posture, despite normal function of the legs in bed; usually a manifestation of hysteria. The opposite condition (legs paralyzed in bed but able to Association of Professional sustain gait) is also recognized.684 The Sleep Disorders Clinics A grouping words mean ‘‘inability to stand and walk.’’ of the three major U.S. societies involved It may be better to use the term hysterical with clinical and research studies on sleep. dysbasia for the difficulty with gait and the Address: 604 Second St. SW, Rochester, term stasibasiphobia for the fear of standing Association for Alzheimer’s MN 55902. Tel: 507-287-6006. or walking. In hysterical dysbasia there is Disease and Related Disorders often marked swaying from side to side, A charitable organization. Address: 70 East Association of Rehabilitation with superfluous movements; the patient Lake St., Chicago, IL 60601. Tel: 312-853- Nurses A professional organization. may fall far to the side or to the front or 3060. Web site: http://www.alzhi.org/. Address: 2506 Gross Point Rd., Evanston, back when walking but is usually able to IL 60201. Tel: 708-966-3433. regain balance without falling to the floor. Association for Brain Tumor If a fall does occur, it is in a theatrical Research A national charitable Association of Sleep Disorders manner but usually without injury. It can organization providing free written Centers See American Academy of Sleep frequently be demonstrated in hysterical information about brain tumors and Medicine. Web site: http://www.aasmnet. dysbasia that, although unable to walk treatment options, including facts about org/. forwards, the patient may be able to walk medical specialists, facilities, and support backwards or to one side or even to run groups. The organization also funds medical Association of University without difficulty. research. Address: 208 South LaSalle St., Professors of Neurology A Charcot, in describing this as ‘‘a special Suite 1426, Chicago, IL 60604. Tel: 312professional organization. Web site: variety of motor feebleness of the legs from 782-4311. Web site: http://www.abta.org/. www.aupn.org. want of coordination in relation to position in rest and progression,’’ indicated that he Association for Children and associative agnosia One of the two regarded the condition as an ability to move Adults with Learning the legs in the recumbent but not in the forms of agnosia differentiated by Lissauer Disabilities A charitable organization. (1891), the other being apperceptive agnosia upright position. See also Blocq syndrome, frontal disequilibrium, and subcortical Address: 4156 Library Rd., Pittsburgh, PA (in which the perceptual mechanism is disequilibrium. thought to be disturbed). Associative 15234. Tel: 412-881-2253.
astasia trepidante
astasia trepidante (astasia trepidans) A peculiar fear of walking, occurring rarely in elderly people in whom no specific abnormalities can be found to explain their apprehension. Occasionally, they may be so fearful of walking that they will not take a step at all and ‘‘freeze’’; when encouraged to step out, they may clutch onto things or drop to their knees. In many cases, normal pressure hydrocephalus is considered to be the cause, and in some cases it is. The Petren gait is a dilute version of the same condition.
74
asthenia crurum dolorosa (paresthetica) See Ekbom syndrome. asthenia of upward gaze Progressive ptosis with descent of the globe after the maintenance of upward gaze for a minute or so; a sign of end-plate fatigue in myasthenia gravis.
asthenic bulbar paralysis See myasthenia gravis.
asthenic ophthalmoplegia Ocular myasthenia gravis.
astatesthesia Inability to recognize the position of a limb in space. asthenopia (Gr, lack of þ strength þ eye) 1. (accomodative asthenopia) Frontal astatic seizure (drop attack) A motor headache, fatigue, and failure of continued seizure causing loss of the erect posture that accommodation (leading to complaints of results from an atonic, myoclonic, or tonic blurred or indistinct vision) and of mechanism. concentration, occurring in some subjects after prolonged close work. 2. A similar astereognosis A failure of judgement phenomenon occurs during the later stages of recovery from cortical blindness. regarding the spatial characteristics of a tactile stimulus, due to a lesion of the contralateral parietal cortex. asthmatic amyotrophy See Hopkins syndrome. asterixis (negative myoclonus) Brief, astigmatism (Gr, lack of þ a point) irregular, and jerky movements resulting A defect of the refractive media of the eye in from the temporary loss of muscle stimulation during which muscle tone is lost which parallel rays of light arising from a single source are not brought to a common from an extended limb. This leads to point on the retina, usually due to differences momentary dropping of all or part of it (lapses in posture),6931 or to a tremor when in the curvature of the cornea at different places.2636 the interruptions in innervation last 3 days. Mistakes in month >10 days, or year >1 month. Unsure of month and/or year and/or season; unsure of locale. No idea of date. Identifies spouse but may not recall name. Knows own name. Cannot identify spouse. May be unsure of personal identity.
5. Functioning and Self-care 1. No difficulty, either subjectively or objectively. 2. Complains of forgetting location of objects. Subjective work difficulties. 3. Decreased job functioning evident to co-workers. Difficulty in traveling to new locations. 4. Decreased ability to perform complex tasks (e.g., planning dinner for guests, handling finances, marketing, etc.). 5. Needs help in choosing proper clothing 6. Needs help in feeding, toileting, bathing, and/or ambulating. 7. Requires constant assistance in all activities of daily life.
(BCRS) An instrument designed to assess the severity of cognitive decline and sometimes employed in the investigation of pharmacological agents used to treat dementia in the elderly. The test excludes measures of mood change but provides ratings in 5 other areas, although scoring is From Reisberg B, Ferris SH. Psychopharmacol Bull 1988;24:629. Permission sought from MedWorks somewhat subjective. See Chart B-7. In a Media LLC. With thanks to the (US) National Institute for Mental Health. modification (BCRS part 2), speech and
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Brissaud syndrome
resumes the occupation in which he was engaged.’’ He obtained and himself performed autopsies whenever possible, leading both to a Brief Psychiatric Rating Scale A superb pathological collection (still retained relatively short observer-rated scale assessing at Guy’s) and to contemporary recognition of 18 items including depressive symptoms the value of understanding the pathology of with the object of assessing changes after disease. Thus he was able to show that focal treatment.4837 The scale concentrates on epilepsy was as likely to originate from brain psychopathology with less emphasis on the disease as was the generalized variety, at a manifestations of dementia such as somatic time when Brown-Se´quard, for example, was and self-care factors. advocating amputations for the control of A similar scale for the assessment of geriatric focal seizures.6926 patients has also been constructed.4935 He was also a noted geologist; his collection, expanded by the purchase of the fossil section of that amassed by James Brief Repeatable Battery of Parkinson, passed eventually to the Institute Neuropsychological Tests A sensitive measure of cognitive impairment in of Geological Sciences. multiple sclerosis, using five validated Figure B–10 Edouard Brissaud. measures of spatial memory, verbal memory, Briquet, Paul (1796–1881) French physician whose two theses were on varicose short- and long-term recall, attention, and veins and artificial illumination, verbal fluency.749 acromegaly, Parkinsonism, syphilis, respectively, but who also published on involuntary movements, hypnosis, and tuberculosis, cholera, and hysteria. brief small abundant motormedical history. He also gave a good account of tuberous sclerosis, but after Bourneville. unit action potentials A pattern of Briquet syndrome 1. Aphonia and Horsley operated on his brain tumor in Paris, voluntary EMG activity which suggests, but dyspnea, considered by Briquet (1859) to be but this did not prolong his life. is by no means diagnostic of, primary due to hysterical paralysis of the diaphragm; myopathy.1884 See BSAPPs. this is almost certainly the hyperventilation Brissaud convolution The gyrus syndrome. 2. Hysteria, specifically parietalis transversus. brief symptom inventory A self- hysterical anesthesia of the skin with report questionnaire used for individual consequent imprecision of movements screening of depressive symptoms.1607 (‘‘ataxia’’) Briquet regarded this as a ‘‘neurosis Brissaud disease (chorea variabilis) See Tourette syndrome (which was in fact what of the brain’’ in which unpleasant he was describing).845 Bright, Richard (1789–1858) English environmental events acted upon the ‘‘affective part’’ of the brain in a susceptible physician and pathologist born in Bristol. and predisposed person. His book844 finally Brissaud infantilism A syndrome of After training in Edinburgh, at Guy’s Hospital, and in Europe, he practiced in disposed of the old concept that hysteria was the persistence of infantile characteristics London where he was appointed physician to in some way associated with wanderings of beyond the age of puberty, with Guy’s Hospital in 1824. He is best the uterus. 3. A chronic illness characterized retarded growth and delayed mental development. Round, chubby face, remembered for his descriptions of chronic by the occurrence of multiple symptoms renal disease and of various neurological affecting multiple organ systems, resulting underdeveloped genitalia, dwarfism, lack of body hair, and delayed epiphyseal conditions, collected in the two volumes of from conversion disorder. ossification are characteristics. The his Reports of Medical Cases (1827–1831), in His work and concepts of hysteria have condition probably represents infantile which inter alia he described the features of been reviewed.4028 myxedema.846 certain seizure types, recognizing the sensory 838 march, painful lateralized seizures, Brissaud, Edouard (1852–1909) Brissaud reflex Contraction of the secondary generalization of focal seizures, French neuropsychiatrist. As a student he ictal amaurosis, and olfactory auras. trained under Charcot, Millard, and Lase`gue tensor fascia lata in response to scratching His account of postictal paralysis preceded and after graduation became chef de clinique the sole of the foot; seen in pyramidal disease. that of R.B. Todd. He described absence at the Pitie´. He later deputized for Charcot attacks as follows: ‘‘Often it is the in his absences, filling the Chair at the Brissaud syndrome 1. See Brissaud momentary absence of mind, the eye fixed in Salpeˆtrie`re temporarily after Charcot’s death. infantilism. 2. Sinistrosis (‘‘shell-shock’’) but thought, yet gazing vacantly, no convulsion, He was elected professor of the history of the term was used by him to describe the no sound, the occupation of the hand ceases medicine in the Faculte´ de me´dicine in Paris features of traumatic or compensation while the mind for the moment is and later was professor of pathology. With neurosis; ‘‘It is a pathological attitude in an annihilated; the cloud passes off, the intellect Pierre Marie he founded the Revue Neurologique injured person who refuses to recognise that returns and often unconscious that its in 1893. Brissaud wrote extensively on such he is cured as he genuinely believes that he operation has been suspended, the patient subjects as neuroanatomy, hysteria, asthma, has not obtained just legal compensation for language capacity, psychomotor function, mood and behavior, praxis and calculation ability are also assessed.5255, 5252
Brissaud–Lereboullet syndrome
136
practitioners and professionals allied to the injury received. He is basically a claimant who over-estimated his right to be medicine working at the interface of the clinical and cognitive neurosciences and indemnified.’’847 psychiatry.
Brissaud–Lereboullet syndrome (hemicraniosis) Hemifacial
British Neuroscience and hemicranial hyperostosis associated with Association (formerly The Brain
colliculus in the pons, the hand and arm are the most affected, the leg next so, and the lower face and tongue only slightly.
Broca, Pierre-Paul (1824–1880)
French anthropologist, anatomist, and professor of clinical surgery at the Biceˆtre in underlying meningiomas or sarcomas, raised Research Association) was relaunched in Paris, later a politician. He described 1997 to represent all aspects of neuroscience hemispheric dominance and determined intracranial pressure, visual disturbances, while continuing many of the traditions of that right-handedness was associated with exophthalmos, and seizures. the BRA with a new style. The condition probably represents the representation of speech in the left sarcomatous change in a long-standing hemisphere, thus defining the anatomical meningioma.848 British Paediatric Neurology correlate of nonfluent aphasia (1861).858 Association A professional He also described the major features of Brissaud–Marie syndrome organization. Web site: www.bpna.org.uk. motor or expressive aphasia in his patient Hysterical glossolabial paralysis in which the ‘‘Tan’’ and was the first to trephine for a deviation of the face and of the tongue are British Society for Clinical cerebral abscess which he had localized unphysiological with respect to the limb Neurophysiology A professional correctly by clinical means (the only means 849, 851, 5333 weakness. organization. Web site: www.bscn.org.uk. available). He reported in 1865 the cases of 8 aphasic Brissaud–Meige syndrome See (‘‘aphemic’’) right-handers with left British Society of hemifacial spasm. hemisphere lesions and stated that the left Neuroradiologists A professional inferior frontal convolution was the center organization.Web site: www.bsnr.co.uk. Brissaud–Sicard syndrome Facial for articulate speech.859, 2856 He also hemispasm associated with contralateral described muscular dystrophy before Brixa–Koppens sign See Gowers hemiparesis due to a caudal-ventral pontine signs. Duchenne, rickets, the treatment of cerebral lesion, described in 1908.850 aneurysms, clubfeet, fractures, and the use of broad A band disease A rare, benign hypnotism in surgery. As an anthropologist he was interested in Bristowe, John Syer (fl. 1885) congenital myopathy characterized clinically craniology (naming the inion, bregma, English neurologist and Fellow of the Royal by neonatal hypotonia, with or without dacryon, lambda, metopion, obelion, and Society who described the effects of callosal congenital blindness due to retinal opisthion) and he was involved in the tumors in Brain in 1885. dystrophy, and delay in speech and development. Ultrastructural abnormalities discovery and reports on Neanderthal man. He founded the French school of Bristowe syndrome (callosal include disorganization of myosin thick syndrome) The pattern of symptoms filaments leading to a loss of A band/I band Anthropology. associated with tumors of the corpus demarcation and an impression of callosum, comprising negativism, broadening of the A band. See also Leber disturbances of memory, concentration and congenital amaurosis.4530 personality, and hemiparesis.143 Tumors affecting the anterior part of the corpus Broadbent, Sir William Henry callosum may lead to apraxias of the left hand (1835–1907) English neurologist and as well. cardiologist who trained in Manchester and London, studying further under Trousseau in British Journal of Neurosurgery A Paris after graduation. He practiced largely neurosurgical journal. Address: Carfax from St. Mary’s Hospital, London, and was Publishing Company, P.O. Box 25, elected a fellow of the Royal Society in 1896. Abingdon, Oxfordshire OX14 3UE, He was created a baronet as a result of his England. Web site: http://www.tandf.co.uk/ services as physician to Queen Victoria and journals/titles/02688697.html. King Edward VII. His neurological publications concerned British Medical Journal A leading hemiplegia, aphasia, and the following. general medical journal, publishing also neurological papers. Web site: http:// Broadbent apoplexy Intracerebral www.bmj.com. hemorrhage which penetrates into the ventricles.857
British Neuropsychiatry Association (BNPA) An academic and professional body for medical
Broadbent Law With a lesion of the upper motor neuron above the facial
Figure B–11 Pierre-Paul Broca.
Brown, Sanger
137
Broca aphasia (Broca dysphasia,
Broca’s area (Broca’s convolution) The Bronx cheer A derogatory expression, a
nonfluent aphasia, agrammatic aphasia) A classic nonfluent dysphasia characterized by awkward slow and effortful articulation, loss of prosody, impairment of repetition and naming, and restriction to simple grammatical forms in speech and writing (agrammatism) so that spontaneous speech is of a ‘‘telegraphic’’ type. Agrammatism leads to the use of single words, words with a high substantive content (nouns and verbs) but few articles, pronouns, prepositions, or conjunctions. The normal syntactic relations are lost. Repetition and confrontation naming are also much affected but there is relative preservation of comprehension. Phonetic disintegration (mainly shown as trouble in initiating speech and in selecting and blending words) and mispronunciation of phonemes (such as B for P) also occurs. The causative lesion involves the posterior part of the inferior frontal gyrus of the dominant hemisphere, the anterior parietal region, the insula, and both banks of the Rolandic fissure with deep extension.858 The condition has been separated into two types:
motor speech area; the posterior part of the inferior (third) frontal convolution, on the left side in a large majority of people.
Broca’s area infarction syndrome See Broca aphasia.
compound of eructation and retching. When involuntary, it is classified as a complex vocal tic, a manifestation of Tourette syndrome; when voluntary, it is classified merely as an expression of opinion.
Brossard, Jules (1855–1911) French
Broca’s convolution See Broca area. physician. Brodmann, Korbinian (1868–1918) German physician who initially trained in psychiatry in Jena, Frankfurt, and Berlin but who was later appointed professor of anatomy successively in Tubingen, Halle, and Munich, where he pioneered the study of cytoarchitectonics.
Brodmann areas Fifty-two cortical areas, containing 11 regions distinguished by the structure and disposition of their cellular layers (cytoarchitectonics) defined by Brodmann in 1903–1908.1670
Brody syndrome (Lambert–Brody syndrome) A slowly progressive, recessive muscle disease of childhood mapped to chromosome 16p12; and due to functional deficiency of Ca2þ ATPase in the sarcoplasmic reticulum of fast-twitch skeletal muscle. The onset is in childhood Persisting Broca aphasia (big or true Broca with impaired muscle relaxation after aphasia) which usually begins with a voluntary contraction, in the limbs and face, global aphasia and right-sided paresis stiffness, cramping and myalgias, worsened with evolution to a state in which spoken language is comprehended but by exercise and cold. Strength is normal nonfluent and agrammatical speech with between episodes. Serum CK levels may be poor repetition remains, due to extensive mildly elevated, but rhabdomyolysis is rare. damage affecting not only the inferior left The EMG shows that the cramps are frontal gyrus but also the surrounding electrically silent. Muscle biopsy reveals only cortex and the underlying white matter type II fiber atrophy.862, 293, 540 Dominant and basal ganglia, as above. Broca area infarction syndrome (little, mild, or inheritance has also been reported.
Brossard scapulo-distal syndrome A scapulo-peroneal syndrome, probably recessively inherited.880
Brown, Charles Leonard (b. 1899) American pathologist, practicing in Boston and New York.
Brown–Peterson paradigm A test used for the assessment of short-term memory. It typically consists of the presentation of a set of three items, after which the patient is asked to engage in some distracting activity such as counting backward from a three-digit number for between 2 and 30 s. Reproduction of the originally presented material is then requested. Between 10 and 20 trials are usually administered.5003 Brown–Symmers disease (acute serous encephalitis) See acute disseminated encephalomyelitis.887
Brown, Jason W. American neurologist in Los Angeles. Brown syndrome (‘‘A syndrome of the
neural crest’’) 1. Loss of deep pain sensitivity, retention of superficial pain, autonomic dysfunction, hypoplasia of dental enamel, meningeal thickening and cystic change, acute Broca aphasia) A nonfluent hyporeflexia, mild mental retardation, and agrammatic output is present at the bromide A halogen introduced by blond hair, blue-green eyes, and a fair beginning of the disorder, comprehension Locock for the treatment of ‘‘hysterical’’ complexion.893 is preserved, and the speech disturbance epilepsy in 18573890 on the bases that The authors suggested that this improves to a state of near normality epilepsy was (at least in some cases) a association of signs indicated that there was a except for some impairment in prosody. manifestation of abnormal sexual tendencies failure of differentiation of the neural crest as Any initial mutism is replaced by rapidly and that bromides had been found to cause the underlying embryonic abnormality. 2. abating dyspraxic and effortful impotence. As a result of Locock’s paper, See superior orbital fissure syndrome. articulation and there is significant Drs. C.B. Radcliffe and Sir Samuel Wilks permanent disturbance in language both generalized the indications for its use to Brown syndrome See superior function. The lesion responsible is a organic epilepsy. restricted infarction of the posterior oblique tendon syndrome. The condition portion of the dominant inferior frontal was described by Dr. H.W. Brown in 1950. gyrus.4431 bromide partition test A chemical Brown, Sanger (1852–1928) test performed on CSF samples providing Canadian-born neurologist who trained in evidence for or against a diagnosis of Broca dysphasia See Broca aphasia. medicine at Bellevue. He introduced a new tuberculous meningitis.4043
Brown ataxia
Figure B–12 Sanger Brown.
system of classification of patients at the mental hospital where he was first appointed which led to the discharge of a number of them; and he achieved prominence in psychiatry, going on to be medical superintendent in other hospitals in the northeastern United States. In 1886 he studied neurology with Sharpey-Shafer in London and established the role of the occipital lobe in vision. He settled in Chicago in 1890, becoming professor of forensic medicine and hygiene at Rush and of clinical neurology at the University of Illinois.
Brown ataxia See Sanger Brown ataxia. Brown-Se´quard, CharlesEdouard (1817–1894) A neurologist of Eurasian and Irish-American parentage who was born in Mauritius (and was thus a British citizen) but who trained in Paris, first for a literary and later for a medical career. Trousseau was one of his teachers, and after graduation he worked with Baron Larrey. His thesis on the physiology of the spinal cord was accepted in Paris in 1846; in it, he described the sensory decussation within the cord. Constrained by the Second Empire and short of money, he left France on a slow ship (chosen so that he would have time to learn the English language) and visited New York, returning later to Mauritius (where a gold medal was struck to commemorate his handling of a cholera epidemic) before settling to practice in Richmond, Virginia in
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1855, from which city he felt it proper to withdraw following a tactless remark of his about slavery and the resulting remarks of others upon his own mixed blood. He returned to Paris in that year and published his findings on the functions of the adrenal glands. In 1858 he lectured in London, Glasgow, and Dublin, after which he was held in the highest esteem and was elected Fellow of the Royal Society and also Fellow of the Royal College of Physicians in 1860. At this time he was appointed as the first physician to the National Hospital, Queen Square, a position which he held until 1863 when he accepted the Chair of Nervous Pathology at Harvard. There he remained until the death of his wife in 1868, when he returned to Paris and accepted the Chair of Experimental Physiology at the Faculte´ de Me´dicine. In 1872 he returned to New York and remarried, but he went again to Paris on the death of his second wife 2 years later. He crossed the Atlantic over 60 times. In 1877 he accepted the post of professor of physiology at Geneva, married for the third time, and remained in Geneva for a year before succeeding Claude Bernard as professor of experimental medicine at the Colle`ge de France in Paris, a post that he retained until his death. Although noted for many physiological observations, including that of caloric testing (45 years before Ba´ra´ny), of the effects of removal of the suprarenal glands and of the vasomotor functions of sympathetic nerves, his name is chiefly remembered for his descriptions in 1850 and 1851 of the syndrome resulting from lateral hemisection of the spinal cord, popularly (but probably incorrectly) thought to have been brought to his attention by the activities of the Parisian mafioso who settled their scores with stilettos so thin as to be able to penetrate into the spinal canal903 and for his demonstration that excision of the adrenal glands was followed by features of Addison disease. He also reported (1856) spontaneous ‘‘convulsions’’ with limited generalization resulting from disease of the spinal cord and also resembling the pains of trigeminal neuralgia (see next entry). His medical interests exceeded neurology,6427 and he reported, late in life on the effects he experienced from the selfinjection of an extract of guinea pig testicles, which he regarded as entirely satisfactory.
Figure B–13 Charles-Edouard Brown-Se´quard.
Brown-Se´quard spinal epilepsy Muscle spasms resulting from the presence of an irritative lesion affecting the motor fibers in the spinal cord. Despite the name, the condition is not truly epileptic but rather a form of segmental myoclonus.645
Brown-Se´quard syndrome Damage to the lateral half of the spinal cord, leading to ipsilateral loss of pyramidal and posterior column function and contralateral spino-thalamic loss, with evidence of a root lesion at the site of the cord injury. Direct trauma was once, an extrinsic compressive lesion is now, the commonest cause.903
Brown–Vialetto–Van Laere syndrome See pontobulbar palsy with deafness.
Bruch membrane The structure supporting the pigmented epithelial layer overlying the rods and cones in the retina. Bruck–de Lange syndrome A fatal infantile syndrome of psychomotor delay, extrapyramidal rigidity, movement disorder, and local or generalized muscular hypertrophy.1504 See De Lange syndrome. Brudzinski, Josef (1874–1917) Polish physician who graduated from Moscow and specialized in pediatrics. After a tour of European schools he returned to Warsaw and then was appointed head of a children’s hospital in Lodz, transferring to Warsaw again as Rector of the University. The sign
Brushfield–Wyatt syndrome
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Bruns nystagmus The combination of
for which he is best remembered (entry following) was described in 1909.908
Brudzinski signs 1. Neck phenomenon Flexion of the hips and knees (sometimes with extension of the hallux and fanning of the toes) in response to passive neck flexion. 2. Contralateral leg sign The involuntary flexion or extension of one leg in response to forceful passive flexion of the other leg at the hip (straight leg raising).908 In each case it is a sign of meningeal irritation or inflammation. The reciprocal contralateral leg sign is seen when one leg is flexed at the hip and knee and the other is extended. When the flexed limb is lowered to the bed, the other leg flexes. 3. (Cheek sign) Flexion of the elbows with upward jerking of both arms in response to pressure on the cheeks.909 4. (Symphysis sign) Flexion of the legs in response to suprapubic pressure.421 Most of these signs were described in patients with tuberculous meningitis.5333, 5704 Brueghel syndrome See orofaciomandibular dystonia.
Brugada syndrome Right bundle branch block with ST segment elevation of the caved in type in EKG leads V1–V5, predisposing to ventricular arrhythmias or sudden death in up to 8% in 2 years.
small-amplitude, rapid jerk nystagmus in the primary position, beating away from the side of an extra-axial mass lesion compressing the vestibular nerve and the brainstem, in association with slow, largeamplitude gaze-evoked or gaze-paretic nystagmus toward the side of the lesion.6910 The syndrome occurs typically with cerebello-pontine angle tumors characterized by gaze paretic nystagmus evoked by gaze to the side of the tumor and by vestibular nystagmus evoked by gaze to the opposite side.
Figure B–14 Ludwig Bruns.
Berlin with Westphal and Oppenheim, he left to direct the department of internal medicine in Hanover where he was later appointed professor. In 1892 he described the gait disorder named for him917 and wrote on hysteria, callosal tumors, goiter, tetanus, Parkinsonism, the optic nerve, birth injuries, and diabetes. He was also the author (in collaboration) of a large and influential Textbook of Pediatric Neurology.919
Bruns ataxia See Bruns gait apraxia.
bruit (Fr, noise) An abnormal sound generated as a result of the turbulent flow of Bruns gait apraxia (Bruns ataxia, blood within arteries and heard through a apractic, or magnetic gait) Inability to stethoscope. initiate the process of forward motion by alternating steps, although the power and bruit de poˆt feˆle´ See cracked-pot note. coordination of the legs is normal in the lying or sitting positions. The maintenance Brumback syndrome A congenital of the feet on the floor, removed only with dysmorphic syndrome characterized by great effort, has led to the alternative name microcephaly, cerebral atrophy, agenesis of magnetic gait. the corpus callosum, and Brushfield spots on This static ataxia in the presence of frontal the iris. lobe disorders is due to involvement of the descending efferent frontocerebellar fibers and Brunauer syndrome A dominantly was originally described in the setting of frontal lobe tumors but is now more commonly seen in inherited syndrome of mental retardation, frontal ischemic disease. The constellation of defective enamel formation, and abulia, psychomotor retardation, primitive hyperhidrosis with hyperkeratosis of the reflexes, and ideomotor apraxia with cerebellar palms and soles.2506 findings is suggestive.917 The entity is of uncertain validity and has Bruns, Ludwig (1858–1916) German been considered to have cerebellar, apraxic, neurologist who studied at Munich and agnosic, and labyrinthine components.919 Go¨ttingen and trained in neurology with Hitzig and later in Paris. After some time in See frontal dysequilibrium.
Bruns syndrome Vertigo, vomiting, headache, and visual disturbance during change in head posture; a sign of cerebral tumors, usually in the posterior fossa but also occurring with, for example, bilateral subdural hematomas.918 The original description was of a man with cysticercosis, who had no symptoms unless he moved his head quickly.144 brush allodynia The perception of pain in response to a non-noxious cutaneous stimulus, such as stroking the skin with an artist’s paintbrush or a piece of gauze. See allodynia.
Brushfield, Thomas (1856–1933) English psychiatrist working in mental deficiency.
Brushfield spots Mottled or speckled, white or light yellow pinpoints regularly placed in a ring near the outer margin of the iris, found in 90% of people with Down syndrome and in about a quarter of normal subjects when they are known as Wolfflin nodules. Brushfield could not find the spots in patients with brown irides.920
Brushfield syndrome See Sturge– Weber syndrome.
Brushfield–Wyatt syndrome Generalized and trigeminal port-wine stains with a calcified angioma in the underlying cerebral hemisphere producing hemianopia and hemiparesis, and mental defect.921 The similarity to Sturge–Weber syndrome is obvious. The term has also been used for tuberous sclerosis.
bruxism
bruxism (nocturnal tooth-grinding) A stereotyped movement disorder occurring during partial arousal from sleep (and thus a parasomnia), characterized by unconscious tight jaw closure with stereotyped rhythmic grinding of the teeth occurring especially during nonrapid eye movement stage 2 sleep, unassociated with EEG abnormalities.5555 See also sleep disorders.1629 Damage to the teeth and to the temporomandibular joints may result. The condition also occurs during periods of rapid eye movement sleep.
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buckthorn neuropathy (tullidora) A toxic syndrome characterized by flaccid ascending motor weakness and ataxia, resulting from the ingestion of the berries of Karwinskia humboldtiana, a Central American shrub. The pathological changes include both segmental demyelination of the motor nerves and neuronopathy.4398 buckthorn plant Ingestion of the berries of this plant may cause an ascending Guillain–Barre´-like paralysis.
Budge, Julius Ludwig (1811–1884) bruxomania Persistent, conscious
to weakness of the face and tongue, dysphagia, dysarthria, and dysphonia. The first description was that of John Bunyan in 1680.
bulbar palsy with deafness See Vialetto–van Laere syndrome
bulbar palsy with deafness and pigmentary retinopathy See hereditary motor neuropathy (variants).
bulbar palsy with olivopontocerebellar atrophy
tooth-grinding.
Professor of anatomy and physiology in Bonn See cerebellar ataxias. and later in Pomerania.1670
BSA(P)Ps (Brief, Small, Abundant
Budge centers The spinal cord at
Polyphasic Potentials) A recruitment pattern of motor unit action potentials recorded during electromyography, usually during minimal contraction and usually suggesting the presence of primary muscle disease. Although the term is discouraged by the AANEM nomenclature subcommittee,19 the pattern is quite distinctive and the acronym quite satisfactory to most electromyographers.
buccal apraxia (oral apraxia) Impairment in performing mouth or face actions on verbal command or imitation (see also orofacial apraxia) or to perform learned, skilled movements with the facial and bulbar muscles—for example, inability to protrude the tongue to command. With this is associated difficulty in imitating meaningless movements made by the examiner. The responsible lesion is of the opercula or the anterior perisylvian regions.41, 3540 See also apraxia. buccal reflex (snouting; Toulouse, Vurpas, oral, nasomental reflex) Approximation of the lips when the upper lip is tapped; a sign of pseudobulbar palsy. See also orbicularis oris reflex. For a sign of relatively slight importance, this number of alternative names is peculiar.
Buchem syndrome See hyperostosis corticalis generalisata familiaris. buckling sign Involuntary flexion of the extended knee when the hip is flexed during straight leg raising. This is evidence of irritation of the sciatic spinal nerve roots.
bulbar spinal muscular atrophy of childhood See Fazio–Londe disease.
C7–T6, from which fibers pass out to the sympathetic chain, named the cilio-spinal bulbar spinal muscular atrophy center by Budge and Waller; they also with deafness See Vialetto–van Laere identified the genito-spinal center in the sacral syndrome. cord.
bulbocavernosus reflex (virile reflex) Sudden contraction of the generally with a voltage gain of l, a bulbocavernosus and ischiocavernosus high-input impedance and a low-output muscles and of the anal sphincter with impedance, and used to isolate the input squeezing or irritation of the glans penis or signal from the loading effects of an clitoris. The same reflex can be elicited with immediately following circuit. In some EEG electrical stimulation of the dorsal nerve of machines, each input is connected to a buffer the penis, with recording by a single-fiber amplifier located in the jack box to reduce needle in the bulbocavernosus muscle.6557 cable artifact and interference. (Adapted The reflex was described as a normal from the 1974 report of the Committee on phenomenon in 1890 by Jacques Onanoff, Terminology, IFCN. In: Chatrian, GE, but he noted that it is absent with advancing Bergamini L, Dondey M, et al. A glossary of age and regarded it more useful as evidence terms most commonly used by clinical of retained virility than of neurological electroencephalographers. EEG Clin disease, considering that when it was present Neurophysiol 1974; 37:538–48 and in impotent or in neurasthenic patients it reproduced by kind permission of Elsevier signified that the condition did not have an Science and the IFCN.) organic basis. Absence of the reflex suggests a neurogenic cause for bladder dysfunction, bulbar (from Gr, a bulb or any rounded indicating neural integrity of L5–S5, but structure) Of or pertaining to the medulla mainly of the S2,3,4 segments. The response oblongata. is increased in patients with pyramidal tract lesions.1909 bulbar encephalitis See Bickerstaff brainstem encephalitis. bulbomimic reflex (Mondonesi reflex) In metabolic coma, eyeball pressure bulbar myoclonus See palatal leads to bilateral facial grimacing; with coma myoclonus. due to a focal brain lesion, the grimace is seen on one side only. bulbar palsy Lower motor neuron bulbospinal neuronopathy (spinal weakness of those muscles supplied by the and bulbar muscular atrophy, Kennedy VII through XII cranial nerves as a result syndrome) A heterogeneous group of usually of pontomedullary lesions, motor neuropathies, nerve compression at the skull disorders of unknown cause affecting infants base or myasthenia gravis; and leading thus or young adults who present with distal buffer amplifier An amplifier
Burkitt lymphoma
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weakness, fasciculations, and postural tremor. Twitching of the chin is a typical finding. Dysarthria and dysphagia follow later. The depression of muscle stretch reflexes and the detection of mild sensory disturbances differentiate the condition from motor neuron disease and from hereditary motor neuropathies. Inheritance by all modes has been described and the course of the disease shows extreme variability. Variant forms include: 1. Kennedy syndrome (Kennedy–Alter–Sung syndrome) A relatively benign X-linked bulbospinal neuronopathy due to a triplet repeat (CAG) mapping to Xq21.3–q12, also with onset in adult life, in which gynecomastia, bulbar and facial weakness, perioral fasciculations, hypertrophy and cramping of the calves, and postural tremor are the most prominent features.3385, 288 Progressive proximal spinal and bulbar atrophy of late onset is probably the same condition. 2. The juvenile form of X-linked proximal spinal muscular atrophy, with calf enlargement. 3. A rare phenotype of GM2 gangliosidosis.6290 4. Familial bulbospinal neuronopathy with optic atrophy.4891
Bull angle The angle between the plane of the hard palate and the plane of the atlas vertebra on a true lateral skull X-Ray film. The normal angle is less than 58, while patients with basilar impression often have an angle measuring over 138.934 Although a popular measure, it has been criticized because the first reference point is not part of the base of the skull, and is therefore unsuitable when defining the relationship of different parts thereof, such as the rim of the foramen magnum.
Bu¨ngner bands Basal laminae which assist in the orientation of sprouting axons.
Bunina bodies Eosinophilic, rounded or elongated intra-cytoplasmic inclusion bodies with clear haloes found in the motor neurons of the spinal cord, brainstem, and motor cortex in amyotrophic lateral sclerosis. Burdach, Karl Friedrich
(1776–1847) German physician, anatomist, and physiologist; professor in these bulldog reflex Involuntary clenching of disciplines in Dorpat and then in the teeth in response to the sensation of any Ko¨nigsberg. He was a member of the object placed between them; shown by some ‘‘Naturphilosophen’’ group, concerned with speculative generalizations on brain patients with frontal lobe tumors.645 functions. He introduced the terms biology and Bumke, Oswald Conrad morphology to medicine and named the globus Edward (1877–1950) German pallidus (1819), internal capsule, putamen, neurologist and psychiatrist who studied lenticular nucleus, red nucleus, cingulum, medicine in various German universities, cuneus, and amygdaloid nucleus and graduating from Kiel. He rose through the classified the thalamic nuclei, as well as ranks in Freyberg, Halle, Rostock, Breslau, writing widely in other areas of pathology Leipzig, and Munich, succeeding Kraepelin and physiology.4338 He named the fasciculus in Munich. He is best remembered for cuneatus and discovered the red nucleus describing the pupillary sign, but he also before Stilling. He was also a neuropublished extensively on various psychiatric anatomical historian; in his Vom Baue und topics.5704 Leben des Gehirns (1819–1826) he attributed See also lower motor neuron disease. He collaborated with Foerster in the to Willis the first description of the corpus production of the Handbuch der Neurologie striatum, pyramids, olives, and the anterior bulbospinal system Pathways which (1935–1937), which became the most commissure, and the description of the originate in the brainstem, descend to spinal influential book (in 17 volumes) on the anatomy of the connections of the cerebellar subject in European neurology. He attended peduncles, the stria medullaris, and of the XI levels and are concerned in the control of Lenin in his last illness (a stroke). movement and of posture. cranial nerve.
bulimia (Gr, a particle þ hunger) Morbid Bumke (anxiety) pupils Dilatation hunger; excessive appetite with decreased of the normal pupil in response to a stressful satiety after eating. psychic stimulus, with an impaired light response. The sign was described by Bumke in his book Die Pupillenstorungen (Jena, 1903) bulimia nervosa (Gr, a particle þ and is said to be absent in schizophrenia, hunger) (Binge eating) 1. Morbid hunger; presumably because of lack of affect. excessive appetite with decreased satiety after eating. 2. A chronic but self-limiting eating disorder characterized by an episodic bundle of Turck A fiber pathway desire to eat large amounts of food, running from the posterior temporal region accompanied by a sense of loss of control and to the pontine nuclei and thence to the often of depression; each episode being cerebellar vermis, probably responsible for followed by purging, starvation, and fasting. the retention of whole-body movements in As with anorexia, the patients manifest a cases of apraxia. fear of fatness, a desire for thinness, a distorted body image, and a denial of bungarotoxin (a-BTX) The lethal illness.5475 The American Psychiatric factor in the venom of the banded krait, Association criteria (DSM-IV-TR)171 which binds so completely and specifically to amplify this description. Web site: http:// acetylcholine receptor sites that it supplies a www.psychiatryonline.com/ method for their quantification. content.aspx?aID=3610.
Burdach column (fasciculus cuneatus) The lateral part of the posterior (dorsal) columns of the spinal cord, named by Burdach in 1819. The medial part (fasciculus gracilis) is named for Goll. The Burdach nucleus is the cuneate nucleus. See also cuneate fasciculus and nucleus. Burkitt lymphoma A multicentric tumor composed of poorly differentiated lymphoid cells, common in East Africa and described by Sir Denis Burkitt from Uganda in 1958. Clinically, swellings of the jaw, orbit, and face and ovarian infiltration are the usual features. Neurological complications include direct or ischemic myelopathy, multiple cranial neuropathies affecting especially the oculomotor and VII cranial nerves, malignant meningitis, seizures, and delirium.
burn encephalopathy
burn encephalopathy The acute onset of reduction in the level of consciousness, often with confusion, seizures, or neurological signs, or any of these in combination, in patients (especially children) suffering from severe burns. The syndrome is not homogeneous. It affects some 5% of children at risk (usually with over 30% of the body surface burned) within a few days of the injury, but is usually reversible. Multiple metabolic problems are considered to be responsible.4426 The syndrome was first noted by Dupuytren in 1832.
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vitamins, as occurs in malnutrition states and uremia2485 but a dominantly inherited form has been reported.6067
burst neurons Neurons which, with
pause neurons, are found in the paramedian pontine reticular formation (PPRF) and which generate the high-frequency burst burning hands syndrome A forme discharges that act as the command for fruste of the central cord syndrome in which saccades to occur. limited injury has spared many of the fibers usually affected in that condition but has led burst suppression An EEG pattern characterized by bursts of theta and/or delta to reduced input into the spino-thalamic waves, at times intermixed with faster waves tract from the cervical segments.4093 and with intervening periods of relative quiescence. burning mouth syndrome The term should be used to describe the (glossodynia, glossopyrosis, oral EEG effects of some anesthetic drugs at certain dysesthesias) A syndrome of persistent burn neuropathy Multiple awareness of a painful, burning sensation in levels of anesthesia. (Adapted from the 1974 Report of the Committee on Terminology, mononeuropathies occurring in severely the mouth and/or tongue seen mainly in burned patients, often with associated mature adult women, for which no medical IFCN. In: Chatrian GE, Bergamini L, Dondey complications of sepsis. Vascular occlusion of or dental cause can be found. The causes are M, et al. A glossary of terms most commonly the vasa nervorum, direct thermal injury, multifactorial; ill-fitting dentures, vitamin used by clinical electroencephalographers. EEG Clin Neurophysiol 1974;37:538–48. and a disseminated neurotoxin are suggested B deficiency, anxiety, depression, and Reproduced by kind permission of Elsevier as mechanisms.4097 cancerphobia are all cited as etiological Science and the IFCN.) factors.3652 Diagnostic criteria have been The pattern is typically seen in hypoxic burner–stinger syndrome Stretch defined: brain damage and in prolonged status injury of the upper fibres of the brachial A. Pain in the mouth present daily and epilepticus, and it indicates significant plexus, not causing nerve root avulsion but persisting for most of the day compromise of the brain’s metabolic sufficient to rupture some axons. It is usually B. Oral mucosa is of normal appearance integrity, with a poor prognosis. seen following an athletic injury in which C. Local and systemic diseases have been the head was forcibly distracted away from excluded Burton sign The blue line in the gums the side of the plexus injury. Clinically, there From the International Classification of just below their junction with the teeth in is immediate, severe burning pain in the Headache Disorders (Headache Classification chronic lead poisoning, described by shoulder region and distally, with Committee of the International Headache Dr. H. Burton (1799–1849), a physician at paresthesias, dysesthesias, and sometimes Society; Cephalalgia 2004;24 [Suppl 1]) St. Thomas Hospital in London. arm weakness, lasting minutes. The by kind permission of Dr. Jes Olesen, prognosis for recovery is good. the International Headache Society and Wiley-Blackwell Publications.
Burnett syndrome (milk–alkali syndrome) The occurrence of weakness, depression, nausea, headache, and mental confusion in patients with hypercalcemia and alkalosis, due to excessive intake of milk and soluble alkalis.947
Burns syndrome See oculoauriculocutaneous syndrome.
Buschke Cued Recall (selective reminding) test A test of verbal
learning and memory using confrontation naming, which coordinates the encoding and retrieval of new information for cued recall burst A group of waves which appear and with an initial search strategy. The subject is disappear abruptly and are distinguished required to name the objects shown in a series from background activity by differences in of pictures (e.g., ‘‘Which one is a piece of Burnier, Louis-Rene (1880–1952) frequency and/or amplitude. The term does clothing?’’), is prompted if he fails to name it, French dermatologist, practicing in Paris. not imply abnormality and is not a synonym and finally is told the answer. Following a for paroxysm. (Adapted from the 1974 distracting task, he is required to recall as Report of the Committee on Terminology, many of the 12 pictures shown as he can.956,957 Burnier syndrome (hypophysial nanism) A syndrome of short stature, optic IFCN. In: Chatrian GE, Bergamini L, atrophy, and adiposogenital dystrophy, with Dondey M, et al. A glossary of terms most or without obesity, due to a pituitary tumor commonly used by clinical Buschke–Fuld selective destroying the anterior lobe in childhood.949 electroencephalographers. EEG Clin reminding procedure A test of Neurophysiol 1974;37:538–48. Reproduced recent memory wherein the subject learns 12 by kind permission of Elsevier Science and words over a dozen trials, being reminded burning feet syndrome (Gopalan only of those words which he failed to recall syndrome, hot feet, happy feet, painful feet, the IFCN.) on the preceding trial. After 12 trials, he is jittery legs) A sensory neuropathy causing required to note from a multiple choice list aching, burning, numbness, tingling, and burst lobe The occurrence of an aching in the legs with vasodilation of the intracerebral or intracerebellar hematoma in those words with which he had difficulty.957 feet, worse with heat and better with cold. It continuity with a subdural hematoma, The test is very sensitive to the presence of is generally due to deficiency in B-complex following cerebral trauma. cognitive change.
Bywaters syndrome
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Busse–Buschke disease See
butterfly infarct The pattern of
Buzzard reflex A variant of the knee
cryptococcal meningitis.
infarction with occlusion of the precommunal part of the posterior cerebral artery and thus of the penetrating arteries springing from it; and involving the medial part of the midbrain tegmentum and the medial part of the thalamus bilaterally. Pupillary disorders and disturbances of eye movement result.
jerk, in this case obtained as the patient sits with his toes pressing on the floor as a facilitatory maneuver.5333 See nocioceptive reflex.
butterfly area The nasal and adjacent malar regions of the face.
butterfly glioma A glioma which has
spread from one hemisphere to the other directly through the corpus callosum. These lesions may have started within the corpus callosum and, by infiltrating both frontal lobes, Buzzard, E.F. (1871–1945) English lead either to increasing stupor or to emotional physician, Regius Professor of Medicine at lability, irritability, or delusional states.5648 Oxford.
Bywaters syndrome Traumatic/ ischemic myositis with myoglobinemia and myoglobinuria and shock, sometimes leading to renal failure and usually described after extensive crush injuries.969
c C fibers Unmyelinated sensory nerve
C waves (Traub–Hering waves)
fibers in the peripheral nervous system, feeding in from receptors which respond to temperature, chemical, and high-threshold mechanical stimulation.
Low-amplitude fluctuations of the CSF pressure occurring at 4–8/min, normally present but enhanced in states of raised intracranial pressure. The waves correspond with changes in arterial blood pressure.
C reflex An abnormal reflex response representing the electrophysiologic correlate of sensory-evoked myoclonus. The term ‘‘C’’ was chosen to indicate that the reflex might be mediated in the cerebral cortex, which is sometimes, but not always, true.19 This enhanced long-latency EMG response is found in a stimulated muscle (and sometimes in the homologous muscle on the opposite side), particularly in patients with myoclonic disorders, time-locked to a peripheral nerve electrical stimulus and equating a myoclonic jerk.
C syndrome (Opitz trigonocephaly syndrome) A recessively inherited craniofacial malformation syndrome characterized by trigonocephaly and microcephaly with ridging in the metopic region due to synostosis of the metopic suture, hypotelorism, Mongoloid slant to the eyes, epicanthic folds, strabismus, short neck, congenital cardiac malformations, and skeletal anomalies including syndactyly.4799, 4808
cacacusis Frightening echoes of
muscle biopsy shows the presence of scattered atrophic fibers. The condition is the result of severe malnutrition, malignancy, or other systemic illness. Cachexia mercurialis was the term applied to widespread ulceration occurring in syphilitic patients treated with mercury; cachexia saturnia is an old term for chronic lead poisoning.
mechanical sounds or of words heard or said, cachodic (from Gr, a bad smell) Having a symptomatic of right hemisphere bad smell. lesions.5521 See also palinacousis.
CACH (vanishing white matter disease) A heterogeneous leukodystrophic condition of childhood with variable course resulting from maldevelopments of myelin formation (dys- or hypomyelination) rather than from demyelination.5600, 6484 See fatal infantile leukodystrophy. cachectic myopathy (neuromyopathy) A syndrome of proximal atrophy with relative retention of power. Both neuropathic and myopathic causes are suspected, whereas the underlying problem is considered to be nutritional.
cacogenesis (Gr, bad þ origin) A morbid malformation, such as a monster. cacogeusia (Gr, bad þ taste) The perception that all food in the mouth has a foul taste; a symptom of local disease, partial damage to the olfactory nerve, or depressive illness. cacophonia (Gr, bad þ lack of þ voice) Hoarseness of the voice. cacosmia (Gr, bad þ smell) Perception of all food as having a foul smell. The causes are similar to those of cacogeusia.
cachexia (Gr, bad þ a habit) Severe loss of CADASIL See cerebral autosomal subcutaneous tissue and muscle bulk, the dominant arteripathy with subcortical infarcts latter without commensurate weakness; and leukoencephalopathy. See also CARASIL.
calcification of the basal ganglia
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CADASIL coma An uncommon complication of the underlying arteriopathy, manifesting as an acute encephalopathy lasting a week or two after presenting with fever, acute confusion, coma, and seizures. There is eventual full recovery but the condition may recur.5636 cadet palsy See rucksack palsy. cadiva insania (Lat, falling þ senseless) An ancient term for epilepsy. caducus (Lat, falling) Hence caducus morbus—another ancient term for epilepsy. Cadwalader, Thomas (1708–1779) American physician who first described lead palsy and lead colic in his Essay on the West Indian Dry-Gripes published in Philadelphia by Benjamin Franklin in 1746.5333
caeruleus (ceruleus) (from Lat, dark blue) Blue, azure. cafe´-au-lait spots Brown skin macules, possessed by many healthy people but a diagnostic requirement for von Recklinghausen disease, in which condition there must be more than six present. At least one of these should measure over 5 mm in its longest axis in prepubertal people; after puberty, at least one should measure more than 15 mm.
Caffey–Silverman syndrome See infantile cortical hyperostosis.
cage paralysis Vitamin B12 deficiency
Cajal, Santiago Ramon y (1852–1934) Spanish neurohistologist and anatomist who trained in Saragossa. He was appointed professor of anatomy at Valencia at the age of 29 but later transferred to Bologna and then returned to Spain as professor of histology and morbid anatomy in Madrid. His major work Histologie du syste`me nerveuse de l’homme and des verte`bres (Paris, 1909–1911) established him as the father of neurohistology, although some of the credit belongs to Camillo Golgi, a modification of whose silver stain Cajal used and with whom he shared the Nobel Prize in 1906. His textbook of general pathology5176 became a standard source. Cajal also introduced a silver nitrate stain to show the content of the neuronal cytoplasm; this stain was employed by Alzheimer to demonstrate neuro-fibrillary tangles. Among his students Figure C–1 Sir Hugh William Bell Cairns. or collaborators were Lorente de No, Lafora, and Wilder Penfield. Cajal enunciated his neuronal theory in the Radcliffe Infirmary as the first Regius three parts. First, nerve cells are independent Professor of Surgery at the University of elements which do not anastomose (as in a Oxford. syncytium) but make contact only at specific During World War II he established and points. Second, nervous impulses are always ran a head injury base hospital in Oxford and transmitted from the cell body out to the organized mobile neurosurgical teams for axon. Third, the axon conducts away from the the front. He designed a crash helmet and leg cell body. His autobiography has recently guard for motor cyclists which led to the been published.5177 saving of many lives and fractures. His numerous publications included studies of Cajal cells Astrocytes. gliomas and subdural hematomas, the use of antibiotics, problems of consciousness, and Cajal stain A metallic impregnation neuro-ophthalmology.3181, 5666 method of staining astrocytes, using gold chloride sublimate.
Cairns syndrome 1. persistent
vegetative state with near-complete loss of all but ocular movements and of emotional response. ‘‘Oft-repeated commands may be carried out in a feeble, slow, and incomplete caida de mollera See fallen fontanelle. manner but usually there are no movements of a voluntary character.’’ Voluntary extraocular movements, chewing, Cairns, Sir Hugh William Bell (1896–1952) Australian neurosurgeon, born swallowing, and breathing are maintained. and educated in Adelaide and seeing service There is incontinence, and in some cases, decorticate rigidity. Fluctuations may occur. in World War I before returning to The condition is produced by lesions in Australia, graduating in 1917. He was later and around the third ventricle. Cairns elected to a Rhodes scholarship at Balliol considered that this state was due to a College, Oxford, and, following that, disorder of cortical function secondary to a worked at the London Hospital. After diencephalic lesion.977 2. Hydrocephalus studying with Harvey Cushing on a due to blockage of the CSF pathways by Rockefeller fellowship, he turned to 976 neurosurgery and later joined the staff first of meningitic exudate. the London Hospital and the National Hospitals for Nervous Diseases in Queen caisson disease See decompression Square and Maida Vale and subsequently of sickness.
in captive primates fed a fruit diet deficient in that vitamin.
calamus scriptorius (Lat, a quill or
reed þ of a writer) The inverted triangle, somewhat resembling the point of a pen, on the dorsum of the medulla in the floor of the fourth ventricle; so named by Herophilus, a Greek physician and anatomist in Athens (335–280 BC).
calcification of the basal ganglia 1. An asymptomatic condition discovered fortuitously on X-ray studies, CT scans, or MRI scans of the head. 2. Calcium deposition in the basal ganglia as occurs in numerous progressive white matter degenerations, true and pseudohypoparathyroidism, hyperparathyroidism, mitochondrial cytopathies, some infections including HIV infection and toxoplasmosis, tuberous sclerosis, Down syndrome and systemic lupus erythematosus, and also
calcinosis universalis following many forms of toxic, radiation, or other damage to neural tissue. See striato-pallidal calcification. 3. A specific fatal syndrome in infants who present with microcephaly, bilateral spasticity, dystonia, and CSF lymphocytosis.77 See also choroido-cerebral calcification syndrome.
calcinosis universalis See Profichet syndrome.
calcitonin myopathy A myopathic syndrome also characterized by medullary carcinoma of the thyroid, neuromas of the tongue and eyelid, prominence of the lips, and stigmata of Marfan syndrome and skin pigmentation.1381
calcium ATPase deficiency A rare disorder of muscle characterized by exertional muscle contractures with rhabdomyolysis and impaired muscle relaxation, due to a deficiency in sarcoplasmic reticulum-ATPase.5060
calcium gene-related peptide A neurotransmitter normally found at cholinergic sites in the motor system but also released in the walls of cranial vessels in migraine attacks, at which sites it has a local inflammatory action.
Calderon syndrome (kinky hair–photosensitivity–mental retardation) A congenital dysmorphic syndrome characterized by sparse, brittle, and kinky hair, absent eyebrows and eyelashes, skin photosensitivity, and mental and developmental delay.381 See also Menkes disease. calf head sign A suggested appearance of the dorsal muscles in Miyoshi myopathy seen when patients raise their arms with the shoulders abducted and the elbows flexed to 908.5106
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and southern Canada and occurs seasonally, mainly in early fall, presenting with typical features of encephalitis with focal neurological signs and stupor but with a low mortality and few residua.3227 See also www.cdc.gov/ncidod/diseases/submenus/ sub_encephalitis.htm.
hand as a result of infarction of the anterior corpus callosum.6671 See apraxia.
callosal disconnection The
association of tactile anomia, agraphia, and apraxia affecting the left hand, described in multiple sclerosis.5630 Left-ear suppression on dichotic listening tasks is another feature California Verbal Learning Test of the syndrome. A test of aural learning, recall, and recognition memory for a list of words over callosal fissure The space between the five trials and allowing assessment of different dorsum of the corpus callosum and the components of memory as well as of retrieval overlying hemisphere. strategy and other executive functions.1558
Call–Fleming syndrome (benign angiopathy of the central nervous system, postpartum angiopathy, thunderclap headache with reversible vasospasm, migrainous vasospasm, migraine angiitis, drug-induced cerebral arteritis) The occurrence of vasospasm following subarachnoid hemorrhage, hemorrhagic stroke, or numerous other conditions including eclampsia, exposure to vasoactive and antidepressant drugs and to blood products, pheochromocytoma, unruptured cerebral aneurysm, head trauma, migraine, and exertion.979 The clinical presentation is most common in adult women who present with thunderclap headache, nausea, vomiting, photosensitivity, and various neurologic symptoms and signs occurring secondary to ischemia of brain regions now perfused by a very constricted artery. Seizures and transient hypertension are also described. The CSF is normal but angiography or MRA shows multifocal segmental areas of cerebral arterial vasoconstriction and interspersed dilatation (‘‘beading’’). These findings and the clinical deficits should return to normal within 3 months unless an infarct has occurred. The condition is classified as a reversible cerebral vasoconstriction syndrome.979 See also posterior reversible leukoencephalopathy and primary angiitis of the central nervous system.
calibration The testing and recording of the responses of EEG channels to voltage differences applied to the input terminals of their respective amplifiers. DC (usually) or callosal agenesis Failure of formation AC voltages of magnitude comparable to the of the corpus callosum due to a developmental failure during embryogenesis. See agenesis of amplitudes of EEG waves are used. the corpus callosum. California encephalitis Direct viral callosal anomia See anomia. infection of brain due to bunyavirus members of the arbovirus group. Clinically, the disease typically affects children in the callosal apraxia A disconnection central and eastern parts of the United States syndrome manifesting apraxia of the left
callosal syndrome See Bristowe syndrome.
callosotomy Section of the corpus callosum: a surgical therapy for intractable generalized and akinetic seizure disorders for half a century, now more widely accepted than heretofore on account of reduced morbidity from the use of microsurgical techniques.4756 Calmeil, Louis-Florentin (1798–1895) French physician, chief of the Charenton Hospital, who described general paralysis in a book in 1826, immediately after Bayle’s description of the same condition. He also introduced the term absence into medicine. His book Malades Inflammatoires du Cerveau (1859) included accurate descriptions of cerebral hemorrhages, syphilis and other acute and chronic infections, delirium, and meningitis.
calmodulin The main calcium-binding protein in cells. Ca2þ ATPase is the main enzyme responsible for removal. With depletion of high-energy phosphates resulting from ischemia, the Ca2þ ATPase system quits and Ca2þ levels increase within cells. High Ca2þ levels are cytotoxic, and cell death only occurs in the presence of Ca2þ. caloric after-nystagmus See vestibular nystagmus.
caloric nystagmus Nystagmus of the type seen in peripheral vestibular lesions and induced by warm or cold stimulation of the labyrinths. Cold stimulation leads to nystagmus with its fast component away from the irrigated side, and warm stimulation produces nystagmus in the other direction. See vestibular nystagmus.
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to show that disinhibition, stereotypic caloric paresis A relative decrease in the responsiveness of one side compared with behavior, elation, anxiety, poor self-care, and the other on caloric testing. See canal paresis. changes in eating habits occur more commonly in patients with frontotemporal lobar degeneration than in those with caloric tests (caloric irrigation tests) Alzheimer disease.6690 The introduction of hot or cold (448C or 308C) water or air into the external auditory meatus to test VIII (vestibular) cranial nerve CAMDEX (Cambridge Diagnostic function through stimulation of the receptors Examination) A highly reliable clinical instrument, of value in diagnosing in the semicircular canals. The change in dementia, in measuring cognitive ambient temperature sets up convection currents in the endolymph of the horizontal impairment, and in assessing behavior and adaptation in everyday life. The measure semicircular canal when the subject lies includes a standardized, structured interview supine with the head elevated 308 from the with a relative or other caregiver and horizontal. These induce vertigo and incorporates data from other sources, nystagmus (with the fast component away from the canal when irrigated with cold, and including a patient interview, a cognitive toward the canal when irrigated with warm) examination, and interviewer observations. in the normal subject, the maximal velocity of Three diagnostic scores (for organicity, multi-infarct dementia, and depression) can the slow component being recorded using be derived. Items of the Blessed Dementia electronystagmography. See also canal Scale are included within the CAMDEX paresis, directional preponderance, and as one of the measures of cognitive Barany Test. decline.5429, 5429 See also the CERAD instrument.4499 calpainopathy Mutations of the calpain-3 gene, the most common cause of adult-onset, recessively inherited limb girdle muscular dystrophy with the usual onset in late childhood or adolescence of scapular–humeral–pelvic muscle weakness and atrophy and with the early development of severe contractures.3454
camel sign The appearance of a sensory
action potential with two peaks when recorded over the median nerve at the wrist with stimulation of the fourth finger. The mechanism concerns the innervation of the fourth finger by both the ulnar and the median nerves; in carpal tunnel syndrome a small-amplitude ulnar sensory nerve action calsequestrin storage potential can be recorded from a point over myopathy A mild ‘‘surplus protein’’ the median nerve, as can the delayed median myopathy, sometimes only presenting as sensory nerve action potential, the two asymptomatic elevated serum CK levels, in producing the ‘‘double-humped’’ appearance. which toluidine blue-stained semithin The sign was originally noted by Dr. Charles sections of muscle specimens reveal Simpson of Victoria, British Columbia, who heteromorphic inclusions, likely to be also pointed out that the normal response is a constituted by an excess of proteins normally potential with a single peak (the dromedary present in the terminal cisternae of response), the abnormal one having two, like 6346 sarcoplasmic reticulum. a Bactrian camel.5855
calvaria, calvarium (from Lat, baldness) The vault of the cranium. calvarial hyperostosis (Morgagni syndrome) See hyperostosis frontalis interna.
Cambridge Behavioral Inventory A reliable informant-based assessment of neuropsychiatric symptoms and everyday functioning of people with dementia. Cross-validation with the Neuropsychiatric Inventory shows good concurrent validity, which has been used
Camera syndrome (neuralgic osteopathy) Lumbosacral inflammatory osteopathy of adults, causing radiculopathic pain which is worse at night, and weight loss.590 The similarity to ankylosing spondylitis is great. CAMFAK syndrome A recessively inherited syndrome of CAtaracts, Microcephaly, Failure to thrive, Arthrogryposis, and Kyphoscoliosis; also with decreased myelination in the CNS, cerebral calcifications, pyramidal signs, and peripheral neuropathy.
Whether this condition has its own identity or is merely a severe variant of Cockayne syndrome is not yet determined.6197
CAMOS See cerebellar syndromes (congenital ataxias). campimetry The measurement or plotting of the visual fields.
campomelic dwarfism See campomelic variant.
campomelic syndrome See campomelic variant.
campomelic variant (campomelic syndrome, campomelic dwarfism) A congenital dysmorphic syndrome characterized by dwarfism, hypertelorism, nasal hemangiomas, micrognathia, cleft palate, platyspondyly, mesomelia of upper and lower limbs, and skeletal anomalies of the skull, long bones, and spine, with delayed closure of the fontanelles, wide cranial sutures, and hydrocephalus.4094 camptocormia (from Gr, kamptos
[curved] þ kormos [the trunk]; [functional bent back, Souques disease]) 1. In the elderly, an acquired kyphosis increasing during walking, totally reducible in the dorsal horizontal position, and sometimes accompanied by other neurological or systemic disorders.2904 2. A posture of severe maintained neck flexion resulting from, for example, amyotrophic lateral sclerosis; myopathy such as inclusion body myositis, facio-scapulo-humeral dystrophy, or nemaline myopathy; stroke; dystonias; or Parkinson disease or its variants.6442 There are some even less common etiologies.313 3. A bizarre posture of maximal trunk flexion, adopted primarily while walking. In some cases, it represents a hysterical condition in which the spine is greatly flexed, even though it remains flexible and in which there is compensatory extension of the head on the neck. It was first described by Sir Benjamin Brodie in 1837 and has been known by his name; practically all the cases seen early in the last century were soldiers during the two world wars. Hurst regarded it as always hysterical in nature,5963 but the first two categories above indicate that he was wrong. See also Pisa syndrome.
camptodactyly
camptodactyly A dominantly inherited abnormality of the hands characterized by permanent flexion of one of more fingers, usually at the proximal interphalangeal joints.3676 In variant forms, deafness and muscular hypoplasia are also described. The condition is also a feature of various other congenital malformation syndromes. See also CAP disease, Pena–Shokeir phenotypes, Tel-Hashomer camptodactyly, and camptomelic variant.
Camurati–Engelman syndrome A genetic craniotubular hyperostotic and osteosclerotic syndrome stemming from active overgrowth of bone, in which sclerosis and hyperostosis of the base of the skull and the long bones appear in the first year, associated with conductive deafness and proximal and distal myopathic weakness. The condition has been reviewed.4045 See progressive diaphyseal dysplasia.
Canadian Association for Narcolepsy A Canadian charitable association. Web site: www.connexions.org/Groups/Subscribers/ cxg10972.htm.
Canadian Association of Neurological Nurses A professional organization. Web site: www.cann.ca/.
Canadian Brain and Nerve Health Coalition An organization established as a coalition of various Canadian voluntary health organizations with an interest in neurological disorders, committed to improving quality of life by promoting access to cost-effective treatments, supporting research and education and promoting public and government awareness of the incidence and impact of nervous system disorders and injuries. Web site: www.cnsfederation.org/ gen_info_CBANCH.html/. A list of affiliated organizations follows. Those that are not listed separately in this book can be accessed through the Web site above. Acoustic Neuroma Association of Canada ALS Society of Canada Alzheimer’s Society of Canada
148 Autism Society of Canada Brain Injury Association of Canada Brain Injury Association of Alberta Brain Tumour Foundation of Canada Canadian Alliance of Brain Tumour Organizations Canadian Association of Neuroscience (CAN) Canadian Association of Neuroscience Nurses (CANN) Canadian Brain Tissue Bank Canadian Neurological Sciences Federation (CNSF) Canadian Continence Foundation Canadian Down Syndrome Society National Office Canadian Institutes of Health Research Canadian Paraplegic Association (CPA) Canadian Psychiatric Research Foundation Canadian Spinal Research Organization Canadian Syringomyelia Network Canadian VHL Family Alliance Central Okanagan Brain Injury Society Cerebral Palsy Association of British Columbia Epilepsy Canada Heart and Stroke Foundation of Canada Heart and Stroke Foundation of Ontario Huntington Society of Canada Institute of Neurosciences, Mental Health and Addictions (INMHA) Multiple Sclerosis Society of Canada Muscular Dystrophy Association of Canada Neuroscience Canada Foundation Ontario Brain Injury Association Parkinson Society Canada Le Regroupment des associations de personnes tramatise´es cranio-ce´re´brales du Que´bec Spina Bifida and Hydrocephalus Association of Canada Think First Foundation of Canada Tourette Syndrome Foundation of Canada Tuberous Sclerosis Canada
Canadian Brain Tissue Bank
Canadian Down Syndrome Society A charitable organization. Web site: www.cdss.ca/.
Canadian Headache Society A professional society, now merged with the Headache Network Canada. Web site: www.headachenetwork.ca/.
Canadian Journal of Neurological Sciences (Can J Neurol Sci) The official organ of the Canadian Neurological, Neurosurgical, Child Neurology, and Clinical Neurophysiology Societies (Canadian Neurological Sciences Federation). Address: P.O. Box 4220, Station C, Calgary, AB T2T 5N1, Canada.Web site: www.canjneurolsci.org/.
Canadian Liver Foundation: Hepatic Encephalopathy A site providing an overview of this complication of liver disease.
Canadian Liver Foundation: Wilson Disease A site giving an overview of the condition that includes description, causes, symptoms, diagnosis, treatment, and precautions, at www.liver.ca/ Home.aspx
Canadian Mental Health Association A charitable organization. Address: 180 Dundas St. W, Suite 2301, Toronto, ON M5G 1Z8, Canada. Tel: 416-977-5580. Web site: www.cmha.ca/ bins/index.asp/.
Canadian Movement Disorder Group A professionally inspired informational source for patients with disorders of movement and their caregivers. Web site: www.cmdg.org/index.htm.
Address: Banting Institute, Room 128, 100 College St, Toronto, ON M5G 1L5, Canada. Canadian Neurological Web site: www.utoronto.ca/ Coalition A group formed by the neuropathology/cbb.html. association of a number of Canadian Charitable Foundations concerned with Canadian Cerebral Palsy various neurological disorders for the Association A charitable organization. purposes of advocacy, information Web site (based upon a medical malpractice sharing, and the support of research. site): www.lawmedmal.ca/ Web site: www.cnsfederation.org/ cp_association.htm. gen_info_ CBANCH.html.
Canadian Congress of Neurological Sciences See Canadian Neurological Sciences Federation.
Canadian Neurological Scale A semiquantitative tool for the assessment of neurologic function. It was designed primarily for use in patients following
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cerebrovascular accident, in which situation it has been shown to be both valid and reliable. The scale rates mentation (level of consciousness, orientation, and speech); motor weakness (face and both proximal and distal arm and leg function); and motor responses, comparing the two sides with respect to the face, arms, and legs.1295 (Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.) (See Chart C–1.)
Canadian Neurological Sciences Federation An umbrella organization representing four member societies—the Canadian Neurological Society, the Canadian Neurosurgical Society, the Canadian Society of Clinical Neurophysiologists, and the Canadian Association of Child Neurologists—and publishing the Canadian Journal of Neurological Sciences. Web site: www.cnsfederation.org/index.html.
Canadian Neuropathy Association A charitable organization that provides support for people with
neuropathies by providing education, conducting research, and sharing information. Web site: www.canadianneuropathyassociation.org/.
Canadian Paraplegic Association A charitable organization
Canadian Stroke Strategy A public initiative of charitable and professional groups in Canada designed to improve Canadian stroke care. Web site: www.canadianstrokestrategy.ca/.
Canadian Porphyria Foundation Inc. A charitable
canal (Lat, a furrow) A groove in or a passage through bone or other tissues. Thus Arnold’s canal for the lesser superficial petrosal nerve, Huguier’s canal for the chorda tympani, and Jacobson’s canal for the tympanic branch of the IX cranial nerve. The spinal canal was identified by Etienne.
organization providing support and information on this condition. Web site: www.cpf-inc.ca/.
canal paresis Decreased responsiveness
providing support and information on this condition. Web site: www.canparaplegic.org/en/.
Canadian (Ontario) Rett Syndrome Association A charitable organization providing support and information on this condition. Address: 555 Fairway Rd., Suite 301, Kitchener, ON N2C 1X4, Canada. Tel: 416-494-1954. Web site accessible through www.rettsyndrome.org.uk/ RS_organisations.htm.
of the vestibular apparatus as shown by reduced duration of nystagmus in response to caloric stimulation with water 78C above or below body temperature. The lesion may lie anywhere between the vestibular nuclei in the brainstem and the semicircular canals, but when due to a central lesion, the nystagmus is not enhanced by preventing visual fixation.2172 See also directional preponderance.
Chart C–1. The Canadian Neurological Scale Level of consciousness Alert: Normal consciousness Drowsy: The patient when stimulated verbally, remains awake and alert for a short period of time but tends to doze even when examined Stuporous: The patient responds to loud verbal stimuli and/or strong touch; and may vocalize but does not become alert nor completely wake up Comatose: The patient responds to deep pain (i.e., sternal pressure) 1. Only by purposeful movement of limb toward noxious stimuli and/or grimacing and/or moaning (no verbal response) 2. By nonpurposeful movements, flexion of upper limbs (i.e., decortication) or extension of upper limbs (i.e., decerebration) 3. No response to noxious stimuli Note: If the patient is alert or drowsy, monitor progress with Section A, but if stuporous or comatose, monitor with Section B. Mentation 1. Orientation A. Oriented: Patient is oriented both to place (i.e., city or hospital) and to time (i.e., patient must give at least correct month and year). If early in month (i.e., first 3 days), previous month is acceptable. Speech can be dysarthric (mispronounced or slurred) but intelligible. B. Disoriented or nonapplicable: If for any reason patient cannot answer the preceding questions on orientation (i.e., does not know answer, gives wrong answer, answers only partially, cannot express himself either by lack of words or unintelligible speech or finally ignores questions). 2. Speech (language and pronunciation) A. Receptive language The patient is asked, a. ‘‘Close your eyes.’’ b. ‘‘Does a stone sink in water?’’ c. ‘‘Point to the ceiling.’’ Repeat twice if necessary. If the patient obeys all three commands, continue to (B) expressive language; but if he obeys only two commands or fewer, score the receptive defect in the Speech Scale, and then proceed directly to motor function testing. B. Expressive language In this section pay special attention to not only the answers but also the word pronunciation, for example, dysarthria or slurring. a. Ask the patient to name a pencil, key, and watch; make sure that he can see them. If he names only two or less of them, score ‘‘expressive defect’’ in Speech Scale but if all three objects are correctly named, proceed to (b). continued
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Chart C–1. (continued ) b. Ask the patient, ‘‘What do you do with a pencil?’’ ‘‘What do you do with a key?’’ ‘‘What do you do with a watch?’’ If all three questions are correctly answered, score ‘‘normal speech.’’ Note: (1) The above scoring system relates to language only. Problems with pronunciation of words (dysarthria or slurred speech) are graded directly on the Speech Scale. (2) The patient should always be scored according to worst speech deficit (i.e., language score or mispronunciation) (3) Do not mimic commands in Section A on receptive language. Speech Scale Normal speech: Answers all commands and questions in speech section; patient can have slurred speech (dysarthria) but has to be still intelligible. Expressive defect: The patient obeys commands in receptive language section but makes one or more errors in the section on expressive language and/or mispronounces words (slurred speech), so that the speech is totally or partially unintelligible (severe dysarthria). Receptive defect: The patient obeys only two or less commands in section on receptive language. Motor function When evaluating strength and range of motion in limbs, always submit both limbs to same testing (i.e., apply same resistance at same position bilaterally). Section A1. For patients who do not have comprehension problems (i.e., normal speech or expressive defect only). 1. Face: Ask patient to show his teeth or gums. No weakness: symmetrical grin, no asymmetry in smile. Weakness: facial asymmetry; one corner of mouth lower than other, either at rest or while showing teeth. 2. Upper limb (proximal) The patient should be tested in sitting position if possible. Test: abduction arms (to 908). If the patient is lying in bed: elevate arms to approximately 458–908. The strength in both arms is to be tested simultaneously; resistance must be applied at midpoint between shoulder and elbow at all times. 3. Upper limb (distal): The patient is tested in the sitting or the lying position with the arms elevated and is asked to make fists and to extend his wrists. Compare the range of movement in both wrists simultaneously. If there is a full range of extension in both wrists, proceed to test strength by applying resistance separately to both fists while stabilizing the patient’s arms firmly. 4. Lower limb The patient lying in bed for testing should always be scored according to his worst deficit, either (a) or (b). Test: a. Hip flexion. Ask patient to flex thighs toward trunk with knees flexed to 908. Movement in both thighs is tested separately. b. Dorsiflexion of foot. Ask patient to point toes and foot upward. Compare both feet simultaneously (i.e., complete and partial movement). In both (a) and (b) apply resistance alternately to each thigh and foot after the full movement has been completed to test strength. Gradation of Motor Deficit No detectable weakness. Mild weakness: normal range of motion against gravity, but succumbs to resistance by observer either partially or totally. Significant weakness: cannot completely overcome gravity in range of motion (i.e., partial movement). Total weakness: absence of motion in movement tested or only contraction of muscles without actual movement of limb. Section A2. For patients with comprehension problems (i.e., receptive defect in Speech Scale). Motor function in this section can be monitored in one of two ways: 1. The ability of the patient to maintain a fixed posture in the upper or lower limbs for a few (3–5) seconds. The observer will alternately place the limbs in the desired position. a. Upper limbs: place arms outstretched at 908 in front of patient. b. Lower limbs: flex thighs with knees flexed at 908. c. Facial power: have the patient mimic your own grin. If the patient does not cooperate, then proceed to: 2. Comparison of motor response to a noxious stimuli (i.e., pressure on the nail-bed of the fingers or toes with a pencil). Facial response (grimacing) to pain is tested by applying pressure on sternum. a. Face (grimacing) Symmetrical Asymmetrical (note side) b. Upper limbs: Equal motor response: patient can maintain the fixed posture equally in both upper limbs for a few seconds or withdraws equally on both sides to pain. Unequal motor response: patient cannot maintain the fixed posture equally on both sides; weakness is noted on one side or there is an unequal withdrawal to pain. Note the side on which the withdrawal is not as brisk.
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c. Lower limbs: Equal motor response: patient can maintain the fixed posture equally in both lower limbs for a few seconds or withdraws equally on both sides to pain. Unequal motor response: patient cannot maintain the fixed posture equally on both sides; weakness is noted on one side or there is an unequal withdrawal to pain. Note the side where withdrawal is not as brisk. Symptomatology 1. Presenting symptoms
2. New Symptoms (recurrence)
Type Localization Duration Frequency
Type Localization Duration Frequency
The above symptoms and any remarks should be noted in the progress notes. The side of the weakness should always be identified and the modalities graded numerically on the score sheet. If the patient is stuporous or comatose, monitor progress with the Glasgow Coma Scale. Scoring Mentation Level of consciousness
Alert 30 Drowsy 15 Orientation Oriented 10 Disoriented 00 or NA Speech Normal 10 Expressive 05 deficit Receptive 00 deficit Motor functions: weakness (no comprehension deficit) Face: None 05 Present 00
Arm: proximal
Arm: distal
Leg: proximal
None Mild Significant Total None Mild Significant Total None Mild Significant Total
15 10 05 00 15 10 05 00 15 10 05 00
Leg: distal
With comprehension deficit motor response Face Arms Legs
None Mild Significant Total
15 10 05 00
Symmetrical Asymmetrical Equal Unequal Equal Unequal
05 00 15 00 15 00
NA ¼ not applicable. Adapted from Cote´ R, Battista RN, Wolfson C, et al. The Canadian Neurological Scale: validation and reliability assessment. Neurology 1989; 39: 638–43 with kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
canalolithiasis A state in which the calcific particles normally present in the semicircular canals move abnormally in response to postural changes of the head, exciting the hair cell receptors of the canals and producing a hallucination of rotation. This is considered especially relevant in the genesis of posterior canal benign positional vertigo. See also cupolithiasis.
canalith repositioning A manuever employed in the treatment of patients with benign paroxysmal positional vertigo, whereby the Dix–Hallpike maneuver is performed and the supine subject’s extended head is then rotated to the left or right, held in that position for half a minute, and then turned another 908 in the same direction, the trunk following, for another half minute, after which the subject is raised to the sitting position. The aim of the procedure is to
reposition those otoliths floating aberrantly in the semicircular canal into the vestibule. This and other relevant procedures were redescribed by Fife et al. (2008).2045
considered to be due to asparto-acylase deficiency, in which spongy vacuolation of the brain and spinal cord and demyelination are the pathological hallmarks.3 It is mapped to 17pter-p13, and experimental gene Canavan, Myrtelle M. (1879–1953) therapy has been reported. The neonatal form presents with hypotonia American neuropathologist who trained at and failure to thrive, and is lethal. the Women’s Medical College in The infantile form is a recessively inherited Philadelphia and who became pathologist at the Boston State Hospital and later curator of syndrome occurring among Eastern European Jewish children, and is characterized the Warren Anatomical Museum at pathologically by lissencephaly, spongy Harvard. Her paper on a form of spongy degeneration and vacuolation of the cerebral degeneration was published in 1931. white matter, and loss of myelin with little glial reaction. Increased urinary excretion of Canavan leukodystrophy N-acetyl aspartic acid is a characteristic (Canavan–van Bogaert–Bertrand disease; finding. The main clinical features include aspartoacyclase deficiency; spongy the early onset of psychomotor arrest, degeneration of infancy; infantile CNS megalencephaly, seizures, and drooping of spongy degeneration; cavitating the head due to particular weakness of the leukodystrophy; OMIM 271900) A rare, neck muscles. Myoclonus, spasticity, recessively inherited leukodystrophy,
Canavan–van Bogaert–Bertrand disease involuntary movements, optic atrophy, blindness, and deafness also occur before the final phase of decerebration and death before the age of 5 years.996 The juvenile form begins after the age of 5 years and is characterized by a progressive cerebellar syndrome, optic atrophy, pigmentary retinal degeneration, and dementia. The condition was first differentiated by Van Bogaert and Bertrand in 1949. Canavan herself had considered the condition to be a form of Schilder disease. A variant condition is cavitating leukodystrophy with autonomic failure, characterized by the onset in young adult life of ataxia, orthostatic hypotension, Figure C–2 Walter Bradford Cannon. neurogenic bladder, spasticity, and constipation in presence of the same pathological findings. categorization of the body’s reactions to chronic stress.
Canavan–van Bogaert– Bertrand disease See Canavan
leukodystrophy.
cancellation tests Tests of attention, specifically for visual neglect, wherein the subject is required to find and circle all instances of a specific letter in a field of printed letters or of a specific design in a printed field of designs.4332 cancer-associated retinopathy (CAR syndrome)3481 See visual paraneoplastic syndrome.
candle drippings The irregular outgrowths of the ependyma into the ventricles, producing small tumor-like nodules containing excessive numbers of astrocytes, calcium, and groups of bizarre and vacuolated cells of large diameter as in tuberous sclerosis.
Cannon’s law (law of denervation) Denervated end-organs become supersensitive to their physiological transmitters.
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myopathy associated with Camptodactyly, Arthropathy, and Pericarditis. Neurological features are facial, proximal, and distal atrophy and weakness, short stature, high palate, kyphoscoliosis, pectus excavatum, and seizures. Pathologically the condition is distinguished by a lack of ATPase peripherally in many of the myofibrils, type I fiber predominance, a decrease of myosin, and an abnormal sarcomere pattern.2041
capillary hemangioma See nevus flammeus.
capillary leak syndrome A potentially fatal condition characterized by generalized increased permeability of capillaries and presenting with widespread edema, including cerebral edema and multiple microinfarctions.5620
capillary nevus See nevus flammeus. capillary telangiectasia A small
vascular malformation composed of multiple irregular clusters of dilated capillaries, usually separated by some neural parenchyma and found in the cerebral cortex, cannula plexopathy Injury to the white matter, or brainstem (mainly in the upper or lower brachial plexus resulting pons). Occasionally, they bleed and lead to from cannulation of the jugular vein, usually destruction of small regions locally, in the setting of cardiac surgery. Associated producing seizures or focal deficits such as complications include damage to the vagus, hearing loss, ataxia, vertigo, diplopia, and accessory or hypoglossal nerves, Horner limb weakness.5572, 6 They are also found in syndrome, and phrenic nerve palsy. association with Weber–Rendu–Osler disease but are usually of no clinical Cantelli sign (Widowitz sign, doll’s-eye significance.6030 sign) Dissociated movements of the head and the eyes in diphtheria. When the head is Capgras, J.M. (1873–1950) French raised, the eyes are lowered, and vice psychiatrist. versa.5333 This is not the same as the abnormalities of doll’s head eye movements Capgras syndrome (Fr, l’illusion des described in comatose patients with sosies—the illusion of doubles) A chronic brainstem lesions. delusional psychosis occurring in clear
consciousness, in which patients make the remarkable complaint that certain people callosum and microcephaly) A congenital whom they see (usually family members) are (1871–1945) American neurologist and dysmorphic syndrome characterized by optic only their own doubles, or that they have professor of physiology at Harvard, who atrophy, pigmented retinas, microcephaly, replaced another person of emotional described stress reactions in the ANS and spasticity, aqueduct stenosis, and callosal importance to the patient, such as the showed that sympathetic nerves liberate a agenesis with mental and developmental spouse.1004, 6382 substance (‘‘sympathin’’) which has an 381 delay. adrenaline-like action—and is indeed adrenaline. He was also a pioneer in the Cappeto syndrome A disease of CAP congenital myopathy See physiology of the gastrointestinal tract, unknown cause, possibly immune based and suffering excessive X-ray exposure as a result. CAP disease. See also congenital myopathy certainly resembling systemic lupus His emergency theory, summarized today with caps. erythematosus in its usual occurrence in by the phrase ‘‘fight or flight’’ in relation to young women and its clinical features. These the functions of the sympathetic nervous include multiple retinal branch occlusions CAP disease (CAP congenital system, provided the basis for Hans Selye’s myopathy) A rare, nonprogressive congenital with retinal hemorrhages, field defects, gaze
Cannon, Walter Bradford
Cao syndrome (agenesis of corpus
carcinomatous myopathy
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palsies, and encephalopathy with confusion, psychosis, seizures, pyramidal signs, and almost any other neurological features.1003
capsaicin A neurotoxic agent derived
piriformis syndrome, toilet seat neuropathy, and credit card wallet sciatica.
does not liberate oxygen with the same facility as does oxyhemoglobin. The resulting histotoxic anoxia leads to reduction CARASIL (cerebral autosomal recessive in consciousness in the early stages. In fatal cases, cerebral edema, petechial arteriopathy with subcortical infarcts and leukoencephalopathy) A condition similar to hemorrhages, degeneration of the globus pallidus, and eventually CADASIL but also associated with spinal leukoencephalopathy occur.768 deformities.
from red peppers (paprika) which initially causes pain but later analgesia to chemical and heat stimuli (but not to mechanical touch) by first stimulating and then blocking unmyelinated sensory fibers. It can carbamoyl phosphate be used topically in the treatment of synthetase deficiency A rare post-herpetic neuralgia.6670 congenital hyperammonemic syndrome leading to severe leukoencephalopathy with capsular genu syndrome A neonatal feeding problems, altered facio-lingual stroke syndrome in which the consciousness, cyclic vomiting, seizures, and infarct or hemorrhage is limited to the genu secondary cerebrovascular disease, usually in of the internal capsule, leading to infants with mental and developmental contralateral facial and lingual hemiparesis delay (but also described in an adult). The with dysarthria but with only mild limb condition is due to deficiency of the enzyme weakness.711 essential in the early stages of the urea When the inferior part of the internal cycle.6613 The responsible gene maps to capsule is infarcted, fluctuating alertness, chromosome 2q33. hypokinesia, memory disturbances, and A variant is an incomplete form that abulia are typical clinical features; the whole appears in later childhood.116 may resemble akinetic mutism. The syndrome is considered to arise as a result of carbohydrate-deficient occlusion of the perforating vessels arising from the internal carotid, anterior cerebral, glycoprotein syndrome A group of or anterior choroidal arteries supplying the recessively inherited metabolic disorders. thalamic peduncles. The condition was first Type I presents with early-onset psychomotor retardation and pigmentary described by De´je`rine.1541 retinopathy, usually combined with mild hepatic dysfunction, facial dysmorphisms, capsular warning syndrome subcutaneous lipodystrophy, stroke-like (crescendo TIAs) A distinct syndrome of episodes during childhood, and generalized repetitive motor and/or sensory transient ischemic attacks affecting the face, arm, and seizures. Thoracic deformities are also leg, considered to be related to the region of described. The prognosis for life is good. Types II and III are associated with the internal capsule and frequently succeeded by evidence of capsular infarction, demyelination or hypomyelination and are usually lacunar in nature.1687 The ischemia less well recognized. Patients with type III manifest severe psychomotor retardation, is most often due to hemodynamic tetrapareses, cerebral and optic atrophy, phenomena in diseased single, small retinal pigmentary degeneration, and penetrating vessels. When cerebral 6063 A raised serum infarction develops it is usually lacunar and cerebellar hypoplasia. level of carbohydrate-deficient transferrin is involves a single penetrating vessel, 6063 a marker for the condition. See cerebellar although occasionally striatocapsular or anterior choroidal artery territory infarction syndromes (congenital ataxias). occurs.
capsulothalamic syndrome See thalamic syndrome.
CAR syndrome See paraneoplastic syndromes.
car toll neuropathy Compression of
carbon dioxide narcosis A generalized encephalopathy with increased cerebral blood flow and cerebral edema, resulting from chronic ventilatory insufficiency and carbon dioxide retention.
carbon monoxide encephalopathy A severe
the sciatic nerve under the pirformis muscle, encephalopathy resulting from the in this case by loose change carried in the hip conversion of oxyhemoglobin to pocket by the driver of the car.576 See carboxyhemoglobin, a compound which
carbonic anhydrase II deficiency (marble brain disease) A congenital dysmorphic syndrome characterized by short stature, deafness, optic atrophy with blindness, abnormal dental development, renal tubular acidosis, proximal and distal myopathic weakness, myopathy, intracranial calcifications, multiple fractures, osteosclerosis or osteopetrosis, wide metaphyses, and mental and developmental delay.381
carcinoid myopathy An acquired proximal myopathy with advanced atrophy of type II muscle fibers, developing in subjects with carcinoid syndrome of long standing.6156 carcinomatous meningitis (meningeal carcinomatosis) A rare, usually fatal complication of solid tumors in which the leptomeninges are diffusely invaded by metastatic tumor cells, coating the surface of the brain and spinal cord and infiltrating the Virchow–Robin spaces. The most common primary sites are the breast and lung; melanomas can produce a similar picture. Both clinically and pathologically, the condition resembles meningitis rather than tumor. Headache, visual failure, raised intracranial pressure, multiple cranial nerve palsies, areflexia, meningism, and a variable degree of dementia are the leading clinical features.2074 Malignant cells are found in the cerebrospinal fluid and there is marked meningeal enhancement on brain CT scans. See also cerebral metastases.6663
carcinomatous myopathy A syndrome of monomyositis multiplex with the chief complaint of pain of sudden onset of a few days duration as a result of infarction, possibly from nonbacterial thrombotic endocarditis,2834 or of direct carcinomatous emboli to the proximal muscles.1696 Generalized muscle atrophy (cachexia) in association with systemic carcinoma and acute myonecrosis complicating distant carcinoma6452 are further syndromes under this heading.
carcinomatous neuromyopathy
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carcinomatous neuromyopathy cardioembolic stroke See Syndromes of proximal and axial weakness, usually neurogenic in origin. They are most often considered to be the result of an autoimmune attack but may also be associated with the treatment for an underlying carcinoma with, for example, steroids. See paraneoplastic syndromes.
carcinomatous neuropathy See paraneoplastic syndromes.
carcinomatous sensory neuropathy/radiculopathy A paraneoplastic syndrome of dorsal root ganglionitis and neuronal degeneration presenting subacutely with isolated sensory loss, usually in association with oat-cell carcinoma of the lung.1585 See paraneoplastic sensory neuropathy.
cardiac cephalalgia Headache occurring in association with acute myocardial ischemia. Diagnostic criteria suggested in the ICHD2820 require that the headache, which may be severe, occurs in the context of acute myocardial ischemia, is aggravated by exertion, and is accompanied by nausea; also that the headache resolves and does not recur after effective medical therapy for myocardial ischemia. cardiac encephalopathy 1. Altered alertness with cognitive and behavioral changes seen particularly in patients in congestive heart failure. 2. Apathy and abulia with retained alertness resulting from fluid retention in the cranial cavity in patients with congestive heart failure or other conditions leading to substantial fluid retention.1014
cardiogenic embolism.
Chart C–2. Clinical Features of Cerebral Embolism
1. Abrupt onset of maximal deficit 2. Presence of a potentially embolic source (asymmetrical crying facies) A dominant 3. Multiple brain infarcts involving the cortex congenital syndrome (22q11.2) of unilateral or cerebellum in multiple vascular weakness of the depressor muscles of the territories lower lip with variable severity accompanied 4. Hemorrhagic infarct shown by computed tomography by atrial or ventricular septal defect, mild 5. Absence of atherosclerotic arterial disease by myopathy with raised serum CK, and angiography variation in fiber size on muscle biopsy. Cervical vertebral fusion, adducted thumbs, 6. Angiographic evidence of vanishing occlusions facial dysmorphisms, microcephaly, thymic 7. Evidence of embolism to other organs hypoplasia, and mental retardation are 8. Cardiac thrombi demonstrated by various sometimes found in association. The imaging techniques
cardio-facial syndrome
asymmetry only appears in infants when they cry. The sign itself is of small import, except that it may be a marker for other congenital anomalies, usually cardiac.2504 Although this is usually considered to Chart C–3. Diagnostic Criteria for represent damage to fibers of the VII nerve, the Cardiogenic Cerebral Embolism facts that the weakness is only of the lower Definite Cardioembolic Stroke quadrant and appears only with emotional movements, and that any other deficits are on All of the following; the same side of the body as the facial weakness, 1. No antecedent TIAs in the same vascular all suggest that the original lesion is cerebral. distribution within 2 weeks of stroke
cardiogenic dementia Impairment in cognitive function occurring in patients with cardiac dysrhythmia and resulting relative hypotension and impairment of cerebral perfusion.3681
cardiogenic embolism
(cardioembolic stroke) Emboli arising from the heart and proceeding to the cerebral circulation. They are considered to account for cerebral ischemic infarction in 15% of cases of stroke. The cardiac pathologies responsible and the therapeutic methods have been reviewed and the clinical features suggesting embolism cardiac syncope Syncope due to listed1069 Diagnostic criteria have also been diminished cardiac output as a result of suggested.2329, 4381 (Reproduced by kind dysrhythmia or outflow obstruction. permission of the American Academy of Neurology and Lippincott Williams and cardinal points reflex Deviation of Wilkins.) (See Charts C–2 to C–5.) A the lip and the tongue to the point where a problem in diagnosis is that emboli are often baby’s lip is touched by the examiner’s finger. dispatched when the heart rhythm reverts to Further movements of the finger up toward normal after a period of fibrillation. [JF ] the nose or down to the chin lead to extension and to flexion of the neck, respectively. cardio-inhibitory syncope Fainting due to extreme bradycardia cardinal positions of gaze The nine resulting from excessive vagal stimulation classic points to which gaze may be directed. of the heart. The effect is clinically They are up-left, up-center, up-right; left, demonstrable by increasing vagal cardiac center, and right in the horizontal plane; and activity by placing pressure on the eyeball— down-left, down-center, and down-right. the oculo-cardiac reflex. See cardiac syncope.
onset. 2. Maximal neurologic deficit at stroke onset. 3. CT or MRI evidence of lesion 2 cm or involving cortex or symptoms suggesting cortical involvement. 4. Arterial imaging showing no evidence of significant occlusive disease. (Greater than or equal to 50% linear stenosis in proximal large vessel supply.) Probable Cardioembolic Stroke One of the following; 1. At least two of 1, 2, 3, above, no lacunar syndrome present, and arterial imaging required with no evidence of significant occlusive disease. 2. Vertebrobasilar distribution and 1, 2, 3, above all true and no arterial imaging. Adapted from Miller et al. (1993).4381 Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
cardioskeletal myopathy with intrasarcoplasmic-dense granulofilamentous material See myofibrillar myopathy.
cardiovascular autonomic reflex testing Studies of pulse rate or blood pressure with deep breathing, Valsalva maneuver or tilting. See autonomic function tests.
carnosine
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Chart C–4. Diagnostic Criteria for Cerebral Embolism (2) Criteria for the Diagnosis of Cardiac-Originating Embolism: Presence of any one of the following: 1. Mitral stenosis 2. Prosthetic valve 3. Endocarditis 4. Myocardial infarction within 6 weeks of qualifying stroke 5. Myocardial aneurysm 6. Intracardiac clot or mass 7. Mitral valve prolapse, age under 45, in the absence of a reasonable alternative explanation for the qualifying stroke Or, the presence of any two of the following: 1. Atrial fibrillation (chronic or paroxysmal) 2. Sick sinus syndrome 3. Recent involvement of more than one vascular territory 4. Seizure at onset 5. Hemorrhagic infarct 6. Cerebral artery branch occlusion(s) without overt evidence of extracranial or cavernous sinus carotid disease on arteriography.
and endocrine overactivity.1774 See familial Cushing syndrome.
Low carnitine levels are found secondarily in patients with cirrhosis or schistosomiasis, in those on dialysis, and in those with chronic renal failure not on dialysis, as well as in Carey–Fineman–Ziter people receiving total parenteral nutrition or Syndrome A recessively inherited suffering from Fanconi syndrome, congenital syndrome characterized by mitochondrial myopathies, organic nonprogressive myopathy with hypotonia and acidemias, or muscular dystrophy. The muscle hypoplasia, features of Mo¨bius cardiomyopathy of dialysis is due to carnitine syndrome, facial weakness, dysphagia leading deficiency. See also lipid myopathies. to feeding disorders, microcephaly, facial and skeletal dysmorphisms, and developmental Carnitine Palmitoyltransferase delay. Muscle biopsy shows fiber size Deficiency A newsletter for health care variation and type II fiber predominance. professionals and patients interested in CPT deficiency.
carnitine A small water-soluble molecule, both synthesized in the liver and ingested, which is stored in skeletal and cardiac muscle, where it plays an important role in the transport of the coenzyme A–fatty acid complex across the mitochondrial membrane, and thus in energy availability. It is also concerned in the buffering of organic acids.
carnitine palmityl transferase deficiency An autosomal or X-linked
recessively inherited lipid storage myopathy due to deficiency of this enzyme, which is normally involved in fatty acid metabolism in muscles. Clinically, it presents in infancy as a generalized lethal disease with severe cardiomyopathy; or in childhood, youth, or adult life with exercise intolerance, muscle Adapted from Gent M, Blakeley J, Easton JD, et al. carnitine deficiency A diffuse pain and cramp, recurrent myoglobinuria Canadian–American Ticlopidine study; thrombodisorder, of which two major forms have with nephropathy, and chronic myopathic embolic stroke. Stroke 1988;19:1203–10. been defined: muscular and systemic.1657 girdle weakness1648, 3032 following Reproduced by permission. Type I lipid storage myopathy (myopathic prolonged exertion, fasting, or cold.907 Fat carnitine deficiency) A recessively inherited intolerance and raised serum triglyceride lipid storage vacuolar myopathy leading to levels are usually detected.1039 During cardio-vocal syndrome See Ortner fluctuating but progressive proximal muscle fasting, serum creatine kinase levels remain syndrome. weakness and kyphoscoliosis. Lipid excess is low and ketogenesis is normal. Deficiency of confined to muscle and low levels of the enzyme may be associated with Care4Dystonia, Inc. A charitable carnitine are found in type I muscle susceptibility to malignant hyperthermia. organization. Web site: fibers1371 but not in the serum. In some The genetic mutation in CPT2 is on www.care4dystonia.org/. cases, oral L-carnitine ingestion reverses the chromosome 1. In variant forms: signs of the disease,1868 which has resulted CPT2 is deficient in skeletal muscle and CARE Acronym for the Comprehensive from a deficit in the carnitine-acylcarnitine leukocytes but the CPT1 level is Assessment and Referral Evaluation, a long, carrier system. normal.5633 semistructured instrument which covers Type II lipid storage myopathy (systemic A lipid myopathy is associated with reduced psychiatric symptoms, physical symptoms, carnitine deficiency) A recessively inherited exercise capacity, intolerance to fasting, and performance in the activities of daily syndrome with onset in infancy or childhood, and reduced concentration of carnitine in living, and requests information about muscle and serum, but with normal leading to episodic attacks of metabolic nutrition and economic matters. A short CPTase activity. The possibility of acidosis and hypoglycemia causing form is available.2644 The tool has been flavoprotein deficiency is adduced.1040 encephalopathy, and to slowly progressive Myoglobinuria and weakness occur, widely used in the assessment of elderly proximal weakness with lipid storage in progressing even to acute respiratory failure people who might need referral to health or muscles, cardiomyopathy, and low carnitine following an infection (adult form).595 social services.2645 levels in liver, heart, and muscle. The affected Carnitine deficiency is induced by repeated infants may present with features resembling hemodialysis.446 Caregiver Questionnaire An Reye syndrome with nausea, vomiting, liver Carnitine deficiency accompanies a riboflavineinstrument to measure the quality of life in failure, encephalopathy, and lipid storage responsive lipid myopathy.1040 5625 1657, 3312 children with cerebral palsy. myopathy. In a variant form, dominant lipid myopathy with normal carnitine, lifelong weakness, and carnosinase deficiency Carney complex (Swiss syndrome) See carnosinemia. fat intolerance are associated with lipid A dominantly inherited disorder storage in type I muscle fibers and with type characterized by mesenchymal and peripheral nerve tumors, skin pigmentation, II muscle fiber atrophy.275 carnosine A neuropeptide substance.
carnosinemia
carnosinemia (carnosinase deficiency) A congenital, recessively inherited neurodegenerative syndrome characterized by kyphoscoliosis, aminoaciduria, arachnodactyly, and cerebral atrophy with myoclonic and generalized tonic-clonic seizures, pyramidal and extrapyramidal signs, and severe progressive psychomotor retardation4991 in the presence of high plasma levels of carnosine.
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occur, leading to bradycardia and syncope. The first pathological account was given in 1891 by Felix Marchand (1846–1928), a German pathologist.
30 bpm or a fall in blood pressure of 30 mmHg characterizes borderline states.5592 The syndrome was first described in 1933 by Soma Weiss (1898–1942) and James P. Baker, two American physicians.5619 The central mechanisms involved in CSS may be similar to those that result in neurocardiogenic syncope. Tilt testing may be helpful in diagnosis and SSRIs in treatment.1436
carotid-cavernous fistula (dural carotid-cavernous fistula) A rare syndrome caused by abnormal communications between meningeal branches of the internal external carotid artery and the cavernous sinus. It is most commonly seen in postmenopausal women and may present with carotid sinus reflex Bradycardia carotico-cavernous fistula proptosis, ophthalmoplegia, visual resulting from increased pressure within the (Foix–Jefferson syndrome) Rupture of an impairment, or intracranial hemorrhage.6265 carotid sinuses; a parasympathetic response aneurysm of the intracavernous internal on both the afferent and efferent sides.6350 carotid artery creating an arteriovenous carotid compression test (Matas Either an increase in blood pressure or anastomosis, arterial blood thus flowing into Test) Digital massage of the carotid manipulation of the sinus by pressure from the sinus. Local pain, an ocular bruit (often sinuses, and then compression of the two without will normally induce slowing of the audible to the patient), visual loss, and heart rate. diplopia are the usual symptoms, and retinal carotid arteries in turn during electroencephalography, with the patient’s The reflex is mediated by the IX and X congestion and pulsatile exophthalmos with variable lesions of the III, IV, ophthalmic V, head facing forward or turned to the left or cranial nerves; it was first described by Torald Sollamn (b. 1874), an American and VI cranial nerves are characteristic signs.40 right, in an attempt to assess the adequacy of blood flow in the carotid and vertebral pharmacologist, but his description was elaborated upon by Heinrich Hering carotid (from Gr, to cast into a deep sleep, systems as judged by the clinical or EEG (1866–1948), a German physiologist, in to throttle) The arteries of the neck were so changes induced. The method is now seldom employed; 1923. See also carotid sinus hypersensitivity. called because it was known in ancient times hypotension, cardiac asystole, displacement that animals became sleepy when these vessels were compressed, a fact well known to of atheromatous debris, and ischemic stroke carotid sinus syncope/ are potential hazards; a vague idea of arterial professional wrestlers today. syndrome See carotid sinus patency the questionable reward. hypersensitivity. carotid angioplasty headache
carotid hypoplasia See familial Any new acute headache developing within a hypoplasia of the carotid arteries. week after extra- or intracranial angioplasty has been performed and resolving in a carotid sinus A dilation of the proximal month.2820 portion of the internal carotid artery, containing baroreceptors which send carotid artery syndrome 1. (ocular information on blood pressure via the IX ischemic syndrome) Transient or permanent nerve to the medulla. painless visual loss, lachrymation, visual field losses due to retinal ischemia, vascular carotid sinus hypersensitivity retinopathy, and transient ischemic attacks, (carotid sinus syncope/syndrome, CSS, due to reduced flow within, or emboli from, Charcot–Weiss–Baker syndrome1099) the homolateral carotid artery. See ocular Syncope, confusion, faintness, or seizures ischemic syndrome. 2. See red-eyed shunt resulting from decreased cerebral perfusion syndrome. due to extreme bradycardia or asystole in
carotid tubercle The mass on the anterior aspect of the transverse processes of the sixth cervical vertebra, in front of which lies the carotid artery.
carotidynia (facial migraine, atypical facial neuralgia, Hilger syndrome) A dull, intermittent, aching pain in the neck and in the lower half of the face, sometimes with a throbbing component, with tenderness of the carotid artery. The condition is thought to arise from the adventitial coat of the common carotid artery, either as a form of migraine or as a result of subclinical carotid artery dissection, but superior laryngeal neuralgia has been suggested as another possible cause,4738 and the nonspecificity of the pathologies causing transient unilateral neck pain has led to a suggestion that the whole condition could be expunged from medical nosology.650 The condition was initially described in 1927, but more fully by Dr. J.A. Hilger.2901
response to excessive afferent input from the carotid sinus, usually in older patients with chemoreceptor situated at the bifurcation of atheroma, in whom it may lead to significant the common carotid artery. morbidity related to trauma suffered during falls. In the clinic, manual massage of the carotid sinus is the required diagnostic carotid body tumor (ganglion maneuver. nodosum tumor) A chromaffinoma The cardioinhibitory form is diagnosed (chemodectoma) which infiltrates the region when stimulation of the carotid sinuses leads of the jugular foramen and leads to complaints of pulsatile tinnitus, hoarseness, to 3 s of cardiac asystole or atrioventricular and dysarthria due to dysfunction of cranial block; the less common depressor type is said carpal tunnel syndrome A common to occur when a drop in blood pressure of nerves VII, IX, and X and local pain. entity in which affected subjects (who are 50 mmHg results. Slowing of the pulse by Compression of the carotid sinus may also usually female) complain of paresthesias,
carotid body A chromaffin-containing
cat scratch encephalitis
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numbness, and pain in the hands, especially on waking and following repetitive manual tasks. The cause is compression of the median nerve beneath the transverse carpal ligament at the wrist, the cure surgical decompression. The original description by Putnam5144 seems to have been ignored until the syndrome was rediscovered by Phalen at the Cleveland Clinic and by Lord Brain in London, UK, in 1946. See also Phalen sign, Tinel sign and flick sign. Diagnostic guidelines have been suggested by the American Academy of Neurology.21 (See Chart C–5.) These also list differential diagnostic possibilities, confirmatory studies, further diagnostic tests, and treatment.21 Familial carpal tunnel syndrome is an occasional variant, with its usual onset in adult life.1447 The median-thenar to ulnar-thenar latency difference (TTLD) and the median-thenar to ulnar-hypothenar latency Chart C–5. Diagnostic Guidelines for Carpal Tunnel Syndrome 1. History: The likelihood of CTS increases with the number of standard symptoms and provocative factors listed: Dull aching discomfort in the hand, forearm, or upper arm Paresthesias in the hand Weakness or clumsiness of the hand Dry skin, swelling, or color changes in the hand Occurrence of any of these symptoms within the median distribution Provocative factors include sleep, sustained hand and/or arm positions, and repetitive actions of the hand or wrist. Mitigating factors include changes in hand posture and shaking the hand 2. Physical examination: May be normal Symptoms elicited by tapping or direct pressure over the median nerve at the wrist (Tinel sign) or with forced extension or flexion of the wrist (Phalen sign) Sensory loss in the median nerve distribution Weakness or atrophy of the thenar muscles Dry skin on digits 1–3 (a rare complaint) Adapted from the American Academy of Neurology Quality Standards Committee. Practice Parameters; Carpal Tunnel Syndrome (1993) and reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
difference (THLD) may be the most sensitive electrodiagnostic tests in this condition. The abnormal cutoffs are TTLD, 0.8 ms; THLD, 1.2 ms. In severe carpal tunnel syndrome the subject has evidence of denervation of the thenar muscles as well as the signs listed above.
Carpenter syndrome (acrocephalopolysyndactyly) A rare recessively inherited disorder characterized by premature fusion of all the cranial sutures, which leads to acrocephaly and brachycephaly. Facial dysmorphism, corneal opacities, mental retardation, obesity, syndactyly, pes cavus, polydactyly, congenital cardiac anomalies, and aminoaciduria are also described.1029 See also acrocallosal syndrome and acrocephalosyndactyly.
Carraro syndrome A recessively inherited syndrome characterized by the absence of the tibias and by nerve deafness.1036 Carrio´n disease See Oroya fever. carus (Gr, heavy sleep) An ancient term for deep sleep or coma and also for loss of sensation and voluntary movement. Casal, Gaspar (1679–1759) Spanish physician who wrote the first definitive account of the features of pellagra, including the pigmentation of the upper chest wall, sometimes known as the Casal necklace.
CASM See cerebellar syndromes (congenital ataxias). Casserio, Giulio See Gasser, Johann
carphology (Gr, chaff þ to collect) Picking at the bedclothes, once thought characteristic of typhoidal delirium but in fact a nonspecific sign both of delirium and dementia.
Lorenz.
Castro-Gago syndrome
(microcephaly–albinism–limb defects) A congenital dysmorphic syndrome characterized by generalized depigmentation of the hair and skin, acral defects such as carpometacarpal reflex hypoplastic phalanges and absent or (carpophalangeal reflex, von Bechterew hypoplastic hallux, microcephaly, and reflex) Flexion of the fingers in response to a mental and developmental delay.381 tap on the back of the wrist when the arm is extended; a sign with the same significance cat-box effect A familiar name applied as the finger flexion reflex, of which it is a by H.H. Jasper to the activation of the cat’s variant. EEG through increased activity of the reticular activating system, brought on by carpopedal spasm Cupping of the the desire of the cat to urinate. palm of the hand with extension of the fingers and adduction of the thumb as a cat cry syndrome See cri-du-chat result of spasm of the intrinsic hand syndrome. muscles in tetany. It is typically due to abnormal calcium control of sodium cat eye syndrome (coloboma–anal channels leading to axonal hyperexcitability, as in hypomagnesemia, atresia syndrome) A chromosomal disorder characterized by colobomas of the iris and hypoparathyroidism, and respiratory alkalosis normocalcemic tetany. All forms choroid, facial dysmorphisms, urogenital are worsened by alkalosis resulting from anomalies, congenital cardiac defects, and mental and developmental delay. In many hyperventilation and by ischemia. 3279 A dominantly inherited form is described. cases, trisomy 22 is present. Electromyographically, there are spontaneous repetitive discharges at up to CAT scan See computerized axial tomography. 300 Hz arising in peripheral axons.
carpophalangeal reflex See carpometacarpal reflex.
carpus (Gr, the wrist) Pertaining to the wrist.
cat scratch encephalitis An acute nonfatal febrile illness with encephalopathy (or myelopathy or radiculopathy) due to Bartonella henselae, distinguished by normalcy of the CSF. Seizures and a variety of neurological signs occur with an acute febrile
CAT syndrome illness and meningism. It complicates cat scratch disease, a benign and self-limited disorder manifested usually in children by a skin rash, local lymphadenopathy, and fever.3818, 3979, 5068, 5699
CAT syndrome A congenital dysmorphic syndrome also characterized by skeletal anomalies affecting the skull, spine, facial and limb bones and teeth, sparse fine hair, muscle atrophy, metaphyseal dysplasia, ichthyosis, and mental and developmental delay.381 cataclysmic migraine An unusual vascular episode in the territory of the posterior cerebral artery, in which headache, visual symptoms, sensory and motor deficits, and signs of involvement of the III cranial nerve develop suddenly, clearing but leaving permanent neurological sequelae such as a hemianopias. The syndrome is commoner in females, especially those below the age of 40 years.2094 See posterior cerebral artery syndrome, Call-Fleming syndrome. catalentia Paracelsus’ term for epilepsy. catalepsy (from Gr, a seizure) Increase in
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consisting of the sudden, episodic, reversible, generalized, or localized loss of muscle power and areflexia, without any alteration of consciousness and with abrupt return to normalcy after a few seconds. It is considered to represent a dissociation of awareness and behavior. The clinical manifestations range between a sagging of the jaw, with flexion of the neck and knees, up to sudden powerlessness of abrupt onset lasting between seconds and half an hour. If the attack lasts more than a minute, a dreamlike state supervenes.2626 The sphincters are not affected but other features of the narcoleptic tetrad are often present. The episodes may occur unprovoked or as a reaction to an emotional stimulus, tiredness, or a heavy meal. Unilateral cataplexy is also described but is extremely rare. The term was known to Hippocrates, to whom it denoted any sudden illness but in its modern form was first applied by Henneberg in 1916. See also narcolepsy and the AASM Diagnostic Classification.1629 In status cataplecticus, hundreds of partial cataplectic attacks each day, at a rate of one every few seconds, associated with a peculiar variation of posture and tone. The gait has been described as resembling a puppet on strings, with periods of sagging of the face, limp arms, and buckling knees (limp man syndrome). Various brainstem pathologies have been regarded as causal.5848
muscle tone, leading to the assumption of fixed postures which can be held for long periods without fatigue or other voluntary movement. It is usually associated with psychiatric disease (including schizophrenia and hysteria) or epilepsy. The term has also cataptosis (from Gr, to fall down) A been used in quite the opposite sense for the term of Galen for epilepsy, apoplexy, or sudden paralysis. astatic, falling attacks in narcolepsy.
catastrophic reaction A brief emotional outburst, the behavioral response of a brain-injured or demented subject to frustration, sorrow, or anger because of inability to cope in the performance of a task. The reaction is characterized by acute anxiety, agitation, and tearfulness, cessation of meaningful or cooperative activity, and sometimes uncontrolled hostility. It is associated especially with nonfluent aphasias and with left opercular lesions, and likely results from disturbances in frontotemporallimbic-basal ganglion circuitry.1026
Catastrophic Reaction Scale An 11-item instrument quantitating the severity of this reaction during the clinical interview.6021
catathernia (from Gr, like a groan) A parasomnia characterized by monotonous irregular groans occurring during both NREM and especially REM sleep, alternating with normal breathing. There appear to be no long-term clinical consequences. Patients are unaware, but typically bed-partners are alarmed by the frequent nocturnal noise.6539 The patients have neither respiratory distress or an anguished expression during the groaning, nor are there any abnormal motor behaviors nor any recall of vivid dreams.
catatonia (from Gr, stretching tight,
depressed)5886 A psychiatric and motor disturbance characterized by the presence of at least one motor sign (catalepsy, posturing, catalepsy of awakening See sleep cataract–sensorineural or waxy flexibility of the limbs) in paralysis. deafness syndrome A dominantly combination with at least one sign of inherited syndrome in which the deafness is psychosocial withdrawal or excitement and/ cataleptic hallucinatory fear progressive.4571 or bizarre repetitive movements (mutism, syndrome See Rosenthal syndrome. negativism, grimacing, impulsiveness, stereotypes, mannerisms, command cataract–spasticity–mental catamenial seizures Those occurring retardation syndrome (Martsolf automatism, echopraxia/echolalia, or principally or exclusively during any one syndrome) A recessively inherited congenital verbigeration). The EEG shows low-voltage phase of the menstrual cycle. fast activity. dysmorphic syndrome characterized by Other definitions suggest cataract, ataxia, spasticity, and mental and cataphasia (Gr, an affirmative unresponsiveness to the environment with developmental delay.4128 proposition) Spontaneous or evoked the appearance of consciousness (eyes open repetition of the same word or phrase. but unblinking, oculocephalic responses cataracts–renal tubular impaired but caloric responses intact). The condition was first described by cataphora (Gr, to fall down) An ancient necrosis–encephalopathy See Crome syndrome. Kahlbaum in 1868 and is most commonly alternative term for deep sleep or coma. associated with affective illnesses and schizophrenia but also occurs in a wide range cataplexy (Gr, to strike down) A rapid catastrophic migraine See of metabolic, systemic, toxic, and organic eye movement sleep disorder triggered by cataclysmic migraine, posterior cerebral cerebral diseases.1548 events which stir the emotions and artery syndrome.2096
causalgia
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catch-up saccades (back-up saccades) Brief, small corrective saccades which augment the velocity of pursuit movements in order that they shall match that of the moving visual target. When the velocity of the pursuit movements is too high, back-up saccades exert a braking function with the same purpose. See gain of pursuit eye movements.
Caton, Richard (1842–1926) Scottish physician, whose physiological researches led to the first (1874) description of the electrical potential changes in the brain, described while he was a lecturer at Liverpool, where he later became professor of physiology.5978 His work was not recognized until Berger referred to it in his seminal paper in 1929.
It must be noted that lesions seldom affect the nervous system in this nicely classified manner, so that the features of both of these syndromes often occur together.5440 See also conus medullaris syndrome.
caudal Toward the tail; posterior. caudal dysplasia syndrome See caudal regression syndrome.
category fluency test A test of language in which the subject is asked to generate the names of as many different kinds of fruit, vegetables, or animals as he can in 1 min. See also letter fluency test.
cattle-trucking Retinal arteriolar
category test (of Halstead) A sensitive test of abstract reasoning, concept formation, and organizational ability wherein the subject is required to discern similarities and differences between, and to sort and classify, colored shapes on changing bases of reference.
Caucasian A term first used in 1776 by Blumenbach to define the white-skinned races and currently still employed by those who do not know that the term Europoid is anthropologically more correct.
category specific anomia See anomia.
category-specific dysphasia The
stasis; the breaking up of the columns of blood in the retinal arterioles, seen after death. The sign is sometimes dignified by the names of Salsbury and Melvin.
cauda equina (Lat, a tail þ of a horse) The nerve roots of the lumbar and sacral segments which, on leaving the cord within the dural sac, stream downward with something like the appearance of a horse’s tail.
selective preservation or impairment of specific semantic categories among patients with aphasia; these include specific deficits cauda equina syndrome Weakness, in comprehension of the names of body parts reflex change, pain and sensory disturbances in the territory of any of the roots forming or of colors or inanimate objects. the cauda equina (L2, -3, -4, -5, and S1), but often sparing the conus medullaris and thus cathode The negative pole of a galvanic bladder and bowel sphincter function and battery. the motor and sensory functions of S2, -3, -4 (sacral sparing). Clinically, the motor weakness is variable cathodic (Gr, downward þ a way) Proceeding downward, as in the case of the and asymmetrical but typically there is weakness of external rotation and extension efferent nerve impulse. of the thigh at the hip, of knee flexion, and of cation An electrically charged body which all muscles below the knee. Erectile seeks the negative pole in an electrical field. dysfunction may occur in males. The sensory losses are also variable, but assymmetric perineal and saddle sensory loss with loss of Catlin mark (fenestra parietalia erotic genital sensation is typical. Distally symmetricae, foramina parietalia permagna) referred pain or dysesthesia and radicular A familial anomaly consisting of bilateral pain may be present (cf. conus medullaris defects in the parietal bones, first described syndrome). Urinary and rectal incontinence by Lancisi in 1707. Clinically, the subjects and retention are both described. are themselves aware of the defects, but Compression by an intra- or extradural headaches and seizures have only been mass is the most common cause, but it may 3462 associated loosely. occur with any form of spinal injury below the terminus of the spinal cord at the L1–L2 disk space. So-called intermittent catochus (Gr, from þ to detain) An ancient term for catalepsy and for persistent claudication of the cord3344 is a variant due vegetative state. to lumbar spinal stenosis.
caudal paramedian midbrain syndrome A rare brainstem syndrome manifesting bilateral cerebellar dysfunction with dysarthria, ataxia of the trunk and gait, and dysmetric movements of the limbs, worse on one side. Some ocular movement abnormalities may be seen. Although the MRI shows bilateral inferior olivary degeneration, palatal tremor is uncommon. The lesion presumably involves the decussation of the superior cerebellar peduncles.4519
caudal regression syndrome (caudal dysplasia syndrome, sacral agenesis, mermaid syndrome) A congenital developmental disorder characterized by spinal dysraphism, complete or partial absence (aplasia) of the bony structures of the lower spine (sacrum and coccyx), anal anomalies, aplasia of the lumber facets, and usually visceral anomalies, incontinence, and a neurogenic bladder depending on the extent of involvement of the lumbosacral cord and roots.1746, 5551, 6712 The cause of the syndrome is unknown but maternal diabetes is a common association, while in other cases autosomal dominant inheritance has been recorded.
caudate (Lat, equipped with a tail) A nucleus within the basal ganglion complex, its long ‘‘tail’’ curving around in a C-shape.
cauloplegia (Gr, stem þ a stroke) Paralysis of the penis.5103 Presumably this means impotence. causalgia (Gr, burning heat) (reflex dystrophy, shoulder-hand syndrome, mimoausalgia, algodystrophy, neurodynia, traumatic neuralgia, post-traumatic pain syndrome, reflex sympathetic dystrophy, sympathalgia, Sudeck atrophy, minor causalgia, sympathalgia, deafferentation pain) A syndrome of severe, persistent burning pain, felt commonly in the
causalgia–dystonia distribution of a nerve at any time following partial damage to that nerve (especially the proximal median, ulnar or sciatic), but also felt in more distant regions, occurring in patients with nontraumatic nerve lesions or a phantom limb; and accompanied by sudomotor and vasomotor changes and eventually secondary atrophy of skin, joints, muscle, and bone in the affected region.5643 Abnormal discharges in sympathetic efferents, sensitization of peripheral receptors, or ephaptic transmission between sympathetic and nociceptive afferent fibers has been incriminated in causation; sensitization of spinal cord nociceptive neurons is a likely central mechanism. Typically, the subject cannot bear anything to touch the affected areas, and heat, movement, and emotion worsen it, although local cooling or block of the sympathetic fibers at a proximal level may provide relief. Tremor, dystonias, and chorea occur in a few cases. The syndrome also occurs sometimes with diseases of the CNS such as stroke, myelopathy, cervical osteoarthritis, and multiple sclerosis, with immobility after myocardial infarction, following frostbite and burns and with phenobarbital ingestion. Stages have been defined: the acute stage of pain, hyperpathia, and allodynia last weeks after injury and is succeeded by the dystrophic stage after about 3 months. The pain now radiates more widely, joints swell, muscles atrophy, and osteoporosis can be shown. The atrophic stage is the end-stage of the condition, in which there are irreversible trophic changes in the skin and underlying structures, with joint contractures. Weir Mitchell, as a result of his Civil War experiences, saw this condition frequently and applied the term to such a severe, persistent, and burning pain following nerve injury,4402 although the first modern account of all was that of Denmark,1579 whose patient had been injured in the Peninsular War. The term is probably best reserved for the combination of burning pain and autonomic disturbances occurring in the circumstances he described (nerve injury), the syndrome similar in whole or part (or when arising in other contexts) being termed reflex sympathetic dystrophy. See also deafferentation pain and complex regional pain syndrome.
causalgia–dystonia A psychogenic disorder characterized by fixed spasms resembling contractures, with rapid onset,
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caveolinopathies Mutations in the caveolin-3 gene (CAV-3) causing limb girdle muscular dystrophy type IC and other muscle diseases. Caveolinopathies may represent 1% of both unclassified LGMD and other phenotypes or with asymptomatic cautious gait (elderly gait, senile gait) A elevation of blood levels of creatine kinase, myalgias, rippling muscle disease, or distal gait disorder characterized by a normal to 3454 mildly widened base, short and slow stride, myopathy. and en bloc turns. There are no shuffling, freezing nor hesitancies in initiating gait. cavernoma See cavernous angioma. Cadence and foot clearance of the support surface are normal. There is mild cavernous angioma (hemangioma, disequilibrium as judged by the response to a cavernoma) Benign vascular malformations push and the difficulty in balancing on one consisting of masses of abnormally dilated foot. and undifferentiated sinusoidal vascular Most patients with this gait pattern are channels with no direct arteriovenous aware of impaired balance and express the communication, lined by a single layer of need for caution to avoid falls. Other endothelium and packed together with little neurological symptoms and signs are or no neural tissue between.6, 4467 They also generally mild and do not form a consistent occur in the skin and liver. picture. The pattern is associated with When dominantly inherited, cavernous musculoskeletal lesions in the peripheral or angiomas are often multiple, occurring central nervous systems.4723 (Reproduced mainly in the cerebral hemispheres, less [modified] by kind permission of the often in the pons and spinal cord. Seizures American Academy of Neurology and and the effects of hemorrhage are the usual Lippincott Williams and Wilkins.) neurological presentations. They are seldom visualized on arteriograms because of the cava septi pellucidi et vergae slow flow of the blood within them, but they (fifth ventricle, ventricle of Arantius, are well shown on CT and MRI scans. pseudocele) Cavities within the septum Clinically, they are characterized by either pellucidum, developing at the site of fusion the lack of symptoms, or by seizures, of the two cerebral hemispheres as a headaches, or focal neurological signs, which secondary cleavage with necrobiosis as the may result from intracerebral hemorrhage. fibers of the corpus callosum cross the On T2-weighted MRI scans they show as midline. tiny hypodense areas, or as larger areas of The cavities (vergae being the posterior of mixed signal intensity with a low intensity the two and closing first) are normally rim, due to the deposition of present during prenatal life but are hemosiderin.5270 A responsible gene obliterated in most people within weeks of (CCM1) has been mapped to chromosome birth. Although they may rarely enlarge to 7q11–q22. See also arteriovenous obliterate the foramina of Monro, thus malformation and angioma. producing hydrocephalus, in an overwhelming majority of cases they have no cavernous sinus A plexus of small clinical effects at all.5769 Their presence was veins within a split in the dural sac beside the first recorded by Julius Caesar Arantius pituitary, through which pass the internal (1530–1589), an Italian physician, in carotid artery and cranial nerves III, IV, V 5619 1571. (ophthalmic division), and VI. severe pain and vasomotor, sudomotor, and trophic changes. There is no benefit from sleep, the geste antagoniste is not seen, and there is no response to botulinus toxin injections.608
Cavanagh variant See hereditary spastic paraparesis.
cavernous sinus syndrome Painful
dysfunction of cranial nerves III, IV, and VI, of the first (and occasionally second) division of the V nerve, and in some cases of the caveolin-3 A muscle-specific transmembrane protein, mutations of which sympathetic fibers, due to a lesion within the are responsible for rippling muscle disease. cavernous sinus. The syndrome was described by Foix in Caveolin-3 protein deficiency is a sensitive 19222136 and by Jefferson in 1938.3180 See and specific marker for primary caveolinopathy. superior orbital fissure syndrome.
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cavernous sinus–lateral wall syndrome See superior orbital fissure syndrome.
cavernous sinus– nasopharyngeal tumor syndrome See Godtfredsen syndrome. cavernous sinus syndrome of Raeder See superior orbital fissure syndrome.
Center for Epidemiological Studies Depression Scale or the following syndrome, and may be acquired as a result of cranial trauma or hydrocephalus,4370 or itself act as a cause of obstructive hydrocephalus.
cavum vergae A congenital syndrome characterized by macrocephaly, posteriorly sited cavum septi pellucidi, and mental/ developmental delay.4370
Cawthorne–Cooksey exercises
A regimen of physical therapy exercises for the eyes and body designed to diminish cavernous sinus thrombosis vertigo due to labyrinthine lesions. See also Occlusion of the venous channels comprising Semont liberatory maneuver. the cavernous sinus.1663 It was most often seen secondary to sepsis, especially cebocephaly (from Lat, a monkey þ mastoiditis, in the preantibiotic era, but head) A form of frontal median clefting of today it is usually a complication of marantic the face, in which there is orbital conditions such as severe dehydration and in hypotelorism with a single blind nostril, the cachectic states associated with cancer. nasal cavity correctly placed but with no Diagnostic criteria were suggested by septum nor columella.379 Eagleton prior to the introduction of modern investigative procedures;1795 and comprise -cele (Gr, a tumor) Suffix denoting tumor. 1. a known site of infection, or septicemia; 2. early destructive signs (such as full retinal veins, proptosis, exophthalmos, collateral venous circulation); 3. oculomotor pareses and trigeminal nerve involvement 4. neighborhood abscesses from the thrombophlebitis situated in the orbit, nasopharynx, occiput or neck, and 5. symptoms of complicating disease such as headache, papilledema, and meningeal signs.
celiac disease A malabsorption
though occasionally described as physician to Caligula. He compiled Greek medical writings into a book De Medicina which flourished but was later lost, bursting forth again in 1478 as one of the first books to be made after the invention of printing and remaining a standard medical text for nearly 300 years at a time when ‘‘many men would not look at the new moon out of respect for the old.’’ In it, Celsus described anesthetic leprosy, migraine, seizures, apoplexy, paralysis, hydrocephalus, spinal injury, and facial neuralgia. See also Paracelsus.
Center for Epidemiological Studies Depression Scale (CES-D) A self-report questionnaire found to be both reliable and valid as a screening tool to identify the presence of depressive symptoms. See Chart C–6. The interview is given by a nurse who shows the depression Chart C–6. Center for Epidemiological Studies Depression Scale
Depression scale syndrome resulting from intolerance to 0 Rarely or at no time (less than 1 day) dietary gluten. In around 10% of cases, 1 Some or a little of the time (1–2 days) neurological syndromes occur, such as peripheral neuropathy, progressive multifocal 2 Occasionally or a moderate amount of time (3–4 days) leukoencephalopathy, cerebellar ataxia, 3 Most or all of the time (5–7 days) progressive myoclonic ataxia, myelopathy, Statements dementia, or myopathy.4968 Burning, 1. I was bothered by things that usually don’t tingling, and numbness in the hands and feet bother me. are typical presentations of cases with 2. I did not feel like eating; my appetite was neuropathy. Nerve biopsy shows axonal poor. 3. I felt that I could not shake off the blues loss.1149 Antigliadin antibodies can be found even with help from my family or friends. in subjects with neurological dysfunction of cavitating sudanophilic 4. I felt that I was just as good as other unknown cause, particularly in sporadic people. leukodystrophy A group of cerebellar ataxia. See also gluten ataxia. 5. I had trouble keeping my mind on what I demyelinating diseases occurring at any time In a variant form, celiac disease is was doing. of life and characterized clinically by accompanied by migraine and cerebral 6. I felt depressed (blue or down). developmental delay or dementia, tonic or calcifications in the occipital and parietal 7. I felt that everything I did was an effort. 1405 clonic seizures, cerebellar and pyramidal regions. 8. I felt hopeful about the future. 215 signs, and cavitating changes in the CNS. 9. I thought my life had been a failure. See Canavan leukodystrophy. cellulalgia 1. Unusually severe pain felt 10. I felt fearful. 11. My sleep was restless. with gentle compression (pinching) of the 12. I was happy. cavum (from Lat, a hollow) A cavity or skin. This is a characteristic feature in 13. I talked less than usual. space. patients with myofascial pain syndromes 14. I felt lonely. and with cervicogenic headaches and may 15. People were unfriendly. represent referred hyperesthesia, although cavum septi pellucidi (Lat, a 16. I enjoyed life. the underlying pathology is quite uncertain. compartment or hole þ a fence þ 17. I had crying spells. 2. Thickened and tender skin in the territory 18. I felt sad. transparent) (the ‘‘fifth ventricle’’) A cystic of one dermatome, the root of which is structure within the septum pellucidum, 19. I felt that people disliked me. irritated or compressed.4029 occurring as a developmental variant and 20. I could not get ‘‘going.’’ declining in prevalence with age.4010 This is a common incidental finding in normal Celsus, Aurelius Cornelius (53 BC Adapted from Radloff LS. The CES-D scale. Appl subjects, but may also be associated with to AD 7) Roman gentleman and writer on Psychol Meas 1977;1:385–401 and reproduced by kind permission of Dr. David Weiss. holoproscencephaly, optic nerve hypoplasia, medicine, probably not a doctor, even
Center for Inherited Disorders of Energy Metabolism (CIDEM) scale response cards to the patient and asks him or her (for each item) to pick the card ‘‘which best describes how you felt or behaved this past week,’’ recording the responses on a form.5806, 5165
Chart C–7. Central Alveolar Hypoventilation Syndrome
A. The patient can have a complaint of either insomnia or excessive sleepiness. The patient is usually unaware of the clinical features observed by others, such as hypoventilation during sleep. Center for Inherited Disorders B. Frequent episodes of shallow breathing of Energy Metabolism (CIDEM) during sleep. C. The absence of primary lung disease, A group of interdisciplinary, clinical skeletal malformations, or peripheral diagnostic laboratories which focus on neuromuscular disorder affecting disorders of mitochondrial function, based at ventilation. Case Western Reserve University. D. Polysomnographic monitoring demonstrates: Center for Narcolepsy 1. Episodes of shallow breathing greater A university-based research institute. than 10 s in duration associated with Web site: http://med.stanford.edu/school/ arterial oxygen desaturation, and one or Psychiatry/narcolepsy/index.html. more of the following: 2. Frequent arousals from sleep associated with the breathing disturbances; Centre for the Research and 3. Bradytachycardia; and Rehabilitation of the Hereditary 4. A minimal sleep latency test that Ataxias www.ataxia.org/ The demonstrates mean sleep latency of less Web site of the National Ataxia Foundation, than 10 min. which is dedicated to improving the lives of E. The disorder can be associated with persons affected by ataxia through support, neurological disorders that affect the CNS control of breathing. education, and research. F. Other sleep disorders can be present, such as periodic limb moment disorder, central central and peripheral sleep apnea syndrome, or obstructive sleep demyelination A syndrome apnea syndrome.
comprising features of both multiple sclerosis and chronic inflammatory demyelinating polyradiculoneuropathy.6288 See chronic demyelinating neuropathy with multifocal CNS demyelination.
From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Medicine 1991/2001. Reproduced by kind permission of the AASM.
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employed. The technique allows assessment of conduction in the descending motor pathways between the cortex and the cord, and has been found useful in demonstrating lesions of this pathway in, e.g., multiple sclerosis.4386 See also central motor conduction.
central congenital alveolar hypoventilation See central alveolar hypoventilation syndrome.
central cord syndrome The occurrence of signs of spinothalamic and pyramidal tract dysfunction below, and of areflexia and hyper- or hypoesthesia at the site of a lesion affecting the central regions of the spinal cord. This may follow hyperextension injuries and other causes of ischemia, or may be the manifestation of intrinsic cord tumors, infections, or syringomyelia.5182 The central cervical cord syndrome leads to complaints of severe pain in the shoulder girdle region and arms, with more weakness of the upper than of the lower limbs, retention of urine, and variable impairment of sensation below the level of the lesion. It results from central cord lesions following severe hyperextension injuries to the cervical spine2985 or to midline cervical disk protrusion. See also burning hands syndrome.
central core disease (Shy–Magee disease; MIM 117000) An uncommon, relatively benign, dominantly or recessively ventilatory impairment resulting in arterial dilated pupils, decreased bowel sounds and inherited, usually nonprogressive myopathy oxygen desaturation that is worsened by urinary retention, and confusion) occurring in which frozen sections of muscle sleep, and occurring in patients with normal as a result of exposure of the CNS to demonstrate single or multiple regions mechanical properties of the lung. within type I myofibers which lack reactivity anticholinergic agents in toxic Diagnostic criteria have been suggested:1629 concentrations. See anticholinergic for oxidative enzymes, phosphorylase, and (See Chart C–7.) syndrome. glycogen, and which have a smudgy See also www.sleepeducation.com/ appearance with the modified trichrome Disorders.aspx/ and congenital central stain. Electron microscopy of the cores shows central aphasia A form of aphasia hypoventilation syndrome. described by Goldstein, now regarded as an lack or absence of mitochondria, reduced glycogen content, and changes in the incomplete form of Wernicke (receptive) central anisocoria Variable contractile apparatus. The gene responsible aphasia resembling conduction aphasia. inequality of the pupils with normal light is located at 19q12–q13.1 and impairs reactions at all times and with normal central cervical cord syndrome function of the ryanodine receptor. Many dilation in response to psychosensory or mutations have been identified. See central cord syndrome. pharmacological stimuli. A lesion of the The clinical features include onset in brainstem, as in multiple sclerosis, has been central conduction time The infancy, proximal muscle weakness, and considered to be causal.6617 latencies between stimulation of the cortical hypotonia with delayed motor development, and, in adults, mild proximal weakness motor areas and the cervical cord, and the central anticholinergic affecting the pelvic girdle mainly, and the onset of the peripheral response. Either a syndrome Signs suggesting atropine magnetic stimulator or stimulation using a facial muscles in some cases. At any age, flat feet, kyphoscoliosis, pes cavus, congenital low-output impedance stimulator is poisoning (dry, flushed and warm skin, central alveolar hypoventilation syndrome A disorder characterized by
central nystagmus
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dislocation of the hips, joint contractures, poor temperature control, and stiffness of the muscles during exercise are often found. Eye movements are normal. The condition is a cause of ‘‘idiopathic’’ hyperCKemia. Both dominant and recessive RYR1 mutations have been reported. Such mutations lead to a broad spectrum and high prevalence of clinical phenotypes and are pathologically responsible for eccentric or peripheral cores, multiple minicores, uniformity of type I fibers with an absence of cores, unevenness of oxidative enzyme staining, marked muscle replacement by fatty tissue in association with cores, or an increase in internal nuclei. They are responsible for this condition as for malignant hyperthermia susceptibility.4554, 5813 Central cores may also be a nonspecific marker for a metabolic disorder. The condition was first recognized by Shy and Magee in 1956.5823 Variants include multicore disease, a syndrome of nonprogressive weakness in which small, short cores lie transversely across the muscle fiber;1874 minicore disease, in which very small foci of Z-line streaming are seen within the muscle fibers;1384 a recessive form resembling multi-minicore disease;2029 and a form with muscle diphosphatase deficiency presenting as a nonfamilial congenital nonprogressive myopathy.3301
brain, using for example transcranial focally in the central and midtemporal magnetic stimulation. See also central motor regions in children between the ages of 4 and conduction. 13 years of age, unilaterally, bilaterally or shifting between the two sides. The number Central European encephalitis of sharp waves is markedly increased by sleep, and discharges may be absent during A direct infection of brain by a flavivirus the waking state. The EEG finding is not member of the togavirus group of necessarily associated with clinical seizure arboviruses, characterized by an illness activity.3787 resembling Russian spring–summer encephalitis except that it is milder and usually resolves without sequelae.6858 central motor conduction The speed of conduction in central motor central facial palsy Weakness of the pathways, estimated by measurement of the lower quadrant of the face due to a lesion of latency of response in a muscle with the upper motor neuron pathway from the magnetic stimulation of the motor cortex contralateral hemisphere. When isolated, and of the appropriate nerve roots.3086 this may be a lacunar syndrome.3019 The upper quadrant (the forehead) is largely central nervous deficiency spared because the neurons innervating the syndrome Garland’s term for the frontalis muscles receive (supranuclear) syndrome affecting starved prisoners of war input from the motor cortex of both who developed failing vision with optic hemispheres, but those innervating the atrophy, nerve deafness, and numbness and muscles of the lower half do not. See also paresthesias of the legs, presumably due to volitional facial palsy, emotional facial nutritional deficiencies.2288 See also palsy, and lacunes. Strachan syndrome.
photophobia.
central fatigue Failure to maintain sustained maximal force due to an unidentified, nonvolitional safety mechanism within the CNS which shuts off the neuromuscular unit when the latter seems to be at risk of damage from excessive contraction.873 The organic nature of the problem was proved by the slowness of recovery times of motor-evoked potential amplitudes using transcranial magnetic stimulation.3844
central deafness See word deafness.
central glare See central photophobia. central neurofibromatosis See
central-distal axonopathy Axonal damage in the peripheral extremities of axons within the CNS, one cause of which is prolonged low-level exposure to acrylamide, an industrial polymer, while the effects of MPTP, clioquinol, and lathyrism, and possibly the biochemical deficits underlying Friedreich ataxia and hereditary spastic paraplegia are others. The clinical syndromes produced include the subacutely evolving onset and progression of a sensorimotor/autonomic peripheral neuropathy, spasticity, optic atrophy, and cerebellar ataxia.6286 See also subacute myelo-optico-neuropathy.
central hematomyelia Traumatic myelopathy, the clinical features resembling those of syringomyelia but in this case resulting from bleeding into the substance of the spinal cord.4393 See Minor disease.
central dazzle See central
central nervous system The brain, the I and II cranial nerves, and the spinal cord. Central Nervous System and Brain Disorders Network An alliance of the National Foundation for Brain Research, the National Association for Clinical NeuroServices, and the National Coalition for Research in Neurological Disorders.
neurofibromatosis and Gardner syndrome.
central neurogenic hyperventilation Hyperventilation
characterized by sustained tachypnea that persists despite an elevated arterial pO2 and pH and a low arterial pCO2. It occurs in the central herniation 1. The lateral and absence of a respiratory stimulant and forward shift of the diencephalon and the persists during sleep. In most cases it is due to hepatic encephalopathy or brainstem downward thrusting of the centrum semiovale through the tentorium cerebelli tumors, or is a sign of rostral-caudal deterioration in patients with generalized consequent upon raised intracranial brain swelling. The mechanism of its pressure (giving rise to the central occurrence is uncertain.5050 syndrome). 2. Backward protrusion of a herniating intervertebral disk in the midline. central nystagmus A directionchanging nystagmus caused by a lesion of the CNS (as opposed to disease of the eyes or of central electromyography The central midtemporal spikes the labyrinths), usually in the cerebellum or electrodiagnostic study of reflexes and of the (Rolandic or Sylvian spikes) Uniform control of movement by the spinal cord and diphasic or triphasic sharp waves occurring brainstem. Vertical, horizontal, or torsional
central oscillopsia forms occur; they may be uni- or bidirectional and are neither fatigable nor suppressed by fixation. Other signs of CNS dysfunction are commonly present. Any vertigo accompanying it is relatively mild. See direction-changing nystagmus.
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excessive brightness in patients with a homonymous hemianopia, probably in association with a calcarine lesion and interpretable as the visual correlate of paresthesia.1374, 2086 The same symptom may result from digitalis poisoning.
improve the chances of restoring some sight.220
central retinal vein occlusion An acquired disorder causing reduction in vision, swelling of the optic nerve head, dilation of the retinal veins, and central pontine myelinolysis See hemorrhages in the retinal nerve fiber layer. central oscillopsia Subjective The cause is usually not determined, but the osmotic demyelination syndrome. awareness of movement of visual images condition may be associated with resulting from brainstem or temporal lobe central post-stroke pain Unilateral hypertension and other vascular diseases.3363 disorders affecting the central vestibular One cause may be compression of the vein by pain and dysesthesia associated with apparatus. a dilated, atheromatous central retinal artery. impaired sensation involving part or the See also venous stasis retinopathy. whole of the face, not explicable by a lesion of central pain (funicular pain) Deeply felt, the trigeminal nerve. It is attributed to a amorphous, indefinable, and severe pain central scotoma 1. A defect in the arising from lesions (almost all of which are lesion of the quintothalamic field of vision corresponding to that part of (trigeminothalamic) pathway, thalamus, or strokes) completely or mainly confined to the field subtended by the macula, due to a thalamocortical projection. Symptoms may the CNS, with a latent period between injury lesion of the papillomacular fibers. 2. A also involve the trunk and/or limbs of the and onset and invariably associated with defect in the field of vision which is affected or contralateral side. Diagnostic some sensory disturbance.This dynamic surrounded by an intact field. See scotoma. criteria have been defined: process is influenced by the effects of past pain and other experiences and is shown by A. Pain and dysesthesia in one half of the face, associated with loss of sensation to central sensitization Propagation the development of sensitization, wind-up, (and possibly augmentation) of impulses pin-prick, temperature, and/or touch, or expansion of receptive fields of CNS within the central nervous system relating to and fulfilling criteria C and D neurons, by the enhancement of flexion data about a pain stimulus that outlasts the B. One or both of the following: reflexes, and by the persistence of pain or original stimulus; ‘‘an activity-dependent hyperalgesia after inputs from injured tissues 1. History of sudden onset suggesting change in the excitability and synaptic are blocked. a vascular lesion (stroke) strength of neurons in the dorsal horn of the 2. Demonstration by CT or MRI of a Such pain is felt in regions distant from, but spinal cord . . . responsible for the generation vascular lesion in an appropriate site related to, spinal cord or cerebral lesions. of secondary hyperalgesia and allodynia in Diffuse paresthesias, allodynia, and C. Pain and dysesthesias develop within acute and chronic pain states.’’3680 hyperpathia are commonly associated. The 6 months of stroke Such changes are due to the altered mechanisms are unknown. Up- or D. Not explicable by a lesion of the behavior of neurons characterized by downregulation of receptors for adrenergic trigeminal nerve enlarged receptive fields, increased transmitters; sensitization of C nociceptors From the International Classification of spontaneous firing or evoked firing rate, or with low thresholds, capable of prolonged Headache Disorders (Headache firing to novel stimuli which did not discharges after sensitization; abnormal Classification Committee of the previously cause such activation: The hypersensitivity of damaged fibers; the International Headache Society; Cephalalgia phenomenon is thought to underlie the generation of new receptors; alteration in the 2004;24[Suppl 1]) by kind permission of increasing and persisting pain in such central central pattern of impulse conduction; Dr. Jes Olesen, the International Headache syndromes as migraine, in which condition, alterations in inhibitory mechanisms; and Society and Wiley-Blackwell Publications. for example, patients say that touching their activation of secondary polysynaptic pathways, head or combing their hair are painful all are possibilities, but in every case there central razzle Excessive discomfort during (and sometimes after) an attack.2411 appears to be some interruption of the from stimulation by loud sounds due to spino-thalamo-cortical nociceptive cortical lesions and thought to be due to loss central serous retinopathy 3081, 4300, 565 pathways. Both non-NMDA and of a centrifugal inhibitory pathway which (central angiospastic retinopathy) A NMDA glutamate receptor or NK1 substance may function to sharpen images.292 syndrome of unknown cause occurring in P receptor antagonists prevent such central young adult males, characterized by the sensitization. See also thalamic syndrome. central retinal artery occlusion accumulation of serous fluid at one macula, An ophthalmological emergency occurring beneath the retina or the adjacent pigmented central paroxysmal positional epithelium. Clinical features include mainly in the elderly, in which retinal nystagmus A form of positional complaints of metamorphopsia, positive ischemia and infarction cause acute and nystagmus in any direction, lasting 30 s or scotomas, and micropsia. The prognosis for severe visual loss, with attenuation of the so, non-fatiguing, and accompanied by other retinal vessels, retinal pallor, and edema, and recovery is good but in about a quarter of all features of brainstem disease. cases, the condition recurs. a cherry-red spot. The usual causes are an arterial embolism, arteritis, or vasospasm; in central photophobia (central glare, the case of the first of these, massage of the central sleep apnea syndrome A eye and lowering of intraocular pressure may disorder characterized by a cessation or central dazzle) A subjective complaint of
centronuclear myopathies
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Chart C–8. Central Sleep Apnea Syndrome A. The patient has a complaint of either insomnia or excessive sleepiness. Occasionally, the patient may be unaware of clinical features observed by others. B. Frequent episodes of shallow or absent breathing during sleep. C. Associated features include at least one of the following: 1. Gasps, grunts, or choking during sleep; 2. Frequent body movements; 3. Cyanosis during sleep. D. Polysomnographic monitoring demonstrates: 1. Central apneic pauses greater than 10 s (20 s in infancy) in duration, and one or more of the following 2. Frequent arousals from sleep associated with the apneas; 3. Brady-tachycardia; 4. Oxygen desaturation in association with the apneic episodes; with or without 5. A minimal sleep latency test that demonstrates mean sleep latency of less than 10 min. E. Other sleep disorders can be present, for example, periodic limb movement disorder, obstructive sleep apnea syndrome, or central alveolar hypoventilation syndrome.
caudal levels of the brainstem.5053 These include reduction in conscious level and Cheyne–Stokes respirations (diencephalic stage); midposition fixed pupils, loss of oculocephalic reflexes, and central neurogenic hyperventilation (pontine stage); decorticate posturing, ataxic or no respirations, bradycardia, and hypertension (medullary stage); and ultimately death.
centrencephalic myoclonicastatic petit mal See centrencephalic myoclonic-astatic epilepsy.
centrencephalic myoclonicastatic epilepsy (infantile myoclonic
petit mal, centrencephalic myoclonic-astatic petit mal, true myoclonic epilepsy) An older term for forms of myoclonic-astatic epilepsy for which there is no detectable pathological basis. In such cases, there is frequently a central tapetoretinal positive family history of seizures.1693 The degeneration See Behr disease. patient may be mentally normal or retarded, and first exhibits symptoms usually in the central tegmental tract Fibers second to fifth years of life. Myoclonic and which descend from the red nucleus and atonic seizures, absences, petit mal status, elsewhere in the lower diencephalon and tonic seizures, etc., are the usual phenotypes. mesencephalon, running to the ipsilateral See akinetic seizures, juvenile myoclonic olive. It was first described by von Bechterew epilepsy of Janz, and centrencephalic in 1885. Bilateral lesions of the tract appear epilepsy. to induce the phenomenon of palatal myoclonus. centrifugal (Lat, center þ fleeing from) Movement of a phenomenon (such as sensory central vestibular nystagmus See loss in developing peripheral neuropathy) from proximal to distal parts of the body. vestibular nystagmus.
central vestibular vertigo The
centrifugal nerve A motor nerve.
form of vertigo caused by lesions of the centripetal (Lat, center þ seeking) vestibular nuclei or of the Movement of a phenomenon (such as sensory From AASM Diagnostic Classification Steering vestibulocerebellum, and characterized by loss in developing peripheral neuropathy) Committee. The International Classification of change in direction with gaze to either side. from distal to proximal parts of the body. Sleep Disorders Diagnostic and Coding Manual. The nystagmus may be pendular and is Rochester, MN. American Academy of Sleep Disorders, 1991/2001. Reproduced by kind permission usually purely horizontal, vertical, or centripetal nystagmus A form of of the AASM. rotatory. gaze-evoked nystagmus that increases with prolonged eccentric gaze, but may reverse in centrencephalic epilepsy The term direction if the position of the eyes is maintained yet longer. It is most commonly applied to the supposed site of origin of decrease of ventilatory effort during rapid seen in ocular myasthenia gravis3751 or in generalized tonic-clonic seizures, based on eye movement sleep, usually with associated the fact that bilateral epileptic discharges can diseases of the cerebellum. oxygen desaturation and without any See also rebound nystagmus, in which accompanying respiratory effort, as a result be set up in homologous areas of the two again nystagmus in the opposite direction hemispheres following stimulation of of an unusually high apneic threshold. The occurs when the eyes are returned from the subcortical structures such as the condition may occur as a complication of deviated to the primary position. intralaminar thalamic nuclei of experimental numerous CNS lesions, hypoxia, and animals. Penfield in 1938 considered that metabolic diseases but is most commonly one area in the nervous system functions to centrocecal scotoma A scotoma found in healthy people at high altitudes. which involves the area of the visual field Diagnostic criteria have been suggested.1629 integrate the electrical activity of the two subtended by both the macula and the blind hemispheres, probably the rostral brainstem (See Chart C–8.) spot. It reflects pathology affecting the fibers and thalamus, and that this area also See also the Web site: running to the optic nerve head from the constituted the neural substratum of www.sleepeducation.com/Disorders.aspx. macula and from the retina between the consciousness. Abnormal discharges in this region would macula and the optic disk. central syndrome Downward give rise to those seizures which Penfield displacement of the upper brainstem at the labelled centrencephalic. However, it is notable centronuclear myopathies junction with the diencephalon through the that lesions of other parts of the brain may (myotubular myopathies) Sporadic or tentorial opening, leading to an orderly also induce seizures with exactly the same variously inherited congenital myopathies sequence of events which witness the clinical and electrographic characteristics. with occasional onset in childhood or adult functional disturbance of progressively more See absence seizures. life, characterized by the presence of
centro-temporal epilepsy structures resembling fetal myotubes and central nuclei in the extrafusal muscle fibers with predominance and hypotrophy of type I fibers.1966, 5783 The commonest form maps to Xq27–q28, Both autosomal dominant (late) and recessive (early) forms are recorded.3175 Clinically the appearances vary; facial, extraocular, and limb weakness with equinovarus deformity of the feet and, in adults, a syndrome of moderate limbgirdle weakness both having been associated with these biopsy appearances, although a syndrome of nonprogressive myopathy with weakness of the facial and extraocular muscles and hypotonia is a characteristic presentation. Muscle pain and stiffness after exertion, with relief by rest, are other common symptoms. Muscle biopsy shows a high proportion of histochemical type II fibers commonly containing myotubes (with a peripheral ring of myofibrils and a central area in which myofibrillar components and nuclei are present). Type I fiber atrophy and the nonspecific features of myopathy are other common findings.4485, 5992 It is possible that centronuclear myopathies and type I fiber atrophy with central nuclei are forms of the same disease.601 Variant members of the class are X-linked recessive centronuclear (myotubular) myopathy (OMIM 310400) A fatal congenital myopathy presenting with weak fetal movements, fetal distress, respiratory distress in the neonate, proximal myopathic weakness, hypotonia, and atrophy. Tubular aggregates are found in muscle biopsy specimens.5836 The responsible gene maps to Xq28.6508 Centronuclear myopathy with type I fiber atrophy and myotubules A slowly progressive form of centronuclear myopathy with onset in childhood, affecting the muscles of the pelvic girdle and legs, in which the muscle biopsy reveals type I fiber atrophy, central nuclei, and fibers resembling myotubes.601 A form in which type I fiber hypotrophy and fingerprint inclusions are found in muscle biopsy specimens. The clinical syndrome includes slowly progressive muscular weakness and features of Malins syndrome.4717 A dominantly inherited form (12q21) presenting in youth or adult life with proximal muscle wasting, the facial, extraocular, and distal muscles sometimes being involved as well. The condition is slowly progressive and can be compatible with a normal life span. Muscle biopsy shows central nuclei with a clear surrounding zone
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in 60% of the fibers, both types I and II.4249 Different missense mutations affecting the middle domain of the dynamin 2 (DNM2) have been shown to cause at least one autosomal dominant form. In other dominantly or recessively inherited forms presenting in childhood or adult life, variants showing proximal muscle weakness and wasting with sparing of the cranial muscles; calf muscle hypertrophy;637 cardiomyopathy; weakness beginning in adolescence or early adulthood with bilateral ptosis, more distal than proximal weakness and evidence of mild axonal peripheral nerve involvement as well as myopathic changes2068 (DNM2-CNM; mapped to 19p13) have all been reported. The British Web site http:// tonilouise.tripod.com/ is an information point for those suffering from these and other muscle disorders.
centro-temporal epilepsy See benign childhood epilepsy with centrotemporal spikes.
centrum ovale infarcts Stroke from acute infarction in the centrum ovale which receives its blood supply from the superficial (pial) middle cerebral artery (MCA) system through perforating medullary branches which course toward the lateral ventricles.712
centrum semiovale The hemispheric mass of gray and white matter which remains at the top of the brainstem when the cerebrum is removed. It comprises the basal ganglia and internal capsules.
cephalic bellows sound A cranial bruit heard best over the anterior fontanelle of children with hydrocephalus and raised intracranial pressure. It was described first in 1833 by Dr. John Dix Fisher (1797–1850), a physician in Massachussetts,2494 and was thought by him to indicate the presence of cerebral pathology, but it was dismissed by Osler as without pathological significance in 1880.
cephalic index A craniometric sign—the breadth of the head divided by the length and multiplied by 100, the product having no known significance. cephalic tetanus (Rose tetanus, Rose-Villar syndrome) A form of tetanus affecting the facial or oculomotor muscles.
cephalitis An ancient term for inflammation of the brain and its membranes.
cephalocele Herniation of the intracranial contents through a defect in the skull. Such midline cranio-cerebral cystic defects result from failure in the normal development of the neural tube and consist of meningoceles, within which there is no neural tissue, and encephaloceles proper, in which some neural tissue is present.4247 They are classified as primary (occipital, parietal, sincipital, and basal) and secondary (following surgery or trauma or with a craniofacial cleft).1476 Occipital cephaloceles have been reported as a dominantly inherited condition presenting with bulging of the scalp even at birth but without other abnormalities.437
cephalaea An ancient term for a form of cephalohematoma (Gr, head þ headache resembling migraine.
cephalalgia (Gr, the head þ pain) Headache.
Cephalalgia The organ of the
blood þ a mass) A blood clot lying beneath the scalp but outside the cranium, most often seen in infants as a complication of a traumatic delivery.
cephalo-oculo-cutaneous telangiectasia See Louis-Bar
International Headache Society, devoted to syndrome. the topic of headache and related pains. Web cephaloponia (Gr, head þ pain) An site: www.blackwellpublishing.com/ ancient term for a severe or heavy pain in the journals/cha. head.
cephalgia fugax See benign paroxysmal cranial neuralgia.
cephalosyndactyly See Waardenbeng
cephalic (Gr, pertaining to the head)
CERAD The Consortium to Establish a Registry for Alzheimer Disease, a research group formed in the United States to
Sensations in the head such as light-headedness, tingling, or headache.
syndrome.
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standardize examination techniques, facilitate cerebellar and pancreatic cooperative study, and perform annual aplasia See cerebellar ataxia. assessments on a defined population.4499
cerebellar abscess A purulent collection within the cerebellum, usually associated with pyogenic inflammation of the middle ear. Clinically, headache, staging the magnitude of cognitive and vomiting, drowsiness, ataxia of gait and limb functional impairment in normal aging, movements, nystagmus, meningism, and age-associated memory impairment, and primary degenerative dementia, composed of evidence of increased intracranial pressure are the leading features. a battery of tests designed to provide brief and accurate assessment of the presenting cerebellar ataxia (ataxy, Zappert symptoms. The levels of cognitive syndrome, SCA) 1. An inclusive term for all functioning are rated from no cognitive decline to very mild, moderate, moderately the clinical motor manifestations of cerebellar disease, especially incoordination severe, severe, and very severe decline, and for each of these, a full notation of definitions or awkwardness in the performance of a motor task due to disease of the cerebellum is given.4499 or its connections. The term thus begs the question: ‘‘What CERAD test battery A selection of are the signs of cerebellar disease?’’ Although tests designed to provide a brief and accurate an experienced clinician may have no doubt assessment of the presenting manifestations that certain mild abnormalities of voluntary and cognitive changes in patients with movements are due to loss of cerebellar Alzheimer disease or other cognitive coordinating functions, no precise disorders in the elderly. differentiation between these abnormalities Aside from information on demographics, and those caused by, e.g., proprioceptive a drug inventory, and history, physical and disorders or subtle weakness in corticospinal general neurological examinations are lesions is possible, other than by the performed and a diagnostic impression exclusion of such alternatives by recorded. Tests of verbal fluency, the determining that the other signs of such modified Boston Naming Test, the lesions are not to be found. All of the tests to Mini-Mental State Examination, tests of elicit ‘‘cerebellar signs’’ (discoordination, constructional praxis, word lists to recall, dysmetria, dysdiadochokinesis, etc.) may in and word list recognition tests are also fact be abnormal on the basis of frontal lobe, administered.4498 internal capsule, or other pathway lesions. Acquired cerebellar cortical degenerations may be caused by the production of anti-Yo ceramidase deficiency See Farber antibodies cross-reacting against cerebellar disease. Purkinje cells, most often in the context of carcinoma of the lung or ovary. However, ceramide lactoside lipidosis the syndrome has also been associated (ceramidosis) See Farber disease. with carcinoma in other organs and with
CERAD Global Deterioration Scale (GDS) A rating instrument for
malignant melanoma and lymphomas. The symptoms of cerebellar degeneration often precede the diagnosis of the responsible neoplasm. 2. (cerebellar ataxias, spino-cerebellar ataxias) Inherited diseases of the cerebellum or of its connections, presenting with typical signs of cerebellar dysfunction and frequently complicated damage to other parts of the nervous system. These are here distinguished from those conditions which have no known hereditary basis, which are listed here. A comprehensive classification of the multitude of the inherited cerebellar ataxias was that of Harding,2755 who defined five groups, to which the condition of hereditary spastic paraparesis may conveniently be added. Chart C–9 is based upon the classification on Dr. Alan Pestronk’s Web site, http:// neuromuscular.wustl.edu/ataxia/,4992 with many thanks for his kind permission, but is adapted by the addition of syndromes taken from the extensive listing by Baraitser,379 and from Schelhaas,5591Subramony,6116 Hammans,2719 and Dr. Will Garrett (personal communication). In all forms, clinical limb and gait ataxia, nystagmus, and dysarthria are present, to which many variable features are added in those cases not labeled as ‘‘pure’’ cerebellar ataxias. Web sites of interest include: www.ataxiacubana.sld.cu/ataxia_en_ index.htm, relating to a project developed by the Cuban Revolution to carry out research on ataxia and to help those affected. www.fara.org.au/, which summarizes recent progress in ataxia research and treatment from the Friedreich Ataxia Research Association. www.ninds.nih.gov/disorders/ friedreichs_ataxia/detail_friedreichs_ ataxia.htm, a resource guide and fact sheet
Chart C–9a. The Autosomal Dominant (Spino-)Cerebellar Ataxias (SCAs) At least 28 genes have been linked with the dominantly inherited forms. They are due variously to CAG repeat expansions that encode a pure repeat of the amino acid glutamine in the disease protein, producing toxic proteins (SCA 1, 2, 3, 6, 7, and 17), as well as at least three other diseases that are not primarily ataxic syndromes such as Huntington disease, spinobulbar muscular atrophy, and dentatorubropallidoluysian atrophy; to noncoding repeats; or to conventional mutations in specific genes (SCA 5, 13, 14, and 27). The six polyglutamine repeat SCAs are the most common causes of dominantly inherited ataxia. A second category comprises the SCAs that are due to repeat expansions falling outside of the protein-coding region of the respective disease genes. In the following, the chromosome location, the gene/locus and the forms of mutation will be given for each SCA subtype, SCA 1 (6p22.3 ATXN1; CAG repeat) Clinically, gait disturbance and speech problems are the typical onset symptoms, usually in the twenties; ophthalmoplegia, optic atrophy, pyramidal and extrapyramidal signs, peripheral sensorimotor neuropathy, mild dementia, and amyotrophy follow. This is the most frequent single example of the SCAs reported to date. SCA 2 (12q24.13; ATXN2, CAG repeat) Slow saccades, Parkinsonian features, motor neuropathy, and postural tremor. Clinically, it resembles SCA 1 but for the presence of hyporeflexia. Saccades are particularly slow and both myoclonus and cramps are reported. 492 In variant forms, there are added Parkinsonism2654 (Pulst et al., 1996) or retinal degeneration.520 continued
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Chart C–9a. (continued ) SCA 3 (14q32.12; ATXN3, CAG repeat) (Machado–Joseph disease) A syndrome with onset usually in mid-adult life, comprising progressive ataxia and supervening pyramidal signs, dysarthria, and vertical gaze pareses associated with cerebellar and brainstem atrophy with perioral fasciculations. Optic atrophy, chorea, Parkinsonism, dystonic or rigid dystonias, distal weakness and wasting, and retained reflexes are common additional findings; saccade velocities are not reduced. In some kinships the responsible gene maps to 6p24-p23.2755, 5668 (Takiyama et al., 1993; Stevanin et al., 1994b). The condition was first described in detail by Menzel in 1891.4317 See also Joseph disease. SCA 4 (16q24-qter; SCA4) A form with prominent sensory axonal neuropathy and hyporeflexia but without eye movement disorders. SCA 5 (11q13.2; SPTBN2) A slowly developing cerebellar and pyramidal syndrome with onset in the third decade, with global cerebellar atrophy. One variant is cerebellar ataxia with spasmodic cough, a pure late-onset dominantly inherited ataxia with a benign evolution in which attacks of spasmodic coughing precede ataxia for one to three decades. Clinically, it resembles SCAs 5 and 12.14 Another is a pure cerebellar syndrome with downbeat nystagmus and slow progression. SCA 6 (19p13.13; CACNAIA, CAG repeat) This pure cerebellar ataxia resembles SCA 5 but is manifested in older adults and posterior column function is impaired. Life span is normal. Downbeat nystagmus is an added feature but the brainstem is otherwise unaffected. The mutation is allelic with episodic ataxia type II.6050, 2337 The condition is linked to familial hemiplegic migraine both clinically and through shared abnormalities of the CACNA1A P/Q-type calcium channel a1 subunit. SCA 7 (3p14.1 or 3p12-p21.1; ATXN7, CAG repeat) (formerly listed as OPCA II or III) Syndromes resembling SCA 1 with onset usually in childhood, comprising progressive visual failure (due to pigmentary maculopathy), ataxia, seizures, and supervening gaze pareses. Pyramidal signs including hyperreflexia, posterior column sensory loss, and dementia are found. The syndrome is associated with atrophic changes in the cerebellum, basal ganglia, and spinal cord.6694, 2527 This must be the same condition as that formerly called ADCA II: with pigmentary retinal degeneration/progressive macular degeneration. Clinically, the cerebellar syndrome is accompanied by progressive visual loss and evidence of anterior horn cell degeneration. It is mapped to1859 SCA 8 (13q21; KLHL1AS, CTG repeat) A slowly progressive form with cerebellar, pyramidal, and cognitive signs and evidence of sensory neuropathy.3264 It is associated with a large CTG repeat expansion that is not fully penetrant (i.e., not all individuals with the expansion develop disease). SCA 9 Not yet reallocated SCA 10 (22q13.31; ATXN10, ATTCT repeat) A pure cerebellar syndrome with seizures as an added feature, described from Brazil and Mexico.5206, 6593 It is caused by an expansion in an intron of the ATXN10 gene. SCA 11 (15q14-q21.3; SCA11) A relatively benign form with normal life span. SCA 12 (5q32; PPP2R2B, CAG repeat) Characterized clinically by action tremor in the head and arms with onset in the fourth decade of hyperreflexia and mild to moderate cerebellar signs such as ataxia, dysmetria, and dysarthria. Parkinsonism and dementia have been recorded later in life.4735 SCA 13 (19q13.33; KCNC3) A form manifest in childhood with added psychomotor failure. SCA 13 encodes a voltage-gated Kþ channel, mutations of which impair the electrophysiological properties of the multi-subunit Kþ channel, and lead to disease phenotypes with neurodevelopmental and neurodegenerative features. SCA 14 (19q13.42; PRKCG) A form caused by various missense, deletion, and splice site mutations in the PRKCG gene encoding protein kinase C. Most affected patients display a late-onset uncomplicated form of ataxia with occasional mild extrapyramidal features such as dystonia or myoclonus.1127 SCA 15 (3p25.2-pter; ITRP1 I) A pure ataxic syndrome reported in a single Australian family.6080 SCA 16 (3p26.2) Head and hand tremors are reported in adults. SCA 17 (OPCA 5?) (6q27; TBP TBP, CAG repeat) Chorea, seizures, psychiatric manifestations, dementia.5360 Initiation of smooth pursuit eye movements is markedly impaired. SCA 18 (7q22-q32) A form with added sensorimotor neuropathy SCA 19 (*1p21-q21) A form with added myoclonus and cognitive impairment. SCA 20 11 A dominantly inherited form with dentate nucleus calcification producing a low signal on MRI sequences. Dysarthria/spasmodic dysphonia are typically the initial manifestations. Mild pyramidal signs, palatal tremor, and hypermetric saccades are noted in most cases.3497 SCA 21 (7p21.3-p15.1) A slowly progressive form with added Parkinsonism, unresponsive to levadopa.6577 SCA 22 (1p21-q23) Pure ataxia. SCA 23 (20p13-p12.2) A form with added pyramidal signs and sensory neuropathy. SCA 24 (1p36) Genotype and phenotype unclear. SCA 25 (2p21-p1) A form with added severe sensory neuropathy.6049 SCA 26 (19p13.3) Pure ataxia with adult onset.6936 SCA 27 (13q34; FGF14. AD) Characterized by impaired cognitive abilities and slowly progressive ataxia and caused by mutations in fibroblast growth factor 14. SCA 28 (18p11.22-q11.2) A slowly progressive form with juvenile onset and with added ophthalmoplegia, nystagmus, ptosis, and hyperreflexia.974 DRPLA (12p13.31; ATN1 Atrophin 1, CAG repeat) See dentato-rubro-pallido-Luysian atrophy. ADCA III: Unlinked Pure Ataxia Unnumbered variants: Autosomal dominant sensory ataxia A syndrome of gait difficulty associated with diminished sensation in the limbs and with areflexia due to a mutation on the SNAX1 gene.6459 This form closely resembles Biemond ataxia. Branchial myoclonus with spastic paraparesis and ataxia. CAPOS syndrome Episodic Cerebellar ataxia with fever, childhood onset, Areflexia without polyneuropathy, Pes cavus, Optic atrophy, and Sensorineural hearing loss.
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Cerebellar ataxia with mental retardation Cerebellar ataxia, deafness and narcolepsy Cerebellar vermal aplasia Cerebelloparenchymal degeneration A form with adult onset and added dysarthria and dementia. Familial (British or Danish) dementia Familial essential tremor (3q13). Glucose transporter 1 deficiency syndrome (1p35) Hereditary ataxia with thermoanalgesia and loss of fungiform papillae Holmes ataxia is a pure ataxia, but a variant is ataxia with hypogonadotrophic hypergondadism, a recessively inherited syndrome of gait and limb ataxia, with onset in youth or early adult life. The condition is also characterized by pigmentary retinopathy, small penis and testes, pes cavus, dementia, hypotonia, dysarthria, choreoathetosis, distal weakness and wasting, loss of pain and joint position senses, short stature, and mental and developmental delay.2956 Multiple hamartoma syndrome See Cowden disease and Lhermitte–Duclos syndrome. Myelocerebellar disorder A form with added pyramidal signs and a predisposition to leukemia. Prion disease (20p.12) See Gerstmann–Straussler–Scheinker disease and Creutzfeldt–Jakob disease. SCA with chronic cough A pure late-onset form with a benign course. Spasmodic coughing attacks precede ataxia for one to three decades. Clinically, it resembles SCAs 5 and 12.1304 Skeleton–skin–brain syndrome (4p16; FGFR-3) Spinocerebellar ataxia with rigidity and neuropathy A late-onset form with added rigidity, bradykinesia, dysarthria, spasticity, muscle atrophy, and peripheral neuropathy. Syndrome of vertical (downbeat) and horizontal nystagmus. von Hippel–Lindau Syndrome. Undefined forms a. (16q22.1; PLEKHG4) A form with added sensory neuropathy; resembles SCA 4 b. (16q21–q23) In yet other forms, ataxia is accompanied by generalized tonic-clonic epilepsy.2575 Two rare forms of ataxia, one with epilepsy, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, and an infantile onset spinocerebellar ataxia, have been described and found to be caused by defective mitochondrial proteins. Children present with generalized tonic-clonic epilepsy, ataxia, and mental retardation, but have neither myoclonus nor mental deterioration. MRI and muscle biopsy of one patient revealed, respectively, posterior white matter hyperintensities and vacuolization of the sarcotubular system. Episodic ataxias (periodic ataxias, hereditary paroxysmal cerebellar ataxia) are channelopathies, of which many dominantly inherited forms are decribed; EA1 (12p13; KCNA 1) Brief attacks (lasting minutes) in childhood, precipitated by exercise and startle, and complicated by joint contractures and neuromyotonia/myokymia, due to a mutation of the potassium channel gene. EA2 (19p13; 1A Ca2þ [CACNA1A] channel) (many mutations) Paroxysmal attacks in childhood lasting minutes to days, precipitated by stress, exercise, and fatigue with a progressive cerebellar syndrome and permanent gaze-evoked nystagmus. EA3 (1q42) Brief attacks with added vertigo and tinnitus These three forms respond to acetazolamide.2719m1>EA4 (PATX) Adult onset, with added vertigo and diplopia EA5 (2q22; ACNB44) Adult onset, with added seizures and vertigo EA6 (5p13; SLC1A3) Childhood onset; added migraine with prolonged aura. EA7 (19q13) Longer-lasting attacks with onset in youth. Episodic ataxia with paroxysmal choreoathetosis and spasticity (dystonia-9; DYT9) 1p Childhood onset of attacks lasting 24 h. Exclusion criteria include the presence of active unresolvable suspected disease that could be causal, depressive illness, psychotic disorders, dementia, anorexia or bulimia nervosa, alcohol or other substance misuse, and severe obesity.
chronic hepatic encephalopathy evidence of autonomic failure being absent. Both pre- and postganglionic lesions may be and Parkinsonism (acquired [non-Wilsonian] chronic hepatocerebral degeneration) A syndrome of variable dementia, a rather characteristic dysarthria, ataxia, intention tremor, and choreoathetosis which affects the cranial musculature predominantly but also that of the trunk and extremities; a coarse rhythmic tremor of the arms, maximized in certain sustained postures, pyramidal tract signs, and diffuse slowing on the EEG complete the typical clinical picture. Diffuse muscular rigidity, grasp reflexes, tremor at rest, nystagmus, and persistent asterixis are less common signs. Action myoclonus and combined system disease of the spinal cord have been found in isolated instances. The condition may complicate any type of liver disease (postnecrotic, portal, and biliary cirrhosis). All patients have had portalsystemic collaterals or surgically created shunts and have either an elevation of blood ammonia levels or abnormal ammonia tolerance. The major neuropathologic changes consist of a diffuse but patchy cortical laminar or pseudo-laminar necrosis and polymicrocavitation at the corticomedullary junctions and in the striatum. In addition, there is a diffuse increase in the size and number of protoplasmic astrocytes as is so often encountered in other forms of liver failure.
chronic hereditary spinocerebellar degeneration See cerebellar ataxias.
chronic hexosaminidase A and B deficiency See hexosaminidase deficiency.
chronic hyperphosphatemia tarda See hyperostosis corticalis generalisata.
responsible for the anhidrosis, which is not total, but which involves wide areas of the body, not always in contiguous sites. Clinically, the patients manifest heat intolerance, becoming flushed, dizzy, dyspneic, and weak in high ambient temperatures, in which they do not sweat.3930
chronic idiopathic ataxic neuropathy Sensory ataxia due to a chronic, large-fiber pure sensory neuronopathy, the principal lesion being of the dorsal root ganglia in the absence of cancer, nutritional deficiency, pyridoxine abuse, or previous acute infectious polyneuropathy. Sural nerve biopsy reveals severe destruction of myelinated axons. The clinical features include paresthesias, profound disturbance of proprioception and kinesthetic sense, absent muscle stretch reflexes, and normal muscle strength.1411, 5851 The EMG and motor conduction speeds are normal but sensory potentials cannot be recorded. See also chronic inflammatory demyelinating polyradiculoneuropathy and progressive sensory radiculopathy.
chronic idiopathic axonal polyneuropathy A heterogeneous condition of painful or painless sensory or sensorimotor neuropathy typically presenting with gradually progressive neuropathic features that cause mild to moderate disability and reduce the quality of life. Fasting insulin concentrations are significantly raised and familial causes, environmental toxin exposure, and hypertriglyceridemia may have etiological roles. See also chronic inflammatory demyelinating polyradiculoneuropathy.
chronic idiopathic headache See chronic tension-type headache unassociated
chronic Guillain-Barre´ syndrome See chronic inflammatory
chronic idiopathic adhesive with disorder of pericranial muscles. arachnoiditis Smoldering inflammation
demyelinating polyradiculoneuropathy.
of the arachnoid membrane, seldom due to a cause which can be determined (although fungi may occasionally be responsible1481), leading to constriction and ischemia of the cord and the nerve roots at those levels. See adhesive arachnoiditis.
chronic headache attributed to other head and/or neck trauma See post-traumatic headaches.
chronic headache attributed to whiplash injury See post-traumatic headaches.
chronic immune demyelinating polyneuropathy (CIDP) See chronic inflammatory demyelinating polyradiculoneuropathy.
chronic immune sensory chronic idiopathic anhidrosis The polyneuropathy See chronic condition of isolated local failure of sudomotor function in adult life, other
inflammatory demyelinating polyradiculoneuropathy.
chronic immune sensory polyradiculopathy
chronic immune sensory polyradiculopathy A slowly progressive syndrome of gait ataxia, large-fiber sensory loss, paresthesias, and frequent falls but with retained sural sensory nerve action potentials, although SSEPs suggest sensory nerve root involvement. The CSF protein level is usually elevated. The condition appears to be a variant of chronic inflammatory demyelinating polyradiculoneuropathy.5872 See sensory ataxic neuropathy with anti-GD1b antibodies.
chronic infantile spinal muscular atrophy See hereditary motor neuropathy, type II.
chronic inflammatory demyelinating polyradiculoneuropathy (CIDP, relapsing corticosteroid-dependent polyneuritis, steroid-responsive recurrent polyneuropathy, relapsing hypertrophic neuritis, subacute demyelinating proximal and distal polyneuropathy, chronic axon loss polyradiculoneuropathy, chronic idiopathic axonal polyneuropathy, chronic Guillain– Barre´ syndrome) A heterogeneous syndrome of acquired subacute or chronic, symmetrical, slowly progressive, or relapsing polyneuropathies with pathological or electrophysiological evidence of demyelination and inflammatory cell infiltration within nerves, occurring mainly in adult males in the absence of detectable underlying causal disease such as carcinoma and paraproteinemia (CIDP-1). In the presence of such pathologies, the appellation CIDP-2 has been suggested. The neuropathy is usually sensorimotor, but pure motor and pure sensory (chronic sensory demyelinating neuropathy) forms also occur. The interval between onset and nadir of this condition is greater than 4 weeks and the average duration from onset to peak deficit is between three and 15 years. Sensory and autonomic changes are more, and identifiable antecedent events less common than in the acute form. Clinically there is hypo- or areflexia with often asymmetrical distal > proximal weakness; pain, painful paresthesias or numbness, autonomic signs, and clinically evident nerve hypertrophy may be noted. Mild, symmetric facial, or bulbar weakness occasionally occurs. The course is chronic and progressive in most cases, taking up to 2 years to reach
a plateau. About a third of cases have a relapsing course. Two-thirds of patients respond to steroid therapy, most of the remainder to other forms of immunosuppression.4205, 413 Pathologically, the spinal roots and peripheral nerves may show mild inflammation but demyelination and remyelination are more typical. Onion bulbs are seen in the peripheral nerves. The CSF protein is high and myelopathy can occur due to cord compression from the enlarged nerve roots.4353 Electrophysiologic testing reveals conduction block, marked slowing of nerve conduction velocities, temporal dispersion of the CMAP, prolonged distal latencies, and impersistence of F-waves. Serum IgM and IgG autoantibodies against tubulin are characteristic. MRI may show hypertrophy of spinal roots and plexus, especially in cases of long duration. Anti-GM1 ganglioside antibodies are seldom found. In a minority of cases, periventricular, subcortical, and brainstem white matter lesions indistinguishable from those seen in MS are also seen, supporting the existence of a central–peripheral inflammatory demyelinating syndrome.4307, 4569 See also GALOP syndrome, GD1a antibody motor-sensory neuropathy, multifocal motor neuropathy, MAG antibody associated neuropathy, osteosclerotic myeloma, POEMS syndrome, and sulfatide antibody associated neuropathy. Many systemic disorders are associated with CIDP, including those associated with paraproteins, autoimmune disorders, HIV, infection, chronic active hepatitis, and more.4838 Various sets of criteria for the diagnosis413, 20 have been blended by Saperstein et al.5549 and are reproduced here. (See Chart C–19.) Electrodiagnostic criteria for demyelination (from a different source) have also been suggested.
chronic insomnia Prolonged difficulty in sleeping; primary chronic insomnia, chronic pseudo-insomnia, insomnia due to other disease, and forms due to another sleep disorder are distinguished.4904
chronic juvenile amyotrophic lateral sclerosis See hereditary motor system disease and hereditary motor neuropathy, type III.
chronic limb-girdle myasthenia gravis See myasthenia gravis.
200
chronic lymphocytic leukemia A group of malignancies characterized by the proliferation of small, immunologically mature lymphoid cells in the peripheral blood, most of which as B-cell in origin. Neurological complications include herpes zoster and other opportunistic infections, and less commonly direct invasion or hemorrhage in the central nervous system.782
chronic lymphocytic meningitis See chronic benign lymphocytic meningitis.
chronic manganese encephalopathy A syndrome of involuntary movement disorders characterized by widespread cell loss in the caudate and putamen as a result of chronic manganese intoxication.6894
chronic meningitis That form of meningitis in which the clinical and CSF abnormalities persist for longer than 4 weeks.1848 Tuberculosis, brucellosis, and spirochetal infections are the commonest infectious causes; granulomatous diseases and neoplastic meningeal disorders are others.
chronic migraine A complication of migraine in which migraine headaches occur on 15 or more days per month for more than 3 months in the absence of medication overuse. Diagnostic criteria have been defined and adapted.2820, 4783 A. Headache (tension-type and/or migraine) on 15 days per month for at least 3 months. B. Occurring in a patient who has had at least five attacks fulfilling criteria for migraine without aura. C. On 8 days per month for at least 3 months headache has fulfilled C1 and/or C2 below, that is, has fulfilled criteria for pain and associated symptoms of migraine without aura. 1. Has at least two of a–d: (a) unilateral location, (b) pulsating quality, (c) moderate or severe pain intensity, and (d) aggravation by or causing avoidance of routine physical activity (e.g., walking or climbing stairs); and at least one of a or b: (a) nausea and/or vomiting and (b) photophobia and phonophobia. 2. Treated and relieved by triptan(s) or ergot before the expected development of C1 above. D. No medication overuse and not attributed to another causative disorder.
chronic migraine
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Chart C–19. Chronic Inflammatory Demyelinating Polyradiculoneuropathy 1. Clinical Mandatory clinical features Major; symmetric proximal and distal weakness Minor; exclusively distal weakness or sensory loss Hypo- or areflexia [This will usually involve all four limbs] Duration 2 months or more Laboratory features Mandatory: CSF protein >45 mg/dl Supportive: Cell count 5 fibers) or teased fiber studies (>12% of 50 teased fibers, minimum of four internodes each, demonstrating demyelination/remyelination); subperineurial or endoneurial edema; mononuclear cell infiltration; onion bulb formation; and prominent variation in the degree of demyelination between fascicles. Exclusion factors would be vasculitis, neurofilamentous swollen axons, amyloid deposits, or intracytoplasmic inclusions in Schwann cells or macrophages indicating adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy, or other evidence of specific pathology. Clinical exclusions noted in the 1991 AAN ad hoc committee recommendations20 were: 1. Mutilation of hands or feet, retinitis pigmentosa, ichthyosis, appropriate history of drug or toxic exposure known to cause a similar peripheral neuropathy, or family history of a genetically based peripheral neuropathy. 2. Sensory level. 3. Unequivocal sphincter disturbance. (From Saperstein D.S., Katz J.S., Barohn R.J. Clinical spectrum of chronic acquired demyelinating polyneuropathies. Muscle Nerve 2001;24:311–24. Reproduced by kind permission of John Wiley and Sons. Inc.) 2. Physiological studies Neurophysiological Criteria for Diagnosis of CIDP These criteria require documentation of conduction block or temporal dispersion, F-waves, conduction velocity, and/or distal latency abnormalities in at least three nerves: Any one of the following: Conduction block (CB) or temporal dispersion (TD) must be present in at least three different nerves with abnormal conduction values suggestive of demyelination in at least one other nerve including one of the nerves with CB/TD The CB/TD must be present in two different nerves and abnormal conduction values in at least one other nerve. CB/ TD must be present in one nerve and abnormal conduction values in at least two other nerves No CB/TD, but abnormal conduction values must be present in three different nerves. Definitions: Conduction block Amplitude drop of 30% between proximal and distal sites of stimulation except with Erb point.stimulation 50% amplitude drop. Tibial nerve excluded. Temporal dispersion Increase in CMAP duration of >15% after proximal stimulation with regards to distal stimulation. Tibial nerve excluded. Significantly reduced conduction velocity 150% of ULN. Bilateral testing of the median, ulnar, peroneal, and tibial nerves is required. At least 10 consecutive F-waves are to be recorded from each nerve and the minimal latency measured. A simpler set of criteria is as follows:5501 1. Motor conduction velocity (MCV) less than 75% of the lower limit of normal. 2. Distal motor latencies greater than 140% of normal. 3. Conduction block and/or temporal dispersion of the motor unit action potentials. 4. F wave latency increased to greater than 120% of normal. Laboratory studies. Depending on the results of the laboratory tests, those patients meeting the criteria above will be classified into the groups listed below. The following studies are suggested: Complete blood count, erythrocyte sedimentation rate, creatine kinase, antinuclear antibody, CK, ANA, routine biochemical screen, thyroid function tests, serum and urine immunoglobulin studies (to include either immunofixation electrophoresis or immunoelectrophoresis), and HIV and hepatitis serology. The list of laboratory studies is not comprehensive. For instance, in certain clinical circumstances other studies may be indicated, such as phytanic acid, long-chain fatty acids, porphyrins, urine heavy metals, -lipoprotein, -lipoprotein, glucose tolerance test, imaging studies of the CNS, and lymph node or bone marrow biopsy. continued
chronic migrainous neuralgia
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Chart C–19. (continued ) Idiopathic CIDP is said to occur when there is no concurrent disease. The presence of such diseases (depending on laboratory studies or other clinical features) indicates that the patient has an acquired demyelinating polyneuropathy. The conditions so far described include systemic lupus erythematosus, hyperthyroidism, HIV infection,166 monoclonal or biclonal gammopathy (macroglobulinemia, POEMS syndrome, osteosclerotic myeloma, Hodgkin disease, and monoclonal gammopathies of undetermined significance), hereditary motor and sensory neuropathy, chronic active hepatitis, inflammatory bowel disease, Castleman disease, diabetes mellitus, and CNS demyelination. (Adapted from Hughes RAC et al. Randomized controlled trial of intravenous immunoglobulin versus oral prednisolone in chronic inflammatory demyelinating polyneuropathy. Ann Neurol 2001;50:195–2013040 and from Nicholas G, et al. Proposed revised electrophysiological criteria for chronic inflammatory demyelinating polyradiculoneuropathy. Muscle Nerve 2002;25:26–30.4660 2002. Reproduced by kind permission of John Wiley and Sons. Inc.) Variant forms are as follows; anti-MAG antibody syndrome Focal and multifocal neuropathy and CIDP Chronic inflammatory demyelinating polyneuropathy (CIDP) presents in rare instances with numbness, paresthesias, weakness, and pain in focal or multifocal upper limb distribution. The criteria for conduction block are often not met; demyelination is sometimes restricted to proximal nerves and roots, so proximal nerve and nerve root stimulation may be necessary. In a study of proximal root stimulation, only 7 of 31 cases met published demyelinating criteria. Even totally normal conduction studies should not exclude the diagnosis of CIDP.5501 Chronic sensory demyelinating polyneuropathy A variant of CIDP presenting with isolated ataxia, pains, and paresthesias of legs, sometimes followed around 5 years later by motor signs. Both thick- and thin-fiber functions are impaired. In about half the patients the CSG protein levels are modestly raised. At least one motor conduction parameter (MCV, distal, and F-wave latency) suggests demyelination in almost all cases and that conduction blocks and temporal dispersion are present in a third.of the cases. Sensory conduction velocity was in the demyelinating range in 56% of the patients. Needle EMG shows subclinical motor involvement in all patients. In chronic sensory demyelinating polyneuropathy demyelination may also be restricted to sensory nerves or to dorsal root ganglia.5501 This is strikingly similar to a sensory form with distal pansensory loss and pain and normal power or minimal distal weakness, in which electrophysiology shows evidence of motor and sensory demyelination, conduction block, slow NCV, and long distal latency in which the manifestations are more of a sensory than of a motor deficit.4764 A form with onset in childhood (when the disease may be monophasic with remission) and in which associations with diabetes and serum M-proteins are described. In a few cases, a multifocal presentation, perineuritis, sensory manifestations, and arm involvement have been noted. Pathologically there is patchy loss of myelinated axons with some axonal regeneration. An adult form in which the pathology suggests mainly axonal involvement.6445 Miller Fisher syndrome Multifocal neuropathy with persistent conduction block Multifocal demyelinating CIDP (Lewis–Sumner syndrome) A slowly progressive, or relapsing–remitting disorder of adult life presenting with asymmetric, mainly distal weakness in arms > legs. Occasionally, a proximal syndrome involving the phrenic or suprascapular nerves occurs. Sensory loss is mainly distal but is rarely severe or disabling. Electrophysiology shows multifocal conduction blocks and variably slowed nerve conduction velocities with prolonged distal latencies. The CSF protein level is raised but is usually 100 mg/dl). In a few cases, a multifocal presentation, perineuritis, sensory manifestations, and arm involvement have been noted. See also monoclonal gammopathy of uncertain significance, the clinical features of which may be identical with those of CIDP. See also the Web site http://neuromuscular.wustl.edu/ for yet more detailed current information.
See also migraine. More inclusive criteria for chronic migraine and medication overuse headache are included in the appendix of ICHD-2, primarily for further scientific evaluation. It is now recommended that the MOH diagnosis should no longer require improvement after discontinuation of medication overuse but should be assigned to patients if they have a
primary headache and ongoing medication overuse (defined previously as 10 days or more of intake of triptans, ergot alkaloids, mixed analgesics, or opioids, or 15 days or more of analgesics/NSAIDs or the combined use of more than one substance). If these new criteria for CM and MOH prove useful in future testing they will be included in a future version of the ICHD.4784
chronic migrainous neuralgia See chronic cluster headache.
chronic motor axonal neuropathy A diffuse inflammatory motor polyradiculoneuropathy not associated with the presence of antiGM1 antibodies or paraproteinemia.2513 See also
chronic progressive disseminated encephalomyelitis
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chronic inflammatory dysimmune polyneuropathy.
chronic motor tic disorder A syndrome of stereotyped, unifocal, and unvarying motor or vocal tics (not both), occurring for over a year and usually presenting in adult life. The condition probably falls within the spectrum of Tourette syndrome.2443
chronic pain syndromes These are listed variously by name in this book. A taxonomy has been devised by the International Association for the Study of Pain.3069
chronic paroxysmal
production of a syndrome of muscle hemicraniatic syndrome A rare weakness and wasting in children as a result trigeminal-autonomic cephalalgia in which of persisting viral infection.4157 these two syndromes occur together.6984
chronic neurogenic quadriceps amyotrophy A rare focal wasting disease of the thighs, with childhood onset. See Furukawa syndrome2248 and hereditary motor neuropathy (variants).
Chronic Pain Outreach A charitable organization. Web site: www.chronicpain.org/.
chronic polyneuropathy of undetermined cause Sensory, motor,
chronic paroxysmal hemicrania or mixed neuropathies usually with onset in
(Sjaastad syndrome) Attacks with largely the same characteristics of pain and associated symptoms and signs as cluster headache, but shorter lasting, more frequent, and occurring chronic muscle contraction mostly in females and with absolute headache See chronic tension-type effectiveness of indomethacin. This type of head pain almost exactly resembles cluster headache associated with disorder of headache, the notable differences being the pericranial muscles. increased frequency (and reduced duration) of the pains, its predilection for women, chronic myelopathy (progressive myelopathy) An isolated, slowly progressive precipitation often by neck movement, and the near-specific responsiveness to unifocal myelopathy with predominantly indomethacin. motor findings, considered to be due to a This definition and the following single site of involvement by multiple diagnostic criteria are suggested by the sclerosis in cases in whom amyotrophic Headache Classification Committee of the lateral sclerosis, structural lesions, and International Headache Society.2820 (See subacute combined degeneration of the Chart C–20.) cord have been excluded.4937
chronic myopathy The rare
In a variant form, intranuclear and intracytoplasmic aggregates with tubular structures are found on muscle biopsy.1164
chronic polymyositis (acquired inflammatory polyneuropathy, late-life muscular dystrophy, menopausal muscular dystrophy) A very slowly progressive form of idiopathic inflammatory polymyositis occurring in adult life, affecting the arms and legs, often asymmetrically, without pain, muscle swelling, or associated skin changes.
Chart C–20. Chronic Paroxysmal Hemicrania: Diagnostic Criteria A. At least 20 attacks fulfilling B–D B. Severe unilateral orbital, supraorbital, or temporal pain lasting 2–3 min C. Headache is accompanied by at least one of the following: 1. Ipsilateral conjunctival injection and/or lacrimation 2. Ipsilateral nasal congestion and/or rhinorrhea 3. Forehead and facial sweating 4. Ipsilateral eyelid edema 5. Ipsilateral forehead and facial sweating 6. Ipsilateral miosis and/or ptosis D. Attacks have a frequency above five per day for more than half the time, although periods with lower frequency may occur E. Attacks are prevented completely by therapeutic doses of indomethacin F. Not attributed to another disorder Episodic paroxysmal headache attacks occur in periods lasting 7 days to a year, separated by pain-free periods lasting a month or more. Chronic paroxysmal headache attacks occur for more than a year without remission or with remissions lasting less than a month.
mature adult life, symmetrical and present for more than 1 year. They are usually accompanied by mild slowing of motor conduction, an impairment of sensory conduction, and with chronic axonal degeneration shown on sural nerve biopsy. The condition is only slowly progressive; in some two-thirds of patients prolonged follow-up does not yield any clues as to the underlying etiology. The group has been thought to make up some 13% of an unselected series of patients with peripheral neuropathy referred to a neurological center.4253
chronic polyradiculoneuropathy of infancy A fatal syndrome of progressive muscular weakness and wasting with areflexia and elevation of the CSF protein levels occurring in infancy, and characterized pathologically by near-total deficiency of myelin in the cranial and spinal nerve roots.3323
chronic portosystemic encephalopathy See acquired hepatocerebral encephalopathy.
chronic post-craniotomy headache See post-traumatic headaches. chronic post-traumatic headache attributed to moderate or severe head injury See post-traumatic headaches.
chronic post-traumatic headache A headache syndrome without special features that is indistinguishable from chronic tension-type headache and migraine without aura. It is associated with reduced regional cerebral blood flow and hemispheric asymmetries, which supports an organic basis.2657 See also post-traumatic headache.
chronic progressive dementia See Alzheimer disease.
chronic progressive disseminated encephalomyelitis See disseminated vasculomyelinopathy.
chronic progressive encephalitis
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chronic progressive chronic pseudoinsomnia The encephalitis A slow-virus disease of the complaint of insomnia starting in adult life brain possibly associated with preceding infection with the virus of Russian springsummer encephalitis, clinically manifesting as mental, visual, auditory, pyramidal, and cerebellar disorders.
with daytime sleepiness and malaise but without demonstrable abnormality of the duration or structure of sleep on investigation in the sleep laboratory.
chronic psychogenic headache chronic progressive external ophthalmoplegia (CPEO; von Graefe syndrome) Disorders of conjugate gaze, usually without diplopia but with marked ptosis. The syndrome may be accompanied by any of various other clinical features including dementia, mitochondrial myopathy, and encephalopathy (Leigh disease). It is often caused by deletions in mitochondrial DNA and is conveniently classified as an encephalomyeloneuromyopathy, thus ending the tedious disputes of the last 30 years as to whether the disorder is of central or peripheral origin. The syndromes are usually dominantly inherited. Clinically, the ophthalmoplegia (a constant) may be associated with weakness of other muscle groups and/or with evidence of central or peripheral nervous system dysfunction. The course of the disorder with large-scale mitochondrial mtDNA deletions varies from a mild, slowly progressive myopathy to cardiac conduction defects and involvement of the brain, inner ear, or retina.298 See Kearns–Sayre syndrome, mitochondrial diseases, and progressive external ophthalmoplegia.
chronic progressive myelopathy The clinical entity of a
See chronic tension-type headache unassociated with disorder of pericranial muscles.
chronic pulmonary encephalopathy (chronic encephalopathy with pulmonary insufficiency) A progressive degenerative disease of premature infants with severe respiratory distress. Cerebral cortical and brainstem forms are differentiated, each with a fatal prognosis.1847, 4313
chronic relapsing polyneuropathy The term applied to those forms of chronic inflammatory demyelinating polyradiculoneuropathy in which remissions and recurrences occur.
chronic relapsing plexus neuropathy with persistent conduction block See multifocal inflammatory CIDP variant and multifocal inflammatory demyelinating neuropathy.
chronic segmental spinal muscular atrophy of the upper limbs A sporadic or familial disorder characterized by juvenile-onset, uni- or bilateral localization of muscle atrophy to the hands and forearms, and a benign course.2916
Sjo¨gren syndrome, paraproteinemia and idiopathic causes are recognized.3266
chronic sensory ganglionopathy See chronic sensory demyelinating neuropathy.
chronic sensory neuropathy (chronic sensory ganglionopathy) An insidiously progressive large-fiber sensory neuronopathy with ataxia as its most prominent clinical feature.5851 See chronic idiopathic ataxic neuropathy.
chronic sinus headache A dilute form of migraine, beloved of the purveyors of antihistamines, vasoconstrictors, and analgesics, many of which can transform the condition to medication overuse headache. chronic spinal meningitis (radicular myelopathy associated with spinal neuronitis, meningitis circumscripta spinalis) A rapidly progressive radicular myelopathy due to extensive spinal meningitis, often occurring as a first expression of tuberculosis in the nervous system. Syphilis, pyogenic organisms, Cryptococcus, and chemicals may also be causal in a few cases. The condition was first described by Harley in 1909. See spinal arachnoiditis.
chronic spinal muscular atrophy with pallidal degeneration See hereditary motor neuropathy (variants).
chronic subdural hematoma
(pachymeningitis hemorrhagica interna) Subdural hemorrhage present at 2 weeks or chronic sensory ataxic more after head trauma which has displaced neuropathy See chronic sensory the brain in an anterior–posterior direction, demyelinating neuropathy. tearing the veins as they enter the superior longitudinal sinus and leading to blood loss chronic sensory demyelinating into the subdural space, with the eventual neuropathy (chronic sensory formation of a membrane. Clinical signs typically include headache, ganglionopathy) A form of chronic depression of consciousness, and fluctuating inflammatory demyelinating neuropathy chronic progressive focal deficits; increased intracranial pressure with its pathology localized mainly in the radiation myelopathy See radiation dorsal root ganglion cells, characterized by and such transient neurological signs as myelopathy. the subacute or chronic progression of a pure weakness, dysarthria, dysphasia, and visual sensory neuropathy (though with electrical field deficits are also recorded as presenting chronic progressive spinobulbar evidence that the demyelinating process signs. The condition is an important cause of spasticity A syndrome with onset in affects motor as well as sensory fibers), loss of reversible dementia. The latent interval between the trauma and the development of proprioceptive and kinaesthetic sensation, adult life characterized by spasticity, clinical signs may be months or years,6399 so raised CSF protein, and a good response to dysphasia, and XII cranial nerve 381 4764 immunosuppression. abnormalities. that the patient and his family and friends Malignancies, slowly progressive spastic paraparesis (with spastic gait, leg weakness, hyperreflexia, and variable degrees of sensory loss) without evidence of spinal cord compression, disseminated lesions, or disease of the lower motor neurons. Most of these patients are eventually determined to suffer from multiple sclerosis.4937
Churg–Strauss syndrome
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may be unaware of the occurrence of the preceding head trauma.
chronic tension-type headache (chronic daily headache) Headache present for at least 15 days a month during at least 6 months. The headache is usually pressing/ tightening in quality, mild or moderate in severity, bilateral, and does not worsen with routine physical activity. Nausea, photophobia, or phonophobia may occur. This definition and the diagnostic criteria are suggested by the Headache Classification Committee of the International Headache Society. (From Classification of headache disorders, cranial neuralgias and facial pains; and diagnostic criteria for primary headache disorders. Cephalalgia 1988;8[Suppl]:1–96 by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.) (See Chart C–21.) The definition is valid but the diverse manifestations of this heterogeneous form of headache may not always comply.
chronic tension-type headache associated with disorder of pericranial muscles (chronic muscle
chronic tension-type headache unassociated with disorder of pericranial muscles (chronic
chronic whiplash See whiplashassociated disorder.
idiopathic headache, chronic psychogenic headache) An older name, essentially subsumed now under chronic tension-type headache.
chronodispersion The difference
chronic tetanus A rare variant
chronotaraxis A disturbance of
between minimum and maximum latency values in a series of F-waves.
occurring in patients partially immune to tetanus, and producing such symptoms as stiffness and muscle spasms, worsened by volitional movements and startle, and lasting months. Electrodiagnostic studies and muscle biopsy study show evidence of motor neuropathy.5321
temporal orientation, of time interval estimation, or of chronological order of events for symptoms that is peculiar to circumscribed lesions of the anterior ventral and medio-dorsal thalamic nuclei.3598, 5975 It is well described after a thalamic stroke affecting the mediodorsal nucleus.
chronic tetany (sporadic tetany) See idiopathic neuromyotonia.
chronotherapy 1. A form of therapy
chronic tic disorder See Tourette syndrome.
chronic TORCH encephalopathy with myoclonia A variant of chronic congenital TORCH encephalopathies with this added complication.
for sleep disorders in which the times for waking and sleeping are rigidly prescribed. 2. Selective treatment of certain diseases with regard to the patient’s diurnal rhythms. Thus, steroid treatment of multiple sclerosis relapses has been found to be more effective when given at night.2406
Churg–Strauss syndrome
(leucocytoclastic angiitis, allergic granulomatosis, eosinophilic granulomatous vasculitis) An auto-allergic vasculopathy of chronic traumatic edema See unknown cause, affecting small- to mediumreflex sympathetic dystrophy. sized vessels, not certainly defined as a specific entity but characterized as part of the chronic Werdnig–Hoffmann spectrum of polyarteritis nodosa. Adult disease See hereditary motor neuropathy, males are more commonly affected. type II. Clinically, it is characterized by asthma, fever, hypereosinophilia with widespread necrotizing arteritis, erythema multiforme, Chart C–21. Chronic Tension-Type Headache: Diagnostic Criteria allergic rhinitis, and extravascular A. Average headache frequency 15 days/month (180 days/year) for 6 months fulfilling granulomatosis. Neurological features occur criteria B–D, listed below: in about 25% of cases and include deficits of B. At least two of the following pain characteristics: cranial nerves II, III, VII, and VIII, headache, 1. Pressing/tightening quality. hemorrhagic stroke, myositis and 2. Mild or moderate severity (may inhibit, but does not prohibit activities). polyneuropathy or multiple 3. Bilateral location. mononeuropathy,5582, 6087 and other focal 4. No aggravation by walking stairs or similar routine physical activity. deficits such as the Balint syndrome. MR C. Both of the following: imaging reveals diffuse hypointense lesions 1. No vomiting. 2. No more than one of nausea, photophobia, or phonophobia. on T2-weighted images in the frontal D. At least one of the following: meninges and anterior falx cerebri with 1. History and physical and neurological examinations do not suggest one of the disorders diffuse enhancement.6338 See also allergic listed in groups 5–11 (see headache). angiitis and granulomatosis. The typical 2. History and/or physical and/or neurological examinations do suggest such a disorder, but pathology shows angiitis and extravascular it is ruled out by appropriate investigations. granulomas with eosinophilic infiltrates. A 3. Such disorder is present, but tension-type headache does not occur for the first time in prodromal period with rhinitis may last for close temporal relation to the disorder. years, followed then by the development of eosinophilia and later asthma which precedes From the International Classification of Headache Disorders (Headache Classification Committee of the the vasculitis. Peripheral nerve involvement International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the is recognized in 65–75% of the patients. International Headache Society and Wiley-Blackwell Publications. contraction headache) A form of chronic tension-type headache recognized by the IHS. It meets the criteria for chronic tension-type headache but is also associated with tenderness of the pericranial muscles to palpation, or these may show increased EMG activity. The distinction between the two is, at best, fine.
Chvostek, Frantisek
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Chvostek, Frantisek (1835–1884)
described as ‘‘pathognomonic’’ for ciguatera poisoning. Cerebellar dysfunction, hyporeflexia, cranial nerve palsies, and (rarely) respiratory paralysis have also been recorded. Autonomic dysfunction leads to hypotension, bradycardia, dilated pupils, and hypersalivation in severe 1167, 4955, 42, 2484 Chvostek sign Tapping over the facial cases. The differential diagnosis includes nerve anterior to the ear leads to twitching of organophosphate, botulinus, tetrodotoxin, the homolateral facial muscles due to and neurologic shellfish poisoning. See also hyperexcitability of the nerve, as in scombroid, paralytic shellfish poisoning, hypocalcemic tetany. and domoic acid. The related Chvostek phenomenon Austrian physician who trained in Vienna and worked there for all of his life. He published an account of his sign in 1876. His other contributions were in various fields of internal medicine.
consists of hyperexcitability of any of the peripheral nerves to percussion, as in cases of ciliary (from Lat, the eyelid or eyelash) Pertinent to the eyelid. tetanus.1180
chymopapain A proteolytic digestive enzyme used for chemonucleolysis.
cicatrix A gliotic scar in the CNS, often leading to the local origination of epileptic discharges and detectable during life by MRI.
ciliary arteries Anterior and posterior, long and short branches of the ophthalmic artery supplying the external ocular muscles, and the conjunctiva, sclera, ciliary apparatus, and choroid. ciliary body The ciliary muscle and
anterior part of the choroid (corona ciliaris), with specialized functions in secreting the ciguatera A widespread aqueous fluid into the anterior chamber of ichthyosarcotoxaemia with dramatic and the eye. It was known to Herodotus (ca. 290 clinically important neurological features. BC), but the term was applied by Fallopius The clinical syndrome results from the (ca. AD 1550) to the whole of the anterior ingestion of ciguatera toxin, a substance part of the choroid, the more restrictive found in various species of periequatorial reef definition being that of Frederich Henle fish as the result of their ingestion of algae (1809–1885), a German anatomist. containing the toxin that increases the permeability of nerve and muscle ciliary ganglion A ganglion situated membranes to sodium. The condition is most common in Polynesian and Caribbean immediately behind the eye, in which relay parasympathetic fibers destined for the waters. Captain James Cook suffered from this in 1777, probably as a result of eating a ciliary body, and sympathetic fibers with a similar destination pass through without large grouper. The neurotoxin is stored in synapsing. It was described by Anders the viscera of fish that have eaten the Retzius (1796–1860), a Swedish anatomist dinoflagellate and concentrated it upward (ca. 1840).5619 throughout the food chain toward progressively larger species, including ciliary muscles Smooth muscles of the humans. Both Pacific (P-CTX-1) and ciliary body, the circumferential fibers Caribbean (C-CTX-1) ciguatoxins are described in 1858 by Heinrich Mu¨ller potent, heat-stable lipophilic sodium by channel activator toxins which bind to and (1820–1864) and the radial in 1847 5619 William Bowman (1816–1892). maintain open the voltage-sensitive sodium Together they control the aperture of the channel on the cell membranes of all pupil and the degree of curvature of the lens. excitable tissues. The clinical manifestations include oral and peripheral paresthesias, dysesthesias and ciliary neuralgia Intermittent bouts of severe pain in the cheek, temple, and eye. See allodynia, metallic taste, pruritis, nausea, cluster headache and Charlin syndrome. vomiting, malaise, anorexia, burning joint pain, cold reversal, diarrhoea, vomiting, skin itching, cramps, and joint and muscle pains ciliary reflex Touching the eyelashes within 30 min to 2 days after ingestion. causes blinking of the homolateral Temperature perception reversal has been eyelid.6898
ciliospinal center of Budge The site of the cell bodies of the second neuron of the descending sympathetic pathway, situated at the C8–T2 cord levels. Their fibers are pupillo-dilator neurons. ciliospinal reflex Dilation of the pupil homolateral to a painful stimulus such as pinching the neck. The presence of the sign indicates the integrity of the afferent pathway through the cervical nerves and of the efferent sympathetic pathway which traverses the whole of the brainstem.
cilosis (from Lat, an eyelash) Spasmodic trembling of the eyelid. A form of facial myokymia.
cinchona The extract of the bark of the Peruvian Oak, so named after the Countess of Cinchon, wife of the Spanish Governor of Peru, who was cured of a fever (presumably malaria) through its use. The active principle is quinine. cinchonism Quinine toxicity, manifest by headache, tinnitus, tremor, pallor, and jaundice.
cinerea (Lat, ash-colored) Hence tuber cinereum—the ‘‘gray root’’ of the pituitary. cinesialgia (Gr, movement þ pain) An extinct term for painful muscle cramps or muscle pain during contraction. cinetic (from Gr, with reference to motion) Now usually written as kinetic. cingulate (from Lat, a belt or girdle) Encompassing.
cingulate gyrus The four-layered paleocortex representing the cortical expression of the limbic system and sited above the corpus callosum on the medial aspect of the frontal lobes.
cingulate gyrus syndrome See Nielsen syndrome.
cingulate seizures A seizure disorder in which the seizure patterns are complex partial with complex motor gestural automatisms at the onset. Autonomic signs are common, as are changes in mood and affect. (Adapted from Dreifuss, F.E. et al. Commission for Classification and
cisternal puncture
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Terminology, ILAE. Proposal for revised classifications of epilepsies and epileptic syndromes. Epilepsia 1989;30:389–99, by kind permission of the ILAE and Wiley–Blackwell Publications.) These complex partial seizures often end with a temper tantrum. They may be provoked by stress and are often accompanied by frequent absence attacks, autonomic disturbances, and motor signs.4194
cingulosynapsis A form of lobar holoproscencephaly in which the hemispheres are well developed but joined by a band of neocortex over the corpus callosum.3508
circle of Haller The network of blood
circumlocution Discursive wordiness, indirectly providing information rather than defining the objects to be communicated. Charles Dickens’ Mr. Micawber is a welldrawn example, but he did not appear to suffer from that amnesic aphasia which is a circle of Willis The anastomotic ring of typical pathology causing this form of speech arteries (two posterior cerebral, posterior disturbance. communicating, internal carotid and anterior cerebral; one anterior circumscribed cortical atrophy communicating and the basilar) which See Pick disease. encircles the pituitary stalk anterior and inferior to the base of the brain. It was first circumscribed serous spinal depicted in 1647 by Johann Vesling, but Thomas Willis further defined the structures meningitis See arachnoid diverticula. in 1664 and his name is applied to the configuration. circumscript meningitis See subdural empyema. vessels surrounding the optic nerves. Also the attachments of the mitral and tricuspid valves in the heart.
circular nystagmus (diagonal, elliptic, oblique, alternating windmill, circumduction, gyratory, radiary nystagmus) Types of acquired pendular nystagmus in which the fine, fast, vertical, and horizontal circadian rhythm Alternations of oscillations are in opposite directions. In sleeping and waking and of activity, body temperature, and hormonal levels with a cycle circular nystagmus, they have similar amplitudes; in elliptical nystagmus, they are of about a day, paced by a ‘‘clock’’ function different. The resulting ocular movements within the suprachiasmatic nucleus. Two circadian rhythms exist, each with a are as their names suggest. The retinal image and the perceived motion (oscillopsia) are in 25 h length: the sleep-wake/growth the same direction as the eye movement.1561 hormone/urinary electrolytes cycle and the rapid eye movement sleep, cortisol, and body Such disorders are most commonly due to brainstem disease but are sometimes temperature cycle. congenital.
cinonosos (Gr, to move þ disease) An obsolete term for any disease affecting muscular motion.
circadian rhythm sleep disorders Varieties of dyssomnia reflecting disturbance of the timing of sleep rather than its nature. They are classified by the American Academy of Sleep Disorders as follows:1629 1. 2. 3. 4. 5. 6. 7.
Time zone change (jet lag) syndrome Shift work sleep disorder Irregular sleep–wake pattern Delayed sleep phase syndrome Advanced sleep phase syndrome Non-24-h sleep–wake disorder Circadian rhythm sleep disorder not otherwise specified.See also sleep disorders. Useful Web sites are www.mentalhelp.net/poc/ view_index.php?idx¼26/, which describes the general symptoms of circadian rhythm sleep disorder, from Mental Health Net; and that of the Circadian Sleep Disorders Association, www.circadiandisorders.org/, providing information and support to those affected by circadian sleep disorders such as delayed sleep phase syndrome.
cisplatin An anti-neoplastic drug that can cause a length-dependent sensory neuronopathy in a stocking-glove distribution.3558
cirsoid aneurysm of the scalp A congenital syndrome characterized by paroxysmal vascular headaches and the presence of cirsoid aneurysms.381 See also aneurysm.
cisterna chiasmatica The subarachnoid space between the optic chiasm and the rostral end of the corpus callosum.
cisterna interpeduncularis The
circumduction An abnormality of gait wherein the pelvis is elevated on the side of a hemiparesis when the weight is borne on the other leg, in order that the affected leg (longer now as a result of hip and knee extension and ankle plantar flexion) does not scrape upon the ground.
cisterna magna (Lat, large reservoir) The subarachnoid space behind the transverse fissure of the cerebellum.
circumduction nystagmus See
cisternal block syndrome See
circular nystagmus.
circumferential bipolar montage A montage consisting of
subarachnoid space between the crura cerebri (cerebral peduncles).
Zange–Kindler syndrome.
cisternal puncture Insertion of a
needle through the atlanto-occipital membrane into the cisterna magna. This is derivations from pairs of electrodes along done to collect a CSF sample when it cannot circumferential arrays. (From the 1974 be obtained at the usual lumbar site, or to Report of the Committee on Terminology, insert contrast medium above the level of a IFCN. In: Chatrian GE, Bergamini L, spinal block. Precise measurement of the Dondey M, et al. A glossary of terms most depth of the puncture is required, since the commonly used by clinical next structure to be encountered after the electroencephalographers. EEG Clin cistern is the medulla oblongata. Neurophysiol 1974;37:538–48. Reproduced The procedure was introduced by Obregia by kind permission of the IFCN and Elsevier in 1908 and further refined by James B. Ayer Science.) (b. 1882), an American neurologist, in 1920.
cisternography
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cisternography An invasive test
Clarke cells Pigmented cells in the
designed to assess the circulation of the CSF, performed by the injection of a radionuclide such as radio-iodinated albumin into the lumbar subarachnoid space, the passage of this marker indicating CSF flow patterns when the spine and later the head are scanned with a gamma camera at intervals over the following 72 h.
nucleus dorsalis.
Clarke column The dorsal or posterior columns of the spinal cord,1670 described by Clarke in 1851.
clasp-knife rigidity If the examiner
attempts to extend the flexed limb of a patient with a pyramidal lesion, Gowers citrullinemia (Allen–Dent syndrome) A noted that ‘‘When near full extension the spasm [of the extensor muscles] suddenly recessively inherited hyperammonemic comes on and completes the movement, as syndrome of infants due to deficiency of the blade of a pocket knife moves under the argininosuccinate synthetase, an essential influence of a spring.’’2531 Today it is enzyme in the urea cycle. The responsible gene maps to 9q34. Three forms (neonatal/ considered that sudden inhibition of the infantile types I and III and adult type II) are resistive flexor force is a more likely recognized. The genetic defect of the latter is explanation. This is presumably due to the activation of the Golgi tendon organs by the in the ‘‘citrin’’ gene (SLC25A13) and the force of the stretch, leading to the usual clinical manifestations are mainly those of hepatic encephalopathy with raised plasma generation of their impulses inhibiting activity in the reflex arc. levels of citrulline and ammonia.3076 Types I and III are characterized by attacks class hysteria Contagious behavioral of ataxia, vomiting, irritability, seizures, excess. The dancing mania is a relatively involuntary movements, and confusion, benign example of such activity; teen which occur from early childhood, precipitated by dietary protein and fever in behavior at rock concerts is another; and mob violence still another, but more malignant. children who are mentally retarded.4260 High plasma levels of argininosuccinic acid are found.6489 Although the condition may classical torsion dystonia See be lethal due to brain edema, in some cases it dystonia. is actually asymptomatic. A variant is reported from the Orient, in Classics in the History of which the disease presents only in adult life, Psychology A large compilation of with cyclical bizarre behavior patterns and psychology links containing full text versions recurrent coma. Dysarthria, motor weakness, of some of the most important papers in this dementia, and hepatomegaly follow. See also subject and even some complete books from the argininosuccinase deficiency. last 150 years. Web site: www.vanguard.edu/ faculty/ddegelman/amoebaweb.
Clarke, Jacob Augustus Lockhart (1817–1880) English anatomist and neurologist who trained first at Guy’s Hospital in London and later at St. Andrews. After his initial anatomical publications, which started in 1851 when he described the nucleus dorsalis, he was elected a Fellow of the Royal Society (1854) and he received their gold medal 10 years later. Although initially a general practitioner, he was appointed to the staff of the Hospital for Epilepsy and Paralysis in Regent’s Park, London (now the National Hospital, Queen Square), on the basis of his research output. Most of his other papers were on the subjects of diabetes, the muscular atrophies, paraplegias, and tetanus, but he collaborated with Jackson in describing syringomyelia and syringobulbia.
Figure C–4 Henri Charles Jules Claude.
His earliest contributions were studies in pathology, but he later turned to psychiatry and neurology and was concerned with movement disorders, hysteria, peripheral nerve lesions, epilepsy, and the physical treatment of the psychoses in particular.1972
Claude hyperkinesis Painful stimuli applied to paretic muscles excite reflex flexion or extension movements of those muscles; presented as evidence of organic weakness.
Claude syndrome The combination of III and IV cranial nerve palsies with contralateral cerebellar ataxia, rubral tremor, and hemianesthesia, resulting from a paramedian midbrain tegmental lesion involving the red nucleus and the superior classification of neurologic cerebellar peduncle. The etiology is usually a disease ‘‘It is impossible to base a stroke, tumor, or aneurysm.1197 See classification on the pathological evidence cerebellar ataxia with crossed III nerve alone; this is only part of the clinical picture. palsy. Any classification must be based on genealogic, clinical, and pathological Claude topoanesthesia See manifestations’’ (Waggoner, 1938). Verger–De´je`rine syndrome. This excellent advice is not always heeded, and the common phenotypic variability of claudication (from Lat, to halt or be dominantly inherited diseases provides a rich lame) Limping. The word is speculatively mine, ripe for eponymous excavations. considered to have been introduced through the lameness of the Roman Emperor Claudius. Claude, Henri Charles Jules (1869–1945) French neurologist who graduated and then trained further in Paris, claudication of the cord Inability to at one time assistant to Raymond and continue the act of walking due to acutely Bouchard. He was later appointed to the staff progressive weakness of the legs. See lumbar of the Salpeˆtrie`re in Paris. spinal stenosis.
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Clinical Neurophysiology on the Internet
Clauss phenomenon The Toe
clefting A craniofacial malformation in which there is persistence of epithelium between the borders of the facial bony processes which normally fuse during development. Clefts thus occur at the sites of claustrophobia (from Lat, a bolt þ Gr, normal fusion, as between the lateral or medial nasal and the maxillary processes fear) Mental anguish from being enclosed (naso-ocular clefts and cleft lip); between the within a small confining space. palatine processes of the maxillae (cleft claustrum (Lat, a barrier or fence) A thin palate); or between the maxillary and4 mandibular processes (macrostomia). gray matter strip described by Meynert, lying lateral to the lenticular nucleus and clefting with skeletal anomalies beneath the insula. See Crane syndrome. clavus hystericus (Lat, a nail þ clefting-corneal opacityhysterical) Sharp, sudden, stabbing, local head pain, as though a nail were being driven retardation syndrome See Anyane in.2531 Despite the name, there is no Yeboa syndrome. suggestion that this is a psychiatric disorder. See ice pick pains. Clifton Assessment Procedure phenomenon—see Stru¨mpell sign— although it was described independently in 1926 by Clauss.
claw foot (‘‘le pied en griffe’’) The position taken up by the foot with paralysis of its intrinsic muscles. The mechanical effect of unopposed action of the long toe extensors is to cause raising of the arch with shortening of the foot, dorsiflexion of the proximal phalanges, and plantar flexion at the distal joints.
for the Elderly (CAPE) A brief mental status examination assessing orientation, mental abilities, and psychomotor abilities in chronic psychiatric and geriatric patients and able to differentiate dementing from functional disorders. The scale has two parts: the first concerns information/orientation and is scored after interview with the subject, while the second is a behavior rating scale in which activities of daily living are also scored.4935
CDR 4: Profound indicates severe impairment of language or comprehension, with inability to walk unaided, difficulty in feeding, in recognizing family or in controlling bladder or bowel function. CDR 5: Terminal is applied to subjects who require total care and are completely uncommunicative, bedridden, vegetative, and incontinent.
Clinical EEG Electroencephalography (Clin EEG Electroencephalogr) A subspecialty medical journal. Web site: www.ecnsweb.com/ ce_clinicaleeg.htm.
clinical electromyography (electroneuromyography) A term encompassing all electrodiagnostic studies of peripheral nerves and muscles. See also electromyography and nerve conduction studies.
Clinical Neurological Assessment tool A 21-item
instrument assessing various parameters of activity in patients following head trauma. The scale is strengthened by the incorporation of items relating to brainstem function. (See Chart C–22.) The scores claw hand (‘‘le main en griffe’’) The attained on this scale correlate well with position taken up by the hand with paralysis those of the Glasgow Coma Scale. It is of its small intrinsic muscles such as the Clinical Autonomic Research A discussed online at www.baillement.com/ interossei and lumbricals; the long finger journal communicating data on research and index-neuro-crosby.html. flexors produce flexion at the proximal and treatment related to autonomic function and distal interphalangeal joints while extension dysfunction. It is the official journal of the Clinical Neurology and at the metacarpo-phalangeal joints is American Autonomic Society, the Clinical Neurosurgery (Clin Neurol Neurosurg) A maintained by the long extensors. Autonomic Research Society, and the clinical neuroscience journal. Web site: European Federation of Autonomic www.sciencedirect.com/science/journal/ CLEAT syndrome The acronym of Societies. Web site: www.springerlink.com/ 03038467/. Cerebral infarcts, Livedo reticularis, content/108933/. Endocardial lesions, Amaurosis fugax, and Thrombosis, these comprising selected but Clinical Dementia Rating Scale Clinical Neurophysiology (formerly EEG and Clinical Neurophysiology) A characteristic clinical manifestations of the A composite instrument for the assessment professional journal. Web site: antiphospholipid antibody syndrome. of the severity of dementia on the basis of a www.elsevier.nl/inca/publications/store/6/0/ semistructured interview procedure with the 1/5/2/8/index.htt/. Cleckley reflex See Allen reflex. patient and an informed caregiver. Six areas of functioning (memory, judgment and Clinical Neurophysiology A cleft lip-palate and problem solving, orientation, community tetraphocomelia (Appelt–Gerkin– affairs, home/hobbies, and personal care) are Web-based resource describing the basics of the subject. Web site: each rated on a 5-point scale (0 ¼ None; Lenz syndrome) A recessively inherited www.clinicalneurophysiology.org.uk/. syndrome characterized by bilateral cleft lip 0.5 ¼ Questionable; 1 ¼ Mild impairment; and palate, tetraphocomelia with a reduction 2 ¼ Moderate impairment; and 3 ¼ Severe Clinical Neurophysiology on the impairment). Language and praxis are not in the number of digits, proptosis, assessed.3036, 548 Internet A Web site providing data on hyperteleorism, and dwarfism. Hydrocephalus, encephalocele, spina bifida, basic neurophysiology and on the basis of Two additional categories have been and cardiac defects have also been described suggested, to allow a rating of more severely EEG, EMG, and evoked potentials. Web in association.219 See Roberts syndrome. site: www.neurophys.com. impaired people:
Clinical Neurophysiology on the Internet Chart C–22. Clinical Neurological Assessment Tool I. Assessment of patient’s response following verbal stimulation. 1. Response to verbal stimulation. Assessor will say, ‘‘Hello [patient’s nickname or first name]. This is [assessor’s name]. How are you?’’ 1. No response. 2. Minimally aroused/slight movement. 3. Becomes agitated/startles. 4. Opens eyes, lids fluttering and blinking. 5. Orients toward verbal stimulation/ demonstrates signs of recognition. 2. Eye movement in response to verbal stimulation. 1. No response. 2. Slight movement of eyelids/eyes. 3. Opens eyes sluggishly. 4. Opens eyes, lids fluttering and blinking. 5. Opens eyes briskly, purposeful blinking. II. Assessment of patient’s response to tactile stimulation. Firmly grasp left or right arm and shake it. 3. Body response to touch. 1. No response. 2. Startles or becomes agitated/ demonstrates posturing. 3. Slight movement. 4. Movement away from source. 5. Movement toward source. 6. Movement toward source/attempts to grasp assessor. 7. Able to discriminate areas of light touch. 4. Eye movement in response to touch. 1. No response. 2. Slight movement of eyelids. 3. Opens eyes sluggishly. 4. Opens eyes, lids fluttering and blinking. 5. Opens eyes briskly, purposeful blinking. 5. Response to painful stimulation. 1. No response. 2. Startles or becomes agitated/ demonstrates posturing. 3. Sluggish/delayed motor response. 4. Moves away from source of pain. 5. Localizes to pain source. 6. Purposeful avoidance of pain/grimace. 7. Able to discriminate sharp from dull stimulation. III. Assessment of patient’s ability to follow commands. 6. Request patient to follow movement of finger with eyes: ‘‘[Patient’s name], follow my finger.’’ 1. No response. 2. Opens eyes.
3. Follows 308 arc but 1 year without remission periods or with remission periods lasting 50% of record A. Reactivity temporal lobes in the left hemisphere.4332 B. No reactivity Errors are made when naming colors or when the subject is asked to point to a named II Triphasic waves III Burst suppression A. With epileptiform activity color, although color matching and B. Without epileptiform activity interpretation of the ishihara IV Alpha/theta/spindle coma (unreactive) pseudoisochromatic plates are normal. The syndrome is usually associated with a V Epileptiform activity A. Generalized right-sided visual defect and with pure (not in burst suppression pattern) B. Focal or multifocal alexia caused by infarction in the territory of VI Suppression A. 10 mV the left posterior cerebral artery. Two
color desaturation Subjective
coma classification cortical function. The score on the Glasgow Coma Scale will be 2-4-2 or less.
220
comatose In a state of coma.
commissure (Lat, a joining-together)
comb rhythm See mu rhythm.
Those fibers which join the two cerebral hemispheres—the corpus callosum, and the anterior, posterior, habenular, and hippocampal commissures.
coma classification An electroencephalographic classification has been proposed and has been shown to have high intraobserver reliability.6928
combined central and peripheral myelinopathy
A syndrome characterized by the occurrence of both a primary demyelinating Coma Outcome Scale A 5-point polyneuropathy and features of a scale rating the functional outcome from leukodystrophy such as coma, designed to allow comparisons between adrenomyeloneuropathy, metachromatic the results of different treatment plans:3205 leukodystrophy, or Krabbe´ disease.6288 1. No recovery; comatose until death 2. Persistent vegetative state 3. Severe disability; some cognitive function but dependent upon others for daily support 4. Moderate disability; independent in activities of daily life but unable to resume normal function 5. Good recovery; able to lead a normal life or to resume normal activity in the presence of a preexisting disability
(Adapted from Jennett B and Bond MR. Assessment of outcome after severe brain damage. Lancet 1975;1:480. Reproduced by kind permission.)
Coma Recovery Scale A wide-
combined flexion phenomenon See Babin´ski trunk-thigh test.
combined lateral and medial medullary syndrome See Babin´ski–Nageotte syndrome.
combined plantar sign Described as ‘‘the simultaneous disappearance of the cortical and spinal plantar reflex met with in hysteria,’’5333 this sign probably requires further verification before it is generally adopted. combined system diseases
commissure aphasia See conduction aphasia.
commissurotomy Incision of the anterior or posterior commissures, usually performed in an attempt to reduce the frequency of epileptic seizures. common EEG input test A procedure in which the same pair of EEG electrodes is connected to the two input terminals of all the channels of an EEG machine as an adjunct to the calibration procedure. See also calibration. common mode rejection A characteristic of differential amplifiers whereby they provide markedly reduced amplification of common mode signals compared to differential signals. It is expressed as the common mode rejection ratio, that is, the ratio of amplifications of differential and common mode signals. Thus:
Disorders affecting both the lateral and amplification; differential 20; 000 posterior columns of the spinal cord. ¼ amplification Although subacute combined degeneration 1 of the cord is now regarded as the classic 20; 000 : 1 ¼ : example, Friedreich ataxia was once so common mode considered and other hereditary, nutritional, toxic, and other conditions may also be common mode signal The common responsible. component of the two signals applied to the two respective input terminals of a comma-shaped degeneration differential EEG amplifier. In EEG The appearance of the short vertical fibers of recordings, external interference frequently the posterior columns in stained occurs in this manner. preparations of the cord taken from below a coma scales See Glasgow Coma Scale, transection.2531 common peroneal nerve palsy Reaction Level Scale, Innsbruck Coma A mononeuropathy affecting most often the Scale, Glasgow–Liege Scale, Coma deep branch of the nerve at the fibular head commissural myelotomy Sagittal Recovery Scale, and Comprehensive Level as the result of local compression, prolonged incision of the spinal cord made in an of Consciousness Scale. attempt to divide the crossing fibers in the squatting, or direct injury, although more anterior commissure destined for the spino- proximal lesions can occur. Clinically, the coma vigil 1. Originally, a lethargic thalamic tracts, and thus to relieve pain. This usual findings consist of weakness and delirious state described by French wasting of the muscles of the anterior aim has often been achieved, while the physicians in those moribund as a result of absence of permanent alteration in thermal compartment (leading to weakness of ankle typhoid fever. It was Osler who recognized sensitivity remains unexplained.1273 dorsiflexion and eversion, and of toe that it also occurred in typhus. 2. For present dorsiflexion) with altered sensation over the The Bischoff myelotomy is performed to use, see persistent vegetative state. relieve spasticity; it incises the cord laterally lateral aspect of the shin and the dorsum of at a number of levels in order to interrupt the the foot. A Tinel sign is often elicitable at Coma Waiting A Web site offering a fibers of the stretch reflex running from the the site of the nerve lesion. The area of sensory disturbance cannot be glossary of terms used for brain injury, A–Z. dorsal root entry zone to the anterior horn differentiated from that associated with a cell pool. Web site: www.waiting.com/ ranging assessment tool designed to predict the outcome in minimally responsive patients. Six items to do with arousal and attention, five with auditory functions, seven with visual functions, seven with motor functions, two with oromotor functions, six with communication abilities, and two concerned with initiative are rated. The possible scores range between 0 and 35.2354 The scale scores correlate well with those of the Glasgow Coma Scale.
complex IV disease
221
lesion of the L5 root, but lumbar pain or any lower motor neuron signs in the glutei, tensor fascia lata, hamstrings, or tibialis posterior would indicate that it is the root rather than the nerve which is involved.
within the dorsal (extensor) compartment. In the trunk, the rectus abdominis muscle may similarly compress the emerging spinal nerves.769, 5676
completed stroke 1. A stroke syndrome in which the progression of the deficit has stopped (stable stroke). 2. The attainment of maximal impairment such as complete hemiplegia or hemianesthesia, such that the symptoms could not get any worse.4678
compass gait Rotation toward the side affected by a cerebellar lesion, best tested by A reference electrode connected to the input having the patient walk a few steps forward and terminal 2 of several or all EEG amplifiers. backward in an open area with the eyes closed. completion phenomenon A See also star walking. variety of visual illusion in which there occurs common reference montage the psychological ‘‘filling-in’’ of images of Several referential derivations sharing a compelled movements Involuntary which part fall in a hemianopic field; this single reference electrode. See also referential movements arising due to abnormal results in the patient reporting that he can derivation and reference electrode. excitation of some part of the CNS. The term perceive, for example, the whole face of the has been supplanted by dystonia. examiner when only half of it can actually be commotio cerebri Originally, an seen because of the hemianopic defect.2303 intracranial hemorrhagic lesion resulting compensation neurosis Symptoms from a blow to the head, or brain injury in not of organic origin but produced without complex A sequence of two or more the absence of skull fracture as described by conscious intent, determined by an waves having a characteristic form or Ambrose Pare´. Nowadays—see concussion. individual’s quest for financial reward as a recurring with a fairly consistent form and result of injury. Differentiation is made from distinguishable from background activity. communicating hydrocephalus malingering, in which the patient That form of hydrocephalus in which there is consciously fabricates symptoms and signs obstruction to the circulation of CSF for the same purpose. See disability neurosis. complex absence A form of generalized seizure disorder in which between the roof of the fourth ventricle and prolonged absences occur in conjunction the superior sagittal sinus. compensation syndrome See with myoclonic activity or atonic attacks nystagmus-blockage syndrome. in children with preexisting brain damage. compartment syndromes 1. Disorders resulting from an increase in the compensatory nystagmus See interstitial pressure within a closed complex I disease Rare recessively vestibular nystagmus. anatomical space, such as an osseofascial inherited mitochondrial respiratory chain compartment, that leads to microvascular diseases resulting from deficiency of NADH competency A legal term, signifying an coenzyme q-reductase. Typically, they present compromise. 2. Compressive ischemia of individual’s capacity to make rational muscles and nerves lying within a in infancy or early childhood with features medical (and other) decisions that are to be compartment bounded on all sides by resembling Leigh disease, fatal infantile lactic muscle, connective tissues, and/or bone, and respected unless an opposing view is acidosis, cardiomyopathy and lactic acidosis with represented by a better lawyer. occurring when there is pathological or without cataract, macrocephaly and swelling of muscle or with any other cause of leukodystrophy, or hepatopathy with tubulopathy. complementary neuromotor increased interstitial pressure within that See also mitochondrial diseases.3893 examination A system of examination compartment. Excessive pressure within such enclosed regions leads to pain, edema, of neonates and infants in which the active complex II disease A rare participation of the alerted infant is obtained muscle necrosis with myoglobinuria, and through close contact and by suppressing the mitochondrial respiratory chain disease due nerve ischemia, with the expected clinical to deficiency of succinate coenzyme q4534 intrusive Moro reflex, the latter achieved by deficits for each nerve affected. reductase. See also mitochondrial diseases. fixing the infant’s neck so that he reacts as if In the leg, the anterior tibial compartment contains the tibialis anterior muscle, the long possessed of the amount of head control which normally appears only by the age of 3 complex III disease A rare ankle and toe dorsiflexors, and the anterior months. Using this method, an 8-week-old mitochondrial respiratory chain disease tibial nerve (see anterior tibial syndrome); presenting with ptosis and fatigable the peroneal compartment contains the peroneal infant can be brought actively to raise 176 weakness due to deficiency of coenzyme himself up into the sitting position. muscles and the superficial peroneal nerve; q cytochrome c reductase, a respiratory the deep posterior (tibial) compartment contains chain enzyme.2806 Cardiomyopathy, Wolff– the long plantar flexors of the ankle and toes complete ophthalmoplegia Loss and the posterior tibial nerve; and the of all external eye movements, as may occur Parkinson–White syndrome, cerebellar atrophy, and myoglobinuria are also superficial posterior (triceps surae) compartment with Miller–Fisher syndrome or acute described features. See also mitochondrial contains the gastrocnemius-soleus muscles inflammatory demyelinating diseases and septo-optic dysplasia. and the sural nerve. polyneuropathy, midbrain infarction, or In the forearm, the structures anterior to myasthenia gravis; while skull base tumors, the radius and ulna are within the volar botulism, mucormycosis, phenytoin complex IV disease A rare compartment, those posterior to the radius are toxicity, and trauma are less common causes. mitochondrial respiratory chain disease due common reference electrode
complex figures test to deficiency of cytochrome c oxidase. See also mitochondrial diseases.
complex figures test See Rey–Osterreith Test.
complex motor unit action potential A motor unit action potential that is polyphasic or serrated. See preferred terms, polyphasic action potential, or serrated action potential. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.) More than five phases (crossings of the baseline) are required before a motor unit action potential is considered to be polyphasic. The normal proportion of such units recorded is 5 mm; No high- or mixed-density lesion >25 ml. Evacuated mass lesion Nonevacuated mass lesion High- or mixed-density lesion >25 ml; not surgically evacuated. Other trauma severity scores3496 and prognostic scales6243, 3206, 6908, 5196 have also been created. See also coma and coma scales.
craniocervical dystonia That form of dystonia in which the muscles of the head and neck are involved, in the former case producing oro-mandibular dystonias and in the latter, torticollis, retrocollis, etc. The associated headaches consist of a sensation of cramp, tension, or pain in the neck, radiating to the back of the head or to the whole head. Craniocervical Dystonia Questionnaire A validated, diseasespecific questionnaire evaluating the quality of life of patients with cervical dystonia and
cranioscopy
249
profile of the nose, hypoplastic facial bones, high blepharospasm. The English version is reproduced in the paper by Muller et al.,4542 and palate, oligodontia and brachycephaly, ossicle a German version is obtainable from the authors. malformations and a mixed hearing loss, dwarfism, optic atrophy, micrognathia, nystagmus, hydrocephalus, craniosynostosis cranio-cervical malformation A congenital syndrome characterized by the involving multiple sutures, callosal agenesis, 2499 presence of a short neck with combinations and mental and developmental delay. of cerebellar and pyramidal signs. See Chiari See Crouzon syndromes. malformation.
craniofacial malformations
cranio-cleido-dysostosis (craniocleidal dysplasia) A dominantly inherited syndrome, characterized by aplasia or hypoplasia of both clavicles with variability in the size of the attached muscles; facial dysmorphisms with frontal bossing, saddle nose, and delayed ossification of the fontanelles; an abnormally wide cranium with brachycephaly; kyphoscoliosis; lax joints; and occasionally paraparesis or hemiparesis.3424 Syringomyelia, callosal agenesis, spinal dysraphism, and cervical ribs occasionally complicate the primary features. The condition was first described by Pierre Marie.2504
craniometaphyseal dysplasia A dominantly or recessively inherited congenital dysmorphic syndrome characterized also by prominent eyes, thick calvarium, sclerosis of the skull with underdevelopment of sinuses, osteosclerosis or osteopetrosis, and metaphyseal splaying of the long bones, and skull abnormalities leading to headache and cranial nerve palsies (particularly deafness).2504, 5673, 5547 Pyle disease is similar but lacks the orofacial involvement.
Disorders of maturation characterized by abnormalities of body modelling and frequently with associated neurological defects. A classification has been achieved.4 craniopagus twins Infants born joined (See Chart C–27, adapted from Stricker et al. together at the head. Partial forms lack [1990]4 by kind permission.) significant shared dural venous sinuses (SDVS). Total forms with SDVS exhibit more severe compressive brain distortion. A classification Chart C–27. Craniofacial Malformations has been derived in order to assess the chances of success with surgical separation.6075 1. Cerebrocranial dysplasias
(Anencephaly, microcephaly) 2. Cerebrofacial dysplasias Rhinencephalic dysplasias Oculo-orbital dysplasias (anophthalmia) 3. Craniofacial dysplasias a. With clefting cranio-cleidal dysplasia See b. With dysostosis cranio-cleido-dysostosis. c. With synostosis Craniosynostosis cranio-diaphyseal dysplasia A a. Craniofaciosynostosis group of diseases within the spectrum of b. Faciosynostosis craniotubular dysplasias and including at c. With dysostosis and synostosis least the following: Crouzon syndrome 1. A severe recessively inherited bone disorder Acrocephalosyndactyly (Apert syndrome) characterized by massive generalized Cloverleaf skull hyperostosis and sclerosis, especially 4. Craniofacial dysplasias with other origin involving the skull and facial bones, with a. Osseous mental and growth retardation, seizures, b. Cutaneous 2504 visual failure, and deafness. c. Neurocutaneous (neurofibromatosis) 2. A dominantly inherited syndrome d. Neuromuscular (Robin syndrome, manifesting hypertrophy of the membrane Mo¨bius syndrome) bones of the face and skull, leading to severe e. Muscular (glossoschizis) dysmorphism and to II and VIII cranial f. Vascular (haemangioma, nerve palsies. Macpherson delineates a hemolymphangioma, lymphangioma). spectrum running from metaphyseal dysplasia through craniometaphyseal dysplasia and leontiasis ossea to craniodiaphyseal dysplasia and progressive craniofrontonasal dysplasia A congenital dysmorphic syndrome diaphyseal dysplasia.4009
characterized also by strabismus, syndactyly, broad hallux, sandal gap between the toes, and craniodigital syndrome The coexistence of mental and growth retardation, craniosynostosis with brachycephaly and 4 unusual facies, syndactyly, mild brachycephaly, hypertelorism. and abnormal palmar dermatoglyphics. See also craniohypophysial Saethre–Chotzen syndrome.5686 xanthomatosis See generalized craniofacial dysostosis A congenital xanthomatosis and Hand–Schu¨ller– Christian disease. dominantly inherited dysmorphic syndrome characterized by prominent frontal bossing, absent auditory canals, hypertelorism, craniology The study of the comparative prominent eyes, strabismus, parrot-beaked sizes and proportions of skulls.
craniopathy Disease of the cranium. craniopharyngioma Cystic or solid, benign, multiloculated tumors arising from the embryonic pouch of Rathke above the sella turcica, composed of sheets of squamous cells with calcification, keratin pearls, and granulomas, and containing glairy ‘‘machine-oil’’ fluid full of cholesterol crystals. They are prone to recurrence after removal.6 The tumor arises from embryonic squamous cell rests in the site of the obliterated cranio-pharyngeal duct. Clinically, craniopharyngiomas present most often in childhood with growth failure or complaints of headache and other evidence of raised intracranial pressure, chiasmal compression, hypopituitarism or alterations in mental status; in adults, sexual dysfunction, visual deficits, and a syndrome of progressive dementia are the usual symptoms. See also suprasellar cysts.
cranioschisis A severe and potentially lethal developmental defect due to failure of the cranial portion of the neural tube to close. In its most severe form (cranioschisis aperta with encephaloschisis, anencephaly) there is an absence of the cranial vault and of the cerebral cortex, the basal ganglia forming the most cephalad portion of the nervous system. In cranioschisis occulta with encephalocele, the brain herniates through a relatively small defect in the skull.4078
cranioscopy Franz Gall’s preferred name for phrenology.
craniostenosis
250
Craniosynostosis with foot anomalies6705 Fairbank syndrome craniosynostosis (craniostenosis) The Gorlin–Chaudhry–Moss syndrome A syndrome consisting of dysmorphism with craniosyresult of premature fusion of one or more nostosis, facial dysostosis, translucent teeth, cranial sutures in infancy, leading to a congenital cardiac defects, and defective reduction in the volume of the cranium and to upper eyelids.2499 diffuse encephalopathies as a consequence of Herrmann–Pallister–Opitz syndrome the pressure on the brain.1234 See Chart C–28. (craniosynostosis, brachysyndactyly of The sagittal suture is affected most often, while hands, and absence of toes, Herrmann syndrome 1) A sporadic congenital the lambdoid, metopic, or coronal sutures less malformation syndrome characterized by commonly. Characteristic deformities of the facial dysmorphisms including cleft lip or skull (turricephaly, brachycephaly, palate, craniosynostosis affecting the coronal oxycephaly, pachycephaly) result and may suture, hypertelorism, brachysyndactyly of require early surgical correction, either for the hands, and absence of some toes. Mental cosmetic reasons or because of increased retardation and growth failure are also intracranial pressure. The forms of present.2878 craniosynostosis were first classified by Lowry syndrome
craniostenosis See craniosynostosis.
Virchow in 1851; he also coined this term and 1. Premature fusion of the coronal sutures brachycephaly, dolichocephaly, scaphocephaly, with cryptorchidism.3939 and macro- and microcephaly. A newer 2. Craniosynostosis and fibular aplasia classification is that of Jacobson.3138 The (Lowry syndrome) A recessively inherited condition is not new, having been recorded in congenital syndrome characterized by the time of the Egyptian Pharaohs.5932 these two features.3939 See the syndromes of Apert, Berant, Sensenbrenner syndrome A rare syndrome Crouzon, Christian, Carpenter, Pfeiffer, and manifesting premature fusion of cranial Saethre–Chotzen, and the kleeblattschadel sutures with dolichocephaly, fine hair, anomaly as well as the following variants impaired tooth formation, and listed in Chart C–28. See also Adelaide and brachydactyly.3806 Summitt syndrome A syndrome consisting of Boston craniosynostosis, Jackson-Weiss craniosynostosis, obesity, strabismus, and syndrome, Greig syndrome, and syndactyly.6128 thanatophoric dysplasia. Chart C– 28. Variant Forms of Craniosynostosis Armendares syndrome245 Baller–Gerold syndrome (craniosynostosis
and radial aplasia) A recessively inherited congenital syndrome characterized by craniosynostosis and radial aplasia.351 Berant syndrome539 Christian syndrome Complicated acrocephalopolysyndactyly (Sakati–Nyhan–Tisdale syndrome) A rare syndrome manifesting polydactyly, premature fusion of all cranial sutures with acrocephaly, giantism, and dysmorphism.5507 Craniosynostosis, arthrogryposis, and cleft palate syndrome (Christian–Andrews–Conneally– Muller syndrome) A recessively inherited congenital syndrome characterized by craniosynostosis, microcephaly, hypertelorism, antimongoloid slant of the eyes, ophthalmoplegia, and facial dysmorphisms.1170 Craniosynostosis, brachydactyly, symphalangism, strabismus, hip osteochondritis, and carpotarsal fusion A rare, probably dominantly inherited syndrome manifesting these features.6524 Craniosynostosis with 7p-karyotype2504
Woon syndrome The congenital combination of craniosynostosis and absence of the thumbs.
craniosynostosis and fibular aplasia (Lowry syndrome) A recessively inherited congenital syndrome characterized by synostosis and bilateral fibular aplasia.3939
craniosynostosis and radial aplasia (Baller–Gerold syndrome) A recessively inherited congenital syndrome characterized by these two features:351
in parasagittal, parietal, and vertical regions, considered to be caused by prolonged compression of the skull in utero. The condition is common, harmless, and temporary.
craniotelencephalic dysplasia A congenital dysmorphic syndrome characterized also by prominent frontal bossing, microphthalmia, hypoplasia of the optic nerves, trigonocephaly, craniosynostosis, encephalocele, hydrocephalus from aqueduct stenosis, lissencephaly, cerebellar atrophy, agenesis of the corpus callosum, and mental and developmental delay.381
craniotubular dysplasias Genetic hyperostotic and osteosclerotic disorders stemming from a defect in bone modeling4045, 2501 with secondary effects upon the nervous system.
craniotubular hyperostoses Genetic hyperostotic and osteosclerotic disorders stemming from an active overgrowth of bone, and including Camurati–Engelmann disease.4045
craniovertebral anomalies (craniovertebral malformations) Congenitally determined abnormalities of the skull base and upper cervical spine. These include basilar impression, platybasia, occipitalization of the atlas, fusion of cervical vertebrae, and chronic atlantoaxial dislocation. They are common in patients with syringomyelia and cerebellar ectopias but, in other instances, may be asymptomatic or associated with postural loss in the arms, mirror movements, and vertical nystagmus with oscillopsia.372
craniovertebral malformations See craniovertebral anomalies.
cranium The membrane bones of the craniosynostosis, severe skull; all the skull bones above the skull base. symmetrically deformed extremities, and cleft lip-palate cranium bifidum A failure of fusion of syndrome See Chart C–28. the posterior midline portion of the skull, so craniosynostosis with foot anomalies See Chart C–28. craniosynostosis with 7p-karyotype See Chart C–28. craniotabes (congenital cranial
that a bony cleft remains through which the brain may extrude (encephalocele).
crash migraine See thunderclap headache and reversible cerebral vasoconstriction syndrome.
creatine A muscle protein isolated in osteoporosis) Softening of the infantile skull 1832 by Michel Chevreuil, a French chemist.
Creutzfeldt–Jakob disease
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creatine kinase (CK) An enzyme
catalyzing the reversible reaction: ATP þ creatine ¼ ADP þ phosphocreatine, and thus responsible for energy production within muscle. Elevation of its levels in serum (M form) is a reliable indicator of damage to muscle membranes resulting from any cause.4982
creatine transporter deficiency An inborn air of metabolism caused by a defect in the X-linked creatine transporter gene mapped to Xq28. Affected males have expressive speech and language delay and mental retardation, seizures, developmental delay, and autistic behavior. Half of the female carriers also have learning disabilities.5514
Cree encephalitis A familial disease, possibly a viral infection, manifesting with severe mental retardation from birth, microcephaly, cerebral atrophy with white matter changes of panencephalitis with calcifications, and systemic immunological abnormalities (polyclonal hypergammaglobulinemia) leading to recurrent infections.667
This superficial reflex is centered on L2 and may be lost in pyramidal tract lesions above that level, as shown by Romberg in 1853, as well as with scrotal pathology.
crescendo TIAs Repetitive ischemic attacks, most often due to hemodynamic phenomena in diseased small penetrating vessels. When cerebral infarction develops, it is usually lacunar and involves a single penetrating vessel, although restricted to the region of the internal capsule. The clinical manifestations usually affect the face, arm, and leg.1687 See also capsular warning syndrome. cretinism Retardation in physical and mental development due to dysgenesis or inability to synthesize thyroid hormone in utero or in early life.
Creutzfeldt, Hans-Gerhardt
(1885–1964) German neuropsychiatrist. He studied medicine at Jena, Rostock, and Kiel and then served as a ship’s surgeon. On returning to Germany, he studied psychiatry in Kiel but spent years in practice in Munich and Berlin before returning to Kiel as professor of psychiatry and neurology in 1938. In 19201319 he described one case of the disease bearing his name while working with Cree leukoencephalopathy A Spielmeyer in Munich. His patient, a 23rapidly fatal syndrome of neonate Cree year-old woman, manifested tics, Indian children described in Quebec, and myoclonus, focal seizures, and pyramidal characterized by seizures, pyramidal signs, tract signs progressively over 1 year; this and mental and developmental delay patient had two siblings who were mentally associated with abnormal CNS retarded and the reliability of the diagnosis is 666 myelination. The brain pathology is open to question, unlike the three patients of similar to that of central hypomyelination/ Jakob described in the following year, whose vanishing white matter syndrome. features are more in keeping with current concepts of the disease. Cree microcephaly with Creutzfeldt also published on the micromelia A congenital dysmorphic psychoses, multiple sclerosis, encephalitis, syndrome characterized by low birth weight, toxic diseases, and radioactive studies in mesomelia of upper limbs, synostosis of the CNS disease.3717 elbows, hypoplastic or absent radii and ulnae, absent fingers, and microcephaly.3109 Creutzfeldt–Jakob disease (Jakob–Creutzfeldt disease, spastic creeping palsy See amyotrophic lateral pseudosclerosis, cortico-pallido-spinal sclerosis. degeneration, Heidenhain syndrome, subacute cerebral degeneration, human BSE, cremasteric reflex Contraction of the polio-encephalomyelopathy, subacute spongiform encephalopathy, subacute cremaster muscle with elevation of the homolateral testicle, in response to a scratch presenile polio-encephalopathy, subacute presenile spongy atrophy, subacute on the inside of the thigh ascending from around 3 inches (7.5 cm) below the inguinal degenerative polioencephalopathy of the crease and resulting from contraction of the presenium) A rare, progressive, and fatal spongiform encephalopathy due to infection dartos muscles in the overlying skin. This may be absent in a normal man but unilateral by a virus particle (prion).5127 absence suggests a homolateral pyramidal The American Psychiatric Association lesion since it is a cutaneous reflex. (in DSM-IV TR)172 suggested that the
condition should be suspected in all cases of dementia that progress fairly rapidly over months to 1–2 years and that are accompanied or followed by multiple neurological symptoms, and that the triad of rapidly progressing, devastating dementia; pyramidal and extrapyramidal disease with myoclonus; and with a characteristic (triphasic wave) EEG is highly suggestive. There usually is a progressive spastic paralysis of the limbs, accompanied by extrapyramidal signs with tremor, rigidity, and choreoathetoid movements. Numerous phenotypes are described, varying with the size of the causal virus particle. In some cases, such as the ‘‘amyotrophic’’ form, the neurological signs may precede the onset of the dementia. Ataxia, visual failure, muscle twitches, and upper motor neuron signs are also described, as are intrusion errors, perseveration, and periods of unresponsiveness even amounting to akinetic mutism.5933 Criteria for the diagnosis have been suggested.4159 (See Chart C–29.) In the CSF, the presence of 14-3-3 protein (a cell surface signaling protein) is a sensitive but not a specific marker for CJD; any neurological injury such as an infarct, tumor, or infection can give a false positive result. The inclusion of this CSF protein in the criteria of Masters and colleagues (1979) improves the accuracy of clinical diagnosis. The presence of 14-3-3 protein in the CSF discriminates better between CJD and other rapidly progressive dementias than does the EEG pattern or the MRI. In variant presentations, patients present with focal cortical deficits such as aphasia or visual disturbances.5933 Modified criteria, varying somewhat from those of Brandel and of Lanska810 have also been suggested, as follows: Progressive dementia over 10 mg/24 h, and not due to psychiatric disturbance, laxative abuse, or other bowel disease. 6. Symptomatic light-headedness or fainting due to orthostatic hypotension (>30 mmHg systolic) with concomitant blood pressure drop, present continuously (light-headedness or fainting weekly) for at least 6 weeks. From Dyck PJ. Detection, Characteristics and staging of polyneuropathy: assessed in diabetics. Muscle Nerve 1988; 11: 21–32. Copyright 1988. All rights reserved. Reprinted by kind permission of Wiley-Blackwell Publications.
and raised CSF protein levels in many of his patients and concluded that the disease process lay in the spinal cord,2290 (‘‘diabetic myelopathy’’), a view no longer held. The condition is considered to be a variety of diabetic motor neuropathy with a dysimmune vascular or axonopathic etiology5503 and the extensor plantar responses are ignored, denied, or ascribed to a vascular lesion at a higher level. See also diabetic neuropathies and nondiabetic lumbosacral radiculoplexus neuropathy (in which latter case the clinical features are remarkably similar).
diabetic thoracic polyradiculopathy See diabetic radiculoplexus neuropathy.
dysesthesia, sometimes with weakness of the abdominal muscles.6056, 3463 The condition is associated frequently with marked weight loss but carries a good prognosis for recovery.
diabetic truncal neuropathy (thoraco-abdominal neuropathy, diabetic thoracic radiculopathy or polyradiculopathy, truncal mononeuropathy) A common form of diabetic peripheral neuropathy affecting the truncal nerves at various sites and usually causing severe abdominal or chest pain, not always radicular in character, as well as
Diagnostic Classification of Sleep and Arousal Disorders A compilation of such disorders first prepared by the American Sleep Disorders Association4022 but now superseded. See sleep disorders.
diagnostic dyspraxia
diagnostic dyspraxia Intermanual conflict occurring as an alien hand sign.
diagnostic interview schedule A complex interview-based, observer-rated measure of depression designed to establish the full range of the American Psychiatric Association DSM-III depressive disorders.5335
diagonal nystagmus See circular nystagmus.
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resolving within 72 h of each hemodialysis session.2820
diamond on quadriceps An asymmetric diamond-shaped mass in the middle of the quadriceps muscle, this muscle being wasted both above and below. It is seen when the subject stands with the knee slightly bent and is a marker for dysferlinopathies such as limb-girdle muscular dystrophy 2B and Myoshi myopathy.
diagonal paresis Weakness of one arm diaphragm reflex of Hess The and of the opposite leg as a result of a lesion of the highest levels of the spinal cord damaging the corticospinal tract fibers supplying the arm (which at this level have crossed) and those supplying the contralateral leg (which cross one or two segments below).
dialysis cramp Painful calf cramps occurring in patients during hemodialysis, probably due to temporary hyponatremia.3724
abdominal muscle reflex, obtained by tapping the nipple.
diaphragmatic aplasia A recessive or X-linked syndrome of uni- or bilateral diaphragmatic aplasia. The various specific syndromes are described by Dr. Alan Pestronk at his Web site: http:// neuromuscular.wustl.edu/ syncm.html#blepharophimosis.
diaphragmatic flutter (moving
umbilicus syndrome, diaphragmatic tic, tremor, or chorea) Clonic contractions of the dialysis dementia See dialysis diaphragm occurring at high frequency and encephalopathy. without any associated inspiratory sound. The syndrome is uncommon, occurs at any dialysis dysequilibrium age, and is due either to phrenic denervation syndrome An acute delirious state or irritation of the diaphragm itself. Patients lasting days to weeks, with headache, nausea, may complain of respiratory distress, musclecramps and occasionally seizures, and muscular fatigue, or pain in the abdominal due to cellular overhydration as a response to wall or precordium, or palpitations of the the rapid lowering of blood urea by chest. Presentations with recalcitrant dialysis.5395 asthma, inspiratory stridor, or difficulty in weaning from mechanical ventilation have been recorded. dialysis encephalopathy (dialysis The condition may represent a variant of the dementia) A subacutely progressive palatal myoclonus syndrome. The diaphragm syndrome lasting 3–15 months in subjects contraction is at the rate 0.5–8.0 Hz but a highon hemodialysis for over a year, and frequency variant (9–15 Hz) has been reported, characterized by increasing dementia, a with symptoms of hiccups, belching, and dysphasic language disorder often accompanied by hesitant, stuttering speech, retching. Most cases are primary or idiopathic, and distinctive EEG patterns with FIRDA. although postencephalitic, postviral, and tardive forms have been reported.5085 See also Myoclonic and generalized seizures, belly dancers’ dyskinesia.3078 behavioral disturbances, and confusional states are less reliable (though common) components of the syndrome.1158 diaphyseal dysplasia See The condition is considered to be due to Camurati–Engelman syndrome. toxicity from aluminum in the dialysate. Appropriate corrective steps having been diaschisis (Gr, division or splitting) taken, it is now vanishingly rare. A sudden abeyance or reduction of motor function following the interruption at a remote dialysis headache Forms of headache site of an afferent pathway which normally supplied background excitation to the neurons experienced by patients on hemodialysis,
in question, keeping them in a state of low activity. "Shock" of the nervous system.1984 The concept was introduced first by von Monakow, who described diaschisis corticospinalis (progression of functional depression of the spinal cord following an injury to the motor cortex); diaschisis commissuralis (functional depression of the contralateral cerebral cortex after injury to the cortex of one hemisphere); and diaschisis associativa (depression of function in intact cortical areas adjacent to the site of a cortical injury). The term now includes the following varieties:4658 Cortico-cerebellar diaschisis (crossed cerebralcerebellar diaschisis, cortico-cerebellar diaschisis, transtentorial diaschisis) Reduction of metabolic activity of the cerebellar hemisphere contralateral to the side of a supratentorial ischemic infarct. Clinical signs of this are few. Crossed hemispheric diaschisis (cerebellocortical diaschisis, crossed cerebello-cortical diaschisis) Hypoperfusion in the contralateral cerebral hemisphere after unilateral cerebellar infarction. Transhemispheric diaschisis Bilateral reduction of perfusion in subjects following a unilateral hemispheric infarct and dependent on continuing function of the corpus callosum. Cortico-thalamic diaschisis Diminished metabolism and perfusion in the thalamus after an infarct or other lesion has interrupted thalamo-cortical projection pathways. Thalamo-cortical diaschisis A reversal of the last, in which there is a reduction in metabolism of the homolateral hemisphere after subcortical/thalamic stroke. Basal ganglion-cortical diaschisis Hypometabolism in focal or diffuse cortical regions (usually frontal) in the presence of lesions of the lenticular nucleus, globus pallidus, caudate, etc.
diastaltic (Gr, exciting) The term used by Marshall Hall for what is now called ‘‘reflex’’; today it is seldom employed. diastasis Separation of the cranial sutures, as may occur in children with cranial trauma, meningeal tumors, or elevated intracranial pressure.
diastematencephalacia (from Gr, to separate þ the brain) A congenital maldevelopment in which the brain is divided into two by a midline cleft. diastematomyelia (Gr, to separate þ the spinal cord) (split notochord syndrome)
diffuse cerebellar cortical hypertrophy
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A congenital maldevelopment in which there is splitting of the spinal cord into two duraenclosed tracts by a midline bony or cartilaginous spicule, usually extending over several segments in the thoracic or lumbar regions, and sometimes associated with spina bifida. Although the condition is often asymptomatic in youth, symptoms such as gait disturbance, back pain, and motor or sensory disturbances in the legs arise when the greater growth of the vertebrae compared with that of the cord leads to traction on the cord and subsequently to myelopathy.529
ventricle and especially of the medial-dorsal thalamic nucleus.4219, 2543
diencephalic autonomic seizures (dysautonomia, autonomic
dysfunction syndrome, autonomic storm, brainstem attack, hyperpyrexia associated with muscle contraction, hypothalamicmidbrain dysregulation syndrome, acute midbrain syndrome, Penfield syndrome, autonomic diencephalic epilepsy, tetanuslike seizures, cerebellar or tonic seizures, or minor epilepsy) An unusual variety of ‘‘seizure’’ in which major autonomic diathesis (Gr, an arrangement) 1. A (sympathetic) manifestations occur due to transmissible variation in the structure or hypothalamic lesions, such as tumors or function of tissues, rendering them associated with severe diffuse axonal injury peculiarly liable to react in a certain way to and cerebral hypoxia following certain extrinsic stimuli. (R.J. Ryle, 1926) craniocerebral trauma. Manifestations 2. A morbid tendency or susceptibility to a include transient increases in blood pressure certain type of disease. and speeding or slowing of respiration Yet this is still a vague term, now nearly including the Cheyne–Stokes pattern, defunct, although the underlying concept is lacrimation, sweating, shivering, pupillary real enough. changes, vasodilatation, lacrimation, salivation, piloerection, tachycardia, hyperdicephalus A two-headed monster. or hypothermia, posturing, exophthalmos, and hiccuping. dichotic listening A procedure used to Penfield’s case4975 was of a woman who investigate selective auditory attention in died with an encapsulated tumor which was which two different auditory stimuli compressing the thalamus; her attacks were (usually speech) are presented to the considered to represent epileptic discharges, participant simultaneously, one to each ear but it seems more likely that they are due to using headphones. Participants are asked to a release phenomenon at the level of the attend to one or (in a divided-attention upper brainstem935 perhaps witnessing to experiment) to both of the messages and are the effects of plateau waves in patients with later asked about their content. acute intermittent hydrocephalus. See also de Morsier syndrome. dichotic stimulation A psychometric localization test using auditory stimulation, whereby different sounds (e.g., numbers) are diencephalic neuronal necrosis Neuronal injury limited to the thalamus, presented simultaneously to the two ears. hypothalamus, and brainstem following hypoxic–ischemic injury in utero.4900 Dide–Botcazo syndrome A syndrome of the posterior cerebral artery in which bilateral calcarine and posterior diencephalic syndrome (Batten– temporal infarcts are associated with loss of Russell–Collier disease) Emaciation and immediate memory, retrograde amnesia, failure to thrive with full alertness but spatial agnosia, and temporal showing minimal neurological signs, disorientation.1637, 1636 occurring in infants or small children in association with a tumor of the diencephalon (usually an anterior hypothalamic glioma). DIDMOAD See Wolfram syndrome. Alertness and increased vigor and appetite with friendliness (or even elation in the early diencephalic amnesia Deficits in anterograde visual and verbal learning and in stages) give way to vomiting, cachexia and retrograde amnesia, with retention of motor emaciation, pallor, nystagmus, hydrocephalus, optic atrophy, and tremor although the child learning abilities, due to lesions involving the amygdaloid and hippocampal pathways remains bright, cheerful, and active until a late stage. The condition was best described by Dr. in the anterior part of the diencephalon surrounding the floor and walls of the third A. Russell in 1951.5471
diencephalon (Gr, through or between þ brain) The caudal end of the forebrain, continuous with the mesencephalon; the thalamus. differential signal The difference between two unlike signals applied to the respective two input terminals of a differential EEG amplifier. (From Noachtar S, et al. A glossary of terms most commonly used by clinical electroencephalographers. EEG Clin Neurophysiol 1999;52[Suppl]: 21–41. Reproduced by kind permission of the IFCN and Elsevier Science.)
differentiation The process whereby tumor cells acquire unique histological characteristics differentiating them from other types of cells. diffuse astrocytoma See astrocytoma.
diffuse axonal injury (diffuse degeneration of white matter, shearing injury, inner cerebral trauma, diffuse white matter shearing injury) The appearance of axonal injury with associated focal lesions in the corpus callosum and rostral brain stem and with intraventricular hemorrhage, occurring in brains subjected to severe angular acceleration but without increased intracranial pressure or hypoxia.6 This and ischemia represent the major mechanisms responsible for neuronal damage following head injury. This traumatic disorder of CNS axons is shown pathologically by scattered disruptions of the axons with axonal retraction, sometimes in more severe cases associated with focal petechial hemorrhages and larger areas of hemorrhagic necrosis in the dorsal lateral midbrain and corpus callosum. The condition is due to simple forces acting upon the brain and does not require that the head actually make contact with an unyielding surface. Initial coma improving through stages of mutism, hypophonia, cerebellar and pyramidal signs, and vestibular symptoms and signs are the usual clinical concomitants. diffuse cerebellar cortical hypertrophy A rare developmental anomaly characterized by the presence of enlarged cerebellar folia with abnormal cells beneath the granule cell layer.4806 See also Lhermitte–Duclos disease.
diffuse cerebral degeneration in infancy
diffuse cerebral degeneration in dysmorphic syndrome manifesting also as facial capillary hemangiomas, infancy See Alpers disease. diffuse cerebral ischemia That
visceromegaly, hydrocephalus, and skin papules.381
condition of the cerebral circulation in which diffuse neurofibrillary tangles the level of blood flow is not sufficient to meet the metabolic needs of the brain but is with calcification A syndrome of slowly progressive cortical dementia in adult sufficient to protect against infarction. life with temporal and/or frontal lobar atrophy, and widespread neurofibrillary diffuse cerebral sclerosis with tangles in the cortex.3539 pigmentary retinopathy A sporadic disorder characterized by abnormal phytanic acid storage, bilateral keratopathy, diffuse neuronal necrosis A result and sudanophilic leukoencephalopathy.3348 of hypoxic–ischemic injury in the neonate.
diffuse cortical dysplasia (doublecortex syndrome, subcortical band heterotopia, band heterotopia) A genetically determined disorder of neuronal migration characterized by diffuse band heterotopia underlying the cortical mantle and giving the appearance on MRI scans of a double cortex, as a result of the arrest of migration of a population of neurons in subcortical regions on its way to the cortex. It is due to a mutation in the doublecortin gene on chromosome X. A comprehensive review is that of Aicardi.75 Clinically, the disorder is usually found in females and presents with various epileptic syndromes, including drop attacks, the Lennox–Gastaut syndrome, and infantile spasms. Some degree of mental retardation is usual.4873 See also lissencephaly, in which the failure of neuronal migration is more generalized and does not show the same double-cortex appearance.
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development, and frequent infections,1641 as well as congenital cardiac anomalies, facial dysmorphisms, gastrointestinal malformations, and more.3378
digit (from Lat, a finger) 1. A finger, thumb, or toe. 2. A number from 0 to 9. digit span test A subtest of the Wechsler Adult Intelligence Scale test of attention span, in which the subject repeats progressively longer lists of numbers read out at 1/s by the examiner; and then repeats similar lists but in reverse order. The normal forward span is 6 1 and the reverse span is 2 less. The test is not significantly affected by normal aging and is not very sensitive to dementia.4332
diffuse poliodystrophy The condition of diffuse proliferation of microglia and astroglia with some neuronal loss within the brain, as occurs in some patients with HIV infection. The condition digit symbol test A part of the represents a subacute encephalitis, which was Wechsler Adult Intelligence Scale in which the subject is required to place the correct its former name.4199 number under each of a line of symbols according to a key provided, over a fixed diffuse progressive cerebral period of time.6688 The test is sensitive cortical atrophy See Alpers disease. mainly to right hemisphere damage.
diffuse sclerosis 1. See Schilder digital reflex See Hoffman reflex. disease; 2. See leukodystrophies; 3. Subacute encephalitis—in the classification of Poser digital subtraction A technique and van Bogaert.5096 whereby X-ray information is taken from a fluoroscopic screen by photomultiplier tubes diffuse white matter shearing and digitalized. By obtaining information injury See diffuse axonal injury. from the screen immediately before passage of the contrast material through the blood diffusion weighted imaging An vessels, the background information can be MRI technique allowing visualization of mathematically subtracted from that stroke effects within an hour of their obtained after injection of the dye, so that occurrence and also permitting aging of any only the opacified blood vessels are stoke lesions seen. ‘‘Diffusion’’ refers to the visualized. diffuse cortical sclerosis See Alpers random translational motion of molecules in disease. a fluid system; in this case it is the diffusion digital subtraction angiography of water itself that is imaged. An A technique of angiography with diffuse degeneration of white enhancement is diffusion tensor imaging which intravenous injection of the contrast matter See diffuse axonal injury. allows the visualization of white matter medium. Enhancement and digitalization of fibers on a millimeter-level the initial image allows its electronic diffuse infiltrative multidimensional scale by measuring ‘‘subtraction’’ from the image obtained lymphomatosis An AIDS-related fractional anisotropy and mean diffusivity. following injection, done by means of a peripheral sensorimotor neuropathy in computer.4971, 6097 which the nerves (as well as many other digastric line See Fischgold line. The sensitivity of digital subtraction tissues) are infiltrated by CD8 T systems permits a great reduction in the lymphocytes. The condition is not a amount of dye injected compared to that DiGeorge syndrome (third and lymphoma, despite the name applied.2347 required for conventional angiography, such fourth pharyngeal pouch syndrome; velocardiofacial syndrome) A chromosomal savings being important in patients with diffuse Lewy body disease See anomaly (deletion of 22.q11.2) characterized congestive heart failure or renal failure. The dementia with Lewy bodies. by hypoplasia or absence of the thymus and combination of smaller catheters and digital parathyroid glands. Clinically, the condition subtraction equipment may enable the diffuse neonatal presents with neonatal hypocalcemic tetany, examination to be performed as an hemangiomatosis A congenital outpatient procedure.4678 delayed mental and neurological
Diogenes syndrome
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digitalgia paresthetica The term of Wartenberg for tingling suddenly felt in the distribution of the superficial branch of the ulnar nerve and followed by numbness without preceding trauma. Abduction of the little finger precipitates the tingling thereafter. The cause is unknown.6660
childhood, manifesting grand mal seizures as DIMS with atypical a result of this metabolic error. polysomnographic features A syndrome characterized by complaints of frequent awakenings and of non-restorative dilatation (from Lat, dilato, or Fr, dilatation; to spread out or widen) Abnormal sleep. The EEG shows high voltage alpha waves superimposed on the non–rapid eye widening of a structure such as a hollow movement sleep delta activity, either viscus or artery. The word dilation is See also perfectly adequate but the repetition of the persistently or as brief intrusions.1629 ASDC Diagnostic Classification. digiti quinti sign (fifth finger sign) ‘‘-at-’’ is for some reason now customary, Slight abduction of the little finger on one though its Latin derivation is from the side when the arms are outstretched; a sign of transitive verb, or from the noun for an ding (the ding) Mild posttraumatic mild hemiparesis rather than of cerebellar implement which itself does the dilating. concussion with brief amnesia but without disease as differentiated by Dr. Milton Alter. Dilatators are not, however, used at all today. discernible evidence of alteration in When the finger spreads occurs bilaterally, consciousness. It is an occupational disease of however, the sign has no diagnostic professional football players6903 but is far significance.150 See also Souques sign, pinky dilatation lag Slowness and delay in dilation of the pupil in dark conditions after more frequently seen in the characters finger sign and Le´ri sign. portrayed in children’s animated cartoons. a bright light stimulus is withdrawn as a
result of the decreased pull of the radial dilator muscle. blindisms. There is less dilation of the affected pupil (more than 0.5 mm difference at 4 s than at digitoocular sign The tendency of 12 s) after a light flash. The lag is assessed photophobic children to dig their fingers or after 5 s of darkness in comparison with the fists into their orbits, which in time leads to other, healthy pupil, and there should be no atrophy of the periorbital tissues and further lag between 5 and 10 s.5027 sunken eyes. The presence of such lag is a cardinal feature of the Horner syndrome,6488 although digitorenocerebral syndrome it is almost invisible to the naked eye and can A recessively inherited dysmorphic only be demonstrated by in-dark or infrared syndrome characterized also by absence of pupillometry. A camera, however, can the distal phalanges, renal and cardiac quantitate the rate of dilation accurately,5027 anomalies, seizures, optic atrophy, science thus eclipsing art. hypotonia, and mental and motor delay.1908
digitoocular maneuver See
dihydrobiopterin synthetase deficiency A congenital syndrome also manifesting as hypotonia, dystonia, spasticity, neonatal seizures, hyperphenylalaninemia, aminoaciduria, and mental and developmental delay.3341 See phenylketonuria.
dihydropteridine reductase deficiency (phenylketonuria 2) A progressive congenital dysmorphic syndrome also manifesting as feeding difficulties, hypotonia, dystonia, spasticity, neonatal seizures, hyperphenylalaninemia, aminoaciduria, and mental and developmental delay,3341 and usually leading to death within 2 years. The condition does not respond to diets with a low phenylalanine content. See also phenylketonuria.
dilated cardiomyopathy See limb-girdle muscular dystrophy.
dinitrophenyl hydrazine reaction (DNPH Reaction) When equal volumes of a saturated solution of DNPH in 1 N hydrochloric acid and of urine are added together, a yellow or white precipitate is formed if ketoacids or ketones are present. The test is generally requested as a screen for the presence of ketoacids in maple syrup urine disease but is also positive with the ketones produced in propionic acidemia and methylmalonic aciduria.
Dinno syndrome (pseudo-Marfan syndrome) A congenital dysmorphic syndrome manifesting also dislocation of the lens, arachnodactyly, macrocephaly, hydrocephalus, and osteosclerosis or osteopetrosis.381
Dimitri–Parkes-Weber disease See Sturge–Weber syndrome.
dimorphous leprosy A form of leprosy with features of both the lepromatous and the tuberculoid forms, and with both skin and nerve involvement. dimple sign The presence of a localized, concave, oval area of pressure atrophy of compressed tissues, seen over the fibular head in cases of peroneal nerve pressure palsy, below the medial epicondyle in patients with ulnar neuropathy at the elbow1022 and in the low buttock after local trauma to fibers destined for the pudendal nerve at that site.6026
dihydropyrimidine dehydrogenase deficiency
DIMS Acronym for Disorders of Initiating
A syndrome with onset in infancy or
and Maintaining Sleep.
Diogenes syndrome A literary allusion to the habits of the Greek philosopher who is said to have supplied all of his (minimal) needs for food and clothing by begging. His ideals included living a life according to nature, self-sufficiency, freedom from emotion, lack of shame, outspokenness, and contempt for social organization.5704 Clark and his colleagues reported the cases of 30 people who showed gross self-neglect in old age, living in squalor and filthy domestic and personal disorder, and suggested that this state constitutes a syndrome which they labeled thus. Most had had successful careers and 15 of the group still had a mean intelligence score of 115, dementing diseases thus being ruled out as causal. Cerebrovascular disease, Parkinsonism, and malignancies were detected in some subjects, but vitamin deficiencies in almost all.
diphasic dyskinesia A conspicuous example of the syndrome was the nineteenth-century English aristocrat Lord Rokeby, who allowed his estate to run to seed untended, while he spent much time immersed in water, keeping a piece of meat beside him for occasional sustenance.
diphasic dyskinesia A hyperkinetic form of fluctuation in the severity of dyskinetic movements in Parkinsonian patients on long-term levadopa therapy, in parallel with the variations in the L-dopa levels in the blood. diphasic wave (biphasic wave) A wave consisting of two components developed on alternate sides of the baseline.
diphtheria Poisoning with the toxin of Corynebacterium diphtheriae (Klebs–Loeffler bacillus) which induces local paralysis of the bulbar, accommodative, external ocular, respiratory, and/or limb muscles in about one in five cases due to demyelinating motor neuropathy during the third to the twelfth week after healing of the respiratory lesions. Mild sensory and potentially severe autonomic neuropathies may also occur, and optic neuritis and encephalitis have been reported, but rarely. In the majority that survives diphtheritic neuropathy, recovery is eventually complete. Post-diphtheritic paralysis was the first neuropathy described as such, by Dr. Samuel Bard in 1771, although Hippocrates described nasal regurgitation in what was surely this disease. Lettsom gave an account of alcoholic polyneuritis 8 years after Bard’s report.
diphtheritic pseudotabes The syndrome of severe proprioceptive loss with sensory ataxia occurring in some patients with diphtheria.2689
diphthongia The utterance of sounds having two different pitches during phonation, usually as the result of a local lesion of the larynx. diplacusis 1. A sound is perceived by the two ears as having a different pitch. 2. Perception of a single sound as having two components. In each case, a disorder of the cochlear apparatus is likely to be responsible.
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diplegia (Gr, two þ strokes) Weakness of the corresponding part on the two sides of the body—usually of both legs or of both sides of the face. Cerebral diplegia (Little disease) is a form of spastic cerebral palsy with involvement of both legs. Because we also have the term paraplegia, the word diplegia is only relevant when used to describe strokes occurring in the same site on each side of the body, for example, the arms, which is extremely rare. In Foerster atonic diplegia, the legs are affected more than the arms, and a cerebellar syndrome, mental retardation, and hypotonia also occur.
dipping (slow-downward ocular bobbing) An abnormal ocular condition in which the eye movement is slow downward with a fast return to the mid-position. It is usually caused by anoxic encephalopathy, the area responsible being in the pons.
dipsomania (Gr, thirst þ madness) (oenomania) A recurrent, overpowering desire to drink alcohol in quantity, followed by periods of abstinence. direct current amplifier An
amplifier which is capable of magnifying DC (zero frequency) voltages and slowly varying voltages. Comment: the direct-coupled diplegia with dissociation amplifier and the chopper amplifier are direct (pseudoplegia, aphemia) A term denoting current amplifiers. See also direct-coupled dissociation of voluntary and emotional amplifier and chopper amplifier. (Adapted from movements, such as those of the face, jaws, the 1974 report of the Committee on throat, and larynx in the anterior operculum Terminology, IFCN. In: Chatrian GE, syndrome.4053 See also oral-buccal apraxia. Bergamini L, Dondey M, et al. A glossary of terms most commonly used by clinical diploe¨ The cancellous bone between the electroencephalographers. EEG Clin Neurophysiol 1974;37:538–48. Reproduced by kind layers of compact bone forming the skull except in the cribriform plate of the ethmoid permission of Elsevier Science and the IFCN.) and the orbital plates of the frontal bones. direct-coupled amplifier An diplomyelia The longitudinal splitting amplifier in which successive stages are connected (coupled) by devices which are not of the spinal cord, as in diastematomyelia. For this portion of its length, the cord is frequency-dependent. reduplicated rather than bisected; thus there are frequently two central canals. direction-changing nystagmus That form of jerk nystagmus in which the direction of the fast component is the same as diplopia (Gr, double þ vision) The the direction of gaze. Thus the fast awareness of two objects with but a single stimulus, as a result of lack of parallelism of component will be to the left with leftward gaze and to the right with rightward gaze. the ocular axes. In crossed diplopia (double vision caused by See central nystagmus. exotropia), the false image (from the affected eye) is peripheral to that from the healthy direction-fixed nystagmus That eye. In uncrossed or homonymous diplopia form of jerk nystagmus in which the (double vision caused by esotropia), the false direction of the fast component is to the same image (from the affected eye) is on the same side, whatever the direction of gaze. side as that eye; the cause is likely to be a VI Direction-fixed positional nystagmus is a nerve palsy. horizontal jerk nystagmus which may occur In monocular (uniocular) diplopia, the two transiently in normal subjects whose heads images are seen with one eye.4275 Binocular are rotated in either direction while they lie diplopia is that condition in which one of the two supine in darkness, but it always beats to the images is obliterated when either eye is closed. same side, whereas with direction-changing See also cerebral diplopia. positional nystagmus the nystagmus changes direction with head rotation, so that it either beats in the direction of the floor (geotropic dipole localization method nystagmus) or toward the sky (apogeotropic A technique under development whereby nystagmus). See also peripheral nystagmus. using computerized processing of scalpderived recordings of induced spikes on the EEG, the dipole of origin may be localized direction-of-scratch test A test of intracerebrally.5905 posterior column (and of cortical sensory)
disconnection syndromes
291
function, wherein the examiner demonstrates the direction in which he makes a light scratch on the subject’s palm (towards, away from, left, right) while the latter watches; and then asks for identification of the direction in which further scratches are made with the subject blindfolded. Rough quantitation can be attained by varying the length of the scratch stimulus.2729
directional preponderance An increase in the duration or amplitude of the nystagmus beating toward one side compared with the other when induced by caloric testing. This lateralized difference suggests the presence of imbalance within the vestibular system but has no precise localizing value.
disabling (diabetic) neuropathy See diabetic neuropathy.
disabling paroxysmal vertigo See vestibular paroxysmia.
disabling positional vertigo A syndrome of persistent positional vertigo with nausea and tinnitus, considered to be caused by ischemia of the VIII cranial nerve.3165
disability The functional consequence of impairment, reducing a patient’s capacity to directional akinesia (directional hypokinesia) A reluctance to move the eyes perform the normal activities of daily life discharge An interpretive term used to or the hands toward the (left) side, of which within that person’s physical and social side there is hemispatial neglect as a result of environment. Scales for activities of daily living designate paroxysmal EEG patterns. See and performance scales fall within this category. epileptiform pattern, seizure pattern, and a (right) parietal lobe lesion causing EEG. See also action potential. defective organization of movements toward Disability Assessment for the left half-space.761 Dementia Scale A validated 40-item discharge frequency The rate at which a potential discharges repetitively. caregiver rating scale, measuring items directional cutaneous When potentials occur in groups, the rate of concerned with activities of daily living, kinesthesia The recognition of the mostly relevant in the case of patients with recurrence of the group and rate of repetition direction in which a cutaneous stimulus is of the individual components in the groups dementia.2324 passing; a fundamental requirement for the should be specified. (From the 2001 Report perception of a complex pattern drawn on of the Nomenclature Committee of the disability neurosis (posttraumatic the skin such as a letter or number, and a neurosis, accident neurosis) The persistence American Association of Electromyography 19 function of the posterior columns in of injury-related symptoms beyond the time and Electrodiagnosis. Reproduced by kind 1465 humans. See direction-of-scratch test. permission of the AAEE.) expected for recovery in the absence of evidence of incapacitating illness sufficient discogenic pain Pain felt in radicular to prevent the patient from returning to directional continuous-wave distribution as a result of irritation of a work. Such patients are convinced of the Doppler sonography A test reality of their disability and their histories posterior nerve root by a protruded employing ultrasound to assess changes in intervertebral disk. Its localization, the periorbital circulation and thus to detect do not suggest previous manipulative or lancinating quality, and association with exploitative behavior, but they tend to retain disease in the cervical portion of the internal activities that stretch the theca (such as substantial resentment against their carotid artery. employer and, often, their physician. In the coughing and bending over) are suggestive, In normal supraorbital and frontal 2152 ‘‘The physical symptoms but it takes a trained neuroanatomist to arteries, blood flows from within the skull to words of Ford, are. . .worn as a badge of angry protest for the distinguish neurogenic pain from that due to the surface of the scalp. Direction-sensing injustices which they feel they have suffered. myofascial pain syndromes. As a result, the continuous-wave Doppler sonography To give up these symptoms would mean that diagnosis of prolapsed intervertebral disk is identifies both the amplitude of the pulsations and the direction of the flow. In their anger had no justification. [When seen made in many patients when the problem is in psychiatric consultation they] have long- actually resulting from what is presumed to the presence of severe disease of the be local muscle spasm. established patterns of disability and like ipsilateral internal carotid artery, the Humpty Dumpty ‘all the Kings horses and direction of blood flow is reversed. The sensitivity of the test can be increased using a all the Kings men’ can’t put them together discography The injection of contrast again.’’ See compensation neurosis. medium into an intervertebral disk under variety of compression maneuvers to fluoroscopic control, in order to visualize determine whether there is a compensatory extrusion of the disk or other pathology such increase in blood flow from collateral vessels. disability scales Semiquantitative The test is relatively simple to perform rating scales of capacity and of performance as disk disruption as a cause of pain in the back. but is sensitive only to severe stenosis of the measuring disability outcomes for internal carotid artery and cannot neurologic rehabilitation.The Barthel Index, discoid In the shape of a disk or quoit. differentiate this from occlusion.4678 Functional Independence Measure, the Functional Capacity Index, Injury Severity Score, Sickness Impact Profile, and disconnection anomia See anomia. directional dermokinesia The Functional Assessment Measure are reliable awareness of the direction in which the skin and valid psychometrically similar measures disconnection syndromes is being pulled by an examiner. of global disability. See also stroke scales. (disconnexion syndromes; transcortical syndromes, conduction syndromes) The directional hypokinesia See effects of lesions of association pathways, disability status scale See Kurtzke directional akinesia. connecting separate brain regions, either Rating Scale.3612
disconnexion syndromes those which lie exclusively in a single cerebral hemisphere or those which join the two halves of the brain. Geschwind regarded them as higher function deficits that result from white matter lesions or lesions of the association cortices, the latter acting as relay stations between primary motor, sensory, and limbic areas. They include alexia (word blindness) without agraphia, pure word deafness, ideomotor apraxia, tactile aphasia, conduction, and transcortical dysphasias.2338, 2339 Although Wernicke suggested that conduction aphasia resulted from damage to the pathways separating the posterior language comprehension center and the speech output center, the concept of disconnection as the basis for certain syndromes of cerebral damage was only fully developed by Geschwind.2338 An excellent review is that of Absher and Benson.41
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alcoholism, and hyperphagia are early symptoms, after which the usual features of frontal lobe dementia develop. The gene is mapped to 17q21–22. Pathologically, atrophy and spongy changes are found in the frontotemporal cortex and there is neuronal loss in the substantia nigra and amygdala, without Lewy bodies.3775 See frontotemporal dementia.
disjunctive eye movements
performance, excessive tendency to sleep, unavoidable napping, and an increase in total 24-h sleep with full arousal on awakening. The classification in Chart D–9 is adapted from the 1979 Association of Sleep Disorders Centers Diagnostic Classification,280 which although superseded by the American Sleep Disorders Association classification,1629 still provides a useful overview of this class of disturbances.
1. Abnormal eye movements resulting from aberrant regeneration of one of the oculomotor nerves, its fibers being directed to the wrong nerve.505 2. See vergence.
disorders of initiating and maintaining sleep (DIMS)
Heterogeneous conditions which are considered to be responsible for inducing disjunctive nystagmus Forms of nystagmus in which the eyes do not maintain disturbed sleep and for diminishing the their normal yoked position. See dissociated amount of sleep experienced. The classification in Chart D–10 is adapted from the 1979 nystagmus. Association of Sleep Disorders Centers Diagnostic Classification,280 which, although disk disruption A syndrome of superseded by the American Sleep Disorders disconnexion syndromes See persistent low back pain following Association classification,1629 provides a useful disconnection syndromes. compressive spinal overload. The diagnosis is overview of this class of disturbances. made by discography, which reproduces the patient’s pain and demonstrates disruption discrete activity See interference of the internal architecture of the disk.1342 pattern. disorders of the sleep–wake cycle Conditions sharing the feature that discrete movements ‘‘A process disk prolapse Backward herniation of they represent the misalignment of the employing a small field of musculature and the nucleus pulposus of an intervertebral subject’s individual sleeping and waking producing a single phasic movement of a disk as seen on a myelogram, to the extent patterns and the circadian pattern of that small movable part against the background that nerve roots may be compressed or the individual or society. This group represents of a phasically inert musculature, in an spinal canal compromised. the third class of sleep disturbances anaesthetized animal’’ (Sir Francis Walshe). recognized in the Association of Sleep This represents a laboratory abstraction disk protrusion Bulging of an Disorders Centers Diagnostic rather than a clinical reality, since all focal intervertebral disk, as seen on a myelogram. Classification;280(see Chart D–11; but see movements occur in association with others This is a common finding related to age and also the 2001 American Sleep Disorders in more proximal areas and thus are never wear and tear and has no pathological Association Diagnostic Classification.1629) truly ‘‘discrete’’ if the word is taken to mean significance unless it leads to operation; Reproduced by kind permission of the separate or distinct. Nevertheless, with the unlike disk prolapse, it is not associated American Academy of Sleep Medicine. introduction of transcranial magnetic with compression of a spinal nerve root. The stimulation in the human, the term may problem lies in telling the difference. disorganization Gross alterations in have regained both relevance and currency. frequency, form, topography, and/or disk reabsorption (isolated disk quantity of physiological EEG rhythms in disease The clinical expression of a resorption) A variant of degenerative spinal (1) an individual record relative to previous morbid process. stenosis in which chronic low back pain is records in the same subject or to the rhythms associated with reduction of the height of the of homologous regions on the opposite side disease steps An assessment schedule (L5/S1) disk to 3 mm or less, facet joint of the head or (2) relative to normal subjects used in patients with multiple sclerosis, relying hypertrophy, and a trefoil appearance of the of similar age and similar state of vigilance. largely upon motor (ambulatory) functions.2945 spinal canal.1341 (From Noachtar S, et al. A glossary of terms most commonly used by clinical disinhibition–dementia– disorders of excessive sleep electroencephalographers. EEG Clin Parkinsonism–amyotrophy Neurophysiol 1999;52[Suppl]:21–41. (DOES) A group of functional and Reproduced by kind permission of the IFCN complex (DDPAC) A dominantly organic conditions in which the chief and of Elsevier Science.) inherited disorder with onset in mid-adult symptoms are the awareness of life, characterized by dementia, inappropriate and undesirable sleepiness Parkinsonism without tremor, and during waking hours, often with disorientation Lack of ability to define amyotrophy. Personality changes, decreased cognitive and motor ones position vis-a`-vis the environment, or
dissection
293
Chart D–9. Disorders of Excessive Sleep B1. Psychophysiological a. Transient and situational DOES b. Persistent DOES B2. Associated with psychiatric disorders B3. DOES associated with use or withdrawal from drugs or alcohol B4. DOES associated with sleep-induced respiratory impairment: a. Sleep apnea DOES syndrome b. Alveolar hypoventilation DOES syndrome B5. Sleep-related myoclonus and restless legs: a. Sleep-related myoclonus DOES syndrome b. Restless legs DOES syndrome B6. Narcolepsy B7. Idiopathic CNS hypersomnolence B8. DOES associated with other medical, toxic, and environmental conditions B9. Other DOES conditions a. Intermittent DOES (periodic) syndromes: Kline–Levin syndrome Menstrual-associated syndrome b. Insufficient sleep c. Sleep drunkenness B10. No DOES abnormality a. Long sleeper b. Subjective DOES complaint without objective findings Adapted from Association of Sleep Disorders Centers. Diagnostic classifications of sleep and arousal disorders. Sleep 1979; 2: 1–137 by kind permission of the American Academy of Sleep Medicine.
Chart D–10. Classification of Disorders of Initiating and Maintaining Sleep A1a. Transient and situational DIMS A1b. Persistent DIMS A2. DIMS associated with psychiatric disorders A3. DIMS associated with use or withdrawal from drugs or alcohol A4. DIMS associated with sleep-induced respiratory impairment; a. Sleep apnea DIMS syndrome b. Alveolar hypoventilation DIMS syndrome A5. Sleep-related myoclonus and restless legs a. Sleep-related myoclonus DIMS syndrome b. Restless legs DIMS syndrome A6. DIMS associated with other medical, toxic, and environmental conditions A7. Childhood-onset DIMS A8. Other DIMS syndromes a. Repeated REM sleep interruptions b. Atypical polysomnographic features A9. No DIMS abnormality a. Short sleeper b. Subjective DIMS complaint without objective findings Adapted from Association of Sleep Disorders Centers. Diagnostic classifications of sleep and arousal disorders. Sleep 1979; 2: 1–137 by kind permission of the American Academy of Sleep Medicine.
Chart D–11. Classification of Disorders of the Sleep–Wake Cycle C1. Transient a. Rapid time zone change syndrome (jet lag) b. Work shift change in conventional sleep–wake schedule C2. Persistent a. Frequently changing sleep–wake cycle b. Delayed sleep phase syndrome c. Advanced sleep phase syndrome d. Non-24-h sleep–wake syndrome e. Irregular sleep–wake pattern From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Medicine 1991/2001. Reproduced by kind permission of the Academy. See also http://www.sleepeducation.com/Disorders.aspx.
to localize oneself within a place such as a room, house, town, or country, usually due to a lesion in the right parietal lobe.2091
dissecting aneurysm See aneurysm. dissection 1. Splitting of the wall of an artery due to disease of the intima, thus opening up a false channel for the passage of blood which compresses the normal channel. 2. The lesion produced by penetration of the circulating blood into the substance of the wall of a vessel with subsequent extension of the effused blood for a varying distance between its layers. They are important causes of strokes in young adults. Mechanical trauma and an inherent weakness of the arterial wall collagen are thought to be responsible. The presence of the dissection is well shown by magnetic resonance angiography. Dissections were first recognized by Maunoir, a Swiss surgeon, in 1802. Predisposing factors include fibromuscular dysplasia, Ehlers–Danlos type IV syndrome, Marfan syndrome, cystic medial necrosis, polycystic kidney disease, osteogenesis imperfecta, giant cell arteritis, polyarteritis nodosa, meningovascular syphilis, and moyamoya disease. Local infections and hyperhomocysteinemia are more rare causes. In the extracranial carotid artery, the usual clinical picture includes minor stroke-like episodes with headaches sometimes resembling migraine and an associated Horner syndrome due to dissections of the
disseminated encephalomalacia with cavity formation medial coat; the prognosis is commonly good. Intracranially, the dissections are usually subintimal and may lead to subarachnoid hemorrhage and to lower cranial nerve palsies, probably by direct compression at the jugular faoramen. Common carotid artery dissection causes local swelling and pain. Dissections of the vertebral arteries extracranially are less common; they are more likely to occur in women, are often bilateral, and can lead to neck and posterior head pain and to brainstem strokes. Minor trauma is likely to play a part in causation. Intracranial vertebral dissections present with subarachnoid hemorrhage. Basilar dissections are typically lethal but fortunately are rare. The main neurological syndrome associated with aortic dissections is that of cervical vascular myelopathy, but the cardiac complications often overshadow that.
disseminated encephalomalacia with cavity formation (familial multilocular encephalomalacia) A leukoencephalopathy of unknown cause characterized by the formation of large cavities in the white matter of infants. Seizures, progressive rigidity, and pareses lead on to stupor and early death.1349
disseminated intravascular coagulation A syndrome resulting from vascular damage in which there is activation of plasma coagulation factors or entry of tissue thromboplastic material into the blood. The most prominent clinical feature is bleeding, including cerebral hemorrhage, which stems from the consumption of platelets and certain coagulation factors, as a result of which severe thrombocytopenia and deficiency of fibrinogen arise. The clinical spectrum extends from insignificant laboratory abnormalities to uncontrollable and persistent hemorrhage and thrombosis.
disseminated neurogenic atrophy The occurrence of clusters of 3–6 small angulated muscle fibers of the same histochemical type in muscle biopsy specimens. The finding suggests progressive denervation without effective collateral sprouting.
disseminated sarcoid leukoencephalopathy See neurosarcoidosis.
disseminated vasculomyelinopathy A term encompassing the para- or post-infectious diseases of the nervous system, which takes note of the fact that there is evidence of both demyelination and damage to small blood vessels in these conditions. Clinically, an abrupt monophasic illness follows common infections with a latent interval of days or weeks and consists of any of the syndromes of; acute brain stem (Bickerstaff) encephalitis, acute/recurrent neuromyelitis optica, acute/recurrent optic neuritis, acute/recurrent transverse myelitis, acute cerebellar ataxia, acute hemorrhagic leukoencephalopathy, acute labyrinthitis, acute toxic encephalitis/encephalopathy, acute/recurrent/multiphasic disseminated encephalomyelitis, aseptic lymphocytic meningoencephalitis, brachial plexitis, chronic progressive disseminated encephalomyelitis, Landry–Guillain–Barre´ syndrome, Miller Fisher syndrome, post-infectious and post-vaccinal encephalomyelitis, pseudotumor cerebri, recurrent neuromyelitis optica with endocrinopathies (Vernant syndrome), and likely clinical encephalitis, aseptic meningitis, ataxia, chorea, myelitis, cranial and peripheral neuropathies (including acute inflammatory demyelinating polyneuropathy), and brachial neuritis, in any combination.5090, 840 In the case of acute transverse myelitis, suggested diagnostic criteria require bilateral sensory, motor or autonomic dysfunction referable to the spinal cord, with a clearly defined sensory level progressing to a nadir at between 4 and 21 days from onset. The enhanced MRI must eliminate structural causes and show evidence of an inflammatory origin, shown by CSF findings of pleocytosis or raised IgG levels.6264
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dissociated aphasia See Wernicke aphasia.
dissociated nystagmus (disjunctive nystagmus) Those forms of nystagmus in which the movements of the eyes are not symmetrical, the oscillations being greater in amplitude, speed, or direction in one eye, or present only in one eye. Both jerky and pendular forms can occur. Internuclear ophthalmoplegia, convergence-retraction nystagmus, spasmus nutans, and see-saw nystagmus are examples. The usual cause is a brainstem lesion. See also pseudo-abducens palsy and divergence nystagmus. dissociated vertical divergence A congenital ocular dysmotility syndrome, in which occlusion or dimming of one eye leads to the elevation of that eye. The sign has no localizing value.1280
dissociation (conversion) A mental
mechanism whereby a subject can suppress awareness of a sensation or of mental content, or can inhibit the usual facility for movement of a body part either voluntarily or under the influence of strong emotion. Altered perceptions of the self or of the environment and depersonalization are other possible features. Head pointed out that neurologists employ this mechanism every time they look through an ophthalmoscope. It is defined in ICD-10 as ‘‘a partial or complete loss of the normal integration between memories of the past, awareness of identity and immediate sensations and control of body movements.’’ Included thus would be dissociative amnesias, fugue states, trance and possession disorders, dissociative anesthesia, sensory losses, motor disorders, convulsions (non-epileptic seizures), and and usually unnamed dissociated anesthesia Impairment other intercurrent 901 manifestations. of some forms of sensation with retention of others in the same area. A typical form is the loss of the thin-fiber (spinothalamic) dissociation cytoalbuminologique functions of pinprick pain, light touch, and An euphonious French phrase indicating temperature sensation, with sparing of the that the increases in CSF protein levels and in thick-fiber functions such as discriminative the CSF cell count are not always of the same light touch, position sense, and vibration, on magnitude; in this case, the protein level is the body below the level of a cordotomy greatly elevated but there is little or no sectioning the spinothalamic tract. The increase in the number of white cells. Such lateral medullary syndrome, tabes dorsalis, may occur in spinal block, in acute vitamin B12 deficiency, diabetes mellitus, inflammatory demyelinating and some forms of hereditary sensory and polyneuropathy, and with acoustic autonomic neuropathy are other examples. neuroma.
295
dissociation of lateral gaze syndrome See Raymond–Cestan syndrome.
distal myopathy with proximal weakness and early respiratory failure raised serum CK levels, and sparing of the cranial muscles.3079
distal axonal degeneration See
dissociation of reflexes Absence of
distal axonopathy.
the superficial and augmentation of the muscle stretch reflexes, as with pyramidal tract lesions.
distal axonal spheroids Swellings
dissociative disorder See
containing various organelles, occurring at the terminations of axons in a variety of diseases.
somatization disorder.
distal axonopathy (dying back neuropathy, distal axonal degeneration, distal lower motor neurone syndrome) Forms Those varieties of dysphasia in which the of neuropathy in which there is asymmetrical relevant cortical areas are partly isolated from the remainder of the brain by virtue of distal but centripetal failure of function due to impairment of the axonal transport the interruption of afferent, efferent, or mechanisms, in turn usually as a result of associative pathways. Conduction and damage to the perikaryon of the nerve transcortical dysphasias are examples. cell.1060 This leads to secondary myelin breakdown. dissonance (from Lat, to disagree in High titers of anti-GM1 or other sound) Discord. antibodies are found in a majority of cases. distal (from Lat, to be distant from another See also multifocal motor neuropathy and proximal lower motor neurone syndromes. thing) The term for those body parts progressively more distant from the trunk or distal hereditary upper limb midline—thus the hands and feet and a fortiori the fingers and toes—as opposed to muscular atrophy A dominantly proximal. inherited neurogenic disorder presenting with weakness and atrophy of the distal arms and hands, brisk reflexes, and minimal distal acquired demyelinating symmetric neuropathy (DADS) An sensory findings. Electrophysiological studies do not suggest axonal loss. Motor acquired, symmetrical demyelinating nerve conduction velocities are nearly neuropathy with distal sensory or normal but distal motor latencies are sensorimotor features. The distribution of prolonged.2590 the weakness and the usual presence of an IgM kappa monoclonal gammopthy help to distal latency The interval between the distinguish this condition from chronic delivery of a stimulus to the most distal inflammatory demyelinating point of stimulation on a nerve and the onset polyradiculoneuropathy.3330, 5526 of a response. A measure of the conduction properties of the most distal portion of distal amyotrophy of predominantly the upper limbs motor or sensory nerves. (From the 2001 Report of the Nomenclature Committee of See monomelic amyotrophy. the American Association of 19 distal and segmental muscular Electromyography and Electrodiagnosis. atrophy of upper extremities See Reproduced by kind permission of the AANEM.) hereditary motor neuropathy. dissociative speech syndromes
hereditary myopathy, Welander myopathy) A heterogeneous group of genetic muscle diseases, often dominantly inherited, and characterized by progressive distal weakness and wasting. Creatine kinase levels are slightly raised and in some forms vacuolar changes are seen on muscle biopsy specimens. Cardiomyopathy is also described.2532 Abnormalities of the genes for dysferlin and desmin are the two best decribed. In the myopathy described by Welander,6711 progressive distal weakness and wasting with onset in mature adult life affects the hands most of all. The condition is seen almost exclusively in the population of Scandinavian countries. Serum creatine kinase levels are slightly raised and vacuolar changes are seen on muscle biopsy specimens. Gowers described a condition such as this in 19022532 but his patients might equally well have had myotonic dystrophy. Variant forms are listed in Chart D–12. Numerous distinct predominantly distal myopathies have been identified with discrete clinical and genetic patterns. The following descriptive listing owes much to the review by Mastaglia and Laing and the work of Nonaka.4156 The entities share the common pathologic feature of rimmed vacuoles and in all but Miyoshi myopathy the serum CK levels are normal or only slightly elevated.
distal myopathy See distal muscular dystrophy.
distal myopathy with desmin storage A dominantly inherited distal myopathy characterized by onset in earlymid adult life, gait disturbance due to distal leg weakness, and eventual generalization to all body areas, including the heart, leading to premature death. Electrical findings include prominent spontaneous activity, short duration motor unit potentials, and polyphasia. Muscle biopsy specimens show desmin storage and autophagocytosis.2996
distal anterior compartment myopathy A recessively inherited
distal lower motor neurone syndrome See distal axonopathy.
muscular dystrophy (a dysferlinopathy) mapped to the 2p13 locus. It resembles Miyoshi and Nonaka myopathies (see distal muscular dystrophy) but is characterized by onset in early adult life, initial weakness, and wasting in the anterior tibial muscles before rapid generalization to all muscle groups,
distal muscle wasting, nephritis and deafness See hereditary motor and distal myopathy with proximal weakness and early respiratory sensory neuropathy, type 2. failure A dominantly inherited distal distal muscular dystrophy (type 1 myopathy presenting in mid-adult life with distal myopathy, Gowers syndrome, late
distal myopathy with onset in infancy See distal muscular dystrophy.
tibialis anterior weakness, proceeding to
distal myopathy with proximal weakness and early respiratory failure
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Chart D–12. Forms of Distal Muscular Dystrophy4156, 4692, 4992 A. Definite entities 1. Welander distal myopathy (late adult onset, type 1), with autosomal dominant inheritance, linked to 2p13, as above.71 2. Nonaka myopathy (distal myopathy with rimmed vacuoles; early adult onset, type 1), with sporadic occurrence or autosomal recessive inheritance, mapped to 9p1–q1. There is striking distal weakness of the gastrocnemii and peroneal muscles and mild proximal weakness, with onset in early adult life and with slightly elevated CK levels. This is identical to quadriceps-sparing familial inclusion body myopathy. Progression is slow. Pathologically the condition is characterized by muscle fiber atrophy with rimmed vacuole formation in the cytoplasm. GNE mutations are responsible.4693 3. Miyoshi myopathy (early adult onset, type 2), with autosomal recessive inheritance, mapped to the 2p13 locus (like limb girdle muscular dystrophy type 2b). A dysferlinopathy with onset in youth or adult life with distal muscle weakness and atrophy, uniquely in this group affecting first the gastrocnemii, and with high serum CK levels. The arms are affected late but the small hand muscles are spared. Muscle biopsy changes are similar to those of Duchenne dystrophy.414, 4415 4. Udd/Markesbery–Griggs myopathy (late adult onset, autosomal dominant inheritance, onset in the anterior compartment of the legs) caused by mutations in the titin gene on 2q. 5. Tibial myopathy or Markesbery–Griggs/Type 2, late-onset hereditary distal myopathy (Finnish, late adult onset, type 2), with autosomal dominant inheritance and linkage to chromosome 2q31–33. This is a slowly progressive form, with onset in the anterior compartment. Serum CK levels are slightly raised.6436, 4088, 4087 6. Laing myopathy A dominantly inherited form with onset in infancy, of weakness and wasting of the anterior compartment of the legs, caused by mutations in a myosin gene (MYH7) on chromosome 14q. A variant is Laing early-onset myopathy (early adult onset, type 3), again with dominant inheritance and linkage to chromosome 14q11. Initial weakness and wasting are in the anterior compartment. Serum CK levels are slightly elevated.3646 7. Autosomal dominant with tibialis anterior weakness on 2q31 (tibial muscular dystrophy).2745 8. Autosomal dominant form with infantile onset. 9. Hereditary distal myopathy with sarcoplasmic bodies and intermediate (skeletin) filaments. 10. Autosomal dominant form with late onset and with desmin storage.6458 11. Autosomal dominant inclusion body myopathy with rimmed vacuoles, ophthalmoplegia, and variable joint contractures on 17p13.1.4126 12. Juvenile onset distal myopathy.6977 13. New Finnish distal myopathy.4018 14. Distal myopathy with proximal weakness and early respiratory failure.4664, 1151 15. Desmin-related distal myopathy.4357 16. Desmin-related myopathy.6434 See distal myopathy with desmin storage. 17. Desmin-related with sarcoplasmic bodies.1809 18. Oculopharyngeal distal myopathy.5557 19. Distal myopathy with onset in infancy: An autosomal dominant form has also been described. 20. A dominantly inherited nonprogressive form with onset in early childhood. Clinically, distal involvement of the arms and legs with selective weakness of the deltoid muscles occurs in association with scoliosis, genu valgus, and limitation of mobility of some joints. Muscle biopsy specimens show disproportion of fibers with selective atrophy of type I fibers.451 21. Distal myopathy with early adult onset: A dominantly inherited syndrome with onset in young or middle adult life. The thenar muscles and hand flexors are affected early and pes cavus is usually present. Muscle biopsy shows sarcoplasmal bodies and an abundance of intermediatesized skeletin filaments.69 22. Double ring myopathy A myopathy of adult life. 23. Forms with autosomal recessive inheritance5685 and with more generalized weakness and earlier onset.3559 In such cases, marked leg plantar flexor weakness is characteristic. These include autosomal recessive form with high serum CK levels; autosomal recessive form with rimmed vacuole formation and lamellar (myeloid) bodies; and autosomal recessive inclusion body myopathy on 9p1–q1.3369 24. Distal myopathy (New Guinea): A recessively inherited syndrome of distal weakness and wasting with onset in the fourth decade leading on to oculopharyngeal symptoms within the next 10 years, reported from New Guinea. 25. Distal myopathy affecting posterior leg and anterior upper limb muscles A dominantly inherited slowly progressive early-onset distal myopathy, in which the tibialis anterior muscle is spared.6797 26. Distal myopathy with myotilin S55F mutation A late-onset, dominantly inherited myopathy affecting the upper and lower leg muscles.543 27. A recessively inherited form caused by homozygous missense mutations in the nebulin gene in which the weakness uniquely affects the ankle dorsiflexors, finger extensors, and neck flexors. Histologically, nemaline bodies and rimmed vacuoles are not detectable.6612 See also the similar Laing distal myopathy. B. Forms reported only in single families Adult-onset distal myopathy.2003 Distal myopathy with pes cavus and areflexia.5738 Distal myopathy with vocal cord and pharyngeal signs.1992 Very late-onset distal myopathy.4981 Variable onset distal myopathy (Sumner, 1971 referenced by Udd6434).
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ventilatory impairment and girdle weakness.1151 Other, similar phenotypes have also been described.6889, 4664 See myopathy.
distal myopathy with rimmed vacuole formation See distal muscular dystrophy (Nonaka form).
distal small-fiber neuropathy A form of generalized peripheral neuropathy affecting the small-diameter, thinly myelinated and unmyelinated fibers. Clinically, complaints of paresthesias, hyperesthesias and burning, aching, shooting or prickling dysesthesias, with only a minor reduction in temperature and sharp pain sensations, and reduction in distal sweating are the usual findings. Thick-fiber sensory functions, motor power, reflexes, and conventional nerve conduction studies are almost or completely normal. Amyloidosis, monoclonal gammopathy, and chronic inflammatory demyelinating neuropathy are representative causes.6057
distal spinal muscular atrophy A variously inherited syndrome of distal wasting without sensory change, not yet certainly classified between the hereditary motor and the hereditary motor and sensory neuropathies. The clinical manifestations appear in childhood or adolescence and resemble those of hereditary motor and sensory neuropathy types 1 or 2 but with less arm weakness, relative preservation of the muscle stretch reflexes, and normal sensory examination.2761 See hereditary motor and sensory neuropathy, neuronal form, and hereditary motor neuropathies (variants).
distal spinal muscular atrophy with a hoarse voice See hereditary motor neuropathy (variants).
distal spinal muscular atrophy with vocal cord paralysis See hereditary motor neuropathy (variants).
distal vacuolar myopathy A severe generalized myopathy affecting distal muscles of the hand at first, and later the bulbar muscles. Sensory functions and muscle stretch reflexes are normal. The condition is described in patients with nephropathic cystinosis who have received renal transplants.1112
distance receptors Those receptors which respond to objects at a distance and upon which the brain is constructed and has evolved. (Sherrington) Generally speaking, the channels are physical rather than chemical.
movements occur in the evening and night rather than in the morning and in which patients may show evidence of Parkinsonism.4834, 5709 The condition may be a variant of dopa-responsive dystonia since it also responds to levadopa and to distance shortening In patients with bromocriptine in low dosage. See also pyramidal lesions, the distance that the subject dystonia. extends the paretic arm away from the nose in the finger-nose test progressively shortens with divaricate (Lat, to stretch apart) repeated cycles. This may be a useful early sign Separate. of an upper motor neuron lesion.5066 divebomber sound The decrescendo distant toe flexor reflex (Schrijver– whine of myotonic discharges heard on the Bernhard reflex) Plantar flexion of the toes in EMG machine’s loudspeaker. Those who response to a tap given to a distant part of the have had the dubious privilege of hearing body, sometimes seen in patients with both, however, consider that the sound of a extrapyramidal but not with pyramidal receding motor cycle provides a closer lesions.6656 The mechanism of the sign is not comparison. known and its clinical significance is dubious. divergence (from Lat, apart þ to incline) Separation from a common point. distant wounded glioma syndrome A tumor-induced divergence nystagmus A form of coagulopathy, leading to hemorrhage within the cavity of partially resected tumors such as nystagmus complicating congenital multifocal glioblastoma multiforme or within adduction palsy or hindbrain lesions such as the Chiari malformation, in which the distant tumor nodules following surgical affected eye moves into abduction on resection, even though the distant sites were not directly manipulated during the surgical attempted adduction. The associated nystagmus is of jerk type, the fast procedures. It is postulated that because of component of the two eyes being to their their rich vascularity, these distant tumor respective sides. nodules are more susceptible to hemorrhage, resulting from coagulation changes after tumor resection, than are other sites.3510 divergence paralysis See dorsal midbrain syndrome. distortion An instrumental alteration in Divers Alert Network (Duke waveforms on EEG or EMG recordings. University, Durham, NC) A central facility disturbance (from Lat, to put in disarray) offering advice on the management of diving accidents. Tel: 919-684-8111 An interference with the normal physiological functions of the body or of a part of it. divination (from Lat, to foresee) Prognostication without medical evidence. disturbance in visual orientation See visuomotor ataxia. diving headache That headache form disuse atrophy The reduction in size of occurring in association with scuba and other a body part when its function is impaired as a diving activities. Diagnostic criteria have been defined as follows: result of disease. The histological changes accompanying this are minimal, but A. Headache (no typical characteristics atrophied groups of fibers may be found in known) fulfilling criteria C and D some muscles.4926 B. Occurring after diving to depths below
diurna(l) (from Lat, a day) 1. Daily. 2. In the daytime.
diurnal dystonia (dystonia with marked diurnal variation) A dominantly inherited condition in which dystonic
10 m (2 atmospheres of pressure) C. Headache develops during diving and is accompanied by at least one of the following symptoms of CO2 intoxication in the absence of decompression illness: 1. Light-headedness 2. Mental confusion
divisional paresis 3. Dyspnea 4. Flushed feeling in the face 5. Motor incoordination D. Headache resolves within 1 h after treatment with 100% O2
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dogmatics An ancient Greek sect of
physicians who attempted to discover the causes of disease by using reasoning and recommended the study of anatomy and the basic sciences. Their opponents, the Empirics, denied the value of such study.5103 From the International Classification of Only when curriculum committees are Headache Disorders (Headache Classification composed of members of these two sects in Committee of the International Headache equal numbers is a Dean able to exert some Society. Cephalalgia 2004;24[Suppl 1]). influence on the teaching methods employed Reproduced by kind permission of Dr. Jes Olesen, the International Headache Society and within the medical school. Wiley-Blackwell Publications.)
Migraine, tension-type headache, primary exertional headache, cervicogenic headache, supraorbital neuralgia, external compression headache, and cold-stimulus headache may also be precipitated by immersion in deep/cold water.
dolichocephaly (Gr, long þ head)
A developmental defect in skull shape, in which there is abnormal length of the head in its anteroposterior diameter, due to premature fusion of the sagittal suture. In lesser degrees, this also represents one physiological skull shape as defined in 1842 by Anders Adolf Retzius (1769–1860), a divisional paresis Weakness of the Swedish anatomist, on the basis of the cranial muscles supplied by the superior or by the index; the length:breadth ratios were said to inferior branches of the III cranial nerve. The causal lesion will usually be found in be in the proportion 9:7 or more. The the anterior cavernous sinus (where the two converse form, in which the skull is divisions separate) or in the posterior orbit, abnormally wide, is brachycephaly. but may be in the brainstem. The superior division innervates the levator palpebrae dolichoectasia (dilatative superioris and the superior rectus (in the arteriopathy) An increase in the length latter case by fibers from the contralateral and diameter of an intracranial artery side), while the inferior branch supplies the (especially the vertebral and basilar arteries) inferior and medial rectus, the inferior with degeneration of the internal elastic oblique, and the iris sphincter.3578 laminae. Intracranial arterial dolichoectasia is a condition in which such enlargement and tortuosity exists in vessels coming off the Divry–van Bogaert syndrome circle of Willis, sometimes severe enough to (familial capillary-venous leptomeningeal produce fusiform aneurysms. The resulting angiomatosis) See van Bogaert syndrome. reduced flow can lead to stagnation of blood, dizziness A disturbance in the sense of a thrombus formation, and stroke. Atherosclerosis is the most common person’s subjective relationship to the cause, but it is also seen in Fabry disease, the exterior environment (subjective awareness Ehlers–Danlos syndrome, and Marfan of instability) resulting from impairment of syndrome. Its clinical features reflect the proprioception, vision, vestibular function occurrence of stroke, local compression of or global cerebral blood flow, and used in the neurological structures by the enlarged vernacular for vertigo, light-headedness, vessels, or increased intracranial faintness, and the awareness of being liable pressure.3082 The diameter of the descending to fall. thoracic aorta may also be increased in these patients.1013 DNPH reaction See dinitrophenylhydrazine reaction. Dollinger–Bielschowsky
dolls-eye sign See Cantelli sign. doll’s eyelids Reflex opening of the eyelids when the neck is briskly flexed in comatose patients; a phenomenon largely confined to cases of subarachnoid hemorrhage with stupor.2086 This is the only one of the commonly described ‘‘doll signs’’ in which the clinical phenomenon is actually the same as that seen in the toy.
doll’s head response See oculocephalic reflex.
dolor capitis/cephalicus (Lat,
pain þ of the head) Headache.
Dolman–Delcato treatment An exclusive system of treatments involving passive exercises, promoted for the management of children suffering from brain damage and other conditions but condemned due to the lack of scientific substantiation provided by its proponents.163
dominance The particular responsibility for a function invested in one or other of the cerebral hemispheres, a concept remarked upon by Marc Dax in 1836 where even Gall was silent. (Gall had localized speech functions in the anterior part of the frontal lobes by 1819 but made no comment about lateralization.) It was introduced as a truth by Broca in 1865, who correlated aphasia, right-handedness, and lesions of the left hemisphere.532 Deficits which indicate dominant responsibilities of the left hemisphere are disorders of gesture; ideational and ideomotor apraxias; agnosias for reading and writing, objects, and colors; and somatognosis; bilateral asomatognosia also follows a left hemisphere lesion. Hughlings–Jackson made the perceptive comment in 1864 that if ‘‘the faculty of expression resides in one hemisphere, then there is no absurdity in raising the question as to whether perception—its corresponding syndrome See neuronal ceroid opposite—may not be seated in the other.’’ Doctrine of the Nerves The phrase lipofuscinosis. Indeed, nondominant hemisphere lesions do of Thomas Willis denoting ‘‘neurology,’’ lead to visuospatial disturbances, including adopted by Spillane for his masterly review dolls-eye movements See unilateral asomatognosia, dressing apraxia, 5978 of the history of this subject. oculocephalic reflex. some forms of dyslexia, dysgraphia, and dyscalculia, and the inability to recognize DOES Acronym for disorders of excessive doll’s eye response See oculocephalic faces (prosopagnosia) as suggested first by Hughlings–Jackson, who also correctly sleep. reflex.
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assigned to the right hemisphere a role in automatic and emotional speech. Babin´ski noted first the occurrence of anosognosia following right hemisphere lesions in 1914, while Dide1637 considered that visuoconstructive disorders (constructional apraxia) reflected a posterior right hemisphere lesion.
MRI shows diffuse white-matter involvement. No biochemical or gene deficits characteristic of other leukodystrophies are present.2229
dominant low-frequency hearing loss A dominantly inherited
syndrome with variable penetrance, characterized by moderate low-frequency dominant albinism and hearing loss appearing at any time in life, congenital deafness (Tietz syndrome) with slow progression to moderately severe deafness involving all frequencies but with A dominantly inherited syndrome of complete albinism except for the optic fundi normal vestibular function.3526 and irides; scanty eyebrows; and congenital severe neural hearing loss.6319 dominant knuckle pads,
leukonychia, and hearing loss dominant anhidrosis and progressive hearing loss A dominantly inherited syndrome of congenital anhidrosis with progressive neural hearing loss in middle age.2852
(Bart–Pumphrey syndrome) A rare, nonprogressive, dominantly inherited syndrome characterized by congenital leukonychia, childhood onset of knuckle pads, progressive neural deafness, and diminished vestibular responses.425, 3526
dominant ataxia See cerebellar ataxias.
dominant mid-frequency hearing loss A dominantly inherited
dominant basal ganglion calcification See striatopallidal
syndrome characterized by progressive midfrequency hearing loss in childhood and eventually loss at all frequencies, especially calcification. high tones, but with normal vestibular 4115 dominant cerebellar ataxia plus function. See cerebellar ataxias (variants).
dominant otofaciocervical abnormalities A dominantly inherited syndrome characterized by hypoplasia of the maxillofacial complex, preauricular pits and fistulas, hypoplasia of the cervical muscles, resulting in lowering of the shoulder girdle, and conductive hearing loss.1963
dominant photomyoclonus, hearing loss, diabetes, and nephropathy A dominantly inherited condition characterized by neural deafness in association with bilateral neurofibromas of the VIII cranial nerve (usually unassociated with other evidence of neurofibromatosis), and seizures.2876
dominant preauricular pits and neural hearing loss A dominantly inherited syndrome with variable penetrance, manifesting mild-to-severe progressive neural hearing loss with onset in childhood or youth, unilateral or bilateral preauricular pits, and unilateral or bilateral branchial fistulas in a few cases.2162
dominant progressive nerve deafness A dominantly inherited
syndrome characterized by childhood onset of a progressive symmetrical neural hearing loss beginning with high frequencies and dominant muscular dystrophy leading to moderately severe hearing loss in with humero-pelvic distribution later life.6033 dominant congenital severe A slowly progressive myopathy presenting deafness A dominantly inherited syndrome characterized by congenital severe with humero-pelvic weakness and dominant saddle nose, myopia, contractures in childhood and deafness but normal vestibular cataract, and hearing loss cardiomyopathy after the age of 20. The responses.3526 (Marshall syndrome) A dominantly syndrome is dominantly inherited but inherited syndrome consisting of myopia, dominant hand weakness with otherwise resembles the Emery–Dreifuss cataracts, saddle nose, and early-onset form of X-linked dystrophy.2011 sensorineural deafness A rare progressive neural deafness.4111 congenital familial syndrome of unilateral or bilateral neural deafness with contractures of dominant myopia, hearing loss, dominant stroke-like episodes the digits and wasting of all the small hand peripheral neuropathy, and and leukoencephalopathy A muscles. Flexion creases are absent over the skeletal abnormalities dominantly inherited syndrome interphalangeal joints, and there is a single syndrome See Flynn–Aird syndrome. characterized by recurrent subcortical vertical palmar crease. There is no stroke-like episodes in adult life, and with abnormality on X-ray studies of the affected dominant nephritis and hearing leukoencephalopathy, muscular lipidosis, hand joints.6059 and immunological abnormalities.6362 loss See Alport syndrome.
dominant leukodystrophy with cerebellar deficits and spastic paraparesis A dominantly inherited
dominant optic atrophy A
syndrome with adult onset, characterized by ptosis, ophthalmoplegia, optic atrophy, ataxia, nerve deafness, and myopathic disorder with onset in early childhood, showing progressive spastic paraparesis with weakness.6376 cerebellar deficits and mild mental deterioration, and the subsequent appearance dominant osteosclerosis See of limb spasticity. It results in severe hyperostosis corticalis generalisata disability by the fourth decade of life. Brain congenita.
dominant unilateral deafness A dominantly inherited syndrome with variable penetrance, characterized by congenital moderate to severe unilateral or bilateral hearing loss and normal vestibular function.5900 domoic acid encephalopathy A syndrome comprising of acute
Donaldson syndrome gastrointestinal upset followed by neural hyperexcitability and chronic loss of function following the ingestion of domoic acid, a naturally occurring excitatory neurotoxin which is related to glutamate and which caused an outbreak of poisoning in Canada in 1987 through the ingestion of cultivated mussels. Initial symptoms include abdominal discomfort, vomiting, diminished consciousness, short-term memory loss, confusion, headache, seizures and myoclonus, autonomic disturbances, and variable pareses, including ophthalmopareses. In the long term, the anterograde term memory loss and chronic anterior horn cell lesions may persist.2484, 6246
Donaldson syndrome (nephrolithiasis-mitochondrial cytopathy) A congenital dysmorphic syndrome also manifesting as short stature, cataract, retinitis pigmentosa, strabismus, cardiomyopathy, nephropathy, diabetes, red cell abnormalities, cerebral atrophy, seizures, ataxia, and distal myopathic weakness.381
Donner muscular dystrophy See congenital muscular dystrophy.
Donohue syndrome A rare, autosomal recessive, congenital encephalopathic, and dysmorphic syndrome characterized by facial and generalized hirsutism, marasmus, hypoglycemia, hypotonia, microcephaly, prenatal growth defect, failure of bony maturation, lipodystrophy, enlarged genitalia, and mental and motor delay. It usually leads to death in infancy.1689 See leprechaunism. DOOR syndrome See deafness– onychodystrophy-onycholysis-retardation syndrome.1001 Doose syndrome See centrencephalic myoclonic-astatic epilepsy. dopamine A neurotransmitter with particularly high levels in certain neurons of the neostriatum, derived from L-dopa by dopa-decarboxylase and greatly reduced in Parkinsonian syndromes. dopamine dysregulation syndrome A condition described in some treated patients with Parkinson
300
disease or in those addicted to amphetamines dorsal columns (Lat, of the back) or cocaine, manifest by punding, a tendency (posterior columns, Goll columns, Burdach to gamble, and hypersexual behavior. columns) Symmetrical pathways ascending on the posterior aspect of the spinal cord and terminating in the gracile and cuneate dopamine receptors D1 and D2 nuclei. receptors are recognized, the former Their functional responsibilities are still stimulating and the latter inhibiting disputed, but selective section in humans adenylate cyclase and both together thus leads to loss of the ability to carry out tasks in regulating dopamine metabolism. which simultaneous spatial and temporal analysis of the stimulus is required, such as dopa-responsive dystonia (autosomal dominant torsion dystonia, dopa- figure identification; however, sensations of sensitive progressive dystonia of childhood, pressure, localization, passive movement, and speed of movement remain intact.6606 dystonia musculorum deformans, dystonia with marked diurnal variation associated dorsal enteric cyst See neurenteric with biopterin deficiency, fluctuating dystonia, hereditary Parkinsonism–dystonia, cyst. hereditary dystonia–Parkinsonism syndrome of juvenile onset) A dominantly inherited (or dorsal foot response recessively inherited or sporadic) variant of (tarsophalangeal response, Mendel– idiopathic (torsion) dystonia, due to a Bekhterev response 1) Plantar flexion of the mutation of the GCH1 locus on 14q22, toes, seen in patients with pyramidal tract manifesting lower limb dystonia and gait lesions when the lateral aspect of the dorsum disorder in children before the age of 12 of the foot is struck. years, although tremor, myoclonus, axial dystonia, and cervical dystonia may be dorsal interosseous syndrome prominent clinical features too. Typically See posterior interosseous syndrome. symptoms worsen as the day progresses. Unusual responsiveness of the symptoms to dorsal midbrain syndrome oral levadopa in low dosage and the frequent 1. (Parinaud syndrome, pretectal syndrome, presence of Parkinsonian features, at least Sylvian aqueduct syndrome, Koerber–Salus– 4724 later in life, are notable. See also dystonia Elschnig syndrome, syndrome of the and Segawa dystonia. posterior commissure) The association of impairment of voluntary vertical gaze, dopa-sensitive progressive especially upward; skew deviation; paralysis dystonia of childhood See of upward and sometimes of downward dopa-responsive dystonia. saccades and of pursuit; convergenceretraction nystagmus on attempted up-gaze; ptosis; eyelid retraction (Collier sign); Doppler, C.J. (1803–1853) Austrian mathematician and professor of experimental corectopia iridis; spasm and paralysis of accommodation and convergence; and physics at Vienna. light-near dissociation of the pupillary 277 Doppler effect When a source of sound response. The syndrome is commonly caused by is approaching an observer, the wave length tumors of the pineal region or by intrinsic of the sound decreases and so the pitch lesions of the dorsal midbrain. Reflex eye increases. This effect is used in angiology, 361 when ultrasound waves are reflected toward a movements are relatively preserved. However, paralysis of up-gaze is probably a transducer by the moving column of blood, result either of bilateral lesions within the which allows both an estimate of the speed of pretectum or of sectioning the posterior the blood flow and (with the aid of certain commissure.4898, 4899. The best of the scanning devices) generation of a twooriginal descriptions was that of Salus,5517 dimensional map of the anatomy of the a pupil of Elschnig. reflecting surfaces. 2. Benedikt syndrome has also been Doppler’s original experiments which led to the discovery of the effect were conducted known by this name. with the assistance of the brass section of the Vienna Symphony Orchestra, which played dorsal rhizotomy Surgical section of while on a rolling railroad flat-car. posterior roots, used formerly for pain
Down, James Langdon Haydon
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control and currently under investigation as a treatment in cerebral palsy.
dorsal root entry zone lesions (DREZ lesions) Surgical lesions placed in the dorsal root entry zones in order to alleviate deafferentation pain.4595
dorsal tegmental syndrome See dorsal midbrain syndrome.
dorso-cuboidal sign See Mendel–Bekhterev sign 2.
dorsolateral frontal epilepsy (Lat, of the back and of the sides) (dorsolateral region seizures) Tonic (less commonly clonic) seizure patterns with versive eye and head movements and speech arrest.1861 dorsolateral midbrain syndrome A vascular brainstem syndrome characterized by rubral tremor, ipsilateral Horner syndrome, and contralateral anesthesia for all modalities. It is due to infarction of the mesencephalon supplied by a short circumferential artery.
dorsolateral region seizures See dorsolateral frontal epilepsy.
dorsum The vertebral column or the back of any body part. Dostoevsky, Fyodor Mikhailovitch (Dostoiewsky) (b. 1821) Russian novelist who suffered from epileptic seizures of various kinds, including some heralded by ecstatic auras. A number of the characters in his books (e.g., The Idiot) are similarly afflicted.2306 Dostoevsky, commenting on the pleasurable sensations as the first expression of some of his seizures, wrote that he would have given all that he had for the enjoyment of another.94
double cortex sign See band heterotopia.
Double Letter Cancellation Test An instrument used to evaluate the
presence and severity of visual scanning deficits and to evaluate unilateral spatial coexistence of compressive lesions in tandem neglect in near extrapersonal space. along the course of a nerve, theoretically producing a deficit where either of the two double-stimulation evoked lesions would not have caused it alone. responses A technique for assessing An example would be compression of the cerebral cortical excitability by means of C6 or the C8 nerve roots in association with a giving double stimuli at varying short mild carpal tunnel syndrome, producing a interstimulus intervals; in some forms of sensory or a motor variety of the syndrome, cortical reflex myoclonus, there is marked respectively, in each case as a result of serial enhancement with the second stimulus of constraints of axoplasmic flow in nerve the pair when the interval between them is fibers.6451 60–100 ms. Unfortunately, although it is logical and inherently likely, there is no evidence that doublet See double discharge. the phenomenon exists5284 (although absence of proof is not proof of absence). doughnut sign The ring of isotope uptake seen on radionucleide brain scans in double discharge (doublet) The cases of necrotic tumor, abscess, or appearance of two motor unit action (occasionally) cerebral infarction. potentials or fibrillation potentials of similar form and amplitude, occurring consistently Down, James Langdon Haydon in the same relationship to one another at 19 (1828–1896) English physician who trained intervals of 2–20 ms. See also paired initially as a pharmacist and so entered discharge, multiple discharge, and triple medical school late, but graduated with discharge. honors. He was eventually appointed to the staff of the London Hospital, where he double panda sign The presence of lectured mainly on therapeutics, and to the both the face of the giant panda sign and the staff of the Earlswood Asylum, where he panda sign on the MRI of a patient with organized a model unit for the care of the Wilson disease. mentally retarded. He championed the cause of establishing humane and productive care double saccadic pulse A saccadic for mentally retarded people for the whole of intrusion into ocular fixation characterized by the presence of two back-to-back saccades without any intervening delay, occurring in single pairs or in runs. The condition represents a diluted form of ocular flutter.35
double crush syndrome The
double whammy The ability to cause protrusion of one or both of the eyes at will, the upper and lower lids being withdrawn behind the coronal equator of the eye.577 double-cortex syndrome See diffuse cortical dysplasia and heterotopias.
double athetosis Abnormal myelination of the basal ganglia due to anoxic birth injury, giving them a marbled appearance. The clinical syndrome comprises dystonia, choreoathetosis, speech disturbances, pyramidal dysfunction (cerebral palsy), seizures, and mental retardation.4805 See also Vogt syndrome, etat marbre´, status marmoratus, and status dysmyelinatus.
double-elevator palsy A congenital anomaly consisting of paresis of the two muscles (inferior oblique, superior rectus) controlling elevation of one eye as the result of a pretectal lesion in the brainstem on either side,3793 causing a supranuclear paresis of monocular elevation.496 The same may occur in adult life as a result of a small pretectal vascular lesion.
Figure D–4 James Langdon Haydon Down.
Down syndrome his life. The syndrome named for him was described briefly in 1866 (in the same year as a similar report on this syndrome was published by Se´guin in Paris) but in full detail in his Lettsomian lectures to the Royal College of Physicians in 1887. Down tried to classify mental defectives on the basis of their regression from one of the five ethnic groups to another and he considered that ‘‘a considerable proportion can be fairly referred to one of the great divisions of the human race other than the class from which they have sprung.’’ Thus he tried to classify subjects as regressing to the Europoid (‘‘Caucasian’’), Ethiopian, Malay, American, or Mongolian races, substantially on the basis of their facial appearance.
Down syndrome (trisomy 21, mongolism; OMIM 190685) A genetically determined syndrome comprising amentia, growth deficiency, and abnormal morphogenesis existing as a result of either of two abnormalities—trisomy of chromosome 21 or translocation of chromosomal material (D/G or G/G) onto that chromosome. The hallmarks of the disorder are mental retardation; a characteristic facial appearance with small skull, flat occiput, fissured tongue, epicanthic folds, short flat nose, small ears, and eyes slanting upward laterally; an increased incidence of congenital cardiac lesions; and skeletal abnormalities such as a short broad neck and limbs, broad flat hands, an incurving little finger, and a single transverse palmar crease. Hypogonadism is common. Ocular features include hypertelorism, strabismus, high myopia, Brushfield spots (yellow spots on the irides), and cataracts. Infantile spasms and mixed seizures are also reported. The incidence of the trisomic form increases with maternal age. Those afflicted who live on to the fifth decade develop a syndrome that is clinically and pathologically indistinguishable from Alzheimer disease; the import of this for the understanding of the latter condition is appreciated. The condition was described in 1866 by James Langdon Down, who named it ‘‘Mongolism.’’1701 The American National Down Syndrome Society Web page is at: http:// www.ndss.org/.
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involuntary vertical jerk nystagmus overriding fixation and due to dysfunction of central vestibular systems. Clinically, the fast component beats downward. It is present in the primary position, but is typically increased by lateral gaze or convergence. Its presence strongly suggests the existence of disease of the central vestibular connections; it may occur with the Chiari malformation, but other lesions at the cervicomedullary junction such as dolichoectasia of the vertebral artery; cerebellar ataxic syndromes such as episodic ataxia type 2, and paraneoplastic conditions and intoxications (e.g., lithium) can also be responsible.2704, 5731 See also ocular dipping. In clinical practice, patients complain of blurred vision and oscillopsia (worse on lateral gaze), unsteady gait and to-and-fro vertigo. Cerebellar signs are usually present. In variant inherited forms, vertical nystagmus and ataxia are the main features381 or the condition occurs only periodically, perhaps in association with thiamine deficiency.1719
downbeating fixation nystagmus See downbeat nystagmus.
dragging monoplegic gait An abnormal gait pattern in which the whole leg is dragged as a single unit behind the patient, without circumduction of the hip but frequently with rotation at the hip and/ or inversion or eversion of the ankle. The phenomenon is regarded as evidence of a functional disorder.6074 drainage headache See post-lumbar puncture headache.
Drake, Charles G. (1920–1998) Canadian neurosurgeon who studied at the Universities of Western Ontario and Toronto and with Fulton at Yale. Though self-described as ‘‘just a simple surgeon poking at the edges of knowledge,’’ he was a brilliant technician, an incisive thinker, and an accomplished administrator as the first chairman of the Department of Clinical Neurological Sciences at the University of Western Ontario. He is best remembered internationally for his approaches to the management of aneurysms, particularly those in the posterior fossa, taking these procedures ‘‘from the realm of the daring to the domain of the routine’’ (Hachinski).
Dravet syndrome (severe myoclonic epilepsy in infancy, epilepsy with polymorphic features) An epileptic encephalopathy of infancy and childhood; a channelopathy due to a de novo mutation in the gene encoding the a1 subunit of the Naþ channel SCN1A. It is characterized by early infantile febrile clonic convulsions; afebrile generalized or unilateral clonic nocturnal downgaze paralysis, ataxia, seizures, myoclonic jerks, atypical absences, foam cell syndrome (DAF syndrome) and complex focal seizures in the first year of See sphingomyelin storage disorders. life in apparently normal infants; these are later followed by myoclonus and other Dracula’s teeth syndrome A seizure types persisting into adulthood. syndrome of facial pain, ipsilateral facial Precipitants include fever, hot baths, photic dystonia, and phantom supernumerary and pattern stimulation, movements, and (canine) teeth, beginning after a dental eye closure. The inter-ictal EEG shows 3141 procedure. slowing of background activity with frequent and severe generalized polyspikesDracul disease See porphyria. The slow waves and 2 Hz spike-slow waves. mythical Romanian character Dracula was Multifocal abnormalities of spikes and slow depicted as suffering from this disease. waves are common. The seizures are usually accompanied by a dracunculiasis A nematodal infection slowing of psychomotor development and marked cognitive impairment and occurring in the poopulation of Asia and Africa in which the infestation rarely leads to behavioral disturbances. See severe myoclonic epilepsy in infancy.1711, 4882 mononeuropathy resulting from downbeat nystagmus (downbeating compression, abscesses (including extradural Myoclonic epilepsy in infancy (formerly abscesses), and scarring.346 fixation nystagmus) A form of acquired ‘‘benign myoclonic epilepsy in infancy’’) is a downgaze palsy Selective impairment of downward gaze, following damage to the fasciculus retroflexus in the subthalamic region, usually due to embolic infarction in the territory of the posterior thalamosubthalamic artery.2705 Paralysis of horizontal gaze may accompany this.
dropsy
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milder but still not benign form of Dravet syndrome. Seizures may occasionally be reflex (i.e., touch).1861
insufficiency, colloid cyst, etc.), causing brief interruption of the functions of the reticular activating system. In the latter cases, brief alteration of consciousness may occur, however. Drayer syndrome A congenital The term was introduced by Sheldon5777 dysmorphic syndrome manifesting also short Drew family disease A dominantly to describe a sudden, unheralded fall to the stature; hirsutism; strabismus; inherited syndrome with early adult onset, ground, usually in the elderly, without blepharophimosis; genital, skeletal, and characterized by progressive euphoria, optic alteration in consciousness or any post-ictal dermal lesions including absence of atrophy, lost up-gaze, nystagmus, pyramidal residuum and with immediate righting. See phalanges; and atrial septal defect with also otolithic crisis. microcephaly and mental and developmental and cerebellar signs, Parkinsonism, loss of light touch, and impaired sphincter delay.381 control.2015 The condition may be a form of drop finger Weakness of extension of a olivopontocerebellar atrophy. digit at the metacarpophalangeal joint due dream A train of thoughts, images, or to a lesion of the posterior interosseous nerve, fancies passing through the mind during drift The tendency for a limb to sink slowly with resulting pareses of the extensors rapid eye movement (less often non–rapid when held horizontally against gravity. The indicis, digitorum, and pollicis. Drop eye movement) sleep. The history of thumb and drop wrist have similar mankind’s attitude to and interpretation of sign is examined with the patient’s eyes closed and his arms held straight out in front connotations. the significance of dreams has been of him. Drifting downward occurs within reviewed.5605 15 s or so in patients with cerebellar disease, but also in those with weakness of shoulder drop seizure Abrupt loss of postural dream anxiety attacks The tone without any change in the sensorium, flexion, contralateral parietal lobe disease, occurrence of an awakening from rapid eye occurring as a manifestation of a seizure and disease of the shoulder joint. movement sleep with full factual recall of a discharge (‘‘astatic seizure’’ in the words of disturbing dream and with subjective and Drilled Word Span Test A test of Ramsay Hunt). autonomic evidence of marked anxiety or memory wherein the subject learns to disquiet such as tachycardia, sweating, and criterion a list of words one shorter in length drop wrist Inability to maintain tachypnea. (See also sleep disorders and than his forward digit span; his delayed extension of the wrist, such that it falls into a nightmares.) recall is tested after further unfilled or filled position of flexion, as with paresis of the radial intervals.4332 extensor muscles of the wrist and fingers. dreamy state The epileptic manifestation described by Hughlingsdromedary gait A rolling, highdropped head syndrome Jackson in his paper ‘‘On a Particular Variety stepping gait with protrusion of the (Suarez-Kelly syndrome) Involuntary of Epilepsy,’’3127 in which he expanded on buttocks due to excessive lordosis, seen in forward flexion of the neck as a result of the ‘‘intellectual aura’’ (a term which he dystonic patients. particular weakness of the neck extensor disliked) in which smell, taste, reminiscence muscles6113 as in myasthenia gravis, (de´ja vu), and epigastric sensations may droopy shoulder syndrome facioscapulohumeral dystrophy, occur in company with chewing movements A syndrome of women characterized by and a defect (though not a loss) of the association of low-set shoulders; long polymyositis, amyotrophic lateral sclerosis, consciousness. neck (as shown by the appearance of T2 carnitine deficiency, nemaline myopathy, chronic inflammatory demyelinating He first described this condition in 1876 on lateral cervical radiographs); pain in in a physician, Dr. Z, who was Jackson’s the neck, shoulder, chest, arms, or hands polyneuropathy, focal steroid-responsive neighbor and patient. In 1898 Dr. Z died made worse by downward traction of the myositis, and in severe hypokalemia. Some shoulder girdle weakness may also be noted. from an overdose of chloral, and there was arms and alleviated by elevation of the found at autopsy a small patch of softening shoulders; and a positive Tinel sign over Similar weakness of the thoracic paraspinal muscles may cause ‘‘bent spine syndrome.’’ in the left uncinate region. Jackson applied the brachial plexus. the term uncinate fits to this form of epilepsy There are no hard neurological or vascular EMG of the paravertebral muscles may either neurogenic or myogenic in 1899. See also affective-psychic seizures. signs and EMG and nerve conduction study suggest4753 disease. See also camptocormia. 6167 findings are normal. Cervical dystonias can produce the same dressing apraxia Impairment in effect, but due to active contraction of the fitting the form of a garment to the form of drop attacks Sudden weakness of the neck flexor muscles rather than weakness of the body, in the absence of significant motor legs without loss of consciousness and the extensors. causing an immediate fall to the ground; or sensory impairment; and usually vision, hearing, and speech remain associated with a right-sided or bilateral parieto-occipital lesion producing neglect of intact.The attacks may occur as a result of dropsy (short for hydropsy: from Lat, myoclonus, abrupt cortical inhibition, left-sided space and with impairment in watery) An abnormal accumulation of cataplexy, or impairment of the integrity of fluid. Thus cerebral dropsy is visuospatial judgment (visuospatial brainstem structures (vertebrobasilar agnosia).799 hydrocephalus. Despite the name, the condition is not truly an apraxia. It was known to Hughlings-Jackson but was first described fully by Brain in 1941. See apraxia for dressing.
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drowsiness (Saxon; sluggishness) The earliest stage of that physiological depression of consciousness which is likely to lead on to sleep.
in numerous diseases of the choroid. They usually appear in early adult life and are symptomless unless there is secondary macular degeneration.3564 2. The same, seen on and in the region of the optic disk, where their presence causes drug holiday A period of transient (up to elevation of the disk head (and thus the 7 days) drug withdrawal during obliteration of the cup and the appearance of hospitalization, as used in some patients papilledema, especially if prepapillary with complications of long-term levadopa hemorrhages are also present2921). Arcuate therapy, in an attempt to enhance motor scotomas may also be found. See performance and to diminish these side pseudopapilledema. effects.6695 3. Senile plaques (in the German Although successful to a degree in literature). achieving these goals for a limited period after the restoration of therapy, the re´gime is D-state See REM sleep (paradoxical associated with the dangers of greatly sleep). decreased mobility during the holiday and is viewed with circumspection by many D-test A composite instrument evaluating physicians. the behavioral and functional activities of demented geriatric patients.2018 drug-induced (refractory)
headache 1. See analgesic rebound headache, ergotamine withdrawal headache, and medication-induced headache. 2. Headaches typically and only occurring following the ingestion of certain agents such as indomethacin, nifedipine, and cimetidine, etc.
dualism (Lat, containing two) The system of Descartes in which he tried to explain all the phenomena of human nature based on the principles of the essential separateness of body and mind. Thus mind here represents more than mere expression of the function of the brain.
drug-induced cerebral arteritis (drug-induced vasospasm) See
Duane, Alexander (1858–1926)
reversible cerebral vasoconstriction syndrome.
drug-induced nystagmus See induced nystagmus.
drug-resistant intractable seizures (OMIM 171050) A rare disorder of the p-glycoprotein mechanism characterized by multiple seizures, unresponsive to anticonvulsants.
Drummond syndrome See blue diaper syndrome.
drusen (from Ger, a rock cavity lined with crystal) 1. Hyaline-like pallid nodular debris derived from the pigmented retinal layers (Brusch’s membrane), perhaps as a result of axonal degeneration. In this dominantly inherited abnormality, the deep yellowish lesions, usually round or oval in shape, are mainly in the posterior polar region of the eye and sometimes widely spread over the retina. They possibly represent a secretion of the abnormal pigmentary epithelium. Drusen are also seen
American ophthalmologist practicing in New York.
Duane syndrome (ocular retraction syndrome, Stilling–Turk–Duane syndrome) A congenital, dominantly inherited brainstem disorder with aberrant innervation of the lateral rectus by the inferior division of the III cranial nerve in the absence of the VI n. nuclei, with maximal clinical effects upon eye movements.1721 The major features are restriction of abduction, adduction, or both. Attempted adduction of the eyes causes globe retraction and narrowing of the palpebral fissure. Esotropia is most common. Although usually unilateral and sporadic, bilateral syndromes can occur and associated congenital malformations are common. Three types are described: type I, in which there is narrowing of the palpebral fissure and retraction of the globe on adduction of the eye, with limitation of abduction; type II, in which there is narrowing of the fissure, retraction, and limited adduction but full abduction; and type III, consisting of deficiency of both ocular abduction and adduction due to fibrosis of the lateral rectus
muscle, leading to retraction of the globe by 2–10 mm with narrowing of the palpebral fissure during attempted adduction. Convergence failure and both brainstem and musculo-skeletal abnormalities may coexist. The syndrome is more common in females. It was first described by Stilling in the German literature in 1887. Variants are as follows: DURS1 (8q13) A sporadic multisystem disorder with weakness of abduction, retraction of the eye, and ptosis with attempted adduction and an association with C2–C3 vertebral fusion (Klippel–Feil), thenar hypoplasia, and deafness. DURS2 (2q31) is a dominantly inherited congenital ophthalmoplegia with absent or reduced abduction and maybe adduction, and retraction of the eye and ptosis with attempted adduction. Okihiro syndrome, a dominantly inherited form consists of the Duane anomaly with radial ray abnormalities and deafness, in which the typical features of Duane syndrome are also accompanied by congenital bony anomalies of the arm and cervical spine.4781 Sal-like 4 (20q, SALL4) is dominantly inherited and is characterized by added features of the Holt–Oram syndrome.7720 Sporadic Duane syndrome (chromosomes 4 or 22) The features of Wildervanck syndrome added to those of the Duane and Klippel– Feil anomalies, with congenital deafness. Bosley–Salih–Alorainey syndrome (7p15, HOXA1) Recessively inherited bilateral Duane syndrome with preserved vertical gaze and convergence, but with added deafness, delayed motor development, and mental retardation. Malformations of the carotids, the skull base, and the ears are other features.
An acquired form is described in patients with brainstem and III cranial nerve pathology. See also Wildervanck syndrome and the Web site http://www.ophthal.org/.
Dubini, Angelo (1813–1902) Italian physician, practicing in Lombardy.
Dubini disease (electric chorea) A rare and fatal form of chorea described by Dubini in 1846, but not now reported; as a result, it cannot in retrospect be classified with confidence. The disease was said to have been marked by spasmodic movements in one limb, progressing to involve others, and sometimes characterized by seizures, progressive paralysis, and muscle wasting.1722
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The nature of the disorder remains uncertain; both a myoclonic form of epidemic encephalitis and hysteria have been suggested as its cause. Though its organicity seems dubious by description, some patients appear to have died from it (or at least with it), and it has been considered by some to be a myoclonic form of epidemic encephalitis. See also Bergeron disease.
DuBois-Reymond, Emil (1818–1896) The father of modern electrophysiology who devoted his whole clinical life to this subject. He was a pupil of Johannes Mu¨ller, whom he succeeded as professor of physiology in Berlin. He demonstrated the polarized state of nerves and muscle fibers and showed that the peripheral passage of a nerve impulse was accompanied by an electrical discharge—the action potential. He was also the first to describe the electrical and mechanical properties of muscle tetanus. His collection of works was translated into English and published by Charles Morgan under the title of Electrophysiology and Therapeutics (New York, William Wood, 1868), a book regarded by most reviewers at the time as being unreadable. His clinical contributions are less well known, but he gave good accounts of the symptoms of migraine from personal experience.
Dubowitz syndrome A congenital dysmorphic syndrome manifesting also short stature, eczema, skeletal abnormalities, ptosis, blepharophimosis, microcephaly, and mental and developmental delay.1729
Duchenne de Boulogne, Guillaume-Benjamin Armand (1806–1875) French neurologist born in Boulogne, who trained in Paris and returned to his home port to practice. After the death of his wife from puerperal fever when their son was 2 weeks old, he retired much from the world and devoted himself to his family practice and to exploring the benefits of electricity in medicine, although he did marry again. He relocated to Paris in 1842 but never obtained a permanent hospital appointment there, although he was accepted on to the services of many neurologists, from whose patients he gleaned and reported on cases of neurological disease in the wards of hospitals all over the city. He was highly
regarded after 1849 for his use of Faradic currents to assist in diagnosis and recorded his experiences in his book De l’electricisation localise´e, of which three editions were published (in 1855, 1861, and 1872).1738 The title is misleading because although the book starts with a description of the method and some results, the greater part is devoted to the other areas in neurology for which Duchenne is better remembered. His presence at the Hotel Dieu and the Salpeˆtrie`re brought him into contact with all of the leading neurologists of the day and he and Charcot held each other in mutual admiration. Duchenne described spinal muscular atrophy as a form of amyotrophic lateral sclerosis (but passed on publication to Aran) in 1849. He described progressive bulbar palsy 9 years later and pseudo-hypertrophic muscular dystrophy first in 1861 and more fully in 1868, the same year as he introduced the technique of needle muscle biopsy, which he had employed in the diagnosis of the boys in his paper and described also therein. The name of Aran is also linked to this condition, but that physician reported on patients with a variety of muscle disorders, some of the patients referred to him by Duchenne himself; Dr. Edward Meryon did, however, describe the condition in England in 1852.7 In his works on muscle diseases he described the dystrophy that bears his name, at least two forms of atrophic paresis in infancy, one likely due to poliomyelitis; and a bulbar and two spinal forms of paralysis in adults. (Guilly, J.P. Duchenne de Boulogne; Paris, Bailliere et fils. 1936.) In other contributions, Duchenne described upper brachial plexus palsy in 1872, some years before Erb’s report; distinguished between upper and lower motor neuron facial palsies; described locomotor ataxia (tabes dorsalis), lead paralysis, and poliomyelitis; and recorded cases of what is now called facioscapulohumeral dystrophy in 1872, 12 years before Landouzy and De´je`rine published their description. Many of his experiments on facial expression requiring apparently painful stimulation of the facial muscles were performed on an elderly man whose face was in fact anesthetic, perhaps due to tabes dorsalis. McHenry4233 describes him as unworldly, naı¨ve, absent-minded, and inarticulate, which may explain why his contributions to many areas of neurology were overshadowed
so completely by those of colleagues such as Charcot, who nevertheless regarded Duchenne as his master in Neurology. He died, still deeply melancholy, 4 years after the death of his son, with Charcot at his bedside.
Duchenne disease See tabes dorsalis. Duchenne muscular dystrophy (pseudo-hypertrophic muscular dystrophy) A progressive and still fatal X-linked recessive disorder affecting young boys in which the affected gene at Xp21.2 on the short arm of the X chromosome fails to produce dystrophin, an essential protein. The same protein is deficient in quantity or altered in composition but not absent in Becker muscular dystrophy, an allelic condition. Boys with Duchenne muscular dystrophy have high levels of creatine kinase from birth and manifest the signs of the disease as soon as they would normally start to walk. Proximal weakness, affecting first the pelvic girdle muscles (see Gowers sign), and fatty replacement of the calf and tongue muscles making them firm and rubbery (‘‘pseudohypertrophy’’) are the leading characteristics. Eventually kyphoscoliosis, areflexia, and cardiac failure occur.1737 A wheelchair is needed by the time patients reach early adolescence and the patients die in their early twenties, usually of pneumonia. The triumphant determination of the site785 and nature of the defect gives some hope that the foregoing description may soon be out of date; if the protein can be synthesized and replaced, the fatal prognosis may be tempered.2935 Duchenne dystrophy was described by him and Aran and by Wilhelm Griesinger (1817–1868) in 1865.2577 A variant is autosomal recessive Duchenne-like muscular dystrophy in which females are affected by a disease exactly mimicking Duchenne dystrophy as a result of inheritance of a different allele for a polymorphism within the dystrophin gene.4230 The Web site http://www.angelfire.com/ band/teja/index_dmd.html reviews the causes, biology, and treatment options.
Duchenne paralysis See progressive bulbar palsy and amyotrophic lateral sclerosis.
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Duchenne sign Indrawing of the
duplex ultrasonography
Dupuytren’s canals The diploic
epigastrium with inspiration, a sign of diaphragmatic palsy.
A noninvasive scanning technique combining b-mode imaging with pulsed Doppler technology to produce an image of blood flow through a vessel. It allows the differentiation of occluded from patent arteries and provides a method of grading the severity of arterial disease based on changes in the blood flow pattern distal to stenosis. Continuous-wave systems give an average of the cross-sectional velocity in the area examined, while pulsed systems enable more discrete examination of the blood flow pattern in the area of disease.4678
spaces in the cranial bones.
Duchenne–Aran disease See progressive bulbar palsy and amyotrophic lateral sclerosis.
Duchenne–Erb palsy See upper brachial plexus palsy.
ductions The movements of one eye, the other being covered. The possible movements are adduction and abduction (toward or away from the nose, respectively); sursumduction (elevation) and deorsumduction (depression); incycloduction (intorsion with the upper pole turned toward the nose); and encycloduction (extorsion with the upper pole turned toward the temple).3762 See also forced duction test. dumb (Saxon; silent) Unable to make articulate sounds.
dumb rabies (paralytic rabies) A form of rabies producing polyneuropathy rather than encephalitis, the latter producing the ‘‘furious’’ form.3724 dumb-bell tumors (hourglass tumors) Extra- and intradural masses joined by a narrow pedicle passing through an enlarged intervertebral foramen at any level. Less commonly, tumors which are wholly intraspinal with intra- and extra-dural masses similarly joined. Many are meningiomas or neurofibromas. dumbness The inability to make vocal sounds. The condition includes aphthongia, alalia, and anarthria. Dunnigan familial partial lipodystrophy An autosomal dominantly inherited laminopathy, whose neurological features include both myopathy and tomaculous neuropathy.6003
Duplay syndrome (frozen shoulder, adhesive capsulitis of the shoulder) Shoulder pain due to soft tissue inflammation and fibrosis, often following cervical injury, stroke, or myocardial infarction1755and limiting rotation and abduction of the shoulder with consequent disuse astrophy of the periscapular muscles.
duplicity theory of vision The contention that color vision is a function of the retinal cone receptors and that gray-scale tones are recognized by the rods.
Dupuytren contracture Contracture of the palmar (Dupuytren’s) fascia with tight bands of fibrous tissue radiating distally under the palm, causing flexion deformities of the fingers.
dura mater (Lat, hard þ mother; the latter as the Arabians considered that all tissues of the body were derived from the meninges) The tough, fibrous outer layer of the meninges enveloping the brain and spinal cord.
dural arteriovenous fistula An abnormal connection between the branches of the external carotid artery and the venous sinuses, sometimes caused by sinus thrombosis. Its clinical presentations include Dupre´, Ernest (1862–1921) French complaints of headache, bruit, and physician. imbalance; cranial neuropathies, ischemic, and hemorrhagic strokes may also occur. Dupre´ syndrome (serous meningitis, Cervical myelopathy is a rare presentation. The fistulae may disappear spontaneously or toxic encephalopathy) A syndrome of meningeal irritation, sometimes progressing may be occluded by arterial compression or embolization.178 to headache, convulsions, diffuse encephalopathic signs, and coma, following distant infection or as an autoimmune Dural Arteriovenous Fistula phenomenon after infection, more Scale An instrument allowing classification commonly seen in children.1756, 5377 See and prognosis of arteriovenous fistulas in parameningeal infections and idiopathic dural blood vessels using two parameters; intracranial hypertension. location of AV fistula drainage and the pattern of blood flow and size of the vein.1226 Dupuy syndrome See gustatory sweating. dural sinus malformation A congenital malformation in which a hugely dilated dural sinus pouch Dupuy–Dutemps and Cestan sign Incomplete peripheral paralysis of the communicates with other sinuses and drains cerebral veins. Arteriovenous shunts are face; when the patient is asked to look commonly associated. forward and to close both eyes slowly, the upper lid on the paretic side moves upward a small amount, due to the action of the Durand–Zunin syndrome The levator palpebrae superioris.5333 association of agenesis of the septum pellucidum, lacunar skull deficits, dysraphism, hydrocephalus, and pes Dupuytren, Baron Guillaume cavus.1762 (1777–1835) French surgeon. Dobson1670 remarked that he ‘‘had a remarkable childhood, being kidnapped when three duration 1. The time during which years old by a rich woman of Toulouse. Was something exists or acts. In returned by her but subsequently taken to electromyography, the interval from the Paris (1789) by a Cavalry officer who took a beginning of the first deflection from the fancy to him.’’ He was educated in Paris and baseline to its final return to the baseline of became surgeon to the Hoˆtel-Dieu and an action potential or waveform, unless professor at the University of Paris, otherwise specified. If only part of the publishing almost nothing and becoming a waveform is measured, the points of the huge success. measurement should be specified. For
dynamite encephalosis
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example, the duration of the M wave may be measured as the negative phase duration and refers to the interval from the deflection of the first negative phase from the baseline to its return to the baseline. 2. The interval of the applied current or voltage of a single electric stimulus. 3. The interval from the beginning to the end of a series of recurring stimuli or action potentials. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.)
Duret, Henri (1849–1921) French neurologist who trained under Charcot, with whom he described the lenticulostriate arteries as the ‘‘arteries of cerebral hemorrhage.’’ He is also remembered for his precise mapping of the territories supplied by the anterior, middle, and posterior cerebral arteries1763 and for noting the brainstem hemorrhages complicating its compression.
Duret hemorrhages Intrinsic bleeding into the upper (rostral) brainstem resulting from its compression, as by the medial part of the temporal lobe in the uncal syndrome.1764 Dutch cerebral hemorrhage (hereditary cerebral hemorrhage with amyloidosis—Dutch type) A dominantly inherited predisposition to multiple large or small cerebral or cerebellar cortical hemorrhages occurring in mid-adult life, arising from a mutation at chromosome 21q21 and leaving as residua focal and global impairments and, frequently, dementia.2655 Subcortical hemorrhages occur later in many cases. In a variant form, the similar Icelandic form, it is not the amyloid precursor protein but cystatin C that is mutated.
Duval’s nucleus A small mass of multipolar ganglion cells situated just ventral to the hypogloossal nucleus in the medulla, described in 1883 by Mathias Marie Duval (1844–1907), a French anatomist.5619 dwarfism with microcephaly and hydrocephaly A congenital dysmorphic syndrome of platyspondyly, microcephaly, hydrocephalus, and callosal abnormalities.381
Verbal generative and verbal planning skills dwarfism with retinal atrophy and deafness See Cockayne syndrome. are normal when the subject is asked to describe pictorial scenes and complex actions. The condition may progress to with papilledema, light compression of the mutism when it occurs, for example, in the of progressive supranuclear eyeball elicits visible pulsations of the retinal context 5339 palsy. arterioles at the optic nerve head, this suggests that the cause is a mass lesion rather dynamic axial brainstem than chronic renal disease and distortion Buckling of the brainstem as a hypertension.1785 result of downward herniation of the cerebrum through the tentorial opening and Dyggve-Melchior-Clausen of third nerve palsy as a false syndrome A heterogeneous, congenital, a possible cause3700 recessively inherited dysmorphic syndrome localizing sign. manifesting skeletal abnormalities, short dynamic EMG See kinesiologic EMG. stature, atlanto-occipital subluxation, platyspondyly, J-shaped sella turcica, and mental and developmental delay.1786 dynamic overshoot (ocular quiver) 1. A form of saccadic intrusion or oscillation characterized by involuntary deviation of the dying-back The process whereby metabolic disturbances of the perikaryon of eye in the direction of gaze, requiring a saccade to restore it to the appropriate the largest and longest axons in peripheral position. 2. A corrective movement nerves lead to a failure of the soma to occurring at the end of a normal saccade and maintain lines of nutrient supply first to in the opposite direction, greater in degree distal and then progressively to more than the normal reversal of direction that proximal regions of its axon.1059 The would be required to bring the eye to a degeneration of the axons starts with the longest fibers and the lesion progresses from halt.3762 distal to proximal. Empires in decay similarly lose first those of their possessions dynamic saccade The fast, first part of which are linked to them by the longest lines the saccadic eye movement. of communication. dynamic spelling alexia The dying-back neuropathy See distal occurrence of spelling alexia with relative axonopathy. sparing of writing and of the identification of letters printed in view of the patient by Dyke–Davidoff–Masson the clinician. This rare condition was detected in a syndrome A congenital dysmorphic syndrome manifesting an asymmetrical face, patient with a large left hemisphere lesion also compressing the corpus callosum.2994 thickening of the cranial vault, overdevelopment of the frontal and ethmoidal sinuses, and elevation of the dynamic vestibular imbalance petrous pyramid of the temporal bone on the Asymmetrical activity of the vestibular side of hemispheric atrophy in children with apparatus apparent only with movement. seizures and hemiplegia.1787 Head shaking and single, rapid head turns are used to demonstrate this. In the former dynamesthesia The appreciation of case, jerk nystagmus is produced, usually force or tension during the performance of a with its slow phase directed toward the side voluntary muscle contraction. of the vestibular lesion. Sudden passive turning of the head with maintained fixation will normally allow fixation to persist; with dynamic (from Gr, power) Relating to vestibular imbalance, deviation will occur strength or force. Sthenic is a synonym. and a corrective saccade will be seen.3762 dynamic aphasia (verbal adynamia) A condition in which spontaneous speech is dynamite encephalosis Headache, markedly reduced in the absence of any sweating, coughing, vomiting, fatigue, syntactical impairment while naming. irritability, depression, and impaired Repetition and reading skills are normal. concentration up to confusion as a result of
Dyel phenomenon If, in a patient
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Babin´ski sign. Truncal ataxia may also be present. The lesion is most often in the upper part of the internal capsule or in the basis 2085 dynamometer (Gr, power þ measure) pontis. It may be impossible to differentiate this An instrument for measuring the strength of syndrome from homolateral ataxia and contraction of muscles. The Mathieu crural paresis or ataxic hemiparesis clinically dynamometer consists of a metal ellipse, the two sides connected by a spring with a scale except that in the latter, dysarthria is not a upon which a pointer rotates to indicate the feature and hemiparesis and sensory changes 2405 See ataxic hemiparesis. force of manual compression applied to the are present. ellipse. Some methods prescribe precise placement of the limbs of the examiner or the dysautonomia Any disorder of the subject in the performance of the tests.6783 autonomic nervous system, sympathetic or parasympathetic, including hyper- as well as dynorphin A peptide neurotransmitter hypofunction. See diencephalic autonomic seizures and primary dysautonomia complex, containing leukoencephalins. (comprising pure autonomic failure, Parkinson disease with autonomic failure, dys- A Greek prefix signifying bad, and multiple-system atrophy). difficult, or painful. http://www.ninds.nih.gov/disorders/ dysautonomia/dysautonomia.htm is a Web dysapocatastasis (Gr, disturbance site providing links to many other sites of þ complete restoration) A feeling of concerned with dysautonomia. morbid discontent with restlessness of mind. The word is not in general usage, but, Dysautonomia Foundation Inc. even though it has seven syllables, it is still A charitable foundation. Address: 633 Third shorter than the definition (which requires Ave., 12th Floor, New York, NY 10017nine words). The disorder must represent one 6706, USA. Tel: 212-949-6644. Web site: of the commoner reasons underlying visits to http://www.familialdysautonomia.org/ physicians and is otherwise unnamed. aboutfd.htm. chronic toxic exposure to glyceryl trinitrate.2331
dysarthria (Gr, difficulty þ a joint) (dyslalia) 1. The indistinct pronunciation of words. 2. A group of speech disorders resulting from disturbance in the muscular control of the speech mechanisms due to damage to the central or peripheral nervous systems. While typically evidence of either upper or lower motor neuron lesions (the latter affecting the V, VII, or the bulbar nerves, the endplates, or the muscles), it may also be caused by local mechanical problems and is heard accompanying dysphasias.1453 Spastic, ataxic, and hypokinetic forms are differentiated, due respectively to corticobulbar, cerebellar, and basal ganglion lesions. Their characteristics have been reviewed.3490 Mechanical and flaccid forms result from local structural and lower cranial motor nerve disorders. In addition, aphasic patients also frequently manifest dysarthria.
medial left frontal lesion is suggested as the necessary cause.3946
dyschondroplasia See Ollier disease. dyschromatopsia (Gr, difficulty þ
color þ sight) Disturbance of color vision; a distortion of the hue or color of objects seen, as though the observer were looking through a colored filter (e.g., erythropsia, xanthopsia) possibly as a result of lesions of the visual cortex or due to toxic disease.
dyscognitive aura Epileptic events in which disturbance of cognition is the prominent or most apparent feature. dyscognitive seizures Those seizures that resemble complex partial seizures, except that there is not always impairment of consciousness and that they do not originate in limbic areas, although mesial temporal limbic areas and their immediate connections are probably involved anyway.7735 dysconjugate Not yoked together; or, in the case of eye movements, not moving in parallel. dyscoria Abnormal pupillary shape, the
dysautonomic cephalalgia A syndrome of posttraumatic headaches associated with excessive sweating and pupillary dilatation due to partial sympathetic denervation, the injury having been to the anterior triangle of the neck.6547 See trigeminal autonomic cephalgias.
pupil being slitlike, oval, hourglass, or irregular. The syndrome is generally benign and may be dominantly inherited.2858
dysdiadochokinesis (Gr, difficulty þ
a follower þ movement) Impairment in the speed, precision, and rhythmicity of rapidly performed movements in alternating directions by virtue of irregularities in their dysbasia lordotica progressiva force and an inability to change rapidly the See dystonia. patterns of contraction and relaxation of the dysbarism See decompression sickness. muscles involved. Rapid repetitive tapping of the back of one hand alternately with the dysbulia Difficulty in the exercise of the palm and the back of the other one is the test most commonly employed. will; mental torpor. When pathological, The term was originally applied by there is also evidence of metabolic disease or of lesions affecting the deep frontal regions. Babin´ski to such a disturbance of coordinated movement in patients with a See abulia. cerebellar disorder. This is still considered to be an important sign of a cerebellar lesion on dyscalculia Disturbance in mental the same side, but pyramidal and basal reckoning and in enumeration and ganglion disease and local factors may calculation on paper, as in Gerstmann dysarthria–clumsy hand produce a similar difficulty. syndrome. syndrome A lacunar syndrome in which In primary dyscalculia, this deficit stands out in comparison to the disturbance in other dysembryoma (neuroepithelioma) mild dysphagia, some dysarthria, tongue skills such as language, memory, attention, A heterogeneous group of primary deviation on protrusion, and clumsiness of the hand are associated with slight ‘‘central’’ or perception, which are equally or more malignant tumors arising from peripheral weakness of the face and arm and a positive obviously affected in secondary dyscalculia. A nerves and characterized by the presence of
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spaces lined by cuboidal or columnar epithelium.3305
dysencephalia splanchnocystica (Gruber syndrome, Meckel–Gruber syndrome) A recessively inherited congenital neurocutaneous syndrome characterized by microcephaly, occipital encephalocele, meningocele, ocular abnormalities and facial clefting, and polydactyly and polycystic kidneys, liver, and pancreas.3, 2182 Micropthalmia, congenital heart defects, cleft lip and palate, internal hydrocephalus, anencephaly, and cerebellar aplasia have also been described.3016 See Gruber syndrome.
behavioral, and emotional factors, and asking for the frequency of occurrence of dysexecutive characteristics such as impaired abstract thinking, impulsivity, confabulation, and planning problems.6812
dysexecutive syndrome
Impairment of goal formulation, planning, execution of plans, and shifting of mental set, frequently in association with dysphasic speech disturbances and impairment of new learning, changes in personality, social skills, and initiative. The syndrome is notable for the retention of general intelligence and of remote memory. It is seen in patients with orbito-frontal lobe lesions or subcortical dementias and in some patients with dysequilibrium syndrome 1. An alcoholism in whom a loss of social control, unusual autosomal recessive syndrome, inability to abstain, and repetitive habitual manifesting the combination of marked behavior are also characteristic.3825 See also motor delay with hypotonia, nystagmus, ataxia, mental retardation, and frequent falls Behavioral Assesment of Dysexecutive Syndrome and the Dysexecutive when at last the child attains the standing Questionnaire, two tests devised to assess position.2677 See cerebellar ataxias. 2. See the magnitude of these problems. dialysis dysequilibrium syndrome.
dysferlin A membrane-based protein separate from the dystrophin-associated resulting from stimuli which are not proteins. Its mutations are responsible for normally painful, in the presence of the dysferlinopathies (LGMD2B and alterations in the quality of other sensations. Miyoshi muscular dystrophy).3454 They occur commonly in the territory of a partially damaged peripheral nerve. Charcot dysferlinopathies Proximal or distal described under this term a distressing pain muscular dystrophies, recessively inherited resembling vibration, which travels up and and appearing in early adult life, resulting down a limb when it is touched or from mutations of the dysferlin gene at 2p125103 stimulated by cold. 2. Dullness or 14. Their presentations include limb-girdle perversion of sensation; this, however, is an dystrophy type 2B, Miyoshi myopathy in older meaning for the word and does not which, unusually for congenital myopathies, represent current usage. 3. Disorders of the serum CK levels are high3454 and distal, senses (Cullen). slowly progressive weakness. Atrophy in anterior (tibialis anterior) or posterior dysesthesia–dysautonomia– (gastrocnemius-soleus) regions occur. See hypertension syndrome A distal muscular dystrophy.5716 syndrome with childhood onset characterized by paresthesias, spontaneous dysgerminoma (atypical teratoma, pains, and autonomic dysfunction. The cause ectopic pinealoma) A tumor of childhood or is not known. youth, arising from cell rests in the anterior dysesthesia 1. Painful sensations
part of the third ventricle or in the suprasellar region, and histologically derived pain resulting from spinal pathology resembling a seminoma or an atypical (such as an intrinsic or extrinsic spinal pinealoma. Typical clinical features are tumor, or transverse myelitis stemming hypopituitarism with growth retardation, from any cause) in which the dysesthesias are diabetes insipidus, and visual field loss.988 in the territory of one or a few dermatomes at the level of the lesion, within a region of dysgeusia A distortion of the sense of altered skin sensation. taste, usually resulting from either the ingestion of toxins, or partial damage to the chorda tympani, or lesions in the brainstem. Dysexecutive Questionnaire As with similar distortions of smell, the A 20-item checklist, measuring cognitive,
dysesthetic pain A form of centrally
distorted taste is always interpreted as unpleasant.
dysglobulinemic neuropathy Motor neuropathies with onset in young adult life, leading to complaints of paresthesia and accompanied by paraproteinemias. See gammopathic neuropathy.
dysgraphia Impairment in the utilization of writing tools, usually coupled with a tendency to malform individual letters and words—a state which may include features of both dyspraxia and dysphasia, especially if there are also semantic and syntactical errors, misspellings, and neographisms. dyshoric angiopathy See cerebral amyloid angiopathy.
dyskinesia (Gr, difficulty þ movement) Abnormal involuntary movements, classified as tremors, chorea and ballism, myoclonus, tics, and dystonias. Paroxysmal dyskinesias have been classified as follows:1573 Paroxysmal kinesigenic dyskinesia Paroxysmal nonkinesigenic dyskinesia precipitated by stress, menses, heat, and fatigue, occurring at any age and often intermixed with choreoathetosis. Paroxysmal exertion-induced dyskinesia characterized by brief episodes of dystonia induced by physical exertion. Paroxysmal hypnogenic dyskinesia characterized by intermittent attacks lasting minutes or less, with onset in early childhood and occurring both by day and at night.
dyskinetic cerebral palsy A form of cerebral palsy in which X-linked inheritance has been found occasionally.379 See cerebral palsy. dyskinetic gait (dystonic gait) No single pattern of movements can be described in patients with dystonias, the picture varying widely, although plantar flexion at the ankle and extension of the hallux are commonly found. dyslalia See dysarthria. dyslexia (from Gr, difficulty þ reading) 1. An innate constitutional difficulty in learning to read; a disorder of phonemic
dyslogia awareness leads to impairment of reading skills in the absence of other disorders of language. 2. That variant of aphasia in which the most conspicuous feature consists of an extreme difficulty in the interpretation of verbal or literal symbols by way of visual channels. Two definitions from the World Federation of Neurology are as follows: dyslexia: A disorder in children who, despite conventional classroom experience, fail to attain the language skills of reading, writing, and spelling commensurate with their intellectual abilities. specific developmental dyslexia: A disorder manifested by difficulty in learning to read, despite conventional instruction, adequate intelligence, and socio-cultural opportunity. It is dependent on fundamental cognitive disabilities which are frequently of constitutional origin.
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See also alexia without agraphia and deep dyslexia.
dyslogia (from Gr, difficulty þ a word) Speech which is normally formed, but the content of which indicates the presence of a disorder of thought.
Chart D–13. Classification of Dysmorphisms I. Cerebrocranial dysplasias Anencephaly Microcephaly Others II. Cerebrofacial dysplasias
dyslysis See restless legs syndrome.
Rhinencephalic dysplasias Oculo-orbital dysplasias (anophthalmia)
dysmetria (from Gr, difficulty þ III. Craniofacial dysplasias distance) 1. The occurrence of errors in a. with clefting judgment of distance when a limb is b. with dysostosis made to perform a precise movement. The c. with synostosis movements usually tested are those of Craniosynostosis extension and withdrawal of the arm with Craniofaciosynostosis Faciosynostosis a finger outstretched, with the intention d. with dysostosis and synostosis of touching successively first the Crouzon examiner’s finger held away from the Cloverleaf skull patient at arms’ length and then the patient’s own nose, repetitively. IV. Craniofacial dysplasias with other origin The condition persists into adult life Classically, the finger overshoots a. Osseous and is far more common in males. There (hypermetria) or undershoots the target b. Cutaneous is no evidence of brain damage or of (hypometria) with disease of the c. Neurocutaneous perceptual defects. Left-handedness or cerebellum, and often shows an action Neurofibromatosis ambidexterity is common and intelligence tremor. 2. See ocular dysmetria. d. Neuromuscular is normal if not high. The principal faults Pierre Robin syndrome Mo¨bius syndrome found include the inability to pronounce dysmetric saccades The ocular e. Muscular an unfamiliar word, or specific vowels or equivalent of limb dysmetria, in which the Glossoschizis consonants; to differentiate between words gaze is not accurately brought to bear upon f. Vascular that are similar in spelling; failure to read the target but over- (or under-) shooting Hemangioma with complete understanding; the occurs, with the need for corrective catch-up Hemolymphangioma omission of phonemes or whole syllables saccades to be made. Either cerebellar or Lymphangioma in words; perseveration and word hemispheric lesions may be responsible.1223 substitution (Critchley M. The Dyslexic When the deviation is in the line of the eye Based upon the classification of Stricker [1990].4 Child. London, Heinemann, 1970). In movement, the term amplitude dysmetria may neglect dyslexia, the subject with a right be used; movement at right angles to that hemispheric lesion has difficulty reading line merits the term direction dysmetria.3762 dysmorphopsia A distortion of shape words on the left side of the page, or even See ocular dysmetria. perceived. the left half of words. Surface dyslexia is a term applied in patients with left dysmyelination An inborn error of temporal lobe lesions who have a loss of dysmnesia (from Gr, difficulty þ memory) Any disturbance of memory metabolism affecting myelinogenesis that semantic knowledge, leading to including flashbacks, de´ja vu, jamais vu, causes the process to be delayed or arrested, difficulties with irregular words. experiential hallucinations, or panoramic or the myelin to be abnormal in its This term (for what had formerly been constituents. The leukodystrophies, many called word-blindness on the supposition that experiences but not including amnesia. aminoacidopathies, and the gangliosidoses it was intrinsically a visual disorder) was are examples.5090, 5091 dysmorphism (craniofacial introduced by Rudolf Berlin (1833–1897) 575 malformations) Abnormal facial in 1887. The condition is frequently appearances, including low-set ears, flared dysmyelinogenic familial but the transmission method not nostrils, an antimongolian slant to the always certain. In dyslexia-1, however, the leukodystrophy See Alexander disease. eyes, extruded lips, etc., occurring as part gene is mapped to 15q11. See word of a congenital, usually genetic, blindness. 1790 dysnomia Difficulty in naming objects; a A classification has been A variant is spelling dyslexia, in which the disorder. 4 dilute form of anomia. suggested. (See Chart D–13.) subject with dyslexia without dysgraphia can read single letters aloud, and adopt a letter-by-letter reading strategy, spelling the Dysmorphology Database See dysodia (dysodes) Hippocrates’ term for word aloud.6648 London Neurogenetic Database. smelling bad; also used as a collective term
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dyspeptic dystonia See Sandifer
of sensory input, as with receptive dysphasia fatigability, and weight loss; tachypnea, slight distal limb weakness, hyperreflexia, or deafness. and prominent fasciculations are clinical signs in the absence of marked bulbar or dysphonia (from Gr, difficulty þ limb weakness.5575 utterance) Abnormal production of vocal sounds, typically caused by local lesions of dysprosody (speech dyspraxia) Loss of the larynx or of its motor nerve supply. Dysphonia clericorum was the term given to the melodic intonations of cultured speech; a feature of all forms of dysphasia but that form of chronic laryngitis which affected those who said too much too loudly especially of Broca aphasia, in which incorrect emphases, hesitations, awkward from the pulpit. In these days of shorter phrasing, and dysmelodic intonation are sermons, the condition would be more detectable.4448 appropriately named with reference to the legislature, the racecourse, or the auction dysproteinemic neuropathy house. A syndrome of acquired demyelinating motor neuropathy resembling chronic dysphoria Hippocrates’ term for the inflammatory demyelinating restlessness and anxiety which accompany polyneuropathy but occurring in the disease states. presence of an underlying systemic illness such as plasma cell dyscrasia (including dysphrasia (from Gr, difficulty þ primary systemic amyloidosis), speech) Disturbance of speech due to osteosclerotic myeloma, Waldenstrom inadequacy of underlying ideation as in macrogobulinemia, gamma heavy chain dementia. disease, cryoglobulinemia, lymphoma, systemic lupus erythematosus, Castleman dysphrenia (from Gr, difficulty þ the disease, HIV infections, or an occult mind) The term of Kahlbaum for malignancy.101 See also paraneoplastic disturbance of the intellect resulting from neuropathy and gammopathic organic disease of the brain. neuropathy.
syndrome.
dysphrenic migraine A migrainous
dysphagia (from Gr, difficulty þ to
accompaniment characterized by confusion and amnesia for current events, but not necessarily by headache.4948 See confusional migraine.
for those diseases characterized by such odors.
dysopsia algera Pain from eye movement in the absence of detectable ocular disease. As with akinesia algera, the condition is often considered to be functional or psychogenic, but fevers, migraine and hangovers are also possible causes.5984 dysorthographia Impairment in the ability to spell, as may occur in the developmental dyslexias. dysosmia Distorted perception of odors, the sensation being almost invariably unpleasant. Head trauma, viral infections, and other causes of damage to the first cranial nerve, and depressive illnesses are the commoner causes.
dysosteosclerosis A congenital dysmorphic syndrome, a form of craniotubular dysplasia, also manifesting as short stature, skeletal, and dental abnormalities, blindness due to optic nerve atrophy, mental delay, and fragile bones.2042
swallow) A subjective sensation that swallowing is difficult or painful. When caused by a unilateral cerebral lesion, this is usually in the lowest part of the precentral gyrus or the posterior part of the inferior frontal gyrus. In most cases with a neurological cause, however, bilateral cerebral or bulbar lesions are required to produce the symptom.4274
dysphasia Disturbance of communication involving language due to disturbance of specific brain regions but in the absence of primary disturbance of the subcortical motor or sensory pathways. It is manifested by difficulties, variously, in fluency, repetition, comprehension, and naming according to the type of dysphasia present. Global aphasia; Broca aphasia; transcortical aphasias; Wernicke aphasia; conduction aphasia; and anomic aphasias are those most precisely described. See aphasia. dysphatic stuttering A form of dysfluency of speech related to impairment
dysplasia The abnormal organization of cells into tissue as a result of abnormal histogenesis. Thus, focal cortical dysplasia is a cause of otherwise unexplained focal cortical myoclonus or other seizure types.
dysraphism (Bremer syndrome) Axial skeletal anomalies due to improper closure of the neural tube. The severity of the resulting defect varies widely from the most minor spina bifida occulta to meningomyelocele or cranioschisis.
dysrhythmokinesis A disorder in the execution of regular or syncopated movements, as is seen with cerebellar lesions.
dyssomnias Disorders characterized by dysplasia of ears, sensorineural disturbance of the initiation or maintenance and conductive deafness, and of sleep, or by excessive sleepiness. They retardation syndrome A congenital include intrinsic sleep disorders, extrinsic
dysmorphic syndrome manifesting also psychomotor retardation.381
dysplastic gangliocytoma See Lhermitte–Duclos syndrome.
dyspnea–fasciculation syndrome: Respiratory failure occurring as an early manifestation of amyotrophic lateral sclerosis, presenting with exertional and nocturnal dyspnea, daytime hypersomnolence, limb
sleep disorders, and circadian rhythm sleep disorders. See also parasomnias and sleep disorders.
dyssynergia 1. (detrusor-sphincter dyssynergia) Disturbance in the reciprocal innervation of the detrusor muscle and the internal sphincter, which should allow the former to contract while the latter relaxes, or vice versa. Sphincter-detrusor dyssynergia occurs with pyramidal lesions and leads to
dyssynergia cerebellaris myoclonica complaints of urgency, frequency, and dribbling of urine. 2. (asynergia) A failure of the coordination of contraction or relaxation of muscles which normally act together in a group in order to produce a smoothly programmed movement. This is classically regarded as a sign of cerebellar disease, but other disorders of motor or sensory pathways and local disease may produce similar findings. 3. A term encompassing all the disturbances of movement occurring as a result of cerebellar disease.
dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome) A rare dominantly or recessively inherited syndrome of olivodentatorubral degeneration with progressive myoclonus epilepsy and intense action and intention myoclonus, tonic–clonic seizures, cerebellar signs, and sometimes mental deterioration. It was described by Ramsay Hunt in 1921.3050 The main clinical features are onset in infancy or childhood, with generalized seizures, action myoclonus, truncal ataxia, and limb tremor, but no other neurological signs. A variety of EEG patterns (photosensitive responses, paroxysmal discharges, and fast polyspike discharges over central regions during rapid eye movement sleep) are found. Somatosensory-evoked responses are unusually large.5354 The combination of myoclonic epilepsy and cerebellar signs also occurs in storage diseases such as the lipidoses, sialidosis, and lipofuscinosis, Lafora body disease, Baltic myoclonus, and mitochondrial encephalomyelopathy. Another form shows dominant inheritance. Some of Ramsay Hunt’s patients developed a cerebellar syndrome before, some after, the onset of myoclonic epilepsy and he did not claim that this condition was a single disease sui generis (although it has been convincingly distinguished from MERFF).6221 See also hereditary dentatorubralpallidoluysian atrophy.6219 In a variant form, peripheral neuropathy is detected.5925
dyssynergia cerebellaris progressiva A clinical syndrome of chronic progressive severe, local, and later generalized intention tremors with
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occurs, in which the muscular contraction leads the trunk, limbs, or face to assume a fixed posture. The underlying lesion is usually of the putamen, and less often of the brainstem or thalamus, and the mechanism for their production is likely to be a deficiency of the cortical inhibition of subcortical motor pathways with associated abnormalities in the somatosensory systems.1196 The clinical condition was first described in an M.D. thesis by Marcus Walter Schwalbe (b. 1883), a German physician, in 1908,5669 and then by Georg Theodor dysthymia (Gr, bad þ mind) Ziehen, a German psychiatrist in 1911. It Melancholy. was more fully delineated and named by Oppenheimer in that same dystasia, hereditary areflexic See Hermann 4804 year. However, subjects with what Roussy–Levy syndrome. appear to be dystonic postures had been painted by Peter Breughel the younger and dysthymia (somatic) Yet another by William Blake, and Robert Schumann neologistic attempt, this time to name the had a task-specific focal dystonia leading syndrome wherein the somatic him to withdraw from the concert platform manifestations of depression are presented in in favor of composition—though he could the absence (or at least in the presence of denial) of affective disturbance. Thus this is still improvise without the right third finger going rigid at all. possibly one of the commonest diseases An etiological classification, presenting to neurologists. recognizing idiopathic (primary) and symptomatic (secondary) forms, has been dysthyroid orbitopathy (Graves suggested,6868 the primary dystonias ophthalmopathy, thyroid ophthalmopathy, being further classified as hereditary endocrine exophthalmos) A varied group of forms, those associated with other symptoms which are causally related to hereditary neurological diseases, and thyroid disease but which are not always those which are sporadic. A simple clinical associated with systemic clinical evidence classification is that of Warner and of this. They include orbital and Jarman,6644 adapted here: conjunctival congestion and edema, lid Another classification is based on age at retraction, lid lag, proptosis, restrictive onset; early-onset dystonias usually start in extraocular myopathy, and optic a leg or arm and frequently progress to neuropathy.6820 Central scotomas, arcuate involve other limbs and the trunk, while or inferior altitudinal defects, and late-onset dystonias usually start in the generalized field constriction may be due neck, cranial muscles, or arm and tend to to optic nerve compression at the remain localized. orbital apex. A third classification is based on the distribution of the parts affected: dystonia (idiopathic torsion dystonia, • Focal dystonias affect a single body Oppenheim disease, Ziehen syndrome, tonic part. They comprise blepharospasm; torsion neurosis, Gowers tetanoid chorea, oromandibular dystonia; laryngeal paraspasm, dystonia musculorum deformans) and pharyngeal dystonias; spasmodic torticollis (cervical dystonia); truncal Sustained and patterned muscle codystonia; writers’ cramp (focal hand contractions of agonist and antagonist dystonia) and other occupational muscles, usually leading to twisting cramps, foot dystonia, adult-onset involuntary movements which are frequently primary lower limb dystonia, adultrepetitive and which may progress to fixed onset and childhood-onset segmental abnormal postures or to repetitive twisting or dystonias, generalized dystonias, and squeezing movements. Their speed varies some symptomatic dystonias. from creeping to myoclonic, but their range is • Multifocal dystonias affect more than one usually limited. Thus, the movements noncontiguous body part: (e.g., arm þ represent an unusually slow and persistent leg, or blepharospasm with writer’s cramp) form of athetosis. Fixed dystonia also dyssynergia, dysmetria, hypotonia, adiadochokinesis, and asthenia but without vertigo, nystagmus, optic atrophy, or dysequilibrium. The muscle stretch reflexes are normal.3048 It was described by Hunt as a pure cerebellar degeneration but it has been thought likely by others to have been Wilson disease (though Hunt considered this and found no corneal pigmentation), mitochondrial encephalopathy, or dystonic tremor.
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Form
Description
1. Primary dystonia
Phenotype of dystonia alone (with or without tremor; see below) Phenotype of dystonia with additional neurological features, e.g., Parkinsonism, myoclonus (dopa-responsive dystonia and rapid-onset dystoniaParkinsonism, see below). See also deafness–dystonia syndrome. Plus myoclonus (myoclonic dystonia; see below) Paroxysmal kinesigenic dystonia Paroxysmal dystonic choreoathetosis A. Resulting from structural CNS disease (e.g., craniocerebral trauma, drugs, encephalitis, multiple sclerosis, toxins, perinatal asphyxia, stroke) B. Heredo-degenerative diseases Dystonia-plus syndromes occurring in the context of an underlying neurodegenerative disease. These include X-linked Parkinsonism–dystonia (Lubag); ataxia–telangiectasia; biopterin-deficient states; dopamine agonist-responsive dystonia caused by decarboxylase deficiency; doparesponsive dystonia; dystonic lipidosis; gangliosidoses; glutaric academia; Hallervorden–Spatz disease (NBIA); Hartnup disease; homocystinuria; Huntington disease; intraneuronal inclusion disease; Leigh disease; Lesch–Nyhan syndrome; Machado–Joseph cerebellar ataxia; metachromatic leukodystrophy; mitochondrial encephalomyopathies such as Leber disease; myoclonic-dystonia; neuroacanthocytosis; neuronal ceroid-lipofuscinosis; rapid-onset dystonia-Parkinsonism; mutations of tyrosine hydroxylase; striopallidal calcification, and Wilson disease.
A. Dystonia-plus syndromes B. Paroxysmal dystonia 2. Secondary dystonias
3. Psychogenic dystonia
• Segmental dystonias affect two or more adjacent body parts (e.g., neck and trunk, face and jaw, or neck and arm as with torticollis and writer’s cramp). Hemidystonia affects the face and limbs of one side. • Generalized dystonias affect two or more noncontiguous body parts.1948
dystonia, blepharospasm, and pigmentary retinopathy See dystonia.
dystonia, deafness, and mental retardation An X-linked syndrome
with onset in early childhood, characterized by these features and a tendency to A fourth classification is based upon age of self-mutilation.5695 onset: It is not reproduced here in order to preserve the composure of the reader. Dystonia Disability Scale An However, compounding the confusion, certain forms of dystonia with assessment instrument quantifying the disturbance in functioning produced by unique characteristics to do with their dystonic disorders.944 The scale is site, precipitation or occurrence, age of reproduced as Chart D–15 by kind onset, and speed of response to therapy permission of the AAN and Lippincott are described. Thus the idiopathic Williams & Wilkins from Burke,et al. dystonias include classical torsion Validity and reliability of a rating scale for dystonia (see Chart D–14), paradoxical the primary torsion dystonias. Neurology dystonia, myoclonic dystonia, 1985; 35:73–7. diurnal dystonia, and dopa-responsive dystonia. Other dyskinesias include dystonic dysphagia, dystonic tics, paroxysmal dystonia, hypogenic dystonia, spasmodic and axial dystonia, and tardive dystonia. These are entered elsewhere.1950, 1951, 4227 Dystonia can also be psychogenic.3683 A classification of the dystonias adapted from Fahn1948 and others is provided in Chart D–14.
dystonia and basal ganglion calcification See dystonia.
Dystonia Medical Research Foundation (USA) Address: One East
Dystonia Movement Scale A rating scale used for the assessment of the scope and severity of the signs of primary torsion dystonias.944 The scale is reproduced here by kind permission of the American Academy of Neurology and Lippincott Williams & Wilkins. (See Chart D–16.)
dystonia musculorum deformans See dystonia and doparesponsive dystonia.
dystonia musculorum deformans with hyperuricemia A congenital syndrome with childhood onset, manifesting dystonia, athetosis, and hyperuricemia. See also Lesch–Nyhan syndrome.
dystonia rating scales The new
Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) can be seen at Wacker Dr., Suite 2430, Chicago, IL the Web site http://www.mdvu.org/ 60601-2001. Tel: 312-755-0198. (Canada) library/ratingscales/dystonia/ Address: 777 Hornby St. #1800, Vancouver, PadwChart.11.pdf/. See also United BC V6Z 1S4, Canada. A charitable Dystonia Rating Scale, Burke–Fahn– organization, each branch seeking to Marsden Scale, and Global Dystonia determine the cause and cure of involuntary Rating Scales. movement disorders through the provision of research funding, and undertaking patient support work and both professional and Dystonia Society (UK) A charitable patient information services. Web site: organization. Address: 46-47 Britton St., London EC1M 5UJ, UK. Tel: 0171 490 www.dystonia-foundation.org.
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Chart D–14. A Classification of the Dystonias 1. Primary idiopathic dystonia (No identifiable exogenous cause or other inherited or degenerative disease) A. Inherited (hereditary torsion dystonia) (autosomal dominant, recessive, or pseudodominant, X-linked recessive). The dominant syndrome (idiopathic primary torsion dystonia) is the most common form and is characterized by the onset in youth or young adult life of torticollis, blepharospasm, or truncal dystonia, though cranial involvement is infrequent; progressing to athetosis, dystonia, and muscle hypertrophy, starting later and of less severity than the recessive form. In this form, the younger the age of onset, the greater chance there is of generalization. It is common in Ashkenazi Jews, among whom the symptoms rather resemble those of the recessive form. The gene DYT1 maps to 9q34938, 5159 and DYT13 to 1p36.13–36.32. A mixed phenotype has onset in childhood or adult life, may begin anywhere, and is dominantly inherited with incomplete penetrance. Cranial involvement with dysarthria and dysphonia is common. This form is mapped to chromosome 8 in Mennonite/Amish families. A third phenoptype has onset in adult life, with cervical, cranial, or brachial involvement and again is inherited as an autosomal dominant trait but with very reduced penetrance. The dystonia tends to remain localized. This form has been mapped to chromosome 18p but is likely to be genetically heterogeneous. Criteria for the diagnosis of dystonia have been suggested4102 and include the following: The presence of dystonic movements and postures. A normal perinatal history. The absence of any history of precipitating illness or of exposure to drugs known to provoke torsion dystonia before the onset of the illness. The absence of intellectual, pyramidal, cerebellar, or sensory abnormalities on examination. A normal laboratory evaluation, including serum copper studies. A numerical classification of the dystonias has been proposed: DYT1 Generalized, with various presentations DYT2 Generalized, recessively inherited, with various presentations DYT3 Generalized, with blepharospasm and Parkinsonism DYT4 Whispering dysphonia DYT5 Dopa-responsive dystonia (DYT5). This form has been mapped to chromosome 14q22 DYT14 Dopamine responsive dystonia at 14q13 DYT6 A craniocervical form DYT7 A focal form, mainly affecting cervical regions (familial torticollis) mapped to 18p DYT8 Paroxysmal nonkinesigenic dyskinesias with generalized dystonia. A channelopathy. DYT9 Paroxysmal choreoathetosis, ataxia, and limb dystonias. A channelopathy. DYT0 Paroxysmal kinesigenic dyskinesias with generalized dystonia, chorea, athetosis and/or ballismus. A channelopathy, mapped to 16q11 or 16q13 DYT11 Myoclonic dystonia mapped to 7q21 DYT15 Myoclonic dystonia mapped to 18q11 DYT12 Rapid-onset dystonia-Parkinsonism with adult onset, mapped to 19q13. This is a dominantly inherited form occurring in youth or early adult life, in which the motor features affect bulbar and upper limbs especially, with initial onset over hours, days, or weeks, progressing only slowly thereafter.1675, 5042 DYT13 Generalized, with various presentations, usually with adolescent onset and mapped to 1p36 DYT16 Not yet assigned, but it will be. For other forms of dystonia, the molecular genetics are less clear. A recessive form is characterized by the onset in youth or young adult life of athetosis, dystonia, and muscle hypertrophy. Starting in one limb, symptoms extend to other limbs and the trunk at variable rates. The following variants (almost all conforming to the label of dystonia-plus, indicating the coexistence of, e.g., myoclonus, ataxia, or Parkinsonism) have been described: Adult-onset axial dystonia, a focal dystonic syndrome mapped in some cases to 18p and which starts in adult life, does not affect the legs and progresses little. Prior trauma may be a factor in a third of cases.610 Deafness-dystonia syndrome Dystonia with marked cerebellar atrophy in which dystonia is accompanied by marked cerebellar atrophy on brain MRI although the clinical signs of cerebellar disease are rather scarce. The condition may have X-linked inheritance.3732 Dystonia with marked diurnal variation (diurnal dystonia, Segawa disease) A dominant or recessive dystonic syndrome with onset in childhood characterized by initial involvement of one limb, deterioration during the day, abatement with sleep, and complete responsiveness to L-dopa.5709 Like dopa-responsive dystonia, this condition has been mapped to chromosome 14q. Generalized dystonia and striatal calcifications with lipoid proteinosis Hereditary myoclonic dystonia (hereditary dystonia with lightning jerks, responsive to alcohol) A dominantly inherited dystonic and myoclonic syndrome with onset in childhood and affecting mainly the neck and arms and sparing the legs. The lightning jerks occur spontaneously, with movement and as a response to startle, with variable symmetry and synchrony, and abate with alcohol ingestion. In some cases, abnormal EEG activity precedes the jerks.5159
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Myoclonus-dystonia (hereditary essential myoclonus, hereditary myoclonic dystonia, DYT11) A dominantly inherited, rather benign form of idiopathic dystonia with onset in childhood or young adult life, characterized by dystonia of the face, arms, and trunk, upon which is superimposed proximal, action-induced myoclonus mainly affecting the arms and trunk and which is present at rest, worsened by exercise, and substantially relieved by alcohol.4745 The condition has been mapped to 7q21 but also to 18p11, 11q, and (in a variant form with seizures) to the SCGE gene, in which condition the sexes are equally affected and the symptomsabate with alcohol. Diagnostic criteria (adapted here) have been suggested:3473 Onset in the first 20 years of life, with mild dystonic features in addition to myoclonus 1. 2. 3. 4.
Benign course Dominant inheritance with variable, severity, and incomplete penetrance Absence of dementia, at a axia or other deficits Normal EEG, SSEPs, and neuroimaging
Paradoxical dystonia. Paroxysmal kinesigenic and nonkinesigenic dystonias in which dystonic attacks are precipitated by prolonged muscular exertion and last from 5 to 30 min. In some families there is an association with migraine.4548 These conditions are sometimes dominantly inherited (mapped to chromosome 16) but may also occur sporadically.4341 See also dyskinesias. Paroxysmal nocturnal hemidystonia A syndrome characterized by the occurrence of paroxysmal dystonic-dyskinetic movements during Stages 2 and 3 of nonrapid eye movement sleep. These are actually more likely to represent seizure manifestations. X-linked dystonia-Parkinsonism (Lubag) An X-linked recessive (Xq21) or codominant syndrome recorded originally in adult male Filipinos; elsewhere, linkage to Xq12–13.1 has been described. Clinically, this form has a gradual onset, but continues rapidly to a state of severe involvement,379 initially with dystonia; the signs of Parkinsonism appear later in life and respond poorly to L-dopa therapy.379, 6668 The word lubag is that used in the Philippines for this condition. B. Sporadic (idiopathic or symptomatic dystonia) 1. 2. 3. 4. 5.
Generalized. Segmental or limb dystonia (usually secondary dystonias). A dominantly inherited syndrome linked in some cases to a site on chromosome 8. Hemidystonia. Multifocal dystonia. Focal: torticollis, occupational cramps, oromandibular dystonia, blepharospasm, and spasmodic dysphonia.
Other variants include the following: Benign idiopathic dystonia A dystonic state occurring in infancy and clearing by the age of 18 months.6792 Dystonia with multiple contractures A rare syndrome of chorea and dystonia in the setting of multiple nonprogressive contractures of muscle with childhood onset.2010 Determan syndrome Intermittent dystonic movements resulting from cerebrovascular disease affecting the basal ganglia. 2. Secondary dystonia A. Associated with other hereditary neurodegenerative or metabolic disorders such as ataxia-telangiectasia dystonic juvenile lipidosis; Huntington disease; neuronal ceroid lipofuscinosis; GM2 and GM1 gangliosidoses; glutaric aciduria type 1; Leigh disease; metachromatic leukodystrophy; Leber optic atrophy and other mitochondrial diseases; Hartnup disease; homocystinuria; Intraneuronal inclusion disease; juvenile dystonic lipidosis; Leigh disease; Lesch–Nyhan syndrome; Lubag (X-linked Parkinsonism-dystonia); Machado–Joseph disease (SCA3); Martha–Alma (Hallervorden–Spatz) disease (NBIA); methylmalonic academia; myoclonic dystonia; neuronal ceroid lipofuscinosis; neurovisceral storage disease; phenylketonuria and other biopterin deficient states; supranuclear ophthalmoplegia; tardive dystonia;6198 triosephosphate isomerase deficiency; tyrosinosis; tyrosine hydroxylase mutations; and Wilson disease. Dystonia and basal ganglion calcification A dominantly inherited dystonic syndrome of childhood or early adult life characterized by dysarthria, dementia, resting tremors, dystonia, chorea, ataxia, and athetosis and with intracranial calcification in the basal ganglia and elsewhere.6880 See also DACE syndrome (below). Torsion dystonia with basal ganglion lucencies A slowly progressive dystonic syndrome without intellectual failure, beginning in infancy or early childhood.4960 Idiopathic dystonia-Parkinsonism A form of juvenile Parkinsonism with a benign and chronic course, characterized by dystonic movements and Parkinsonism with marked diurnal fluctuation of symptoms, a marked response to low doses of anti-Parkinsonian drugs, and EMG findings of continuous discharges of antagonistic muscles.6134 Rapid-onset dystonia-Parkinsonism A dominantly inherited disorder characterized by the rapid onset of symptoms (of dystonia more than of Parkinsonism) in youth or adult life, with little succeeding progression but with minimal response to treatment with L-dopa or dopamine agonists.1675 Flexion dystonia in paralysis agitans A syndrome manifesting slowly progressive persistent flexed postures of the limbs, especially the hands and wrists,1591 accompanied by synchronous grouped discharges of antagonistic muscles. Dystonia, blepharospasm, and pigmentary retinopathy An inherited syndrome of prominent extrapyramidal dysfunction, retinal pigmentary changes, pyramidal and cerebellar signs, and high-arched palate, with unimpaired intellect.1278 continued
dystonia with contractures and abnormal muscle
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Chart D–14. (continued ) DACE syndrome (Dystonia, Acanthocytosis, Basal Ganglion Calcification and Eye abnormalities) A rare syndrome with onset in childhood, characterized by the presence of these features, the dystonia being severe and progressive and the eye disorders comprising nystagmus in the primary position and limitation of vertical movements. Because the high-density signals from the globus pallidus suggest the presence of iron deposits, the condition may be a variant of Hallervorden–Spatz disease.1383 Posttraumatic cervical dystonia The occurrence of cervical dystonia following neck injury. The syndrome is said to manifest marked limitation of the range of movement of the neck, failure of relief from gestes antagonistiques and from sleep; tonic rather than phasic neck muscle contraction; and poor response to treatment.5518 B. Associated with other disorders. C. Owing to other known acquired (?) metabolic or structural neurological disease, including Parkinsonism Hypoparathyroidism Encephalitis Postinfectious states. Toxins—manganese, carbon monoxide, carbon disulfide, L-dopa, D2-receptor agonists. Perinatal cerebral injury, head trauma, brain tumor, stroke. See also focal task-specific dystonias (occupational cramp, musicians cramp/dystonia) In some such kinships, other dystonic disorders may occur. D. Psychogenic Based on Fahn S. Generalized dystonia: concept and treatment. Clin Neuropharmacol 1986; 9 [Suppl 2: S37–48) and Bressman (1998).831
Chart D–15. Dystonia Disability Scale A. Speech 0. Normal 1. Slightly involved; easily understood. 2. Some difficulty in understanding 3. Marked difficulty in understanding 4. Complete or almost complete anarthria. B. Handwriting (Tremor or Dystonia) 0. Normal 1. Slight difficulty; legible 2. Almost illegible 3. Illegible 4. Unable to grasp to maintain hold on pen. C. Feeding 0. Normal 1. Uses tricks; independent
2. Can feed but cannot cut 3. Finger food only 4. Completely dependent. D. Eating/swallowing 0. Normal 1. Occasional choking 2. Chokes frequently; difficulty swallowing 3. Unable to swallow firm foods 4. Marked difficulty swallowing soft foods and liquids. E. Hygiene 0. Normal 1. Clumsy; independent 2. Needs help with some activities 3. Needs help with most activities 4. Needs help with all activities.
F. Dressing 0. Normal 1. Clumsy; independent 2. Needs help with some activities 3. Needs help with most activities 4. Helpless G. Walking 0. Normal 1. Slightly abnormal; hardly noticeable 2. Moderately abnormal; obvious to naive observer 3. Considerably abnormal 4. Needs assistance to walk 5. Wheelchair bound.
Adapted from Burke et al. (1985)944.
5671. Web site: http://www.dystonia. org.uk/dystoniasocietyh.html.
dystonia with marked diurnal variation associated with biopterin deficiency See
dystonia with contractures and abnormal muscle An inherited
dopa-responsive dystonia.
congenital syndrome characterized by joint contractures, chorea, dystonia, and muscle fiber hypotrophy with ring fibers.381
dystonia with marked diurnal variation See diurnal dystonia.
dystonia with multiple contractures See dystonia. dystonic choreo-athetosis induced by exercise An inherited
which are precipitated by muscular activity.2472 This condition and dopa-responsive dystonia may be the same. See also paroxysmal kinesigenic choreoathetosis.
dystonic cramps Muscle spasms complicating manual tasks—a form of focal hand cramps.5775
dystonic dysphagia Focal syndrome characterized by onset in dystonia affecting the pharyngeal childhood or youth of athetosis and dystonia, muscles.
dystonic dysphagia
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Chart D–16. Dystonia Movement Scale Region
Severity Factor
Factor Weight
Product
Eyes Mouth Speech Neck R. Arm L. Arm Trunk R. Leg L. Leg
0–4 0–4 0–4 0–4 0–4 0–4 0–4 0–4 0–4 0–4 0–4 0–4 0–4 0–4 0–4 0–4 0–4 0–4
0.5 0.5 1.0 0.5 1.0 1.0 1.0 1.0 1.0
0–8 0–8 0–16 0–8 0–16 0–16 0–16 0–16 0–16
SUM (Maximum ¼ 120) 1. Provoking factor A. General 0. No dystonia at rest or with action 1. Dystonia on particular action 2. Dystonia on many actions 3. Dystonia on action of distant part of body or intermittently at rest 4. Dystonia present at rest B. Speech and swallowing 1. Occasional, either or both 2. Frequent either 3. Frequent one and occasional other 4. Frequent both II. Severity factors Eyes 0. No dystonia 1. Slight, occasional blinking 2. Mild. Frequent blinking without prolonged spasms of eye closure 3. Moderate. Prolonged spasms of eyelid closure, but eyes open most of the time 4. Severe. Prolonged spasms of eyelid closure, with eyes closed at least 30% of the time Mouth 0. No dystonia present 1. Slight. Occasional grimacing or other mouth movement (e.g., jaw open or clenched; tongue movement) 2. Mild. Movement present less than 50% of the time 3. Moderate dystonia movements or contractions present most of the time 4. Severe dystonic movements or contractions present most of the time Speech and swallowing 0. Normal 1. Slightly involved; speech easily understood or occasional choking 2. Some difficulty in understanding speech or frequent choking 3. Marked difficulty in understanding speech or inability to swallow firm foods. 4. Complete or almost complete anarthria, or marked difficulty swallowing soft foods and liquids Neck 0. No dystonia present 1. Slight. Occasional pulling 2. Obvious torticollis, but mild 3. Moderate pulling 4. Extreme pulling Arm 0. No dystonia present 1. Slight dystonia. Clinically insignificant continued
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Chart D–16. (continued ) 2. Mild. Obvious dystonia, but not disabling 3. Moderate. Able to grasp, with some manual function 4. Severe. No useful grasp Trunk 0. No dystonia present 1. Slight bending, clinically insignificant 2. Definite bending, but not interfering with standing or walking 3. Moderate bending; interfering with standing or walking 4. Extreme bending of trunk preventing standing or walking Leg 0. No dystonia present 1. Slight dystonia, but not causing impairment; clinically insignificant 2. Mild dystonia. Walks briskly and unaided 3. Moderate dystonia. Severely impairs walking or requires assistance 4. Severe. Unable to stand or walk on involved leg Adapted from Burke et al. (1985)944 and reproduced by kind permission.
dystonic foot response (striatal
dystonic stridor A form of
dystrophia myotonica See myotonic
foot, grasp reflex of the foot, myokymia of Kny, and Schultze) Stereotyped, tonic, painful extension of the hallux with flexion of the other toes, arching of the sole, and inversion at the ankle associated with extrapyramidal disease but not with frontal lobe lesions, and worsened by L-dopa therapy.4602 See also dystonic toe.
segmental dystonia affecting the vocal cords.1282
dystrophy.
dystonic syndrome of senility See dystrophin A large intracellular
protein, coded at Xp21.2, which is a component of the sarcolemmal plasma membrane (transverse tubule) system. The dystonic tics See tics. absence of dystrophin leads to the muscular symptoms of Duchenne dystonic toe The semipermanent muscular dystrophy. In Becker dorsiflexed posture of the hallux seen in some dystonic gait See dyskinetic gait. dystrophy, the protein is present but patients in whom dystonia affects the leg. abnormal either in quantity or in See also dystonic foot response. composition.2935 The dystrophindystonic juvenile lipidosis A rare associated proteins consist of one syndrome comprising mental deterioration, dystonic tremor Forms of action intracellular (dystrobrevin–syntrophin) and vertical gaze palsy, seizures, dyskinesias and tremor in patients with dystonias.1615 two transmembrane complexes pyramidal signs, with hepatoOne form is a postural/kinetic tremor (dystroglycan and sarcoglycan-sarcospan). splenomegaly. Sea-blue histiocytosis is indistinguishable from essential tremor; a Mutations or alterations in these lead to found in the bone marrow. The condition second is an irregular, jerky action various forms of LGMD, etc.3454 may be a form of sphingomyelin storage tremor interposed between the 3421 disorder. involuntary dystonic movements; and a dystrophin test A Western blot third is an irregular task-specific analysis of dystrophin protein from a dystonic motor seizure Sustained tremor. muscle biopsy specimen, allowing contractions of both agonist and antagonist characterization of the abnormal protein muscles as a seizure manifestation, dystroglycan A transmembrane alleles in Duchenne and Becker muscle producing athetoid or twisting movements protein, ubiquitously expressed, that 2935 dystrophies. which when prolonged may produce connects the extracellular matrix to the abnormal postures. cytoskeleton. Its aberrant glycosylation is a pathogenetic mechanism in several forms of dystrophinopathies A group of congenital and late-onset muscular clinicopathological disorders resulting from dystonic spasms Forceful and dystrophies. mutations of the dystrophin gene. They accelerated dystonic movements, with the include Duchenne muscle dystrophy (and its same implications as other dystonic dilute manifestation in female carriers); Becker manifestations. dystrophia muscularis muscle dystrophy; cardiomyopathy with or progressiva See limb-girdle muscular without proximal weakness; a syndrome of dystonic storm See status dystonicus. dystrophy. myalgia and cramps; and hyperCKemic states. danse du ventre.
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See also sarcoglycanopathy, desminopathy, and dysferlin.
dystrophy (Gr, difficulty þ nourishment; and thus bad growth) The term arbitrarily used for those (usually progressive) diseases of muscle which have a genetic basis, the remainder being called myopathies, which just means diseases of muscle. It would have been simpler to call them all either
genetic or acquired myopathies, but it is too be seen in complex regional pain late now. syndrome 1.
dysversion Congenital structural abnormalities of the eye, including tilted disks, occurring alone or in association with craniofacial syndromes.
dysynchiria The sensation of painful bilateral stimulation with a unilateral painless stimulus. This may
Dzerzhinskii syndrome A familial syndrome, a form of craniomandibularfacial dysostosis, marked by acrocephaly, scaphocephaly, lordotic curvature at the base of the skull, premature closure of the cranial sutures, dysmorphism, protruding nose, and thickening of the phalanges, sternum, and clavicles.1792
e 18q syndrome A leukodystrophy due to a deletion of part of the long arm of chromosome 18, which includes the region coding for myelin basic protein (18q22–3– qter). Dysmorphisms, mental retardation, hyperactivity, and aggressivity are associated. The condition has been reported to have its onset in adult life.448
E-2 See recording electrode.
Eales disease (retinitis proliferans, periphlebitis retinae, angiopathia retinae juvenalis) The occurrence of retinal periphlebitis, neovascular formation, and recurrent vitreous and retinal hemorrhages in young people.1796 CSF pleocytosis may be found. The acute ocular events may be followed by severe acute or subacute myelopathy, seizures, and focal neurological deficits. Eales considered that constipation was a likely cause; no better guess has been suggested since.
Eagle syndrome (stylohyoid process
ear wagging See Hassin sign.
E-l See recording electrode.
syndrome) Pain in the face or in the floor of the mouth, supposed to be brought about by trauma to a congenitally elongated or calcified styloid process1794 or resulting from pressure on local structures (including the carotid artery) exerted by the long styloid process. The syndrome appears to be confined to adults, in whom the pain is brought on by jaw or neck movements, swallowing, or local pressure.4147
Eales, Henry (1852–1913) Ophthalmologist practicing in Birmingham, England.
early hematoma growth Expansion of the size of an intracerebral hematoma, as after a spontaneous intracerebral hemorrhage, caused variously by continuing bleeding, vascular engorgement, and local edema produced by the irritant effects of the blood with breakdown of the blood-brain barrier. The clinical effect is further deterioration in neurologic status.
early infantile epileptic encephalopathy with suppression burst (Ohtahara
syndrome) An epileptic encephalopathy of infancy (usually occurring within the first 10 ear wiggling Bilateral, intermittent days of life) characterized by frequent brief movements of the ears due to contractions of tonic spasms and a suppression burst EEG the auricular muscles, accompanied usually pattern in both waking and sleeping states. by scalp movements and considered to have a Hemiconvulsions and other focal seizures and psychological basis.3409 However, the generalized tonic-clonic seizures (GTCS) may phenomenon was also displayed by Dopey, occur but myoclonic seizures are rare.4777, 690 one of the seven dwarfs in the Walt Disney Intrauterine seizures have been detected. movie, whose perceived stress level was The etiology and underlying pathology likely to have been low. are obscure but cortical dysplasia is a possible factor. The prognosis is serious, with severe psychomotor retardation and seizure earlobe reflex A normal sign in intractability; often there is evolution to the infants; rubbing the earlobe lightly causes West syndrome at age 4–6 months. (After rotation of the head toward the opposite Dreifuss FE, et al. Commission for side.6898
eating epilepsy
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classification and terminology, ILAE. Proposal for revised classifications of epilepsies and epileptic syndromes. Epilepsia 1989;30:389–99. Reproduced by kind permission of the ILAE and Wiley-Blackwell Publications.) Electrographically, bursts of irregular spikes, sharp waves, and slow waves, lasting up to several seconds and occurring over both hemispheres, are separated by periods of marked diminution of activity on the EEG— 2–6 s suppression bursts (discharges of wide amplitude spikes and polyspikes alternating with suppression of electric activity) during waking and sleep. The syndrome is caused by a variety of early and extensive brain insults, especially brain malformations, and is considered to represent a specific type of epileptic encephalopathy in the neonatal period and early infancy, resembling infantile spasms in older children.4778 See also Aicardi syndrome.
onset before the age of 3 months, characterized initially by fragmentary myoclonus and then by erratic focal seizures, massive myoclonia, and/or tonic spasms, refractory to treatment. The EEG shows suppression-burst activity, which may evolve into hypsarrhythmia. The course is severe as psychomotor development is arrested, and death may occur in the first year. Familial cases are frequent and this condition is likely a reflection of one or another of the congenital inborn metabolic errors, so there is no consistent genetic pattern.4882 This seizure syndrome so closely resembles Ohtahara syndrome that it is possibly identical.1861 See also neonatal myoclonic encephalopathy.
early recruitment A recruitment pattern which occurs in association with a reduction in the number of muscle fibers per motor unit or when the force generated by the fibers is reduced. At low levels of muscle contraction, more motor unit action potentials are recorded than expected, and a full interference pattern may be recorded at relatively low levels of muscle contraction. It is most often encountered in myopathy. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.)
earth See ground electrode.
early-onset autosomal earthbound astronaut dominant dementia with ataxia, syndrome A fanciful name applied to an extrapyramidal features, and acquired state of dysequilibrium.1707 epilepsy A rare syndrome with these manifestations, not linked to currently ease-of-falling syndrome Probably Early Language Milestone Scale known dementias.2049, 2049 4135 An instrument assessing all the components of visual and auditory language in infants early-onset spinal muscular from birth to 3 years of age, including atrophy See hereditary motor auditory expressive, auditory receptive, and neuropathy, type 2. 1276 visual functions.
early morning akinesia A hypokinetic form of fluctuation in Parkinsonian patients on long-term levadopa therapy in which disability is increased on waking, by which time the previous night’s dose has lost its effect.
early morning dystonia A dystonic form of fluctuation in Parkinsonian patients on long term levadopa therapy in which dystonic movements accompany the morning fall in levadopa levels. early morning waking The inability to fall asleep after unusual and inappropriately early waking from nocturnal sleep. When pathological, it is usually a symptom of depressive or hypomanic illness, but it also occurs in the healthy elderly.
early multiple sclerosis A diagnostic category in the 1954 definitions of Allison and Millar, now largely replaced by the Schumacher or the Poser criteria. early myoclonic encephalopathy A rare epileptic encephalopathy of infancy, usually with
early-onset cerebellar ataxia with retained reflexes Recessively inherited cerebellar ataxic syndromes, with onset in youth, that resemble Friedreich ataxia but in which areflexia, optic atrophy, heart disease, diabetes, and skeletal deformity do not occur.2754 A variant is an X-linked recessive form. Other recessively inherited forms are mainly reported from Quebec;385 their various symptoms including hypogonadism, normal muscle stretch reflexes; myoclonus (Ramsay Hunt syndrome); pigmentary retinal degeneration and mental retardation; optic atrophy and mental retardation; cataracts and mental retardation; deafness alone or with mental retardation; and extrapyramidal features. See also cerebellar ataxias.
the same as thalamic astasia in which a patient is unable to stand after a unilateral thalamic lesion or a lesion in the superior part of the internal capsule, as described by Miller Fisher.2092, 2105 The astasia, in which the patient falls repeatedly to the side of the weakness, appears out of proportion to the mildness of the pyramidal motor deficit.
eastern equine encephalitis An uncommon mosquito-borne arbovirus infection with its reservoir among wild birds living along the American, Atlantic, and Caribbean coasts, usually occurring as sporadic infections, most commonly in children. Clinically, the encephalitis is severe, with a mortality of up to 70%, leaving neurological sequelae in most survivors. High fevers, seizures, facial edema, signs of raised intracranial pressure, and evidence of severe progressive neurological impairment are the usual clinical features.2447 Since the routine immunization of horses, equine infection and thus the disease in humans early post-traumatic epilepsy have become uncommon.5135 For further Seizures occurring in the week following information see the CDC Web site, http:// craniocerebral trauma. In adults, this is www.cdc.gov/ncidod/dvbid/arbor/ usually associated with severe or complicated index.htm. cerebral injury. See also late post-traumatic epilepsy. eating epilepsy (prandic epilepsy) Seizures (usually of complex partial type) early probable (latent) multiple provoked by the act of eating and associated sclerosis See McDonald-Halliday with a lesion of the deep frontal lobes or rhinencephalon which appears to activate criteria.4217
Eaton, L.M. diencephalic structures involved in the cephalic phase of digestion.5332 The seizures represent a form of reflex epilepsy. There is frequently a positive family history of seizures in affected subjects. This is a disorder of young adults, especially in India, in whom some aspect of eating (hunger, site, smell, taste, chewing, or swallowing) acts as a precipitant of seizures.3902
Eaton, L.M. (1905–1958) American neurologist at the Mayo Clinic, where he developed an extensive interest in neuromuscular disease.
Eaton-Lambert syndrome See Lambert–Eaton myasthenic syndrome.
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a subject who is usually aphasic or (as in the first reported cases of Pick) is suffering from mental retardation. See hypergraphia.
may also pass through a patent foramen ovale to cause stroke.
echopraxia The involuntary repetition
ecstasy
ecstasies (raptures) Emotionally significant experiences at times of extreme echolalia The involuntary, automatic, affective arousal, the mental content often precise repetition of the words or phrases said interpreted by the subject as of divine origin. to the patient without change in pronoun, in Those of Teresa de Ahumada (Teresa of the presence of gross difficulty in Jesus), Dostoevsky, and St. Paul have been comprehension. The condition is typically interpreted as ecstatic epilepsy on the basis of due to isolation of the speech areas by a large the accompanying stereotypic movements parietal lesion.2338 but in one case at least attributed not to an act of God but rather to the effects of echolaliopraxia See signing tics. neurocysticercosis.2272 of the actions or speech of another person.
3,4-Methylenedioxymethamphetamine, an agent capable of causing the undesired effects ebriositatis See delirium tremens. EC/IC bypass surgery (extracranial– of metabolic stimulation and muscle necrosis intracranial bypass) Surgical anastomosis of with hyperthermia, as well as the desired ecchordosis physaliphora A the superficial temporal artery with a branch mood alterations. jellylike excrescence occurring anywhere of the middle cerebral artery in order to along the axial skeleton and considered to be improve blood flow through the latter vessel. ectasia, ectasis (from Gr, to stretch a non-neoplastic hamartoma. The lesion is Theoretically and technically this is a superb out) Dilation, usually applied to a hollow usually clinically silent and rarely leads on to operation, for which an appropriate disease is channel such as a blood vessel. the growth of a chordoma. Like chordomas, keenly being sought. however, it stains positively for cytokeratin and epithelial membrane antigen.3991 eclampsia A severe hypertensive state ectodermal calcification–basal ganglion calcification syndrome with widespread vasospasm, peculiar to A congenital dysmorphic syndrome echenne muscular dystrophywomen in the peripartum state up to 2 white matter spongiosis A weeks after delivery. Evidence of hemolysis, manifesting also short stature, alopecia, microcephaly, calcification of the basal congenital dysmorphic syndrome elevated liver enzymes, and low platelets ganglia, and mental and developmental characterized by feeding problems in (the HELLP syndrome) may be found, delay. See striatopallidal calcification. infancy, joint contractures and associated with cerebral edema and arthrogryposis, grand mal and absence hemorrhage in severe cases. Neurological ectodermal dysplasia Inherited seizures (including reading epilepsy), features include grand mal seizures, syndromes comprising abnormalities dolichocephaly, scaphocephaly or headache, and other evidence of raised both of the skin and of the nervous macrocephaly, and myopathic weakness.381 intracranial pressure, posterior system.676, 1205, 3248, 5469, 6450 Both leukoencephalopathy, and acutelyneurocutaneous syndromes and mesodermal appearing focal deficits such as strokelike Echner, Alexander (1816–1887) German anatomist in Freyburg whose precise syndromes and ischemic optic neuropathy. disorders such as Sturge–Weber syndrome and Lindau disease are subsumed under this and detailed drawings of the cortex in 1869 An association with the Leiden Factor V heading. has been shown.6292 established the form of the sulci, gyri, and See also: anhidrotic ectodermal dysplasia; fissures (and thus the lobes) of the cerebrum. hidrotic ectodermal dysplasia; von Economo, Konstantin von See Recklinghausen disease; tuberous sclerosis; Echner inferior parietal lobule Von Economo, Konstantino. xeroderma pigmentosum; Rud syndrome; The supramarginal and angular Berier disease; Kaposi disease; poikiloderma gyri, identified by Alexander Echner Economo disease See encephalitis congenitale; progeria; Bardet-Biedel in 1869.5619 lethargica. syndrome; Klippel–Trenaunay–Weber syndrome; and Sjo¨gren–Larsson syndrome. echo actions The precise repetition by economy class syndrome The the patient of what the examiner has just said occurrence of venous thromboembolism ectodermal dysplasiaor done. Occasionally a feature of late-stage (usually leading to pulmonary venous dementias, it is more often evidence of olivopontocerebellar infarction) as a result of prolonged relative schizophrenia. degeneration A congenital dysmorphic immobility in an aeroplane seat, allowing little opportunity for leg movement and syndrome with midface hypoplasia manifesting also short stature, deafness, echographia The repetition in writing requiring almost a Valsalva maneuver in of what is presented in speech or writing to order to escape from it. The migrant emboli hypogonadotrophic hypogonadism,
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cerebellar and pyramidal signs, and mental and developmental delay.5469
ectomesodermal blastomatoses See phakomatoses.
Edinburgh syndrome A dominantly inherited, lethal congenital dysmorphic syndrome characterized by hydrocephalus, hyperbilirubinemia, and mental and motor delay.2660
Edinburgh-2 Coma Scale A scale measuring consciousness as manifest through the patient’s best response to ectopia pupillae See corectopia iridis. maximal stimuli. Subjects are asked the month and their age and to close and open ectopic In an abnormal place. their hands and eyes; their response to strong pain is also assessed.6120 Despite the name, the test is actually ectopic intracranial retinoblastoma The combination of Japanese; its place in practice in relation to the Glasgow Coma Scale is uncertain. pinealoblastoma and retinoblastoma. ectopia See heterotopia.
ectopic motor nerve behavior Ectopic discharges occur in the form of isolated fasciculations, myokymia, neuromyotonia, or cramp, with common pathophysiologic mechanisms. Cramps and fasciculations originate primarily in the most distal motor nerve terminals lacking a myelin sheath and with a porous blood– nerve barrier. With reinnervation, ionic imbalances, motor nerve disease, or pharmacologic challenge, ectopic impulses arise and create visible but sporadic fasciculations. Other circumstances, including muscle shortening and dehydration, give rise to more frequent and localized fasciculations that can erupt into a painful muscle cramp. Unusual motor ectopic phenomena involving rapidly recurrent discharges in multiple motor nerves give rise to grouped fasciculations, myokymia, and neuromyotonia.1016
ectopic pinealoma See dysgerminoma.
ectropion (Gr, a bending outward) Outward turning of the eyelids. Eddowes syndrome See Apert syndrome.
EEG coma patterns A system of grading the EEG records in comatose patients. The original form of Synek6179 listed 165 categories; a simpler one published more recently6927 has only nine. Category
I. Delta/theta >50% of record German professor of anatomy and neurology (not theta coma) at Frankfurt, who differentiated the palaeoII. Triphasic waves and neocerebellum in 1885 on the basis of III. Burst–suppression
Subcategory
Edinger, Ludwig (1855–1918)
the number of cortical layers possessed by each. He also identified the Edinger– Westphal nucleus, 2 years before Westphal, and gave the first complete account of IV. Alpha/theta/ thalamic pain.
Edinger–Westphal nucleus The parasympathetic nucleus of the III cranial nerve.
spindle coma (unreactive) V. Epileptiform activity (not in burst– suppression pattern) Suppression
A. With epileptiform activity B. Without epileptiform activity
A. Generalized B. Focal or multifocal
EDMUS A computerized minimal A. < 20 mV but descriptive record documenting clinical and >10 mV laboratory data in patients with multiple B. 10 mV sclerosis, developed and mainly used in Europe.1266 (See also Confavreux C. et al. 1. Burst–suppression pattern should have EDMUS, a European database for multiple generalized flattening at standard sensitivity sclerosis. JNNP 1992;55:671–6) A scale of for 1s at least every 20 s. 2. Suppression for impairment is incorporated. See also COSTAR and Minimal Record of Disability. this category; voltage criteria should be met for entire record. 3. When more than one category applies, select the most serious: edrophonium (tensilon) A synthetic substance with a transient cholinergic effect Suppression is the most serious form and epileptiform activity is more serious than at the motor end plate. See Tensilon Test. categories 1 or 2. See also coma. EDS See excessive daytime sleepiness. Edwards syndrome A congenital
dysmorphic syndrome manifesting also generalized obesity, deafness, retinitis pigmentosa, pendular hallux occurring when the leg is maintained nystagmus acanthosis nigricans, straight and the hip is flexed. This is usually hypogonadism, glucose intolerance, and a sign of meningeal irritation, but it is also mental and developmental delay.1810 See present in some patients with raised trisomy 18 syndrome. intracranial pressure. EEG Abbreviation for electroencephalogram. edema See cerebral edema.
Edelmann great toe phenomenon Dorsiflexion of the
EEG Clinical Neurophysiology See Clinical Neurophysiology. A subspecialty neurological journal and the official organ of the International Federation of Clinical Neurophysiology. Web site: http:// www.elsevier.com/inca/publications/store/ 6/0/1/5/2/8/index.htt/.
EEG telemetry Techniques which enable the recording of the EEG for long periods on equipment remote from the patient, transmitted usually by cable, radio, or telephone systems. effective osmolarity (in mOsm/L) 2[Naþ þ Kþ (mEqL)] þ plasma glucose (mg/dl)/18 A value greater than 320 mOsm per liter reflects hyperosmolarity and greater than 350 mOsm per liter indicates a severe hyperosmolar state with lethal potential.
efferent Poor outcome is related to age as well as elevated blood urea nitrogen (BUN) and sodium concentrations. The syndrome may be complicated by thromboembolic events, aspiration, and rhabdomyolysis.
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peroneal weakness after trauma. Its etiology is considered to be conditioning rather than hysteria.3113
neurologist at Uppsala.
Ekbom syndrome 1. See restless legs Ehrlich, Paul (1854–1915) German
physician who demonstrated the existence of efferent (from Lat, to bring out) Bearing a blood–brain barrier in 1885, when he something away from a site; as with motor found that every organ in the body except the nerves in which electrical impulses pass from brain took up vital stains injected into the the center to the periphery. blood. As a neurohistologist, he introduced methylene blue as an intra vitam stain for efferent nerve A nerve in which the nervous tissue. direction of physiological conduction is away from the central nervous system and toward a Ehrlicosis (human monocytic Ehrlicosis) muscle or a sweat gland. A tick-borne infection due to the rickettsial effort headache See benign exertional bacterium E. chaffeensis producing clinical signs of infection, multisystem involvement, headache. pancytopenia, elevated BUN, hepatitis and, effort syndrome See chronic fatigue in the nervous system, evidence of meningoencephalitis with meningism, syndrome. seizures, and coma. The CSF contains Egger syndrome (Joubert syndrome increased protein and neutrophilic or lymphocytic pleocytosis. Perivascular and with orofaciodigital anomalies) A intramural mononuclear cell infiltrates are congenital dysmorphic syndrome, found in the leptomeninges and Virchow– manifesting also apnea or tachypnea, Robin spaces.2550 polydactyly, brain tumors, cerebellar ataxia, and mental and developmental delay. See E:I ratio In autonomic testing, the ratio also Joubert syndrome. of the longest electrocardiographic R–R interval during expiration to the shortest Ehlers Danlos syndrome (cutis during inspiration. Primarily, it is a measure laxa, Chernogubov syndrome) A of the parasympathetic control of the heart dominantly inherited syndrome of rate. See expiration:inspiration ratio. mesodermal lesions of the collagen and elastic tissues, comprising narrow face, hyperelasticity and fragility of the skin, Eichorst, Herman Ludwig hypermobility of joints, easy bruising, (1849–1921) German physician who spontaneous rupture of the heart or lung, and graduated from Ko¨nigsberg. After posts held arterial aneurysms, such as carotid-cavernous in Germany, he was appointed professor of fistulas.1819, 2541 Among the seven medicine at Zurich. In 1873 he described a subvarieties distinguished, X-linked and form of peripheral motor neuropathy recessive forms are also recorded. In the (Eichorst neuritis) affecting the legs only, genetically heterogeneous Type IV, which was probably a hereditary motor and aneurysms, dissections, and spontaneous sensory neuropathy. arteriovenous fistulae are potential complications. eidetic An unusually clear mental image, The first reports were by Van Meekeren in perceived as though it were actually visible. 1682 and by A.N. Chernogubov, a Russian physician, in 1892. E. Ehlers (1863–1937) eight-and-a-half syndrome The was professor of clinical dermatology in combination of a VII nerve palsy and a Copenhagen, Denmark; H.A. Danlos one-and-a-half syndrome as a result of a (1844–1912) was a French dermatologist. lesion of the lower pontine tegmentum.1817
Ehret syndrome Paralysis following a painful injury, leading to the persistent assumption of the least painful posture, resulting in muscle atrophy and contractures. The condition was described by Ehret in 18981822 among patients with
Ekbom, Karl Axel Sr. Swedish
syndrome. 2. Delusional parasitosis.
Ekman–Lobstein syndrome A dominantly inherited cochleovestibular atrophy with onset in young adult life. See Van der Hoeve phakomatosis. Ekiri An encephalopathy associated with shigellosis reported from Japan, but now almost eliminated as a result of public health measures. It presents in the same way as shigella encephalopathy and may also be fatal.
elderly gait See cautious gait. electric chorea See Dubini disease. electric feet syndrome See burning feet syndrome.
electric shock Exposure of the body to high-voltage electrical currents, which may lead in the acute phase to local burns, ventricular fibrillation, and such neurological complications as respiratory center paralysis, spinal atrophic paresis, cerebral edema, intracranial hematoma, brainstem syndromes, myelopathic spastic paraplegia,6386 hemiplegia, radiculopathy, severe axonal neuropathy, or heat-induced myopathy,1970 and in the longer term to syndromes resembling amyotrophic lateral sclerosis3147 as well as to optic atrophy, retinopathy, cataract, involuntary movement disorders, and various patterns of upper or lower motor neuron lesions, from which latter recovery may not occur. See also lightning encephalopathy and lightning polyneuropathy.
electrical inactivity See electrical silence.
electrical nystagmus See vestibular nystagmus.
electrical silence The absence of measurable electric activity in a tissue.
Eisenson examination for aphasia A clinical instrument
electrical status epilepticus in
comprising 37 subtests, designed to provide (slow-wave) sleep (ESES, epilepsy a protocol for examining the type and with continuous spike-waves during sleep) severity of language and related deficits.1826 An uncommon epileptic encephalopathy
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of infancy and childhood presenting with continuous and diffuse spike-and -slow wave complexes that persist through nonrapid eye movement sleep. The disorder is most commonly seen in children before the age of 5 years; it starts with nocturnal focal motor seizures before the appearance of one or another seizure type, including almost all forms of generalized or partial motor seizures and brief absence attacks. The EEG during wakefulness may show a combination of focal and generalized spikes, while in sleep periods of almost continuous, mainly bisynchronous 1.5–2 Hz (and 3–4 Hz) spikes and waves occur during non-REM periods. Withdrawal, hyperkinetic behavior, impaired language development, memory and orientation, and a global reduction in intelligence are notable for a few years, after which both the electrical and the clinical features remit and the child’s behavior returns toward normal.4931 However, despite the usually benign evolution of seizures, the prognosis is guarded because of the occasional later appearance of neuropsychological disorders.1264 Distinction from Lennox–Gastaut syndrome and from Landau–Kleffner syndrome is difficult.6833, 4882 This seizure syndrome results from the association of various seizure types, partial or generalized, occurring during sleep, and atypical absences when awake. Tonic seizures do not occur. Diagnostic criteria have been suggested by the American Academy of Sleep Medicine.1629 (See Chart E–1.)
electrically silent cramps Painful prolonged muscle contractures provoked by depletion of muscle energy stores
single fiber, and macro-EMG needle electrodes. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind electroanalgesia The reduction of pain by stimulation of sites in the central or permission of the AANEM.) peripheral nervous systems. electrode impedance The electrocochleography A technique opposition to the flow of an AC current through the interface between an electrode for assessing the electrical output of the cochlea and VIII cranial nerve in response to and the scalp or brain, expressed in ohms (generally kilohms). This is measured auditory stimulation, by means of a recording needle electrode inserted through between pairs of electrodes, or in some EEG machines, between each individual electrode the tympanic membrane.5087 The test has and all the other electrodes connected in been considered to be of value in the parallel. Over the EEG frequency range, diagnosis of vestibular Schwannomas (acoustic neuromas), but MRI scanning and because the capacitance factor is small, electrode impedance is usually numerically brainstem auditory evoked responses are equal to electrode resistance. The term is not much better. a synonym for input impedance. electrocorticogram (corticogram) electrode resistance The opposition The record of EEG activity obtained by means of electrodes applied directly over or to the flow of a DC current through the interface between an EEG electrode and the inserted into the cerebral cortex. scalp or brain, expressed in ohms (generally kilohms). This is measured between pairs of electrocorticography (corticography) The technique of recording electrodes, or in some EEG machines, the electrical activity of the brain by means between each individual electrode and all the of electrodes applied over or implanted into other electrodes connected in parallel. Measurement of electrode resistance with the cerebral cortex. DC currents results in varying degrees of electrode A conducting device used to electrode polarization. See also electrode impedance. record an electric potential (recording electrode) or to deliver an electric current electrodermal response See (stimulating electrode). In addition to the ground electrode used in clinical recordings, Galvanic skin response. two electrodes are always required either to record an electric potential or to deliver a electrodiagnosis (EDX) The stimulus. See ground electrode, recording recording and analysis of biologic electrical electrode, and stimulating electrode. See also potentials from the central, peripheral, and specific needle electrode configurations: autonomic nervous systems and from monopolar, unipolar, concentric, bifilar muscles, for medical purposes. See also recording, bipolar stimulating, multilead, electromyography, electroneurography, unaccompanied by EMG activity. See glycogenoses; rippling muscle syndrome, Brody syndrome, and myoedema.
Chart E–1. Diagnostic Criteria for Electrical Status Epilepticus in Sleep A. B. C. D.
The disorder is usually asymptomatic, but there may be a complaint of difficulty in waking up in the morning. Frequent, but not constant, association with epilepsy, particularly typical absences or infrequent, partial, or generalized motor seizures. The age of onset is typically in childhood. Polysomnographic monitoring demonstrates: 1. Continuous, generalized spike- and slow-wave discharges persisting through nonrapid eye movement sleep stages 2. A spike-wave (SW) index ranging from 85 to 100% 3. Disappearance of the electrical status during REM sleep.
E. Other medical or psychiatric disorders can be present, particularly other seizure disorders. F. Does not meet the diagnostic criteria for other sleep disorders that occur during sleep. Adapted from the International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Medicine. 1991/ 2001. Reproduced by kind permission of the Academy. See also sleep disorders and the Web site: http://www.sleepeducation.com/Disorders.aspx/.
electrodiagnostic medicine electroneuromyography, and evoked potential studies.
electrodiagnostic medicine An extension of the clinical examination of the patient, wherein the physician integrates information obtained from the clinical history and physical examination of the nervous, muscular, and other systems to diagnose and treat diseases of the central, peripheral, and autonomic nervous systems, neuromuscular junctions, and muscles19 by means of EMG and/or nerve conduction studies.
electroencephalogram The record of electrical activity of the brain made by means of electrodes placed on the scalp or from implanted electrodes. Although this represents the hallowed use of the word that will not now be changed, electroencephalogram is by derivation the correct term for the machine and electroencephalograph properly used for the printout. electroencephalography (EEG) The procedure of recording cerebrally derived potential changes, using electrodes placed either on the surface of the scalp, upon the dura, or within the brain, with huge amplification. Richard Caton (1842–1926), professor of physiology in Liverpool, England, first made recordings of the action currents from the brains of rabbits in 1875, but Johannes (Hans) Berger (1873–1941) recorded the alpha and beta rhythms from humans in 1929.5619 He received, however, less credit than did Lord Adrian, who was awarded the Nobel Prize for his confirmation of ‘‘Berger rhythms’’ in 1934. The basic science and clinical utilization of the EEG were succinctly reviewed in 1994.647 Electroencephalography and Clinical Neurophysiology (EEG Clin Neurophysiol) A neurological subspecialist journal published by Elsevier Scientific Publishers Ireland Ltd. See Clinical Neurophysiology. Web site: http:// www.sciencedirect.com/science/journal/ 00134694/.
electromagnetic flowmeter A device able to measure the direction and volume of flow through blood vessels, but not now in use.2748
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electromyelography The recording
electroneurography The recording and study of electrical activity from the and study of the action potentials of spinal cord and/or from the cauda equina.162 peripheral nerves. See nerve conduction studies.
electromyogram Equipment used to activate, record, process, and display nerve and muscle action potentials for the purpose of evaluating nerve and muscle function. The machine used to perform electromyography. As with electroencephalogram, the terms generally employed represent a reversal of the correct usage, -gram properly denoting recording equipment and the -graph, writing. The small lapse is regrettable but there is nothing that mere writers of books like this one can do about it.
electroneurography index An index based on 12 electrophysiological parameters such as conduction velocities, F wave latencies, and amplitudes, providing an overall assessment of peripheral nerve function longitudinally.5943
electroneuromyography (ENMG) The combined studies of electromyography and electroneurography. ENMG is synonymous with clinical electromyography. ‘‘Electrodiagnostic medicine consultation’’ is the currently favored term.19
electromyograph The record obtained in electromyography. See comment electronystagmography The on electromyogram. detection and recording of the movement of the dipole normally arising from the slight electromyography (EMG) Strictly electric field (1 mV) between the cornea and the retina, as a subject follows a target. This defined, the recording and study of is the electrophysiologic equivalent of visual insertional, spontaneous, and voluntary inspection of eye movements while electrical activity of muscle by means of obscuring fixation with high diopter or mono- or bipolar needle electrodes, but commonly used to refer to nerve conduction Fresnel lenses and is useful to confirm the presence of nystagmus in the ‘‘dizzy’’ patient. studies as well. The myofibrillar or motor unit action electrooculogram (corneoretinal potentials are amplified and recorded on a cathode ray oscilloscope, a parallel lead to a potential) A record of the standing potential between the cornea and the posterior pole of loudspeaker allowing auditory as well as visual sampling by the electromyographer. the eye, measuring a function of the The test is slightly painful, but, unless a vital photoreceptors and the pigment epithelium. The test is of some value in the organ or nerve is punctured by the needle, determination of the state of the retina, but and provided absolute sterility is maintained, it represents a safe and valuable the electroretinogram gives more information.232 extension of the clinical examination. The procedure can demonstrate which muscles have lost all or part of their nerve electro-olfactogram A record of the supply (thus permitting an accurate potential changes in the olfactory mucosa in determination of the extent of the root or response to a stream of air charged with nerve lesion); can determine the amount of odoriferous particles. denervation or of the degree of recovery from that; and can inform about the presence of electroretinogram (ERG) A signs of end plate or primary muscle diseases. recording of the voltage change in the retinal A handful of the latter present characteristic cells in response to a flash (FERG) or electrical features, most show nonspecific changing pattern (PERG) stimulus. Because evidence of myopathy only, and some are not the FERG is not affected by ganglion cell accompanied by electrical abnormalities. disease and is thus normal in disorders Pathological diagnosis is almost never affecting the afferent visual pathway, it is an possible with EMG alone. Single-fiber EMG indicator of the presence of lesions of the 3435 is a refinement of the technique. retinal cells. Although the PERG does appear The first EMG was recorded in humans by to depend on the integrity of these cells, its Probster in 1928; Adrian introduced coaxial clinical utility is marginal because of reduced needles in the following year. reliability of the results. By varying the
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pencil through a lattice, covering as many of the dots randomly placed on the intersections as possible. Untimed, the test distinguishes subjects with right hemisphere damage; with time constraints, those with electrotonus The condition of a muscle aphasia do especially poorly.3825 caused to contract by a Galvanic current, elk (alces malchis) A species of antelope, described in 1843 by E´mile du once thought to be especially susceptible to Bois-Re´ymond (1818–1896), a German epileptic seizures which it was, however, able physiologist. to cure by putting its left hoof into its ear. See also prion diseases. elementary motor seizure A seizure manifesting as contractions of a Ellenberg syndrome See diabetic single muscle or group of muscles that is neuropathies. usually stereotyped and not decomposable into phases. (However, see tonic seizures.) Elliott syndrome A congenital dysmorphic syndrome manifesting also short elementary seizure A seizure stature, deafness, blepharophimosis, comprising a single manifestation of activation of one primary sensory modality, disordered sexual differentiation, delayed for example, somatosensory, visual, auditory, closure of fontanelles, and mental and olfactory, gustatory, epigastric, or cephalic. developmental delay. frequency or wavelength of the stimulus, the test can distinguish between disease of the rods and of the cones, or it can assess the retinal adaptation of the subject.4854
elementary tics (simple tics) See tics. Elliptic nystagmus See circular nystagmus.
elephant a sign The appearance on the
Ellis gargoylism See T2-weighted MRI scan of hippocampal atrophy, fancifully described in, for example, mucopolysaccharidoses. Alzheimer disease.5648
elephantiasis anesthetica See leprosy.
Elevated Arm Stress Test (EAST) Elevation of the arms for 3 min (in the surrender position) induces the symptoms of thoracic outlet syndrome.5375 What this means in terms of the underlying pathology is quite uncertain. See also Wright maneuvre.
elevator nystagmus See optokinetic nystagmus.
elfin face syndrome See Williams syndrome.
elicited repetitive daily blindness A dominantly inherited syndrome of repetitive, transient (about 10 s), uni- or bilateral visual loss recurring many times daily. The condition segregates with familial hemiplegic migraine and childhood epilepsy.3735
The syndrome was first described by Benjamin-Joseph Logre, a French psychiatrist who reported the case of PaulEugene-Louis Deschanel, the then President of the Republic of France, in the French newspaper La Monde (May 1–3, 1948). Decharnel had taken barbiturates on a train journey, lost consciousness, and fell out of the carriage window without noticing it; he regained consciousness in a ditch and was eventually restored to the Elyse´e Palace, where subsequently he presided with his customary lucidity. Logre detected a similarity between this incident and one related in the Odyssey—the story of Elpenor, the youngest companion of Ulysses, who according to legend fell off a terrace and broke his neck on awakening from a drunken sleep. Logre advised that hosts who offer their guests a bed for the night after a convivial evening should provide them with a ground floor room, but today the offer of a taxi is deemed adequate.
Elsahy-Waters branchioskeletogenital syndrome A congenital, autosomal, or
X-linked recessively inherited dysmorphic syndrome manifesting also strabismus, Ellis–van Creveld syndrome ptosis, nystagmus, fusion of vertebrae, (chondroectodermal dysplasia) A genital and skeletal maldevelopment, congenital, recessively inherited dysostosis (a seizures, and mental and developmental disturbance in bone form or modeling due to delay.1849 a disturbance in developmental ectodermal or mesenchymal tissues).1845 The clinical Elsberg, Charles A. American features include shortening of the tubular surgeon, professor at New York University. bones, especially distally, with resultant His definitive book Surgical Diseases of the dwarfism; polydactyly; small, delayed, and Spinal Cord and its Membranes (Philadelphia, defective teeth and nails; congenital heart disease; and cataract and strabismus. Mental Saunders) was published in 1916. delay has also been described. The condition has been found mainly in Elsberg syndrome Polyradiculitis (or radiculomyelitis) of the cauda equina, with an Old Order Amish kinship in 1850 Pennsylvania,4243 but it has been suggested urinary retention and CSF pleocytosis. The condition may complicate genital that the English King Richard III suffered herpes (HSV-2), borreliosis, or isolated from it too.79 angiitis of the nervous system, but is probably most often a variant of acute eloquent cortex Those parts of the cerebral cortex concerned with the faculty of inflammatory demyelinating neuropathy with particular autonomic involvement. speech.
Elpenor syndrome An allegorical name for the behavior of people who become somnolent after ingesting alcohol or drugs and awaken in unfamiliar surroundings where they commit acts that are destructive, Elithorn Perceptual Maze Test antisocial, or frankly illegal. After regaining awareness, the patients have only vague A nonverbal intelligence test in which the subject is required to trace a pathway with a recollections of the events that transpired.
Ely sign A test in which the knee is flexed and the hip hyperextended with the patient lying prone. L.W. Ely (1868–1944), an American orthopedic surgeon, showed that the elicitation of pain by this maneuver indicates the presence of psoas irritation or hip joint disease. See also femoral stretch test.
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embolalia The interposition of
Emery–Dreifuss syndrome
meaningless words into spoken speech; two subtypes are distinguished: angiophrasia and logospasmus choreiformis.
(Emery–Dreifuss humeroperoneal muscular dystrophy, Cestan–Lejonne syndrome) Heterogeneous, uncommon, slowly progressive X-linked muscular dystrophies (laminopathies) with childhood onset, exhibiting initially biceps and triceps, then pelvic and later pectoral girdle weakness; facial weakness; rigidity of paraspinal muscles; cardiac muscle involvement with conduction defects including complete heart block; features of the scapulohumeroperoneal syndrome; and early muscle contractures at the elbow, ankle, and neck without muscle pseudohypertrophy.1854, 5444 The responsible (emerin) gene is localized at Xq28.
embolism (from Gr, to throw in) Vascular obstruction by a blood clot or other material (such as air, amniotic fluid, cholesterol, cardiac valvular material, fat, or tumor cells) carried to the site of obstruction in the circulation. The concept was first enunciated by Virchow. embolization A technique in surgery or interventional radiology whereby inert spheres are introduced into the artery supplying an arteriovenous malformation in order to reduce the blood flow within it and to effect shrinkage of the lesion.2169
A neurogenic basis has been considered likely in some of the reported cases, a myopathic cause in others; the clinical pattern is embouchure dystonia A focal task- constant, however. specific dystonia affecting the embouchure Variant forms include the following:
(the pattern of lip, jaw, and tongue muscles used to control the flow of air into a mouthpiece) of professional brass and woodwind players. It usually develops in the fourth decade, initially unilaterally, but progresses without remission and responds poorly to oral medications and botulinum toxin injection. Embouchure tremor, involuntary lip movements, and involuntary jaw closure are other forms described.
embrace reflex See Moro reflex. embryofoetal valproic acid syndrome See fetal anticonvulsant syndrome.
embryoma of head and neck See dermoid cyst.
benign muscular dystrophy with contractures.335 benign X-linked muscular dystrophy with cardiomyopathy.6587 Emery–Driefuss syndrome with dominant inheritance (see autosomal dominant humeroperoneal myopathy) A dominantly inherited proximal myopathy which in every other way resembles this condition but which is due to a mutation on the laminin A/C gene at 1q21.2–q21.3.2377, 4372, 2005 rigid spine syndrome A forme-fruste of the same condition, occurring sporadically. X-linked muscular dystrophy with humeropelvic distribution, contractures, and cardiomyopathy A similar condition with infantile onset.3239 X-linked scapuloperoneal syndrome.
movements can be made voluntarily. The condition is rare; it may be explainable if the descending fibers to the facial nerve nucleus and regulating emotional movements arise in the basal ganglia and descend in pathways other than the corticobulbar tracts.
emotional incontinence See emotionalism.
emotionalism (involuntary crying, pathologic emotionality, forced crying, pseudobulbar affect, organic emotionalism, emotional incontinence, spasmodic crying, inappropriate crying, pathological affect) The involuntary expression of emotion without the experience thereof. The use of this word is advocated in preference to the alternatives proposed.139 Crying, laughter, and rage are the emotions most often expressed, usually in the context of brain disease from any cause affecting the descending motor pathways bilaterally and accompanying depression.
empiric (from Gr, deduced from experience alone) A practitioner whose skills are derived from experience. The Empirics were an ancient sect of physicians opposed to the Dogmatists; they admitted experience as the sole basis of medicine, this based upon chance observation or reporting, on trials and on imitation. They dismissed speculation and also rejected the value of anatomy and physiology.5103 emprosthotonos The converse of opisthotonos, in which tonic flexor rather than extensor spasms occur in patients with tetanus, leading to truncal hyperflexion.2531
empty delta sign (negative delta sign) EMG Abbreviation for electromyography. The appearance on enhanced CT scans in a
patient with occlusion of the superior sagittal sinus; normally the sinus represents a Internet-based neurology textbook from refraction, such that the image of an object triangle with its base upward, but in this WebMD, but requiring registration. Web at infinity is focused naturally and precisely case the surrounding area is enhanced but the site: http://www.emedicine.com/neuro/. on the retina. sinus fails to fill, leaving this pale triangular area in contrast. See also dense triangle sign. emergency light reflex emotion (from Lat, to move away) A Constriction of the pupils, tight closure of moving of the mind; conscious or empty sella headache Typically, a the eyes, flexion of the neck, and sometimes unconscious stimulation to perform some chronic, unilateral frontotemporal headache elevation of the arms in response to a sudden action. ‘‘Emotion moves us; hence its name’’ with facial and laterocervical threatening stimulus. (Sir Charles Sherrington). dysesthesias,4474 but variable in nature and differentiated from migraine and tensionEmery–Dreifuss type headaches by exclusion or in retrospect. emotional facial palsy (mimetic humeroperoneal muscular facial palsy) Loss of movement of the lower dystrophy See Emery–Dreifuss quadrant of the face during emotional empty sella syndrome (intrasellar movements (such as laughter), although such arachnoid diverticulum, deficient sellar syndrome.
eMedicine Neurology A free
Emmetropia Normal ocular
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diaphragm, intrasellar cyst, intrasellar cistern) Herniation of the arachnoid containing CSF through a defect in the diaphragma sella, leading to compression of the pituitary gland.3337 The optic nerve may also herniate, with the production of a visual field defect and there is a possible association with complaints of headache, and with papilledema and endocrine disorders,4474 but otherwise the condition is asymptomatic and is usually detected by chance.
encephalitis subcorticalis chronica progressiva neologism.1337 2. The distinction and investment of a pathological lesion by a layer of tissue, either inflammatory or derived from the surrounding tissues.
encephalalgia An old term for head pain, wrongly used since the word derives from that for brain, which, unlike other cranial structures, is generally insensitive to pain.
Ence´phale A French neurological journal. Web site: http://www.elsevier.com/ The primary empty sella was defined as that wps/find/journaleditorialboard.cws_home/ which admitted significant amounts of air at pneumoencephalography in the absence 709657/editorialboard. of prior surgery or radiation therapy.4608 The secondary type was that in which such procedures had been undertaken or in which there had been prior increased intracranial pressure or shrinkage of a pituitary adenoma. Today the demonstration of low attenuation in the sella on CT scans would suffice for the diagnosis,1243 but while radiologically dramatic and sometimes associated with increased intracranial pressure, this appearance is also found in some normal subjects. The condition does not explain headaches unless there are other signs of increased intracranial pressure.
encephale isole´ An experimental physiological preparation, the transverse cut being at the level of the low medulla. The EEG of the animal shows a wakeful pattern. encephalic Within the head—through properly, within the brain. encephalion Diminutive of encephalon, applied to the cerebellum.
United Sates after 1918. Both before and since that time, sporadic cases of this disease have been recorded. von Economo’s account,6567 though based on fewer cases, is fuller than that of Jean Cruchet1363 which was actually published 2 weeks before; priority of publication led to a regrettable dispute. The tendency for Parkinsonian signs to follow encephalitis lethargica was remarked first by Achille Alexandre Souques (1860–1944), a French neurologist, in 1921.5962 Clinically, the disease was marked by fever, pharyngitis, generalized pains, skin rashes, malaise, and gastrointestinal complaints, and by such signs as extreme drowsiness, oculomotor pareses, delirium, and catatonia. Other presentations included an acute Parkinsonian state and a hyperkinetic syndrome with chorea and myoclonus.2686, 5169 The pathology was described by Lhermitte.3829 There is an encephalitis of the midbrain and basal ganglia, with lymphocyte (predominantly plasma cell) infiltration. Sequelae affect about 40% of those afflicted and includ tics, dystonias, akathisia, seizures, ataxia, and pareses; a Parkinsonian syndrome with oculogyric crises and narcolepsy, amyotrophy, emotional disturbances, and persistent sleep disorders are also recorded. About 40% of these patients succumb.6819 The nature of the disorder became clearer with recent examination of sporadic cases with a typical encephalitis lethargica phenotype. CSF examination showed elevated protein and OCB; MRI of the brain was normal or showed inflammatory changes localized to the deep gray matter; antistreptolysin-O titres are often elevated and almost all patients have auto-antibodies reactive against human basal ganglia antigens, indicating that this is likely to be a postinfectious autoimmune CNS disorder.1417 See also PANDAS and Sydenham chorea.
encephalitis (Gr, brain þ inflammation) 1. Inflammation of the The condition may present in infancy or substance of the brain, as opposed to its meninges only: A heterogeneous collection childhood, when there may also be found of diseases, classified by Greenfield2564 in pituitary–hypothalamic dysfunction, short 1950. 2. Nonsuppurative inflammation, stature, facial dysmorphism, spina bifida usually diffusely affecting the substance of occulta, hydrocephalus, mental or the brain with emphasis on the gray matter, developmental delay, and delayed skeletal producing perivascular and parenchymal maturation.5814 infiltration with inflammatory cells and neuronophagia and is due to any infectious or empty speech That type of conversation which communicates nothing chemical agent or autoallergic attack. Clinically, fever, headache, reduced levels in faultless grammar. When spoken in of consciousness, seizures, and mononuclear private circumstances it is suggestive pleocytosis in the CSF are the classic features. evidence of dementia, but it is commonplace Focal nonsuppurative encephalitis is also in official utterances, in which context it has no diagnostic value. See also cocktail party described, rarely; it is properly known as cerebral abscess. Diffuse infiltrations (e.g., syndrome. encephalitis periaxialis diffusa) are not truly classified here, despite the name.3233 enabling synkinesis The situation in See also herpes simplex encephalitis, which one arm can carry out an act only if the Japanese encephalitis, shiga toxin encephalitis periaxialis other one does the same thing. See alien encephalitis, Nipah virus encephalitis, West concentrica See Balo concentric hand syndrome. Nile encephalitis, and Lassa fever. sclerosis. enantesis (from Gr, to meet) The
encephalitis lethargica (von confluence of ascending and descending Economo disease, epidemic encephalitis, blood vessels, as with the internal mammary sleeping sickness) A polymorphic epidemic and the anterior spinal arteries. encephalitis which was recorded in Germany in 1712 and was widespread for a decade encapsulation 1. The process whereby following the influenza pandemic of 1916–1927, affecting the population of the bits of words are fused to form a
encephalitis periaxialis diffusa See Schilder disease.
encephalitis subcorticalis chronica progressiva See Binswanger disease.
encephalitis tremens
encephalitis tremens A rare condition described once in epidemic form in Nigeria,6877 but not encountered since.
330
encephalomyelitis with carcinoma Forms of paraneoplastic
syndrome including limbic (limbic dementia) and bulbar encephalitis, myelitis encephalocele (Gr, the brain þ a with predilection for the anterior horn cells, tumor) A rare congenital maldevelopment and ganglioradiculitis; usually with characterized by extracranial herniation of subacute progression and occurring in older part of the cerebral hemispheres such as the adults with bronchogenic (and less often occipital lobe, or of the cerebellum, through with stomach, breast, or ovarian) a midline cranial defect. Anterior encephaloceles carcinomas.2867 represent the same maldevelopment in the Clinically, an initial painful neuropathy is frontal region.5924 See also cephalocele. usually followed by the development of any combination of dementia, cerebellar and pyramidal signs, extrapyramidal findings, encephalocraniocutaneous and brainstem dysfunction with multifocal lipomatosis A congenital syndrome myoclonus, leading to death within 2 years. consisting of localized scalp alopecia, craniofacial lipomas, eyelid papules, encephalomyeloneuritis Usually a conjunctival nevi, porencephalic cysts, paraneoplastic syndrome (see seizures, and mental retardation.121 encephalomyelitis with carcinoma); but an identical syndrome is reported in subjects encephalocutaneous without detectable malignancy.3690 lipomatosis A congenital neurocutaneous dysmorphic syndrome encephalomyelopolyradiculocharacterized by cerebral atrophy with pathy A febrile illness of unknown cause, intracranial calcification, hydranencephaly characterized by evidence of involvement of or porencephaly, hydrocephalus, seizures, soft tissue tumors of the cranium and eyes, all the structures suggested in the title and leading to confusion, pain, paraparesis, and and mental and developmental delay.2661 loss of sphincter control.
encephalofacial angiomatosis See Sturge–Weber syndrome.
encephalography A radiological method for estimating the size of the ventricles at pneumoencephalography; now obsolete. encephaloid Resembling a brain. encephalolith A calcareous structure within the brain. Encephalolithiasis is that condition in which such accretions occur. encephalomalacia An area of softening of brain tissue occurring in the period immediately following its infarction.[JF] See multicystic encephalopathy. encephalomyelitis 1. Inflammation of the substance of the brain and of the spinal cord. 2. A paraneoplastic syndrome presenting as limbic or bulbar encephalomyelitis or with more generalized involvement associated with dementia, occurring most often in the setting of a small cell lung carcinoma. Antibodies such as antiHu and anti-Yo are commonly detectable.
encephalomyeloradiculitis See acute inflammatory demyelinating polyneuropathy.
encephalomyopathy with epilepsy, chorioretinitis, basal ganglion involvement, and muscle minicores A congenital muscular dystrophy complicated by psychomotor retardation, seizures, rigidity, chorioretinitis and bilateral basal ganglion, thalamic, cerebellar, and cerebral cortical MRI abnormalities.309 See also muscleeye-brain disease and Fukuyama muscle dystrophy.
encephalopathy/ encephalopathia Disease of the brain. In general usage, diffuse disorders affecting the greater part of the cortex and/or subcortical regions. See also dialysis encephalopathy, Dupre´ syndrome, ESES, hypertensive encephalopathy, metabolic encephalopathy, mitochondrial encephalomyopathy, parainfectious noninflammatory encephalomyelitis, portosystemic encephalopathy, rejection encephalopathy, shiga toxin encephalopathy, tacrolimus encephalopathy, uremic encephalopathy, Wernicke–Korsakoff encephalopathy, and the following entries.
encephalopathy of sepsis Diffuse cerebral disease producing depression in conscious level, multifocal EEG abnormalities, seizures, and focal neurological signs in the presence of chronic severe disseminated infection. The underlying pathology includes bacterial invasion of the brain with the formation of disseminated microabscesses, cerebral infarction, multiple, small white matter hemorrhages, central pontine myelinolysis, and possibly disturbances in cerebral synaptic transmission as a direct result of toxicity from the infecting agent.3119
encephalopathy score A scale for evaluating neonates with encephalopathy, able to predict neurodevelopmental outcome at 30 months of age.4376 Feeding, alertness, muscle tone, respiratory status, reflexes, and seizures are assessed daily for the first 3 days of life in the neonate who is neither sedated nor paralyzed. See also hypoxic-ischemic encephalopathy. encephalopathy with fatty degeneration of the viscera See Reye syndrome.
encephalon (Gr, In þ the head) (encephalos, encephalus, encephalum) Used encephalorrhagia Purpura of the brain, the blood damaging both myelin and synonymously with ‘‘the brain.’’ axons. encephalo-ophthalmic syndrome See Krause disease.
encephalos See encephalon.
encephalo-optic dysplasia See
encephalosyncope (vasovagal
Walker–Warburg syndrome.
attacks) Syncope, blurred vision, dizziness, abdominal sensations, or weakness with or without loss of consciousness, occurring in subjects with abnormal EEG records and
encephalopathie saturnine Lead encephalopathy.
end-plate potential (EPP)
331
considered to represent a minor seizure disorder triggered by cerebral ischemia. The term was suggested by Kershman in 1949 but did not find favor.
encephalotrigeminal angiomatosis See Sturge–Weber syndrome.
together with defective delayed hypersensitivity.2299 Neurological features include increased intracranial pressure with papilledema and intracranial calcification, seizures, mental retardation, muscle twitching, cramps, and rigidity.3246
endocrine exophthalmos See dysthyroid ophthalmopathy.
encephalum See encephalon. end-of-dose deterioration encephalus See encephalon. enchondromatosis A dysmorphic syndrome characterized by short stature, scoliosis, platyspondyly, mental and developmental delay, sclerosis of the skull with enchondromata, and skeletal cysts or tumors. See Maffucci syndrome. encycloduction See duction. end artery An artery which, uniquely, supplies a volume of tissue.
(wearing-off effect) A hypokinetic form of fluctuation in Parkinsonian patients on long term levadopa therapy, in which disability increases as the levadopa levels fall.
end-of-dose dystonia A form of fluctuation in Parkinsonian patients taking long-term levadopa therapy, in which dystonic movements appear as the levadopa levels fall.
endolymphatic hydrops See Me´nie`re disease.
end bulb (bouton terminale) The term endomysium (Gr, within þ muscle) employed by Krause for the expansions of the The connective tissue investing each myofibril. distal ends of sensory nerves. endarterectomy An open surgical
endoneurial area The total area of the
procedure whereby the stenotic or atheromaencrusted lining of the cervical carotid artery is reamed out or dissected in order to reduce turbulence and future platelet deposition and to increase flow. The procedure has been shown to reduce a symptomatic patient’s risk of stroke when the stenosis is between 70 and 99% of the lumen, but, with lesser degrees of narrowing and in asymptomatic people, whether or not it confers benefit is not yet determined.
nerve fascicles encompassed by the perineurium.
endarteritis obliterans (Heubner endarteritis) An inflammatory condition of the media and adventitia of the walls of large- and medium-sized arteries, associated with fibroblastic proliferation of the intima, and thus liable to cause occlusion of the vessel and distal infarction. This is a typical finding in secondary or meningovascular syphilis. endocranium The inner surface of the skull bones.
endocrine candida syndrome The association of candida with idiopathic hypoparathyroidism and Addison disease,
endoneurium (Gr, within þ nerve) The connective tissue investing each nerve fiber within a funiculus. endophasy The unspoken language of thought.
endorphins Opioid peptides. Among these, beta endorphin is a mediator of pain perception.
endosteal hyperostosis (van Buchem disease) A genetic craniotubular hyperostotic syndrome existing in two forms. Autosomal dominant osteosclerosis presents with hyperostosis and osteosclerosis of the skull, mandible, clavicles, and ribs and long bone diaphyseal hyperplasia; VII and VIII cranial nerve deficits may occur.6874 In the autosomal recessive form, the symptoms are similar but more severe.6474
end plate The specialized receptor area on the muscle membrane at the neuromuscular junction.
end-plate acetylcholine receptor deficiency A congenital myasthenic syndrome.1866 See myasthenia gravis.
end-plate acetylcholinesterase deficiency A congenital myasthenic syndrome.1866 See myasthenia gravis.
end-plate activity Spontaneous electric activity recorded with a needle electrode close to muscle end plates. These potentials may have several different morphologies. 1. Monophasic: Low amplitude (10–20 mV), short duration (0.5–1.0 ms) negative potentials occurring in a dense, steady pattern, the exact frequency of which cannot be defined. These nonpropagated potentials are probably miniature end-plate potentials recorded extracellularly. Referred to as end-plate noise or seashell sound (seashell roar or noise). 2. Biphasic: Moderate amplitude (100–300 mV), short duration (2–4 ms), initially negative spike potentials occurring irregularly in short bursts with a high frequency (50–100 Hz). These propagated potentials are generated by muscle fibers excited by activity in nerve terminals. These potentials have been referred to as biphasic spike potentials, end-plate spikes, and incorrectly, nerve potentials. They may also have a biphasic (initially positive) morphology. 3. Triphasic: Similar to biphasic potentials, but the waveforms have three phases with an initial positive deflection. Fire in an irregular fashion; contrast with fibrillation potential. From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.
end-plate noise See end-plate activity (monophasic).
end-plate potential (EPP) The graded nonpropagated membrane potential induced in the postsynaptic membrane of a muscle fiber by release of acetyl choline from the presynaptic axon terminal in response to an action potential. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by permission of the AANEM.)
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end-plate spike See end-plate activity enhanced physiological tremor (biphasic).
A physiological postural tremor of greater than normal amplitude but of rather high end-plate zone The region in a muscle frequency (8–12 Hz), resulting from the unusual synchronization of motor unit where neuromuscular junctions are discharges and frequently associated with concentrated. hyperadrenergic states such as anxiety and 2052 end-point nystagmus (end-position some toxic and metabolic syndromes. nystagmus) A form of ill-sustained, irregular, enhanced ptosis Relatively increased low-amplitude, physiological, gaze-evoked, drooping of one eyelid when the subject with jerk nystagmus of small (0.5–3 mV) amplitude, at a frequency of 1–3 Hz, seen best myasthenia gravis looks upward, while the other eyelid is also elevated but is in the abducting rather than the adducting maintained in that position by the eye during maintained far lateral gaze. It probably represents physiological fatigue in examiner’s finger. In a variation of the response, the the oculomotor muscles.34 If far lateral gaze is descending eyelid oscillates to a point of prolonged, fatigue nystagmus, a different complete closure.2493 phenomenon, may also ensue. See also physiological nystagmus. enkephalins A class of opioid pentapeptides (meta- and leuenkephalin) end-position nystagmus See widely distributed in the brain and spinal end-point nystagmus. cord (nucleus of the V nerve, substantia gelatinosa) in areas relevant to the enervate (from Lat, to weaken) To be transmission of pain impulses. without energy; the state of weakness.
ENG Abbreviation for electroneurography and also for electronystagmography.
ENMG See electroneuromyography. enolases A family of glycolytic dimeric enzymes. Neuron-specific enolase is usually
Engelhard syndrome A dysmorphic found in ganglion cells but is not restricted syndrome characterized by ptosis polydactyly, syndactyly, microcephaly, intracranial epidermoid and other tumors, and a liability to meningitis.381
to them.
enteric brain (enteric nervous system)
Networks of ganglion cell bodies, preganglionic parasympathetic and Engelmann disease See progressive postganglionic sympathetic fibers with their interneurons, arising from the neural crest diaphyseal dysplasia. and forming the myenteric and submucosal English Malady Usually characterized plexuses of the gastrointestinal tract. It can function independently of the central as hypochondriasis but also including symptoms of depression, cramps and spasms, nervous system. Disorders arising from the palsy, abnormal involuntary movements, and enteric nervous system include Allgrove syndrome, achalasia, familial visceral fainting spells; all ascribed by Cheyne (G. Strahan and Leake, London & Bath, 1783) neuropathy and myopathy, Hirschprung disease, MNGIE, acute intestinal ileus, and to ‘‘weak nerves’’ and to the poor English intestinal pseudo-obstruction.2535 climate of the time. See Cheyne disease.
local defects in the vertebral bodies. See neurenteric cyst.
entomopia (from Gr, insect þ eye) A rare form of polyopia in which the subject sees multiple reduplicated images in rows and columns, as one supposes to be the experience of those insects possessing compound eyes. The phenomenon has been reported as a result of lesions of the cornea or lens, and with lesions of the occipital lobe.3910 entomopia (from Gr, Insect þ eye) A form of polyopia caused by occipital lobe pathology, in which a subject experiences multiple copies of the same visual impression in a gridlike pattern.3910 entonia (Gr, tension) Tonic spasm. entopic images See entoptic images. entoptic images (entopic images) Those images that arise from within the optic globe itself.
entorhinal cortex The parahippocampal area.
entrainment Synchronization to external time cues.
entrapment neuropathy Neural deficits consequent upon nerve compression.3530
entrapped temporal horn ‘‘Obstruction of the trigone of the lateral ventricle which seals off the temporal horn from the rest of the ventricular system’’ causing homonymous hemianopia, memory disturbances and hemiparesis due to compression of the internal capsule.6665
entropion Inward turning of the eyelids. Cf. ectropion.
enuresis Recurrent involuntary micturition occurring during sleep in the left behind by psychical experience in the absence of any urologic, medical, or enteric nervous system See enteric psychiatric pathology. Diurnal and brain’s cellular network. A latent memory picture, a trace of things experienced. In the brain. nocturnal forms relate to the time of words of Penfield, ‘‘The writing left behind occurrence of enuresis, while paralytic and in the brain by conscious experience,’’4976 or, enterogenous cysts (enteric cysts) spastic forms relate to the lower or upper motor neuron lesions causing it respectively. as put by Critchley,1336 ‘‘a memory tracer in Extrinsic intraspinal cysts containing In a more restricted sense, the word is elements of gut (such as a mucin-secreting a conception of a word or phrase.’’ 2. A mucous membrane), situated usually in the applied only to involuntary micturition functional template, directing the subarachnoid space and associated often with during any phase of sleep in subjects with performance of skilled movements.
engram 1. The permanent impression
enteric cysts See enterogenous cysts.
eosinophilic polymyositis
333
eosinophilic fasciitis (Schulman syndrome) A syndrome occurring after a prodrome of fever, myalgia, arthralgia, and fatigue, in which there is tenderness and edema of the skin of the neck, trunk, and proximal limbs, which later becomes indurated or even leathery (‘‘peau d’orange’’), with patchy hyperpigmentation; interstitial myositis of subjacent muscles; eosinophilia; and painful distal joint contractures, synovitis, and nerve compression syndromes From AASM Diagnostic Classification Steering in many cases. The clinical features, mainly environmental dependency Committee. The International Classification of seen in adult males, may be precipitated by Sleep Disorders Diagnostic and Coding Manual. syndrome Complex behavioral vigorous exercise.5815 Accompanying Rochester, MN. American Academy of Sleep sequences in which the patient recognizes symptoms of carpal tunnel syndrome and Medicine 1991/2001. Reproduced by kind the environmental situation in which he eosinophilia and hypergammaglobulinemia finds himself (or accepts a suggestion as to its permission of the Academy). See also http:// are not unusual, and anemia, lymphoma, and www.sleepeducation.com/Disorders.aspx. nature) and acts out behavior which would leukemia have also been associated. The be appropriate in that situation, but which presence of the groove sign strongly suggests in fact is inappropriate for the subject to Environmental Status Scale the diagnosis.5847 See also eosinophiliaperform—such as watering someone else’s A rating scale designed to quantify the myalgia syndrome. garden, examining the physician’s throat, handicap experienced by patients with etc. In a variant form, patients are ‘‘forced’’ to multiple sclerosis.4296 See socioeconomic eosinophilic granulomatous comment verbally on situations and scale. See also Kurtzke disability status vasculitis See Churg–Strauss syndrome. activities occurring around them (forced scale. 6202 hyperphasia). The syndrome is considered eosinophilic myelitis Infection of the to represent a failure of personal autonomy, eosinophilia-myalgia syndrome spinal cord, usually with Angiostrongylus secondary to unilateral lesions of the frontal 3827 The occurrence of joint pain, generalized cantonensis or Gnathostoma sphingerum, leading lobe. myalgias which limit the subject in the to increased intracranial pressure, symptoms activities of daily living, and eosinophilia of meningitis, and sensory features typical of environmental sleep disorder A (>1 109 cells/l) in the peripheral blood transverse myelitis with radicular pain. sleep disturbance due to a disturbing and muscle infiltrates, in the absence of Obstructive hydrocephalus is also described. environmental factor that causes a other (infectious or allergic) disease.206 The infection is most often described in complaint of either insomnia or excessive Weakness, severe muscle pain, a South Pacific or Southeast Asian regions and sleepiness. Sleep efficiency and duration scleroderma-like skin rash, mouth ulcers, occurs after the ingestion of snails or fowls are normal, there are no psychological pruritus, angioedema, fever, abdominal cooked rare. factors which induce the disturbance of pains, and subcutaneous nodules also occur. Diagnosis is made through Giemsa sleep, and removal of the disturbing Evidence of myopathy or peripheral axonal staining of the CSF, which demonstrates the stimulus leads to eventual restoration of polyneuropathy is found in a quarter of the eosinophilia. ELISA antibody tests are normal sleep patterns. The following are subjects and cognitive complaints (of available at Mahidol University in Bankok. the AASM-suggested diagnostic fatigue, impaired memory and attention, criteria:1629 representing a selective dysexecutive eosinophilic perimyositis A syndrome) may persist long into the syndrome of relapsing myalgia accompanied A. A complaint of insomnia or excessive recovery period. The erythrocyte by nonspecific inflammatory features with a sleepiness. sedimentation rate is normal. perimysial infiltrate consisting of B. The complaint is temporally The syndrome has most commonly been eosinophils in muscles, but with minimal associated with the introduction of a described in women who had taken physically measurable stimulus or peripheral eosinophilia. Biopsy evidence of (allegedly contaminated) oral L-tryptophan fascitis is not found, there are no skin environmental circumstance that disturbs sleep. for premenstrual complaints, insomnia, or changes, and the response to antiC. The physical properties of the depression.2884 See also eosinophilic inflammatory agents is prompt, although environmental factor account for the fasciitis, eosinophilic perimyositis, and relapses can occur.5734 See also eosinophiliasleep complaint; the psychological eosinophilic polymyositis. myalgia syndrome, eosinophilic meaning of the environmental factor polymyositis, and eosinophilic fasciitis. does not account for the complaint. eosinophilic adenoma A benign D. Removal of the causative environmental tumor of the pituitary gland with a eosinophilic polymyositis A rare factor results in immediate or gradual restoration of normal sleep. propensity to secrete growth hormone and inflammatory disease of muscle in which E. The disorder has been present for more thus the usual lesion in patients with systemic visceral manifestations, including than 3 weeks. gigantism or acromegaly. encephalopathy and neuropathy, occur in normal daytime bladder control. It is considered abnormal in most cases after the age of 10 years. In primary enuresis, the child never achieves continuous dry nights, while in secondary enuresis the child has had at least 3 months of dryness then reverting to the pattern of enuresis, usually in the first third of the night. The episodes can also occur during nocturnal wakefulness.
F. Polysomnographic monitoring demonstrates normal sleep efficiency and duration. G. No evidence of significant underlying medical or psychiatric disorder accounting for the complaint. H. Does not meet the diagnostic criteria for any other sleep disorder causing a complaint of insomnia or excessive sleepiness, for example, toxin-induced sleep disorder.
eosinophilic vasculitis
334
latter arising from the filum terminale and bilateral symmetrical skin fold (the characterized by the presence of columnar epicanthal fold) runs vertically at the cells surrounding mucoid zones.6 A giant cell naso-orbital angle.4 variety is especially rare. epicrania fugax A stereotypical, ephapse A point of abnormal strictly unilateral, shooting paroxysmal pain communication where an action potential starting in the posterior parietal or temporal in one muscle fiber or axon can cause region and rapidly spreading forward to the depolarization of an adjacent muscle fiber ipsilateral eye or nose along a lineal or zigzag or axon, generating an action potential trajectory, the complete sequence lasting in it. Such abnormal electrical cross1–10 s. Attacks can be either spontaneous or communications formed between adjacent triggered by touch. The frequency ranges demyelinated axons are supposed to from two attacks per month to countless represent the result of prior local trauma. attacks per day, and the temporal pattern is eosinophilic vasculitis A component (From the 2001 Report of the Nomenclature either remitting or chronic.4892 Committee of the American Association of of the Churg–Strauss syndrome affecting Electromyography and Electrodiagnosis.19 the nervous system alone in rare cases as a epicranium The soft tissues attached to 5950 focal inflammatory encephalopathy. Reproduced by kind permission of the the outer surfaces of the skull bones below AANEM.) the pericranium. epaxial muscles (Gr, upon þ Lat, an axis) Those muscles which lie above the ephaptic transmission (axonal epicritic (from Gr, discernment or central axis of the embryo, divided between cross-talk) The situation in which nerve judgment) Superficial sensations, capable of dorsolateral and ventrolateral groups. compression and the resulting local precise appreciation and localization. This demyelination cause the spontaneous implies cortical assessment and perception of formation of a false synapse where ectopic ependyma (Gr, a cloak or upper the stimulus—for example, discriminative activity may be triggered by mechanical garment) The epithelial membrane lining light touch, direction of scratch, and the irritation, changes in regional electrolyte the ventricles and the central canal of the recognition of the finer gradations of concentration, or flow of extracellular spinal cord, named by Virchow. current during passage of nerve impulses in temperature into warm and cool. It is characterized by low threshold, short adjacent fibers (an ephapse).This ectopic ependymitis Inflammation of the latency, high adaptability, and accurate activity may then be conducted ependyma, either as part of a generalized localization and discrimination.2864 It meningitis or due to specific infections with, orthodromically or antidromically within returns later than protopathic sensation the nerve fiber. for example, toxoplasma. See also during the process of recovery from a nerve This may lead to pain (e.g., trigeminal ventriculitis. neuralgia, complex regional pain syndrome) injury. The word was employed by Sir Henry or motor manifestations (e.g., hemifacial ependymoblastoma A poorly Head; the other class of sensation which he spasm). It has been invoked to explain the differentiated, primary neuroectodermal defined, he called protopathic. repetitive firing of neurons in other chronic tumor arising in the fourth ventricle in denervating states such as radiculopathy.6345 children, characterized by the prominent epidemic chorea See hysteria. formation of perivascular pseudorosettes.6 See also myokymic discharge and complex repetitive discharge. ependymoma A primary epidemic convulsions Hysterical neuroectodermal malignant but slowly epi- Greek prefix, signifying ‘‘upon’’ or seizure-like movements (the Jerks and the ‘‘beside.’’ growing glial tumor arising from the Barks) witnessed during a period of ependymal lining of the ventricles, spinal fundamental religious fervor in Tennessee cord, or cauda equina occurring in childhood epiblepharon A craniofacial and Kentucky during the mid-eighteenth malformation, sometimes dominantly and occasionally in adult life. Their century and regarded then either as tokens of histological characteristics vary but include inherited, in which there is absence of the divine favor or as a form of chorea.6897 See the presence of ciliated cuboidal epithelial palpebral groove, due to maldevelopment of pseudoseizures. cells, rosettes of ependymal cells, the insertion of the levator palpebrae pseudorosettes, Rosenthal fibers, positive superioris muscle, with a horizontal fold of epidemic encephalitis See staining for S100 protein and glial fibrillary skin over the tarsal region, best seen on encephalitis lethargica. acidic protein but not carbonic anhydrase C, downward gaze.4 absence of a collagenous stroma, and, in wellepidemic myalgia See pleurodynia. differentiated forms, uniformity of nuclear epicanthis See epicanthus. morphology. Ependymoblastoma, epidemic myalgic subependymoma, and well differentiated, epicanthus (epicanthis) 1. The inner poorly differentiated, anaplastic, and angle of the eye. 2. A dominantly inherited encephalomyelitis (epidemic myxopapillary types are distinguished, the craniofacial malformation in which a myalgia) See chronic fatigue syndrome. conjunction with severe proximal or generalized muscle weakness or tenderness, localized painful swelling of muscles, and features of the hypereosinophilic syndrome. Myocarditis, pericarditis, and multiple mononeuropathy have been reported to occur in association with the disorder.3727 The condition may be a variant of the Churg– Strauss syndrome.3727 It differs from polymyositis in the number of eosinophils in the inflamed muscles. See also eosinophiliamyalgia syndrome and the preceding entries.
Epilepsia
335
epidemic neurolabyrinthitis See epidemic vertigo.
epidemic neuromyasthenia See postinfection fatigue syndrome.
epidemic neuromyelitis An acute illness resembling ascending infectious polyneuritis, seen in Rio de Janeiro in 1931 but not reported since. epidemic paralytic vertigo See Gerlier disease.
epidemic pleurodynia (Bornholm disease) A benign sporadic or epidemic localized inflammatory myopathy resulting from infection by coxsackie B viruses. Clinically, children are affected more often than adults, and they complain of headache, fever, and severe localized pain and tenderness in the muscles of the chest wall, shoulders, or back.
epidemic spastic paraparesis
neurological disorders are due to cortical dysgenesis and include mental retardation, cortical atrophy, seizures, hydrocephalus, hyperkinesis, and a variety of focal signs signifying cortical dysfunction, usually on the same side as any skin lesions present on the face or head.345, 2038 Colobomas of the iris, congenital cardiac anomalies, renal tumors, porencephaly, megalencephaly, sebaceous adenomas, skin pigmentation, asymmetrical limbs, and cerebral neoplasms are also described in this condition. A variant form comprises facial epidermal nevus, ipsilateral hemimegalencephaly, and gyral malformations, mental retardation, seizures including early infantile spasms, and, sometimes, facial hemihypertrophy.4943
epidermoid cyst (epidermoid tumor) A cyst composed of squamous epidermal cells in a fibrous and keratinized wall containing cholesterol, situated usually in the cisterns at the skull base, in the cerebellopontine angle, at the cauda equina level, or within the substance of the cord.558 See also dermoid cyst.
The sudden onset of spastic paraparesis associated with speech disturbances and visual complaints, occurring epidemically epidermoid tumor See epidermoid (and also sporadically) in central Africa. cyst. Recovery may be complete or dysarthria and paraparesis may remain. Both infectious and epidural abscess Pyogenic infection toxic causes have been suspected.1046 of the cranial or spinal meninges in which the pus lies external to the dura and adjacent epidemic vertigo (epidemic to the bone, mainly posteriorly and usually neurolabyrinthitis) Small epidemics characterized by the sudden onset of vertigo, at thoracic levels. The infection results from the spread of with accompanying nausea and vomiting local (vertebral) disease or from which become paroxysmal but with hematogenous spread and occurs most decreasing frequency and intensity; many commonly in immunocompromised or attacks follow upper respiratory or chronically sick people. The major clinical gastrointestinal symptoms, and a chronic features are rapidly progressive myelopathy asthenic phase is reported in a minority of with progressive paraparesis and sphincter 4961 cases. The etiology is not known. See involvement, and severe local and radicular vestibular neuronitis. pain with local tenderness.
epidermal nevus syndrome (nevus unis lateralis, epidermal nevus, ichthyosis linearis neuropathica, Feuerstein– Mills syndrome, linear nevus sebaceus syndrome) A rare, sporadic, congenital neurocutaneous syndrome. The skin lesions include raised, yellowbrown, verrucous skin lesions, and orangebrown waxy plaques; nevus unis lateralis; ichthyosis hystrix; acanthosis nigricans; midline linear sebaceous nevi on the scalp, neck, or face, with later hyperkeratosis and verrucous transformation. The associated
epidural ascending spinal paralysis See hypertrophic spinal meningitis and Spiller syndrome.
epidural space under sterile conditions in order to relieve postlumbar puncture headache, which it does safely and effectively in a high proportion of cases.2509
epidural electrode A recording electrode placed upon the dural covering of the cerebrum. epidural hematoma See epidural hemorrhage.
epidural hemorrhage (epidural hematoma, extradural hemorrhage, or hematoma) Bleeding outside the outermost layer of the dura mater, which is thus stripped away from the inner table of the skull or spinal canal. In almost all cases of intracranial epidural hemorrhage, the cause is traumatic, most often with rupture of the middle meningeal artery as a result of a fracture of the temporal bone. Traumatic spinal epidural hematomas are associated with fracture-dislocations of the spine and cause acute or subacute myelopathy. Nontraumatic (spontaneous) spinal epidural hematomas are usually venous in origin and occur in the setting of minor trauma, pregnancy, physical exertion, abnormal bleeding tendencies, etc.3716 epigastric aura An indescribable sensation in the pit of the stomach, sometimes rising to the head, occurring as the initial manifestation of some forms of complex partial seizure with origin in the temporal lobe. The lack of appropriate words which can be summoned up by the patient to describe his experience is a characteristic finding. epigastric reflex Light stroking of the skin downward from the nipple normally leads to contraction of the epigastric muscles. The reflex informs on the reflex arcs T5–T7, but, being a superficial reflex, it is lost with upper motor neuron lesions above these levels.
epigenetics The study of the
mechanisms of temporal and spatial control of gene activity during the development of anesthetic solutions into the epidural space complex organisms—thus, any aspect other in order to produce regional anesthesia. The than DNA sequence that influences the neurological complications of this technique development of an organism. have been reviewed.3283 Epilepsia A neurological subspecialty epidural blood patch A technique of journal, the official organ of the International League against Epilepsy. injecting autologous whole blood into the
epidural block The injection of
epilepsia arithmetices Address: Raven Press, 1185 Avenue of the Americas, Department 1B, New York, NY 10036. Web site: http:// www.epilepsia.com/.
epilepsia arithmetices The precipitation of epileptic seizures as a result of performing mental arithmetic.3090 A similar condition occasionally affects computers.
epilepsia cursiva (running fit) See cursive epilepsy.
epilepsia larvata A postepileptic phenomenon which Esquirol called ‘‘masked’’ epilepsy, referring to the confused speech and automatic movements made following a tonic-clonic seizure, which was in those days thought to be itself a seizure manifestation. epilepsia minoris continua See status epilepticus.
epilepsia nutans A discarded term for myoclonic epilepsy.
epilepsia partialis continua See partial continuous epilepsy.
epilepsie rotatoria See tornado epilepsy.
epilepsy (Gr, a seizure) 1. A tendency to recurrent epileptic seizures. This definition is not as silly as it sounds, because one seizure does not constitute epilepsy. 2. A condition characterized by recurrent (two or more) epileptic seizures, unprovoked by any immediate identified cause. Multiple seizures occurring in a 24-h period and an episode of status epilepticus are considered to represent a single event. Those who have had only febrile seizures or only neonatal seizures as herein defined are excluded from this category.1265 The condition was known to Hippocrates, who recorded it in children as ‘‘The Sacred Disease,’’2909 as epilepsy was then considered to be caused by a temporary departure of the soul from the body. Even in the past 100 years, attempts to call the soul back by waving a garment of the patient from the rooftops and banging gongs have been recorded in China. Hippocrates argued that it was a malady affecting the whole constitution and rejected the concept that it was a divine imposition. He also recognized that injury to one side of the brain may cause
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a seizure to occur on the other side of the body.1253 The word epilepsy was the invention of the Arab physician Avicenna. Previous names had included hieron nosema, nosema paideon, morbus lunaticus, morbus major sonticus, morbus caducus, Herculean disease (perhaps due to the strength of the convulsive movements) and the great evil. In England, Germany, and France it came to be known as the falling evil or the falling sickness. Focal (partial or localization-related) epilepsies were described by Bravais and later by Jackson, but had actually been recorded by Aretaeus nearly 1800 years before.235 The condition was well known in biblical times, accounts of the epileptic boy’s presentation to Christ appearing in the Gospels of St. Luke and St. Mark (chapter 9). At this time, the condition was popularly regarded as evidence of demoniacal possession; and in Rome, gatherings were discontinued when an attender had a seizure, and Romans spat in the street when they passed an epileptic person, a custom which survived until the end of the eighteenth century in France. With medicine impotent to help, such reactions may have prompted the frequent appeals made to many saints, of whom 37 (ranging from SS Sebastian and Valentine to St. Edward the Confessor) have been considered to have an especial interest in the subject. Sauvage in 1750 collected all extant work on the subject, including Boerhaave’s classification of the causes and description of the sign, in his book Nosologie d ’Epilepsie. Pinel (who regarded epilepsy as a neurosis, i.e., something caused by a neurological disorder) established a hospital for epileptics at the Salpeˆtrie`re in 1795, generating a large research output on the subject. Effective treatment began with Sir Charles Locock’s introduction of bromides; Hauptmann’s publication on phenobarbitone occurred in 1910,2794 and Merritt and Putnam synthesized phenytoin in 1934. Among those claimed to have been subject to seizures (not always on good evidence) have been St. Paul, Julius Caesar, Caligula, Germanicus Brittanicus, Mahomet, Charles V, at least one Holy Roman Emperor, Peter the Great, the Duke of Marlborough, Balzac, the Emperor Napoleon, the Duke of Wellington, Lord Byron, Schiller, Handel, Mendelssohn, Dostoevsky, and Mozart.1253 Among Shakespearean characters, Henry IV and Julius Caesar were depicted as suffering generalized,
and Othello and Macbeth, complex focal (partial) seizures. At least 11 genes have been shown to be causative, almost all coding for ion channel subunits.
Classification of Epilepsies and Epileptic Syndromes A distinction is drawn between the various types of seizure and the syndromes of which such seizures are a manifestation. The former may be seen as colors on the palette of an artist, and the latter as a painting; the different epileptic syndromes are composed of various kinds of seizure.1713 Those printed in bold face in Charts E–2 and E–3 are defined or described in the place appropriate to their alphabetization. See also the dictionary of Gastaut2305 and the discussion of epileptic syndromes by Delgado-Escueta.1556 Generalized epileptic disorders are characterized by seizures in which there are symptoms suggesting bilateral cerebral involvement, reflected clinically and in the bilateral abnormalities of the EEG at the onset of the seizure. They reflect dysfunction of the whole brain or of major brain systems. In the focal epilepsies (formerly and strangely known as partial epilepsies but now more appropriately named), the clinical and electrographic features indicate that the seizure originates in one or more discrete brain regions. An amended version of the 2006 revision of the International League Against Epilepsy’s (ILAE) classification of epileptic seizure types, with added data from Panayiotopoulos, Epileptic Syndromes and Their Treatment (2007),4882 is given in Chart E–2. It differs from the older classification designed for genetic studies1557 and from the epilepsy syndromes and related conditions which are presented in Chart E–3. Chart E–3 lists epilepsy syndromes and related conditions, organized following the scheme of Panayiotopoulos, Epileptic Syndromes and Their Treatment (2007),4882 reproduced by kind permission and blending material from the revised (2006) ILAE classification.1861 Web sites relevant to epilepsy include the following: American Epilepsy Society A professional organization. http://www.aesnet.org British Epilepsy Association http:// www.epilepsy.org.uk/ Epilepsy Foundation of America http:// www.epilepsyfoundation.org National Society of Epilepsy http:// www.epilepsynse.org.uk/
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Chart E–2. ILAE Classification of Epileptic Seizure Types A. Self-limited seizure types 1. Generalized seizures Tonic-clonic seizures (includes variations beginning with a clonic or myoclonic phase) Clonic seizures (with or without tonic features) Absence seizures Typical, Atypical, and Myoclonic Tonic seizures Spasms Myoclonic seizures Massive bilateral myoclonus Eyelid myoclonia (with or without absences) Myoclonic atonic seizures Negative myoclonus Atonic seizures Reflex seizures in generalized epilepsy syndromes Seizures of the posterior neocortex Neocortical temporal lobe seizures 2. Focal seizures Focal sensory seizures With elementary sensory symptoms (e.g., occipital and parietal lobe seizures) With experiential sensory symptoms (e.g., temporo-parieto-occipital junction seizures) Focal motor seizures With elementary clonic motor signs With asymmetrical tonic motor seizures (e.g., supplementary motor seizures) With typical (temporal lobe) automatisms (e.g., mesial temporal lobe seizures) With hyperkinetic automatisms With focal negative myoclonus With inhibitory motor seizures Gelastic seizures Hemiclonic seizures Secondarily generalized seizures Reflex seizures in focal epilepsy syndromes B. Continuous seizure types 1 Generalized status epilepticus Generalized tonic-clonic status epilepticus Absence status (typical, atypical, and myoclonic) Clonic, tonic, and tonic-clonic status epilepticus Myoclonic status epilepticus Subtle status epilepticus 2. Focal status Epilepsia partialis continua (of Kojevnikov) as with Rasmussen syndrome, focal lesions, or some inborn errors of metabolism) Supplementary motor area status epilepticus Aura continua Dyscognitive focal (limbic) status epilepticus (psychomotor status); medial temporal or neocortical forms Hemiconvulsive status with hemiparesis Abstracted from the Web site: http://www.ilae-epilepsy.org/Visitors/Centre/ctf/seizure_types.cfm/.
epilepsy and febrile seizuresplus A benign, dominantly inherited syndrome of febrile convulsions and various other (usually generalized tonic-clonic) seizure types, occurring in children and in the absence of fever. Absences, myoclonic, or atonic seizures can also occur. Various chromosomal linkages have been
determined; the condition is genetically heterogeneous.3783
Epilepsy Canada A national,
nonprofit organization dedicated to improving the quality of life of people epilepsy and mental retardation with epilepsy and their families. Address:1470 Peel St., #745 Montreal, limited to females A dominantly inherited seizure disorder with onset in early Quebec H3A 1T1, Canada. Tel: 514-8457855. E-mail:
[email protected]. childhood, in which half of the affected Web site: http://www.epilepsy.ca/. females are also mentally retarded.3255
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Chart E–3. Classification of Epilepsy Syndromes and Related Conditions Neonatal epileptic seizures and syndromes The main types of neonatal seizures are subtle; tonic; clonic; and myoclonic seizures and nonparoxysmal repetitive behaviors. The four syndromes recognized are Benign familial neonatal seizures Benign neonatal seizures (nonfamilial) Early myoclonic encephalopathy Ohtahara syndrome Idiopathic epileptic seizures and syndromes in infancy Benign familial and nonfamilial infantile seizures (Watanabe–Vigevano syndrome) Benign myoclonic epilepsy in infancy Febrile seizuresGeneralized epilepsies with febrile seizures plus (GEFSþ) Epileptic encephalopathies in infancy and childhood Dravet syndrome (severe myoclonic epilepsy in infancy) Early myoclonic encephalopathy (see neonatal syndromes) Epilepsy with continuous spikes and waves during slow-wave sleep Hypothalamic (gelastic) epilepsy Landau–Kleffner syndrome Lennox–Gastaut syndrome Myoclonic status in nonprogressive encephalopathies Ohtahara syndrome (see neonatal syndromes) West syndrome Severe neocortical epileptic syndromes in infancy and childhood Hemiconvulsion-hemiplegia syndrome Kozhevnikov–Rasmussen syndrome Migrating partial epilepsy of early childhood Partial continuous epilepsy (epilepsia partialis continua of Kozhevnikov) is a lengthy motor seizure-type or motor status epilepticus, but not an epileptic syndrome. Benign childhood focal seizures Benign childhood epilepsy with centrotemporal spikes (Rolandic seizures) Gastaut-type idiopathic childhood occipital epilepsy Panayiotopoulos syndrome Idiopathic-generalized epilepsies (IGE)(ILAE, 2006) Childhood absence epilepsy Epilepsy with myoclonic absences Epilepsy with myoclonic astatic seizures (Doose syndrome) IG Epilepsy with GTCS only Juvenile absence epilepsy (Janz) Juvenile myoclonic epilepsy Myoclonic epilepsy in infancy (see syndromes in infancy) Other nonrecognized syndromes of IGEs include IGE with phantom absences and perioral myoclonia with absences Familial (autosomal dominant) focal epilepsies Autosomal dominant nocturnal frontal lobe epilepsy Benign familial infantile seizures (See idiopathic epileptic seizures and syndromes in infancy) Benign familial neonatal seizures (See epileptic syndromes in neonates) Familial autosomal dominant lateral temporal lobe epilepsy Familial focal epilepsy with variable foci Familial mesial temporal lobe epilepsy Symptomatic and probably symptomatic focal epilepsies Common frontal lobe seizures depending on localization Frontal lobe epilepsies Occipital lobe epilepsies
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epilepsy with myoclonic-astatic seizures
Parietal lobe epilepsies Temporal lobe epilepsy (TLE); mesial temporal lobe epilepsy with hippocampal sclerosis; (hippocampal epilepsy); lateral temporal lobe epilepsy Reflex seizures and related epileptic syndromes Idiopathic reading epilepsy Photosensitive epilepsy—the most common form of reflex epilepsy, not an epilepsy syndrome Idiopathic photosensitive occipital lobe epilepsy Jeavons syndrome (eyelid myoclonia with absences) Self-induced seizures Television-induced epileptic seizures Video game–induced seizures Startle epilepsy Reproduced by kind permission from Panayiotopoulos, C; Epileptic Syndromes and Their Treatment (2007),4882 with blending of material from the revised (2006) ILAE classification.1861
Epilepsy Foundation of America generalized seizures. Parietal spikes or spike- children aged between 1 and 12 years with male preponderance. Impairment of consciousness may be mild or severe. On the EEG, these clinical features are always accompanied by bilateral, synchronous, and symmetrical discharge of rhythmical spikewaves at 3 Hz, as in childhood absence epilepsy with generalized tonic- attacks. Seizures occur many times a day.4757, 4882 clonic seizures on awakening epilepsy, heterochromia iridis Awareness of the jerks may be maintained. A syndrome with its onset occurring mostly and deafness A rare variant of Usher Associated seizures such as GTCS or atonic in the second decade of life. The seizures syndrome in which the iris changes are occur exclusively or predominantly (>90% fits are not uncommon. The prognosis is less added features. favorable than in pyknolepsy owing to of the time) shortly after awakening, resistance to therapy of the seizures, mental regardless of the time of day, or in a second epilepsy in remission with deterioration, and possible evolution to other seizure peak in the evening period of treatment A prevalent case of epilepsy types of epilepsy such as juvenile myoclonic relaxation. If other seizures occur, they are with no seizures for 5 or more years and epilepsy or Lennox–Gastaut syndrome. The mostly absence or myoclonic, as in juvenile receiving antiepileptic drugs at the time of most recent ILAE publication, however, 1265 myoclonic epilepsy. Seizures may be ascertainment. precipitated by sleep deprivation and other suggests that this may be a syndrome of unknown provenance. (See Dreifuss FE, et al. external factors. Genetic predisposition is epilepsy in remission without Commission for classification and relatively frequent. The EEG shows one of treatment A prevalent case of epilepsy the patterns of idiopathic generalized terminology, ILAE. Proposal for revised with no seizures for 5 or more years and not epilepsy. There is a significant correlation classifications of epilepsies and epileptic receiving antiepileptic drugs at the time of with photosensitivity. (After Dreifuss FE, et syndromes. Epilepsia 1989;30:389–99.) ascertainment.1265 al. Commission for classification and terminology, ILAE. Proposal for revised epilepsy with myoclonic-astatic Epilepsy Research (incorporating the classifications of epilepsies and epileptic seizures (Doose syndrome) An Journal of Epilepsy) A neurological syndromes. Epilepsia 1989;30:389–99 and uncommon epileptic syndrome in which subspecialty journal published by Elsevier reproduced by kind permission of Wileymyoclonic-astatic seizures manifest as Science. Web site: http://www.elsevier.com/ Blackwell Publications.) symmetrical myoclonic jerks immediately locate/epilepsyres. followed by loss of muscle tone (atonic epilepsy with infantile baldness component) and causing lightning-like falls, epilepsy seizure scales See Chalfont and mental retardation head nodding, or bending of the knees, with Scale; Hague Scale; and VA Scale. A syndrome characterized by such features onset between the ages of 7 months and 6 from birth. Both major motor and complex years and with twice as many boys affected as epilepsy with continuous spike- partial seizures are described in the few girls. There is frequently a hereditary waves during slow-wave sleep kinships reported.4527 predisposition and usually a normal See electrical status epilepticus during sleep. developmental background. The seizures epilepsy with myoclonic comprise myoclonic, astatic, and myoclonicepilepsy with evoked parietal astatic attacks, absences with clonic and absences A rare syndrome clinically tonic components, and tonic–clonic seizures. spikes An uncommon seizure disorder characterized by absences accompanied by Status frequently occurs. Tonic seizures characterized by the presence of focal attacks severe bilateral, rhythmical clonic jerks, often associated with a tonic contraction, in develop late in unfavorable cases. without loss of consciousness, or with A charitable organization in this field. Address: 4351 Garden City Dr., Suite 500, Landover, MD 20785-7223. Tel: 301-4593700; 800-332-1000. E-mail:
[email protected]. Web site: http:// www.epilepsyfoundation.org/.
wave discharges are recorded on the EEG. In some cases, a similar EEG occurs but only when the contralateral foot is tapped. Thus, it appears that the condition may or may not find any clinical expression.1568
epilepsy-telangiectasia syndrome
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aphasia, or speech arrest, with EEG activation during nonrapid eye movement sleep and the disappearance of the worst of the abnormalities during periods of rapid eye movement sleep.4931 2. A group of devastating seizure syndromes which begin in infancy and early childhood, usually resulting in intractable epilepsy. Most are associated with slowing of cognitive function and the epilepsy-telangiectasia evolution of severe behavioral disorders. The syndrome A recessively inherited EEG demonstrates hypsarrhythmia in dysmorphic syndrome characterized by conjunctival telangiectasias, brachydactyly, infancy and slow generalized spike-wave seizures, and mental retardation. See ataxia- discharges and burst-suppression patterns later. Multiple seizure types and resistance to telangiectasia-like syndrome. conventional therapies are characteristic. The conditions include atypical benign epileptic amnesia See transient partial epilepsy, early infantile epileptic epileptic amnesia. encephalopathy, early myoclonic encephalopathy (neonatal), electrical status epileptic aphasic syndrome epilepticus in slow-wave sleep, Dravet (Landau–Kleffner syndrome) A syndrome of syndrome, Landau–Kleffner syndrome, acquired temporary aphasia lasting days to Lennox–Gastaut syndrome, migrating months, in the absence of any detectable partial epilepsy in infancy, myoclonic astatic focal cerebral disease but associated with epilepsy, Ohtahara syndrome (neonatal), heterogeneous clinical seizures and with severe infantile multifocal epilepsy, severe generalized spike-and-wave discharges on myoclonic epilepsy of infancy, and West the EEG, and with the clinical and syndrome. Hypothalamic (gelastic) epilepsy electrographic abnormalities abating also manifests with progressive severe seizures 2462 together. Criteria for the diagnosis of and cognitive and behavioral decline. ictal aphasia have been defined as follows:5399 The EEG, initially often normal except for 4–7 Hz rhythms, may have irregular fast spike-wave or polyspike-waves. In the event of nonconvulsive status lasting hours or more, there are continuous or discontinuous and repetitive 2–3 Hz spikes and waves. The course and outcome are variable.4882, 1861
The patient must be alert and speaking during the ictus The speech produced must be dysphasic (dysnomic, nonfluent, and paraphasic) Simultaneous EEG demonstrates seizure activity which comes and goes with the seizure events.
epileptic encephalopathy with continuous spike-and-wave during sleep An epileptic syndrome which may be identical with Landau–Kleffner Syndrome.1861
epileptic endocrine syndrome epileptic cephalea Headache occurring as the only manifestation of a seizure disorder.2708 epileptic discharge 1. A diffuse or localized but temporary paroxysmal change in EEG activity, characterized by high-amplitude rhythmic discharges due to excessive synchronization of potentials in an aggregation of neurons and less frequently by highfrequency, low-amplitude discharges. 2. Occasional, sudden, rapid, local and excessive discharges of gray matter (Hughlings Jackson).
epileptic drop attacks See atonic seizures.
epileptic encephalopathies 1. Syndromes comprising daytime absencetype seizures and nocturnal orofacial seizures during slow-wave sleep, mental impairment,
(Bondin–Barbizet syndrome) Mental retardation and precocious puberty with accelerated growth in epileptic children, due in most cases to a hypothalamic or diencephalic lesion.733
epileptic forced thinking See forced thinking.
epileptic mydriasis Temporary unilateral fixed dilatation of a pupil after an epileptic seizure.4886
epileptic myoclonus 1. Those forms of myoclonus which are related to some epileptic syndrome. These include cortical reflex myoclonus; reticular reflex myoclonus; and primary generalized epileptic myoclonus. In all forms, the EMG burst length is less than 50 ms, the muscles are synchronously activated by the same discharge, and a
correlated discharge is recordable on the EEG.2695 See also nonepileptic myoclonus. 2. (petit mal triad) The concurrence of absence seizures or GTCS, akinetic attacks, and myoclonus. See myoclonus.
epileptic negative myoclonus A phenomenon related to epileptiform discharges located in contralateral central regions, occurring in a variety of epileptic syndromes and presenting as brief postural lapses of muscle tone in a body segment time-locked to a train of spike discharges in the contralateral hemisphere and accompanied by periods of EMG silence lasting up to 400 ms. Giant somatosensoryevoked potentials (SSEPs) may be recorded in such patients.4684 See also asterixis.
epileptic nystagmus (ictal nystagmus) Pendular, torsional, retraction, or central (jerk) nystagmus occurring in association with paroxysmal discharges from a contralateral parietal focus, as shown on the EEG.2243 The phenomenology of the eye movements and the nature of the discharging lesion vary, so much so that no further definition is offered. The subject was reviewed by Leigh and Zee.3762 epileptic psychosis Functional alteration in mental status in patients with seizure disorders, usually of the partial variety. These can be classified as follows: Chart E–4. Classification of Epileptic Psychoses 1. Brief psychoses in the context of altered consciousness related to an ictus. A. Nonconvulsive status Absence type Psychomotor type B. Postictal ‘‘twilight states’’ (brief, mild confusion) C. Postictal hypomania D. Fugue states E. Alternating psychoses with forced normalization of the EEG F. Transient ictal depression, dysphoria, or hypomania. 2. Chronic psychoses without immediate relationship to seizure activity and with normal conscious level: A. Schizophrenia-like psychoses of epilepsy5890 B. Paranoid states C. Bipolar affective disorder
episodic ataxias
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epileptic recruiting rhythm (fast
Chart E–5. Classification of Epileptic Seizures.
complexes, distinguished from background activity and resembling those waves or complexes recorded in a proportion of human 1. Partial seizures (seizures beginning locally) subjects suffering from epileptic disorders and in animals rendered epileptic experimentally. A. Simple partial seizures (consciousness not impaired) Epileptiform patterns include spikes and sharp waves, alone or accompanied by epileptic seizure 1. A paroxysmal 1. With motor symptoms aftercoming slow waves, occurring singly or clinical event as a manifestation of epileptic 2. With somatosensory or special in bursts lasting at most a few seconds. sensory symptoms (excessive and/or hypersynchronous), usually 3. With autonomic symptoms The term refers to interictal paroxysmal self-limited activity of neurons in the 4. With psychic symptoms activity and not to seizure patterns. The brain reflecting the occurrence of an probability of association with clinical epileptic discharge. Such events are the B. Complex partial seizures (with epileptic disorders is variable. See also impairment of consciousness) building blocks of the epileptic seizure pattern. (Adapted from the 1974 syndromes. The International League 1. Beginning as simple partial seizures report of the Committee on Terminology, Against Epilepsy classification is given and progressing to impairment of IFCN. In: Chatrian GE, Bergamini L, in Chart E–5. 2. A clinical manifestation consciousness Dondey M, et al. A glossary of terms most presumed to result from an abnormal and a. With no other features commonly used by clinical excessive discharge of a set of neurons in b. With features as in A. 1–4 electroencephalographers. EEG Clin the cortex of the brain. The clinical c. With automatisms Neurophysiol 1974;37:538–48. Reproduced manifestation consists of sudden and 2. With impairment of consciousness at by kind permission of Elsevier Science and transitory abnormal phenomena that may onset: the IFCN.) include alterations of consciousness, motor a. With no other features sensory, autonomic, or psychic events, b. With features as in A. 1–4 epileptogenic (epileptogenous) perceived by the patient or an observer.1265 c. With automatisms Capable of provoking epileptic seizures. Their 1990 classification is still appropriate C. Partial seizures, secondarily generalized (though for ‘partial’, substitute ‘focal’) and is reproduced in Chart E–5. 2. Generalized Seizures (bilaterally symmetrical epileptogenous See epileptogenic. rhythmic waves) Bursts of sinusoidal waves at 8–30 Hz, widespread over the scalp, resembling beta activity and presaging the occurrence of tonic seizures or absences.690
and without local onset)
epileptic spasm (infantile spasm) Sudden flexion, extension, or mixed extension–flexion movements predominantly of the proximal and truncal muscles, which are usually more sustained than in myoclonus but not as sustained as in a tonic seizure; that is, about 1 s. Limited forms may occur, involving, for example, grimacing or head nodding. They tend to occur in clusters and are associated with the EEG appearance known as hypsarrhythmia and occur in infants or children with West syndrome and in the Lennox–Gastaut syndrome, tuberous sclerosis, Aicardi syndrome, lissencephalypachygyria, and focal cortical dysplasia.
epileptic (epilepsy) syndrome An epileptic disorder characterized by an individual cluster of signs and symptoms customarily occurring together; these include such items as type of seizure, etiology, anatomy, precipitating factor, age of onset, severity, chronicity, diurnal and circadian cycling, and sometimes prognosis. A single syndrome may have different etiologies and prognoses.72 A classification is given under epilepsy.
epileptic twilight state See status epilepticus.
A. 1. Absence seizures 2. Atypical absence seizures B. C. D. E. F.
Myoclonic seizures Clonic seizures Tonic seizures Tonic-clonic seizures Atonic seizures
3. Unclassified epileptic seizures (inadequate or incomplete data)1713 From Driefuss FE. The epilepsies: clinical implications of the international classification. Epilepsia 1990;31: S3–S10. Reproduced by kind permission of Dr. F. Driefuss and of Lippincott Williams and Wilkins.)
epileptogenous encephalopathy Intellectual deterioration and transient neurological signs occurring in children, with no past history or family history of epilepsy, after a sudden and dramatic illness marked by repeated convulsions and without current evidence of encephalitis.833
epileptoid Resembling epilepsy. epiloia The term suggested by E.B. Sherlock in 1901 for tuberous sclerosis.
epimysium The connective tissue investing muscle fascicles.
epileptiform Resembling epilepsy— or, by extension, things that are often associated with epilepsy, such as certain EEG rhythms. The word means neither epileptogenic nor epileptic, in any context. In using the term ‘‘epileptiform discharges,’’ electroencephalographers wish to convey the presence of spikes, sharp-waves or spike-wave complexes which, by their morphology, frequency, or distribution, suggests to them that such waveforms may be associated with a clinical seizure disorder. epileptiform pattern An EEG pattern that applies to distinctive waves or
epineurium Areolar connective tissue which loosely holds together bundles of funiculi to form a nerve trunk. epipaxic postural tremor See cerebellar tremors.
epiphysis cerebri The pineal gland. episodic ataxias Dominantly inherited channelopathies with early onset in which the recurrent bouts of imbalance and ataxia are the most obvious clinical feature. Most patients recover fully between attacks, but some may develop progressive ataxia
episodic autonomic dysreflexia with cerebellar atrophy. The clinical features vary with each syndrome, and there is clear genetic heterogeneity. Online Mendelian Inheritance of Man (OMIM) records six clinical phenotypes, each with unique genetic features.3388 Type 1 (EA1) is a potassium channelopathy, characterized by attacks of cerebellar ataxia triggered by startle or exercise lasting minutes, and continuous interictal myokymia, as a result of mutations of the voltage-gated potassium channel gene KCNA1 on chromosome 12p.13.1924 Type 2 (EA2) is a calcium channelopathy mapped to chromosome 19p13, at the same locus as familial hemiplegic migraine and cerebellar ataxia (SCA6). It is characterized by attacks of cerebellar ataxia lasting hours to days, provoked by stress rather than by startle and by response to acetazolamide. Dysarthria, nystagmus, vertigo, diplopia, and headache also occur in the attacks. Interictal nystagmus is another feature.1578 In this condition mutations in CACN1A are found. A variant form is episodic ataxia, hemiplegia, and seizures, a syndrome with these features resulting from a heterozygous mutation in EAAT1, a glutamate transporter. See also cerebellar ataxias.
episodic autonomic dysreflexia (autonomic storm) The occurrence in patients with severe thoracic cord lesions of excessive sympathetic discharge— manifested by flushing and sweating rostral to the level of the cord lesion, headache, hypertension, and reflex bradycardia—in response to visceral stimuli such as bladder distension.
episodic cluster headache See cluster headache.
episodic hyperhidrosis An uncommon manifestation of diencephalic dysfunction, usually associated with both hypothermia and reduction in conscious level. Causative pathologies have included primary and infiltrating tumors of the hypothalamus, epilepsy, and agenesis of the corpus callosum.1455
episodic memory The mechanism whereby specific events, places, dates, faces, and facts that were personally experienced are remembered. Its substrates are the hippocampus and limbic system. As it contains information about the ordering of
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events in time, it equates with a good memory for personal history. This memory store is somewhat more fragile than semantic memory, perhaps because the data within it constantly change,3470 and it is impaired early in, for example, Alzheimer disease. Cf. semantic memory, the contextindependent remembering of wordmeanings, objects, people, and places. See also working memory and procedural memory.
episodic nocturnal wanderings Nocturnal behavioral disturbances characterized by abrupt arousal, followed by violent, stereotyped complex automatisms, including walking, screaming, yelling, and unintelligible speech; kicking, leaping, and head banging within the context of expressed fear; unresponsiveness to the environment; and with a tendency to semidirected violence. They occur mainly in adolescents and young adults, many of whom have interictal seizure discharges. The attacks usually last for minutes and occur in clusters during nonrapid eye movement sleep stage 2. They are unaccompanied by pathological behavior by day.4962 They resemble night terrors or sleepwalking, except that they are suppressed by anticonvulsants.4139, 5989, 4451
episodic paroxysmal hemicrania A syndrome in which the bouts of otherwise typical chronic paroxysmal hemicrania last for weeks without progressing to a chronic phase. Responsiveness to indomethacin is nearcomplete.3584
episodic tension-type headache (tension, muscle contraction, psychomyogenic, stress, ordinary, headache, idiopathic or psychogenic headache) Recurrent episodes of headache lasting minutes to days. The pain is typically pressing or tightening in quality, of mild or moderate intensity, bilateral in location, and does not worsen with routine physical activity. Nausea is absent, but photophobia or phonophobia may be present. See tension (-type) headache. See also chronic daily headache, new daily persistent headache, and medication-induced headache.5832
episodic unilateral mydriasis A syndrome characterized by the spontaneous occurrence of unilateral fixed pupillary dilatation associated with homolateral headache, lasting from minutes to weeks in young people, without ptosis or diplopia, with eventual remission and without residua. A similar syndrome occurs in Horner syndrome, with springing pupils and in cyclic oculomotor paralysis.2699
episodic vertigo A feature of various conditions including benign paroxysmal positional and benign recurrent vertigo, vertebrobasilar insufficiency, migraine, and episodic ataxia type 2, as well as the following. episodic vertigo and hearing loss A dominantly inherited syndrome of fluctuating nerve deafness with episodic tinnitus and vertigo. See Me´nie`re disease.
epistasis (genetic interaction) The
interaction between genes, occurring when the action of one gene is modified by one or several other ‘‘modifier genes.’’ The gene paroxysmal hemicrania, the searing whose phenotype is expressed is said to be unilateral head pains lasting 10–20 min and epistatic, while the phenotype altered or occurring over a period of weeks without a suppressed is said to be hypostatic. The term is tendency to become chronic.3584 widely used in population genetics and refers especially to the statistical properties of the phenomenon. episodic spontaneous
episodic paroxysmal hemicrania Repetitive daily attacks of
hypothermia with hyperhidrosis A rare condition seen at Epley maneuver A bedside method any age and characterized by unprovoked hypothermia, with diaphoresis lasting minutes to months and eventual remission. It is associated with the presence of congenital CNS anomalies or hypothalamic disorders. See corpus callosum agenesis with recurrent hypothermia.
for repositioning the otolith particles in the semicircular canals as treatment for patients with posterior semicircular canal benign paroxysmal positional vertigo.1893 The actual method is superbly demonstrated at http://www.emedicine.com/emerg/ topic57.htm.
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epoch A period of time in an EEG record given the lesion suggested by the original or other physiological recording session, its finding. duration determined arbitrarily. Eramo syndrome A dysmorphic syndrome characterized by short stature, dry EPP See end-plate potential. skin, hyperkeratosis or ichthyosis, alopecia, absent eyebrows and sparse eyelashes, corneal EPSP See excitatory postsynaptic ulceration and photophobia, mental and potential. developmental delay, seizures, and nystagmus.381 Epworth Sleepiness Scale A subjective tool for the evaluation of sleepiness, though it was the Maintenance of Wakefulness Test that was adopted by the U.S. Federal Aviation Administration as the standard for measuring treatment efficacy when testing pilots with sleep apnea.
EQ-5D A generic quality-of-life measure assessing self-care, mobility, usual activities, pain/discomfort, and anxiety/depression, and found valuable in the assessment of people with Parkinson disease.5650
equal loudness balance test A localizing test in auditory dysfunction, in which pure tones at various frequencies are delivered to the two ears alternately, the subject signifying when the sound in the two ears is of equal intensity. With cochlear dysfunction, the loudness in the affected ear approaches, equals, or exceeds that in the normal ear at high-intensity levels; with conductive deafness or retrocochlear lesions, no such recruitment occurs; and, with neural lesions, the sensation of loudness in the deaf ear grows more slowly than that in the normal ear, with increasing intensity of stimulation.2165
equine gait The ‘‘steppage’’ gait of drop
stimulation activates the axons of the upper trunk of the brachial plexus.
Erb reaction of degeneration The persisting sensitivity of muscle to galvanic but not to faradic stimulation following denervation.
Erb sign Hyperexcitability of the nerves in tetany.
Erb, Wilhelm Heinrich
Erb spastic paraparesis See
(1840–1921) The leading German neurologist of his time, Erb graduated from Munich and trained with Friedreich at Heidelberg, succeeding him there as professor after some years spent in Heidelberg and in Leipzig. He is remembered best for his initial classification of the muscular dystrophies which he also distinguished from spinal muscular atrophies; and for his work on the ‘‘tendon’’ reflexes. It was he who first employed a hammer to elicit these reflexes, the hammer formerly having been used to percuss the chests of humans and the heads of cows (in the latter case to detect the presence of echinococcal cysts).5603 Erb was one of the first neurologists to stress the value of the neurological examination; he and Westphal showed at the same time that the knee jerk was absent in tabes dorsalis. He succeeded in getting adequate training in neurology into the undergraduate medical curriculum in Germany, an advance which has sadly still proved hard to achieve, at least in North America. The syndromes etc. for which he is remembered (from over 270 of his publications) are listed in the following entries.
Erb–Charcot syndrome.
foot due to weakness of the ankle dorsiflexor Erb dystrophy See limb-girdle and evertor muscles. muscular dystrophy.
equipotential A term which applies to Erb myotonic reaction The regions of the head or to electrodes which are prolonged contraction of muscle resulting at the same potential at a given instant in from faradic stimulation applied at the time. motor point.
Erb–Charcot syndrome (spastic spinal paralysis, Erb spastic paraparesis, syphilitic myelitis) Syphilitic myelopathy with the usual pyramidal signs, sphincter disturbances, muscle atrophy at the level of the cord lesions, and long-tract sensory changes, due to syphilitic endarteritis of the thoracic cord.1897 Syphilitic myelopathy can similarly be caused by pachymeningitis. The name given here is that by which the disease is better known, but Erb gave primacy to Charcot in its description.1898
Erb–Duchenne syndrome See upper brachial plexus palsy.
Erb–Goldflam syndrome See myasthenia gravis.1899
Erb–Landouzy syndrome See limbgirdle muscular dystrophy.
Erb–Westphal sign Absence of the knee jerk in tabes dorsalis.
Erdheim, Jakob (1874–1937) Viennese physician who described parathyroid adenoma and medial necrosis of the aorta as well as the tumor once named for him.
equipotential line An imaginary line Erb palsy See upper brachial plexus
Erdheim syndrome Cervical spondylosis with hyperplasia of the intervertebral disks associated with acromegaly and leading to pain and restriction of cervical mobility.1904
joining a series of points that are at the same palsy. potential at a given instant in time.
Erdheim–Chester disease A rare
Erb phenomenon The increased
form of systemic histiocytosis with excitability of the peripheral motor nerves in widespread tissue infiltration, especially manifesting as metaphyseal sclerosis, and tetany. the presence of neuropathology but which with retroperitoneal, cardiac, and pulmonary either are so slight as to generate uncertainty involvement. It is also capable of causing or are inconsistently present. In other Erb’s point That point behind the neurogenic diabetes insipidus, orbital lesions situations, the sign is not confirmed by the insertion of the sternomastoid muscle into with exophthalmia, and pyramidal and presence of other signs ordinarily present, the clavicle where percutaneous nerve
equivocal signs Signs which suggest
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Ernest syndrome A syndrome of facial pain considered to be due to inflammation of the tendon of the temporalis muscle, characterized clinically by pain felt in Erdheim tumor Craniopharyngioma, and about the ear, temporomandibular joint, anterior temple, mandible and adjacent teeth, described by Erdheim in 1904. throat, and/or eye. The pain is exacerbated by digital compression of the insertion of the ergotamine tartrate A serotonin receptor agonist and vasoconstrictor isolated stylomandibular ligament and relieved by local anesthetic injection at that site. by Stoll in 1918 and first used for the treatment of migraine by Maier in 1926. erratic seizures See fragmentary seizures. ergotamine withdrawal headache A form of withdrawal headache in subjects with a prior headache erythema chronicum miograns Classically, an expanding red or bull’s eye syndrome, its characteristics resembling both those of migraine and of tension-type annular ‘‘target’’ lesion typically associated headaches and occurring after chronic daily with B. burgdorferi tick bites and the most common manifestation of early Lyme ergotamine intake (oral 2 mg, rectal disease. Variations such as uniform 1 mg) within 48 h after withdrawal. coloration, lesions with necrotic or vesicular centers, and lesions with shapes that are not ergotism (from Fr, a cock spur, which resembles the spike on the fungus Claviceps circular or oval also occur. The lesion was purpurea which may infest spoiled rye grain) first described by Arnold Pick. Poisoning by the toxin of the ergot fungus, erythism Redness of the skin, as part of the disease known in the Middle Ages as the syndrome of poisoning with inorganic Holy, St. Anthony’s, or St. Martial’s fire and mercury. The term became generalized to often then appearing in epidemics. Neurovascular (gangrenous) and spasmodic describe the associated emotional or convulsive forms are recognized, the latter irritability. In retrospect, it is surprising that the presenting with limb pain, paresthesias, intermittent strong muscular contractions, similarity of the signs of pink disease to those of erethism was not recognized earlier. seizures, psychoses, and signs resembling those of peripheral neuropathy or tabes.6819 cerebellar signs, the latter mainly due to extra-axial infiltration with dural granulomas.6878
erythrokeratodermia with Erichsen, Sir John Eric (1818–1896) ataxia A rare, recessively inherited English surgeon (born in Copenhagen) who described railway spine (a condition which does not exist) in 1866. However, his clinical descriptions were extremely accurate for cervical acceleration injury and it would appear that the rampant litigation in this context today was equally well known in the nineteenth century.
Erisistratos (d. ca. 250 BC) Alexandrian anatomist, physician, and surgeon who was possibly the grandson of Aristotle. He named the cerebrum and the cerebellum and described the convolutions of the brain. Erlanger, Joseph (1874–1965) American neurophysiologist who established the nature of the nerve action potential using a cathode ray oscilloscope and took the 1944 Nobel Prize (with H. Gasser, a former student of his) for work on the differentiation of nerve fiber functions.
syndrome of congenital ichthyosiform erythroderma, clearing by the age of 25 years, with adult-onset gait ataxia, pyramidal signs, and myalgia.2394
erythromelalgia (primary erythermalgia, familial erythromelalgia, Weir Mitchell disease) A dominantly inherited chronic condition characterized by episodic burning and erythema of the involved extremity. When the extremity is lowered, or heat is applied, the pain is intensified, while the application of cold or elevation of the extremity decreases the pain. Sympathetic vasoconstrictor responses are diminished, perhaps as a result of denervation supersensitivity causing increased vasoconstrictor responses to circulating catecholamines, leading to a reduction in skin blood flow.2883 A sodium channel mutation. in the gene encoding the Nav1.7 sodium channel, is the underlying cause.6676
In primary erythromelalgia there is no accompanying disease process. Secondary erythromelalgia is associated with myeloproliferative syndrome-related thrombocythemia. Silas Weir Mitchell first suggested the term in 1878. When affecting the face or head, the term used is cluster headache. See Weir Mitchell syndrome and thrombocytosis.4708
erythropia The abnormal perception of redness in objects seen; an occasional complication of lens extraction. erythroprosopalgia A redundant term for cluster headache.
Escherich sign Periorbital and perioral muscle contraction induced by percussion of the lips or tongue; seen in tetany.5333 esodic Afferent. esophoria (Latent convergent strabismus) A tendency for the visual axes to deviate medially; a predisposition to ocular convergence. See also esotropia and exophoria. esotropia (convergent strabismus) A visible inward turning of the visual axis of an eye. See also cyclic esotropia and thalamic esotropia.
esphlasis (from Gr, a pressure inwards) A comminuted fracture of the skull. Espildora–Luque syndrome Unilateral blindness with contralateral hemiplegia due to an embolism in the ophthalmic artery which, it is supposed, induces reflex spasm in the middle cerebral artery on the same side.1915 See amaurosis–hemiplegia syndrome.
Esquirol, Jean-EtienneDominique (1772–1840) French physician, psychiatrist at the Salpeˆtrie`re, who first brought rational and humanistic ideas to the management of patients with mental disorders1917 and who introduced the terms grand mal and petit mal to neurology in 1838.
essential anisocoria Benign pupillary inequality of unknown cause, in which the difference in sizes of the pupils is maintained under different conditions of illumination; responses to light and
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association with this kind of tremor. As first recorded by Robert Whytt, alcohol consumption may relieve the tremor of the essential benign myoclonus See hands. ‘‘A dram of brandy, by stimulating the nerves of the stomach, will almost instantly myoclonus.1469 lessen a tremor of the hands . . .’’ (Whytt R. The Works of Robert Whytt. Published by his essential blepharospasm A common dystonia in adults, presenting as Son, Edinburgh, in 1768, p. 681.) The condition was first described in full by blepharospasm with no known cause, often without any other dystonic manifestations. Lazar Minor. Hubble et al.3020 have published a complete review. Criteria for the diagnosis of essential tremor have been suggested: essential chorea A rare disorder of For definite essential tremor, the core unknown cause manifesting as nonprogressive criteria339, 341, 1834 are the presence of chorea with onset in adult life, without associated neurological deficit, positive family bilateral tremor of the hands and forearms history, or abnormality on cerebral imaging.1949 (but not rest tremor); the absence of other See also hereditary nonprogressive chorea signs apart from the cogwheel phenomenon; and head tremor in the absence of signs of and senile chorea. dystonia. The tremor is postural or kinetic in type. Secondary criteria supporting (but not essential headache See episodic required for) the diagnosis are long duration tension-type headache. (>3 years); a positive family history; and a beneficial response to alcohol. essential myoclonus A disorder Exclusion criteria for this tremor, characterized solely by the occurrence of suggested by Dr. Joseph Jankowicz (personal myoclonus. Both hereditary communication, 1994; reproduced by kind (paramyoclonus multiplex) and acquired permission), are the presence of: neurological forms have been described, but, even in the latter, no preceding causal event can signs; the causes of accentuated physiological tremor; current or recent exposure to be determined.832 tremorgenic drugs; direct or indirect trauma The acquired, sporadic condition is heterogeneous and may represent a variant of to the CNS or PNS; historical or clinical evidence of a psychogenic origin for the idiopathic epilepsy in which myoclonus tremor; or convincing evidence of sudden occurs in subjects with no other form of onset or of stepwise deterioration. epilepsy and who show no neurological A further form of classification could be deficit. In some cases, malignancies are whether the tremor is familial or presumed associated. See myoclonus, hereditary to be sporadic. essential myoclonus, and ballistic Subgroups of essential tremor were movement overflow myoclonus. differentiated by Marsden et al.4103 essential tremor (benign essential Type 1, benign exaggerated physiological familial tremor, Minor tremor, familial essentialtremor A nonfamilial postural tremor) A dominantly inherited or sporadic tremor at 8–12 Hz seen in the arms and syndrome of postural and kinetic tremor, due to enhancement of the normal stretch worst in the arms with actions such as reflex. See also physiological tremor. writing or lifting a cup but frequently also Type 2, benign pathological essential tremor affecting the head, jaw, and vocal apparatus, A frequently familial postural tremor at but rarely the legs, in the absence of signs of 5–7 Hz seen in the arms and perhaps in the Parkinson disease or of other causes of head and legs also, considered to be due to dysregulation of a central oscillator. tremor. Lewy body pathology may, however, Type 3, severe pathological essential tremor be present. Mapping to sites on A frequently familial postural tremor at chromosomes 2p24, 2p22–25, 6p23, and 5–9 Hz, more marked than the last, seen in 3q13 has been achieved.1576 the arms and perhaps in the head and The tremor is absent at rest. It may affect legs also, and considered to be due to other areas of the body as well as the arms. It dysregulation of a central oscillator. is usually most pronounced distally and is Type 4, symptomatic essential tremor present during both maintenance of posture A frequently familial postural tremor at and performance of an action. In elderly 5–7 Hz, seen in the arms only, in people, a rest component may be seen. Eye association with peripheral neuropathy or with basal ganglion disorders. movement abnormalities are not present in accommodation are present; and eye movements are full. See anisocoria.
Orthostatic and primary writing tremor and tremor of the smile are variants of the same condition,2053 which is itself heterogeneous as judged by electrophysiological study. The International Tremor Foundation is a clearing house for data on the condition. Web site: http://www.essentialtremor.org/.
esthesiometer A small handheld device like a compass with two arms that can be adjusted to separate its curved tips from 1 mm to about 8 cm, thus allowing the measurement of two point discrimination as part of the sensory examination.
esthesioneuroblastoma An invasive, malignant tumor of the nasal cavity derived from the olfactory mucosal receptor cells. Microscopically the tumor resembles a neuroblastoma. It occurs mostly in young adults and invades locally, giving rise to cranial nerve pareses, but may occasionally metastasize locally or may spread intracranially.557, 1838 e´tat crible´ 1. The normal open-weave appearance of the anterior and posterior perforated substance through which small arteries pass into the brain. 2. The abnormal sievelike appearance of the brain in areas of vascular ectasia, usually the centrum semiovale and the basal ganglia, due to dilatation of the perivascular spaces, thickening of the walls of the smaller arteries, and perivascular demyelination. This condition was recognized by Dechambre in the same paper in which he published his observations of lacunes.1528 3. The occurrence of multiple type 3 lacunes in the brain. e´tat lacunaire The occurrence of multiple type 1 lacunes in the brain, often associated clinically with progressive neurological deterioration, marche a` petits pas, pseudobulbar palsy, and incontinence. e´tat marbre´ (Fr, marbled state) (status marmoratus) Scarring of the putamen and other basal ganglia with prominence of myelinated fibers in the gray matter, giving rise to a marbled appearance. It is seen in neonates following hypoxic-ischemic encephalopathy and clinically is usually associated with athetosis. See double athetosis and Vogt syndrome. Ethan syndrome See nystagmusblockage syndrome.
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Chart E–6. TRIG Classification of Essential Tremor A. Definite essential tremor 1. Inclusion criteria i. Tremor: Bilateral postural tremor with or without kinetic tremor, involving hands and forearms, that is visible and persistent (Tremor of other body parts may be present in addition to upper limb tremor. Bilateral tremor may be asymmetric. It is reported by the patient to be persistent, although the amplitude may fluctuate, but it may or may not produce disability.) ii. Duration: longer than 5 years 2. Exclusion criteria i. Other abnormal neurologic signs (with the exception of the presence of tremor and Froment sign, the full neurologic examination should be normal for age) ii. Presence of known causes of enhanced physiologic tremor iii. Concurrent or recent exposure to tremorogenic drugs or the presence of a drug withdrawal state (Many drugs acting on the central nervous system can produce tremor as a side effect. In people, drug-induced tremor is most often in the form of action tremor. Subjects should be drug-free for a period exceeding the known biologic effect of the drug.) iv. Direct or indirect trauma to the nervous system within 3 months preceding the onset of tremor (This includes head injury [direct or indirect] and peripheral injury, if the anatomic distribution is the same as that of the tremor.) v. Historic or clinical evidence of psychogenic origins of tremor (The definition of psychogenic tremor is itself open to debate. Clinical features that may suggest [there] are unphysiological variations [>1 Hz] in tremor frequency, unusual and inconsistent behavioral characteristics, and spontaneous remission. Psychiatric or social factors [multiple somatization, secondary gain, litigation, or compensation pending] may support the diagnosis of psychogenic tremor.) vi. Convincing evidence of sudden onset or evidence of stepwise deterioration B. Probable essential tremor 1. Inclusion criteria i. The same as those for definite essential tremor (Tremor may be confined to body parts other than hands. These may include head and postural tremor of the legs. However, abnormal posture of the head would suggest the presence of dystonic head tremor.) ii. Duration—longer than 3 years 2. Exclusion criteria i. The same as for definite essential tremor ii. Primary orthostatic tremor (isolated, high-frequency [14–18 Hz] bilaterally synchronous tremor of the lower limbs on standing) iii. Isolated voice tremor (because of the clinical difficulty of separating essential tremor of the voice from the speech disturbances of laryngeal dystonia and other dystonias of the vocal apparatus) iv. Isolated position-specific or task-specific tremors, including occupational tremors and primary writing tremor v. Isolated tongue or chin tremor C. Possible essential tremor 1. Inclusions i. Type I a. Subjects who satisfy the criteria of definite or probable essential tremor but exhibit other recognizable neurologic disorders, such as Parkinsonism, dystonia, myoclonus, peripheral neuropathy, or restless leg syndrome b. Subjects who satisfy the criteria of definite or probable essential tremor but exhibit other neurologic signs of uncertain significance not sufficient to make the diagnosis of a recognizable neurologic disorder. Such signs may include mild extrapyramidal features, such as hypomimia, decreased arm swing, or mild bradykinesia ii. Type II Monosymptomatic and isolated tremors of uncertain relation to essential tremor. This includes position- and task-specific tremors, such as occupational tremors, primary writing tremor, primary orthostatic tremor, isolated voice tremor, isolated postural leg tremor, and unilateral postural hand tremor 2. Exclusions The exclusions are the same as items 2–4 under definite essential tremor (After Deuschl G. et al. Mov Disord1998;3:2–23. 1988 John Wiley and Sons. Inc. All rights reserved. Reprinted by kind permission.)
ethiologica (from Gr, forgetfulness þ
ethmocephaly (from Gr, a sieve þ
word) The inability to call to mind the brain) A developmental malformation correct word to express a thought, a feeling, or in which the two orbits are placed a fact. unusually close together. The nose, when
present, is normally sited between them.379 The nasal cavities, nasal bones, ethmoid, and premaxilla are usually missing.4
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ethmoid (Gr, resembling a sieve) A thin, encourages communication on this disease, cavitated, unpaired bone in the midline beneath the frontal and anterior to the sphenoid bones forming parts of the cranium, the orbits, and the nasal fossae. Its upper border forms the cribriform plate. The bone was known by Celsus and was named by Galen.
found at: http://www.euromyasthenia.org/ cgi-bin/index.php.
European Neuromuscular Centre A centre for coordinating the
various medical and scientific affairs of the European Alliance of Muscular Dystrophy European Brain Council (EBC) Associations. The centre provides some A coordinating council formed by European research funding. Address: Lt. Gen. van Heutzslaan 6, 3743 JN Baarn, The organizations in neurology, neurosurgery, Netherlands. Tel: þ31 (0)35 54 80 481; psychiatry, basic brain research Fax: þ31 (0)35 54 80 499. E-mail: (neuroscience), patient organizations and
[email protected]. Web site: http:// ethnology The science of the physical and industry, and thus with a constituency of mental differences between the races of man. physicians and other scientists, patients, and www.enmc.org/. caretakers. ethology The scientific study of the European Parkinson’s Disease structure of animal behavior by observation; European Confederation of Association A charitable organization. an activity, in Medawar’s phrase, ‘‘which Web site: www.epda.eu.com. Neuropathological Societies A only simpletons think simple.’’ This is a professional organization. Web site: http:// modern science, dating from the paper by European Parkinson’s Disease www.euro-cns.org/start.php. Julian S. Huxley on ‘‘The Courtship Habits Foundation A charitable organization. of the Great Crested Grebe’’ in the Web site: www.parkinsons.org.uk. European Dystonia Federation Proceedings of the Zoological Society of Web site: www.dystonia-europe.org. London in 1914. That the behaviors of man resemble those of animals should come as no great surprise; European Federation of that there are differences allows a measure of Neurological Societies A reassurance. professional organization with the aim of advancing the neurological sciences and clinical and experimental research within E´tienne, Charles (1503–1564) French physician who gave the first account Europe and of fostering international exchange. E-mail:
[email protected]. of the anatomy of the spinal canal. Web site: http://www.efns.org/. Eulenberg, Albert (1840–1917) German professor of neurology in Greifswald European Huntington’s Disease and in Berlin. He described periodic attacks Network Web site: www.euro-hd.net. of myotonia and paralysis in six generations of one family in 1886,1923 wrote extensively European Journal of Neurology on the autonomic nervous system, and The official journal of the European introduced ergot therapy for the treatment of Federation of Neurological Societies (EFNS). migraine. Web site: http://www.blackwell-science. com/~cgilib/jnlpage.asp?Journal¼ene& Eulenberg disease See paramyotonia File¼ene& Page¼aims. congenita.
euphoria (Gr, easily carried) Originally, well-being, the perfect ease and comfort of healthy people.5103 Now used (improperly) to refer to a state of unwarranted, insightless cheerfulness, optimism, and jollity of mood with the ‘‘appropriate’’ (actually inappropriate) verbal and behavioral accompaniments.
European Journal of Neuroscience A subspecialist journal published by Blackwell Science, Oxford, UK. Web site: http:// www.neurosciences.asso.fr/Annonces/ A07032000_1.html.
European Neurological Society
A professional organization. Web site: eupraxic centers Centers in the brain www.ensinfo.com. for the ideational combination of movements. European Neurology (Eur Neurol) A neurological journal published by S. Karger AG, P.O. Box 10, Allschwilerstrasse, CHEuroMyasthenia A Web site that 4009 Basel, Switzerland. Web site: http:// disseminates research results from the European project EuroMyasthenia and www.karger.ch/journals/ene/ene_jh.htm.
European Society of Neuroradiology A professional
organization. Web site: www.esnr.org.
European Stroke Scale. A system used to assess a patient who has recently had a stroke involving the middle cerebral artery.2743 It scores level of consciousness, comprehension, speech, visual fields, gaze, facial movement, four upper limb and three lower limb motor tasks, and gait. See also stroke scales. euroquol See quality of life. euryblepharon (Gr, wide þ the eyelid) A craniofacial malformation in which there is abnormal widening of the palpebral aperture due to deficiency of the palpebral skin.4
eurycephalous (Gr, wide þ the head) Having a large, broad head. euryopia See Greig syndrome. Eustachius (Bartolommeo Eustachio, 1524–1574) Italian physician, professor of anatomy at Rome. He was a contemporary of Vesalius, whose discoveries overshadowed his, not least because Eustachius’ illustrations were only discovered and published 140 years after his death. They showed that he had defined numerous anatomical structures not formerly recognized, including the optic and abducens nerves and much of the anatomy of the sympathetic chain.
Evans index
Evans index The ratio of the transverse
In clinical practice, visual, auditory, somatosensory, and cognitive potentials are those usually recorded, and are regarded as providing reproducible information about the functional status of the relevant afferent sensory channel and as capable of showing abnormalities where none can be ascertained clinically. Their clinical value has been reviewed.1145 Castigated as lucrative, nonspecific, and uninformative by the unconvinced but defended as accurate, relevant, and event-related potentials underused by their champions, the tests in Cortically derived voltage shifts seen when a general inform about electrical disturbances subject is selectively attentive to a provided within a sensory pathway, assist not at all in stimulus and is required to distinguish a pathological diagnosis, and, if regarded as specific stimulus from others. They are extensions of the clinical examination, relatively independent of the physical provide data which the experienced clinician characteristics of the stimulus and appear to may find valuable when they confirm his or monitor a substage of information her clinical impressions, the errant excreta of processing. See contingent negative machines being generally more acceptable to variation and alpha rhythm. the naive than are the judgments of experienced physicians. evoked potential (evoked response) 1. The potential shift in the cortical evoked potential studies The dendritic population underlying surface recording and analysis of electrical electrodes placed on the scalp, occurring in waveforms of biological origin elicited in association with the arrival of impulses response to electrical or physiological signifying peripheral or central stimulation. stimuli in the peripheral and central nervous A wave or complex elicited by and timesystem, whereas nerve conduction studies refers locked to a physiological or other stimulus; to studies of waveforms generated in the for instance, an electrical stimulus delivered peripheral nervous system. to a sensory receptor or nerve or applied There are two systems for naming directly to a discrete area of the brain and complex waveforms in which multiple usually requiring computer summation components can be distinguished. techniques for their detection. (Adapted A. The different components are labeled P1 from the 1974 report of the Committee on or N1 for the initial positive and negative Terminology, IFCN. In: Chatrian GE, potentials, respectively, and P2, N2, P3, Bergamini L, Dondey M, et al. A glossary of N3, etc., for subsequent positive and negative potentials. terms most commonly used by clinical B. The components are specified by polarity electro-encephalographers. EEG Clin and the average peak latency in normal Neurophysiol 1974;37:538–48. Reproduced subjects, to the nearest millisecond. by kind permission of Elsevier Science and the IFCN.) The first nomenclature principle has been 2. An electrical waveform elicited by and used in an abbreviated form to identify the temporally related to a stimulus, most seven positive components of the normal commonly an electrical stimulus delivered to brainstem auditory evoked potential, a sensory receptor or nerve, or applied customarily given in Roman numerals for no directly to a discrete area of the brain, spinal obvious reason; thus, I–VII. The second cord, or muscle. See also auditory EP, nomenclature principle has been used to brainstem auditory evoked potential, spinal identify the positive and negative evoked potential, somatosensory evoked components of visual (N75, P100) and potential, visual evoked potential (SSEP), SSEPs (P9, P11, P13, P14, P20, P23). compound muscle action potential, and Regardless of the system of nomenclature compound sensory nerve action potential. employed, it is possible under standardized (Adapted from the 1987 Report of the conditions to establish normal ranges of Nomenclature Committee of the American amplitude, duration, and latency of the Association of Electromyography and individual components of these evoked Electrodiagnosis and reproduced by kind potentials. The difficulty with the second permission of the AANEM.)162 system is that the latencies of components of diameter of the anterior horns of the lateral ventricles measured at pneumoencephalography (PEG) to the greatest internal transverse diameter of the skull. Since PEG is now obsolete, so is the index; the CT scan allows far better estimation of the size of the ventricles.
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evoked potentials depend upon the length of the pathways in the neural tissues. Thus, the components of a SSEP recorded in a child have different average latencies from the same components of one recorded in an adult. Despite this problem, there is no better system available for naming these components at this time. (Adapted from the 1987 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis. AAEE glossary of terms in clinical electromyography. Muscle Nerve 1987;10S:G5–G23. 1987. All rights reserved. 1987 John Wiley and Sons. Inc. Reprinted by permission.)
evoked response See evoked potential.
evoked seizures (reflex epilepsies) Those seizures regularly provoked by physiological or psychical stimuli. The specific external stimuli include sounds or lights; the internal ones, thoughts or memories. The term was first introduced by Prochaska in the latter part of the eighteenth century, but these events were also recognized by Hughlings Jackson and were fully described by Gowers (1901). Abrupt changes in illumination, reading, music or other sounds, odors, particular movements, eating, startle, noise, pain, touch, emotional upsurges, and complex activities such as playing cards or chess have been described as precipitants.6177 Reflex epilepsy is perhaps not the best or most precise term but is in current usage.3881 See also eating epilepsy. Various seizure types have also been described as triggered by playing or watching the traditional Chinese gambling game ‘‘Mah-Jong’’ in hard form or in a computer version. Anticonvulsant therapy is of moderate value only and abstention appears to be the best therapy.6635 Evoked seizures are classified in Chart E–7.
evolution Change in form over generations; descent with modification. (Darwin)
evolution of the nervous system A concept of Hughlings Jackson regarding the increasing specialization of the nervous system, both up the evolutionary scale and within a hierarchy of organized activity in
Executive Interview (EXIT25)
349
Chart E–7. Classification of Evoked Seizures
exercise-induced muscle pain and stiffness A sporadic condition
presenting with muscle pain and cramps but 1. Reflex epilepsy syndromes with minimal weakness, affecting males A. Simple stimuli more often than females. Serum CK levels are slightly raised, especially after exercise. i. Photogenic epilepsy See also the Web site: http:// a. Television epilepsy www.neuro.wustl.edu/neuromuscular/ b. Self-induced photogenic seizures maltbrain.html. ii. iii. iv. v. vi.
Startle epilepsy Hot water epilepsy Eating epilepsy Rubbing the skin Tooth-brushing
B. Complex stimuli i. ii. iii. iv. v.
Primary reading epilepsy Musicogenic epilepsy Cognitive processing epilepsy Playing Mah-Jong Speech/language
2. Secondary epilepsy with stimulus-evoked seizures A. Simple stimuli such as visual or sound stimuli, or bodily movement B. Complex stimuli such as reading or listening to music.
the human CNS. Evolution consists of a passage from the lowest, most-organized centers up to the highest centers, which are constrained by the least organization; from the most simple to the most complex; and from the most automatic to the most voluntary.61 See also levels of organization.
evolving stroke (stroke-in-evolution) Stroke which is seen to be producing progressive impairment of function with time. Ewald’s Laws 1. A horizontal semicircular canal is maximally stimulated by movement of the endolymph that it contains away from its ampulla. 2. Maximal stimulation of a semicircular canal results in nystagmus with its fast component toward the side which is stimulated, but minimal stimulation produces nystagmus in the other direction.
Ewart phenomenon The elevation of a ptotic eyelid on swallowing—a synkinesis due to aberrant regeneration of fibers running from the VII to the III cranial nerve, joining those fibers innervating the levator palpebrae superioris.464
Excerpta Medica; Neurology and Neurosurgery A neurological review
excitation-contraction coupling The series of events whereby the propagated action potential on the muscle fiber surface membrane leads to the twitch contraction of the fiber.
excitatory postsynaptic potential (EPSP) A local, graded depolarization of a neuron in response to activation by a nerve terminal. Cf. inhibitory postsynaptic potential.
book series. Web site: http:// www.elsevier.com/wps/find/ journaldescription.cws_home/505977/ description#description.
excitomotor system That part of the nervous system concerned in the production of reflex action. The term was applied by Marshall Hall.
excessive daytime drowsiness
excitotoxins Substances which cause
neuronal death as a result of excessive prolonged membrane depolarization. Examples include glutamate, domoic excessive daytime sleepiness acid, kainic acid, quisqualate, (EDS, somnolence) Subjective difficulty in maintaining the awake state, coupled with a N-methyl-D-aspartame, and bicuculline, ready entry into sleep whenever possible.280 a g-aminobutyric acid antagonist. The most common cause is sleep apnea excyclotropia Rotation of the eye but, in some cases, the phenomenon during attempted downward gaze (as with a represents only an augmentation of the IV cranial nerve palsy). normal tendency to be sleepy in the afternoons, though it can progress to a stage in which the need to sleep during this period executive cognitive functions ‘‘The processes that orchestrate relatively is paramount. The result in all cases is lethargy, automatic behavior, fatigue, visual simple ideas, movements or actions into complex goal-directed behaviors. Without problems, and daytime sleep attacks. The symptom also appears in Parkinson disease, them, behaviors important for independent living such as cooking, dressing, or self encephalopathies, the Kleine–Levin care . . . break down into their component syndrome, and with other diencephalic parts.’’5454 Conceptual reasoning, inhibition lesions. See hypersomnolence. of over-learned patterns of behavior, inhibition of responses to salient stimuli, excessive eye-blinks Repetitive mental flexibility, set shifting, blinking either as a result of local ocular irritation or as a prodromal sign of essential organizational ability, planning, regulation and fluency of thought blepharospasm, when it is usually bilateral, of working memory, 3553 are examples. This therefore defines the variable, and associated with ocular irritation complex cognitive processing that requires and photophobia.1853 the coordination of several subprocesses to achieve a particular goal. Loss of executive excessive sleep inertia See control produces apathy, irritability, confusional arousals. impaired spontaneity, and self-neglect is considered to reflect frontal lobe dysfunction excitability The capacity to be activated either at cortical or at subcortical levels. See by or to react to a stimulus. also Stroop Test. See hypersomnolence.
excitability of nerve The property of Executive Interview (EXIT25) accepting and transmitting an electrical A 25-item instrument providing a stimulus. standardized assessment of executive control functions, designed to elicit signs of frontal system pathology such as imitation, excitable cortex The motor and intrusions, disinhibition, environmental premotor regions.
exercise dependency, perseveration, and frontal release etc. Scores correlate strongly and specifically with left mesiofrontal cerebral blood flow by Single Photon Emission Computerized Tomography (SPECT) and left frontal system pathology on MRI and are significant independent predictors of level of care among elderly retirees. High scores indicate impairment. A cut-point of 15/50 is recommended.5451, 5454 See also CLOX and Behavioral Dyscontrol Scale.
exercise (from Lat, to drive on or keep occupied) Voluntary muscular activity.
exercise test Serial electrodiagnostic measurements of the compound muscle action potential (CMAP) every 60 s after a 2–5 min period of exercise of the muscle examined. The test is performed between episodes of weakness in patients with thyrotoxic or familial periodic paralysis, in whom there is usually an initial increase in the amplitude of the CMAP immediately after exercise, followed by a progressive decrease.3121 exertional headache See benign exertional headache.
Exner, Sigmund (1846–1926) Austrian physiologist who described a fiber layer near the surface of the cerebral cortex.
exodic 1. Efferent. 2. (Gr, out of þ a way—in this case the spinal cord) Marshall Hall’s preferred term for reflex motor activity. It has not found favor generally. exogenous psychosis See Bonhoeffer syndrome.
exophasy Thoughts uttered; vocal, audible language. exophoria A predisposition to ocular divergence as a result of impaired fusion, shown by the alternate cover test. exophthalmic ophthalmoplegia The occurrence of proptosis and extraocular muscle pareses in hyperthyroidism. See dysthyroid ophthalmopathy.
exophthalmos (Gr, out þ eye) Protrusion of the eye.
350
exotropia (Divergent strabismus) A explicit memory (declarative condition in which the visual axes of the eyes memory) That form of memory which diverge. See also WEBINO syndrome. requires the conscious recall/recognition of specific information which has recently been presented. This is what is assessed by most of Expanded Disability Status the traditional bedside or office memory tests. Scale See Kurtzke Scale. See also implicit memory and working memory. experiential aura Affective, mnemonic, or composite perceptual explicit memory tests Memory phenomena including illusory or composite tests which require conscious recall/ hallucinatory events and depersonalization, recognition of specific information which appearing alone or in combination in the has recently been presented. Memory context of an epileptic event. They have instructions are usually given at the time of subjective qualities similar to those presentation and the time of retention experienced in life but are recognized by the testing to indicate clearly the nature of the subject as abnormal. task. These tests correspond to most experiential hallucination The
traditional forms of memory tests. See also implicit memory and working memory.
term of Penfield for hallucinations of things formerly seen or heard or experienced, exploding head syndrome The occurring as manifestations of spontaneous occurrence of the sensation as of a loud noise epileptic seizures.4977 in the head during sleep onset (nonrapid eye movement sleep stages 1 and 2) in normal people. The sensation has been likened to a experiential illusions The vivid crack, a loud snap, or a bang, often waking re-experience of past events in which, as the subject who is usually elderly and female. Penfield puts it: ‘‘the subject discovers himself on the stage of the past as well as in The phenomenon is sometimes familial, occurs over years, and is benign.4950 the audience of the present.’’ These illusions were noted by Penfield exploring electrode Any electrode during electrical stimulation of the upper and lateral parts of the temporal lobe at open over the scalp or within the brain substance operation in conscious epileptic patients, but intended to detect EEG activity. Such an electrode is customarily connected to either it was also realized that they occur as input terminal 1 or input terminal 2 of an EEG components of the syndrome of partial amplifier in bipolar derivations and to input complex seizures. terminal 1 of an EEG amplifier in referential experiential responses The term of derivations. See also active electrode, recording electrode, bipolar derivation, and referential Penfield for hallucinations of things formerly derivation. (Adapted from the 1974 report of seen, heard, or experienced, and reproduced 4977 the Committee on Terminology, IFCN. In: by stimulation of the cortex at operation. Chatrian GE, Bergamini L, Dondey M, et al. A glossary of terms most commonly used by experimental allergic clinical electroencephalographers. EEG Clin encephalomyelitis A monophasic Neurophysiol 1974;37:538–48. Reproduced by but sometimes relapsing form of encephalitis kind permission of Elsevier Science and the induced by a combination of cell-mediated IFCN.) immunity to myelin basic protein and an antibody-mediated reaction to express saccades Saccades with galactocerebroside, etc. in which the unusually short latencies (even of 100 ms), as pathology closely resembles that of multiple may occur when the fixation target is sclerosis. extinguished before the new peripheral target appears.3762 expiration:inspiration ratio (E:I Ratio) The ratio of the heart rate measured expressive amusia Loss of a on the electrocardiogram during expiration to previously possessed ability to play a musical the rate during inspiration. This is a reliable instrument, to sing, or to reproduce musical measure of parasympathetic activity.3085 themes.
351
expressive aphasia See Broca
extra-abdominal paraganglionic system
but is increased with pyramidal lesions above reflex extension of the crossed limb, which includes plantar flexion of foot and toes.6622 the L5 level. The reflex informs on the state of the L5 and S1 reflex arcs. The fibular reflex is similar. extensor spasms An epileptic Extended Arms Test A test of syndrome characterized by abrupt extension vestibular system function, in which the external hydrocephalus Expansion of the neck and trunk with extension and subject stands with his arms outstretched abduction of the arms. They are seen typically of the subarachnoid space over the surface of and index fingers pointing at those of the examiner similarly held up. Deviation of the in West syndrome but are less common than the cortex. See also internal hydrocephalus and communicating hydrocephalus. flexor spasms in that condition.72 subject’s fingers on eye closure (in the direction of the slow component of any nystagmus present) suggests vestibular extensor thrust Reflex extension of external malleolar sign See system abnormality. the hip and knee with plantar flexion of the Chaddock reflex. foot and toes in response to pressure upwards Extended Scale for Dementia on the plantar surfaces of the toes; seen in exteroceptive reflex myoclonus An expanded version of the Mattis patients with severe but incomplete spinal Reflex myoclonus triggered by exteroceptive Dementia Rating Scale.2880 cord injuries. Flexion may follow each rather than by proprioceptive afferent extensor movement, giving the appearance discharges, the latter being more commonly of marching.4110 extensive (extended) large identified.2466 subcortical infarcts Large infarcts of the hemispheric white matter, internal external carotid steal Diversion of exteroceptive sensations Those capsule, and basal ganglia due to disease of blood from the vertebral and internal carotid sensations dependent upon receptors in the the internal carotid and/or middle cerebral systems to supply the territory of an skin and comprising touch, temperature, and arteries. The clinical features resemble those occluded external carotid artery.412 surface pain. The other group of sensations of large, middle cerebral artery territory defined by Sherrington was interoceptive, infarcts with dense hemiplegia and external compression headache now better known as proprioceptive. neuropsychological dysfunctions appropriate (swim-goggle headache) Headache resulting to the affected hemisphere. CT and MRI from continued stimulation of cutaneous extinction (from Lat, to quench or show extensive involvement of the nerves by the application of pressure, for destroy) 1. The failure of sensory events from hemispheric white matter and basal ganglia example, by a band around the head, a tight one side to reach awareness, while the subject with cortical sparing. hat, or swimming goggles. Persistent is perfectly aware of similar events occurring compression may lead to a headache simultaneously on the other side. extension-adduction reflex See resembling migraine. Diagnostic criteria 2. The inability to perceive both of two Dagnini sign. have been defined: stimuli in the same sensory channel (visual, auditory, tactile) when they are presented A. Headache with all of the following extensor (from Lat, to stretch out) That simultaneously. characteristics and fulfilling criteria which stretches out; the word applies to Although testing is usually performed by, C and D: those muscles which antagonize the flexors for example, touching the patient on the 1. Nonpulsating and in general act to lengthen the body (or a same spot on each side of the body, touching 2. Increasing over minutes part of it) by straightening it. two places on the same side (e.g., the face and 3. No accompanying symptoms the hand) may also demonstrate that only B. Continuing application of external extensor digitorum brevis one of the stimuli can be perceived.508 See pressure to the forehead or scalp also sensory competition and simultagnosia. reflex Contraction of this muscle with C. Headache develops during pressure and Any modality (or modalities) may be dorsflexion of the second to fifth toes is maximal at the site of pressure affected, both from personal and extrapersonal following a tap on its tendons distally on the D. Headache resolves after pressure is relieved. space. The lesion is usually of the right dorsum of the inverted and plantar flexed From the International Classification of hemisphere, less commonly affecting the foot. The reflex does not discriminate Headache Disorders (Headache Classification corpus callosum. Reduced motor activity on between L5 and S1 radiculopathies.4077 Committee of the International Headache or toward the neglected side, dressing and Society. Cephalalgia 2004; 24[Suppl 1]). constructional apraxias, and denial of illness extensor reflex See extensor response. Reproduced by kind permission of Dr. Jes Olesen, the International Headache Society and are often notable when the lesion is of the right hemisphere. See neglect. extensor response (extensor reflex) Wiley-Blackwell Publications. Extension of the hip and knee and plantar flexion of the foot with stimulation of the external hamstring reflex (biceps extra-abdominal paraganglionic system A group of buttock, perineum, and upper thigh on that femoris reflex, lateral hamstring reflex, side.4110 The Babinski reflex is actually an cell masses associated with the autonomic posterior peroneofemoral reflex) nervous system and characterized by the Contraction of this muscle in response to a integral part of the flexion reflex, never storage of catecholamine granules and occurring without reflex contraction of the tap on its tendon in the lateral part of the exhibiting chemoreceptor function. They popliteal fossa. It is normally just palpable proximal limb flexors. Accessory to this is
aphasia and aphasia.
extracampine hallucinations
352
may be situated in the adrenal medulla, glomus jugulare, or carotid body, around the aortic arch, or on the abdominal aorta. They are generally of low malignancy but may metastasize.6
efferent neuron systems which subserve movement.
years may go on to suffer partial motor seizures for a limited period.1568
extrapyramidal seizures See
extrinsic sleep disorders
paroxysmal choreoathetosis.
extracampine hallucinations
extrapyramidal signs and cataract See Waardenburg syndrome.
Dyssomnias which are causally related to factors outside the body. They are classified by the ASDA as follows:1629
Sensations that another human being is close by, although not seen, because, in fact, not there This may occur in normal subjects under severe stress and also in dementia with Lewy bodies.1087 If pedantic about definitions, one might argue that this actually is not a hallucination at all but rather an illusion or possibly a delusion, because there is no perception— rather a feeling that there is something (someone) there.
extracerebral potential Any potential which does not originate in the brain and is regarded as an artifact in the EEG record. It may arise from electrical interference external to the subject and recording system, from the subject, from the electrodes and their connections to the subject and the electroencephalograph, and from the EEG machine itself. See artifact. (Adapted from the 1974 report of the Committee on Terminology, IFCN. In: Chatrian GE, Bergamini L, Dondey M, et al. A glossary of terms most commonly used by clinical electroencephalographers. EEG Clin Neurophysiol 1974;37:538–48. Reproduced by kind permission of Elsevier Science and the IFCN.) extracranial–intracranial bypass surgery See EC/IC bypass surgery.
extradural hemorrhage See epidural hemorrhage.
extramedullary (Lat, outside þ marrow) Outside the spinal cord.
extraocular palsy Paresis of the extraocular muscles as a result of damage to the III, IV, or VI cranial nerves, the motor end plates, or the muscles themselves and is commonly associated with the complaint of diplopia if vision is retained in both eyes. extrapyramidal pathways Efferent cortical neuron systems other than the pyramidal pathways and all subcortical
Extrapyramidal Symptom Rating Scale A 55-item instrument assessing such symptoms (mainly in the context of treated schizophrenia).1165 Factor analysis differentiates six syndromes: hypokinetic Parkinsonism, orofacial dyskinesia, trunk/limb dyskinesia, akathisia, tremor, and tardive dystonia.
extrapyramidal syndromes Syndromes manifesting excessive involuntary movements (such as chorea, athetosis, dystonia, or tremor) or deficiency of movement, as in Parkinsonism, in which the pathology is considered to involve the basal ganglia or their connections. Diseases of the cerebellum are arbitrarily excluded from this category.
extrapyramidal system The term of Kinnier Wilson for all those efferent mechanisms apart from the pyramidal tract which have to do with the control of motor activity. A complex of deep motor nuclei (the basal ganglia) including the striatum, globus pallidus, and substantia nigra, which project through the thalamus to the cortex. Less formally, he referred to these as ‘‘the dark basement of the brain.’’ Although the term is in very general use, the system has no rigid anatomical boundaries but extends from at least the olives to the cortex; it functions in ways other than those affecting motor control, and how these are achieved remains unknown. The very obvious contribution to motor control of the cerebellum and its pathways, nevertheless, does not gain it admittance.4345 extreme somatosensory evoked potential High-voltage somatosensory action potentials in response to tactile stimulation of the feet, recorded over the scalp in a small minority of apparently normal children who within 2
1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. 14.
Inadequate sleep hygiene Environmental sleep disorder Altitude insomnia Adjustment sleep disorder Insufficient sleep syndrome Limit-setting sleep disorder Sleep-onset association disorder Food allergy insomnia Nocturnal eating (drinking) syndrome Hypnotic-dependent sleep disorder Stimulant-dependent sleep disorder Alcohol-dependent sleep disorder Toxin-induced sleep disorder Extrinsic sleep disorder not otherwise specified
From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester MN. American Academy of Sleep Medicine 1991/2001. Reproduced by kind permission of the Academy. See also http://www. sleepeducation.com/Disorders.aspx.
eyeblinks Spontaneous blinks are bilateral, paroxysmal, brief, repetitive eye closures occurring continuously and in the absence of obvious external stimuli, with their rate correlating with the level of central dopaminergic activity.3318 eyebrow lifting test A bedside maneuver differentiating ptosis due to facial muscle weakness from that due to paresis of the levator palpebrae superioris. When the eyebrow is pushed up by the examiner’s thumb, the narrowing of the palpebral fissure is abolished only in cases of VII palsy.4772
eye–jaw synkinesis Movement of the jaw in the direction of gaze; often a normal phenomenon. eyelid apraxia Difficulty in the voluntary opening or closing of the eyelids, while such movements are possible involuntarily. It is reported in extrapyramidal and motor neuron diseases.33
Eysenck Personality Inventory
353
opening.
complexes.3177, 226 See also photosensitive epilepsies.
eyelid myoclonia An unique entity
eye-of-the-tiger sign Marked eyelid myoclonus Marked jerking of decrease of the T2-weighted MRI signal in
eyelid freezing See apraxia of eyelid
comprising recurrent events at 5–6 Hz associated with impairment of consciousness, sometimes provoked by eye closure.1861
eyelid myoclonia with (typical) absences An unusual photosensitive myoclonic epilepsy of childhood and adolescence characterized by marked jerking of the eyelids with upward deviation of the eyes following eye closure in a lighted environment, in association with what is otherwise a typical absence attack, the whole sequence lasting less than 5 s. Photic stimulation is also a precipitant. Small jerks of the head and hands are occasionally seen as well. The EEG shows 3–5 Hz paroxysmal generalized bursts of mainly polyspikes and polyspike-slow waves at 3–6 Hz and irregular 3 Hz spike-and-wave
the eyelids, often with jerky, upward deviation of the eyeballs and the head, sometimes associated with or followed by mild impairment of consciousness lasting 1–2 s. In the variant condition absences with eyelid myoclonus, more prolonged eyelid myoclonus accompanies some forms of absence seizure. Patients with eyelid myoclonus are prone to induce it themselves by complex repetitive self-stimulation by, for example, deliberate fluttering of the eyes and hyperextension of the head in front of a bright light source, thus experiencing intermittent photic stimulation. Orbitofrontal photomyoclonus is similar but is not regarded as a true seizure event. Eyelid myoclonic status consists of repetitive and discontinuous episodes of eyelid myoclonia with mild absence. See Jeavons syndrome.
eyelid twitch sign See Cogan signs.
the pallidal nuclei, with a centrally located area of increased signal as a result of iron deposition, tissue necrosis, and edema, described in neurodegeneration with brain iron accumulation (pantothenate-kinase associated neurodegeneration, Hallervorden– Spatz disease) with acanthocytosis.2896
eye-winking tics Rapid, exaggerated, coordinated contractions of the orbicularis oculi muscles, under a degree of voluntary control, increased by boredom or anxiety and usually occurring in boys. They disappear after a few years.3753 Eysenck Personality Inventory A self-administered scale yielding scores on two dimensions of personality: neuroticism-stability and extraversion–introversion.1941
f F wave A compound action potential evoked intermittently from a muscle by a supramaximal electrical stimulus to the nerve. Compared with the maximal amplitude M wave of the same muscle, the F wave has a smaller amplitude (1–5% of the M wave) and more variable configuration and latencies. The F wave (so named by Magladery and McDougal in 1950 because they first identified it in muscles of the foot) can be found in many muscles of the upper and lower extremities, and its latency is longer with more distal sites of stimulation. It is due to antidromic activation of motor neurons. (Adapted from the 1987 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis. AAEE glossary of terms in clinical electromyography. Muscle Nerve 1987;10S:G5–G23. 1987. Reproduced by kind permission of the AANEM.) These small, variable, and delayed electrical accompaniments of the muscle potentials are evoked by stimulation of a motor nerve. They do not represent reflexes but are due to the antidromic activation of motoneuron cell bodies in the anterior horn cell pool as a result of a supramaximal
electrical stimulus that passes both distally to activate the muscle and proximally back to the spinal cord, evoking the F waves irregularly. The F wave almost always evaluates more than one segmental level. It traverses only the ventral root. Prolonged minimal latency, chronodispersion, persistence, and impersistence or absence of the wave have all been studied, but the parameter most useful in diagnosis remains undetermined2183 and its methodology unstandardized.4883 Although routinely performed, this appears to be a test still in search of an application.
Fabry, Johannes (1860–1930) German dermatologist.
Fabry disease (Fabry–Anderson
syndrome, angiokeratoma corporis diffusa, trihexose ceramide lipidosis, hereditary dystopic lipidosis; OMIM 301500) A progressive X-linked recessive lysosomal storage disease (a sphingolipidosis) affecting glycolipid metabolism in which there is abnormal accumulation of ceramide trihexoside in the ganglion cells, the blood vessels, kidneys, corneas, and heart due to deficiency of -galactosidase A (GALA). The genetic defect maps to chromosome F wave tacheodispersion The Xq21.3q22. distribution of the conduction velocities of Its major features appear in young adult individual nerve fibers, or of small groups of life and include a deep red papulomacular nerve fibers, as estimated from repetitive skin rash mainly involving the swimrecording of 30 or more consecutive F waves shorts area and thighs, crises of burning in a given nerve. The technique may be more pain in the limbs, edema, hyperhidrosis, sensitive than routine motor nerve fever, corneal opacities, renal impairment, conduction velocity recordings in detecting strokes (mainly in the posterior motor neuropathies.1172 circulation), and peripheral neuropathy, all due to deposition of the abnormal glycolipids.660, 1945 FABERE Test (Flexion, ABduction, External Rotation, Extension) See Patrick Fabry in Germany194 and Dr. W. Anderson Test. Pain during the performance of this in England described the disease in the same test suggests sacroiliac or hip joint disease. year (1898).
facial palsy
355
Fabry–Anderson syndrome See Fabry disease.
face–hand test A test of tactile inattention in which the subject is touched on one or two points of the body simultaneously and asked to report the locations of the stimuli.2062 Simultaneous touch stimulations of the cheek and hand on one side are normally both appreciated; children and patients with organic mental syndromes tend not to be aware of the touch on the hand (extinction) while they do appreciate that on the face. In a variant of the test, the hand and foot are touched simultaneously. In organic mental disease, the foot ‘‘dominates’’ and the touch on the hand is again ‘‘extinguished.’’2062 face of the giant panda sign The appearance on the MRI scan of focal atrophy of the mid-brain tegmentum with relative hypointensity of the red nucleus and hyperintensity of the superior colliculus, as seen in axial views in Wilson disease.5648 Similar appearances in the pons have led to the appellation ‘‘face of the miniature panda’’ sign. See also double panda sign. Names such as these are somewhat fanciful but one has to bear with it.
facet (Lat, a small plane surface) A circumscribed articular surface, as in the vertebral column.
facial arthromyalgia See temporomandibular pain and dysfunction syndrome and Costen syndrome. facial asymmetry A minor dysmorphism recognized in some healthy people and in a proportion of patients with complex partial seizures of temporal lobe origin. Unilateral facial weakness during emotional expression on the side contralateral to the cerebral lesion is the usual sign.5264
They are usually benign, though they may be a sign of any brainstem disorder. The definitive diagnosis is made using the EMG, which shows double discharges and brief, repetitive bursts of motor unit potentials interrupted by periods of silence for a few seconds, variably appearing in a regular pattern at 6–100 Hz.2922
facial nevi, anomalous cerebral venous return, and hydrocephalus A rare syndrome
manifesting macrocrania, bilateral facial nevi, and anomalous intracerebral venous trigeminal neuralgia. drainage, described in infancy and once in an adult, suggesting that the prognosis is facial diplegia A benign variant form of benign.5759 the syndrome of multiple cranial nerve palsies in which bilateral facial weakness is facial onset sensory and motor associated with little if any detectable neuronopathy A rare syringomyeliaweakness of the limbs, nor with sensory like neurodegenerative syndrome reported in 1114, 5812 loss. adult males who present with paresthesias
facial chorea (chronic chorea) See
and numbness, but in trigeminal nerve distribution; this slowly progresses to and sensitive grading system for facial nerve involve the scalp, neck, upper trunk, and injury, assessing resting symmetry, arms in order. Cramps, fasciculations, voluntary movement, and synkinesis.5417 dysphagia, dysarthria, muscle weakness, and Nine other Facial Nerve Injury Grading atrophy develop later. Neurophysiological systems are presented at http://www. studies reveal a generalized sensorimotor medal.org/visitor/www/active/ch17/ axonal neuronopathy of caudally decreasing ch17.aspx. severity. The pathogenesis of the syndrome is not known.5826
Facial Grading System A simple
facial hemangioma and cerebral corticovascular dysplasia facial palsy Weakness of the muscles of A syndrome of dysplastic intracranial arteries and frontal polymicrogyria or dysplastic cortex associated with seizures in children with facial hemangioma.263
the face, including the periorbital muscles, as a result of a lesion of the VII cranial nerve, first described by Nicolaus Friedreich facet syndrome (facet tropism) Pain (1761–1836), a German physician, in thought to arise from disease of the lumbar 1797655 and thereafter by Sir Charles Bell in facet joints. A developmental or acquired facial hemiatrophy See Parry– 1821. In 1903 Cushing reported successful degeneration of the cartilage with Romberg syndrome. reinnervation after anastomosis with the subluxation of the facet joints (posterior accessory nerve. See Bell palsy. zygoapophyseal joints) of the vertebrae so facial hemihypertrophy See Although facial palsy may recur on the that they are aligned in different planes Friedreich disease. same side or on the other, simultaneous (coronal and sagittal). This usually occurs at biflateral facial palsy is not likely to lumbosacral levels, leading to muscle spasm facial migraine See carotidynia. represent Bell palsy and is more likely to be and local pain, aggravated by twisting and due to sarcoid, leukemia, pseudobulbar extension, referred to the buttocks and the facial myoclonus Generalized, palsy, acute inflammatory polyneuropathy, posterior thigh, with stiffness and sometimes bilateral facial twitches usually or various autoimmune, malignant, 2510 scoliosis. due to lesions of the brainstem or metabolic, or infectious causes. See also Although a reputed cause of low back contralateral cortex. Melkersson–Rosenthal syndrome, Stevens– pain, the response to facet joint injection in Johnson syndrome, Wernicke–Korsakoff such patients neither correlate with nor syndrome, and idiopathic intracranial facial myokymia Involuntary predict their clinical results after solid hypertension. undulations or worm-like writhings of the posterior lumbar fusion and this may not in facial muscles, usually in the orbicularis The nerve was first noted to be a separate fact be a reliable clinical diagnosis.3130 structure from other cranial nerves (the oculi, most commonly due to anxiety or overtiredness but sometimes associated with ‘‘portio dura’’) by Thomas Willis but was named and numbered by Soemerring. brainstem lesions, as in multiple sclerosis. facet tropism See facet syndrome.
facial paraspasm Variants are a form of congenital facial palsy described with dominant inheritance but without the other features of M}obius syndrome,6538 and emotional (mimetic) facial palsy, a rare condition in which the facial paresis is only apparent with reflex movements of the hemi-face, as with smiling and laughing, described following a small infarction of the anterior limb of the internal capsule.
facial paraspasm See blepharospasm. facial recognition test A nonmemory matching task, used as a test of visual perceptual function.533
facial reflex Visible contraction of the orbicularis oris muscle in response to stretch applied when the examiner’s finger pulling gently on the side of the mouth is tapped by a reflex hammer. The contraction is seen in patients with bilateral, diffuse lesions of the cortex and in those with damage to the corticobulbar fibers from the contralateral hemisphere. The subject of facial reflexes was reviewed by Kugelberg.3587
facial tics Brief, single repetitive, coordinated, semipurposeful stereotyped movements of the facial and neck muscles, occurring physiologically or in association with diffuse encephalopathy or the use of anticonvulsants, caffeine, methylphenidate, and anti-Parkinsonian agents. Grimacing, throat clearing, and vocalizations are the usual presentations.
356 1. The improvement of neuromuscular transmission through the activation of previously inactive muscle fibers. This may be identified in several ways:
in which numerous skeletal and visceral abnormalities are associated with mental and developmental delay.1799
• There is an increase in the amplitude and area of successive M waves during repetitive nerve stimulation. • Nerve stimulation studies performed within a few seconds after a brief period (2–60 s) of nerve stimulation producing tetanus or after a strong voluntary contraction may show changes in the configuration of the M wave(s) compared to the results of identical studies of the rested muscle as follows:
faciolingual syndrome A clinical combination of hemiparesis affecting the lower face and the tongue with some degree of dysarthria but without any aphasia. This was first described by De´je`rine and Klumpke1541 in 1901, who identified the presence of a small infarct in the genu of the contralateral internal capsule. See also capsular genu syndrome.
a) Repair of the decrement. A diminution of the decrementing response with slow rates (2–5 Hz) of repetitive nerve stimulation; b) Increment after exercise. An increase in the amplitude and area of the M wave elicited by a single supramaximal stimulus. Distinguish from pseudofacilitation, which occurs in normal individuals in response to repetitive nerve stimulation at high rates (20–50 Hz) or after strong volitional contraction. It probably reflects a reduction in the temporal dispersion of the summation of a constant number of muscle fiber action potentials and is characterized by an increase in the amplitude of the successive M waves with a corresponding decrease in their duration. There is no net change in the area of the negative phase of successive M waves. This represents post-activation or post-tetanic facilitation.
syndrome.
facial vision of the blind (fersinn, sixth sense, sense of obstacles) The unexplained ability of the blind to be at least 2. An increase in the amplitude of the partially aware of the presence of certain motor-evoked potential as a result of objects before them. This might be due to background muscle activation. aural or thermal cues. (From the 2001 Report of the Nomenclature Committee of the American Association of
facies paralytica The facial expression Electromyography and Electrodiagnosis.19 encountered rather constantly in patients with general paresis; lack of activity in the muscles of facial expression, asymmetrical and variable facial weakness, and lack of wrinkling of the forehead were described as characteristic.
Reproduced by kind permission of the AANEM.)
facilitatory paratonia A variant of paratonia in which the patient acts in the same direction as the passive movement, rather than in the opposite direction. Its presence predicts lower scores on tests of 603 facilitation An increase in an electrically cognitive function. measured response following identical stimuli. It occurs in a variety of faciocardiorenal syndrome A circumstances: recessively inherited dysmorphic syndrome
faciolinguopharyngomasticatory diplegia See anterior operculum
facioscapulohumeral atrophy See hereditary motor neuropathy (variants).
facioscapulohumeral dystrophy (Landouzy–De´je`rine syndrome) A group of relatively common, slowly progressive, dominantly inherited muscular dystrophies with the usual onset in childhood or youth, in which the common factor is asymmetrical weakness and wasting of the muscles of the shoulder girdle (especially the periscapular and humeral muscles), the face, and the proximal leg, eventually accompanied in most cases by peroneal weakness.3675 The smile is typically transverse and there may be marked weakness of eye closure. Scapular winging and horizontally positioned clavicles, dysarthria, and difficulties in whistling or arm raising are common initial symptoms. Variable trunkal involvement leads often to a positive Beevor sign. There is wide variability in age at onset, disease severity, and side-to-side symmetry. Associated manifestations include highfrequency hearing loss and retinal telangiectasias. The responsible gene is located at chromosome 4q35 (double homeobox protein 4, DUX4), where there is a deletion of a fragment of DNA and an array of tandem repeat units. Despite the accepted eponyms, Duchenne described the condition in 1868 (as occurring congenitally). The syndrome is clinically heterogeneous. Both neurogenic2009 and myopathic diseases with facioscapulohumeral distribution have been identified and in some cases
falciform lobe
357
mitochondrial changes have been detected.6225 The numerous variants include the following: Facioscapulohumeral muscular dystrophy 1b, also dominantly inherited but without linkage to the 4q site. A lethal, dominantly inherited infantile form in which there is a severe muscular dystrophy with onset in infancy and death in adolescence. Although the disease is dominantly inherited, the parent may be only minimally affected. Facial weakness is the first sign, while bulbar dysfunction, hypotonia, progressive proximal weakness, and subsequent respiratory insufficiency follow.336 A form with late exacerbation. Another with facial sparing.2004 A disputed form with recessive inheritance.379 A childhood form in which features of Mo¨bius syndrome are also present.2739 Facioscapulohumeral dystrophy and deafness: A congenital myopathic syndrome characterized by proximal and facial myopathic weakness and deafness. This may be an integral part of the basic syndrome.886 Facioscapulohumeral dystrophy and Coats syndrome: A dysmorphic syndrome with onset in infancy manifesting also sensorineural deafness, exudative retinal telangiectasia, detached retina, and tortuosity of the retinal vessels, ptosis, facial, proximal and distal myopathic weakness, and mental and developmental delay.2370, 6233 An early-onset form with added epilepsy and mental retardation.2241
faculty (from Lat, capability) 1. A special power or ability of the mind. 2. The academic staff of an institution of learning. The two generally correlate. fading athlete syndrome The ascription of declining performance by skilled athletes to a neuromuscular disease, a reaction considered to be psychogenic.5446 Fahn–Marsden Scale An instrument rating the severity of abnormal involuntary movements, accessible at http:// www.mdvu.org/library/ratingscales/ dystonia/bfm_scale.pdf/.
Fahr, Theodor (1877–1945) German pathologist who graduated at Giessen and eventually became professor of pathology in Hamburg. His publications mainly concerned renal and vascular diseases. He was not the first to describe familial calcification in the basal ganglia, nor, in retrospect, have his observations been regarded as completely accurate.
Facioscapulohumeral Dystrophy Society A charitable organization in this field. Address: 3 Westwood Road, Lexington, MA 02420. Tel: 781-860-0501. E-mail:
[email protected]/. Web site: http:// www.fshsociety.org/.
facioscapulohumeral spinal muscular atrophy A variant of the usual proximal pattern of hereditary motor Figure F–1 Theodor Fahr. neuropathy in which dominantly inherited weakness and wasting occur in the above distribution.2009 Nevertheless, whether this Fahr syndrome See striatopallidal syndrome represents a neuropathic rather than calcification. a dystrophic disorder is not firmly established. failed back syndrome Continuing pain in the back following surgery, occurring factitious disorder The conscious fabrication of symptoms and signs, whether almost exclusively in patients who have been or not the motivation to do so is perceived by operated on for the wrong reasons. Good reasons to operate on a patient with back the patient.Clues to the presence of this pain presumed to be due to a herniated disc disorder have been suggested by include the following: Eisendrath.1825
1. Radicular pain in the appropriate distribution and under the proper conditions. (Axial pain is almost never relieved by surgery.) 2. Clinical signs of radiculopathy. If the radiculopathy is acute (e.g., sudden foot drop), the need for surgery may be urgent. Cervical myelopathy may be another indication. 3. The symptoms and signs did not remit after appropriate conservative therapy. 4. The imaging studies are consonant with the signs and symptoms.
failure of visuoconstructive ability See constructional apraxia. faint 1. Weak or languid. 2. (syncope, swooning) Reduction in consciousness with loss of power of the body and the mind as a consequence of reduced cerebral blood flow. fainting (from Gr, to cut short) A sense of impending dissolution, usually with dimming or loss of vision and eventually loss of consciousness and motor tone, leading to loss of the upright posture and due to reduction in cerebral blood flow. Fairbank syndrome A developmental anomaly, characterized by facial dysmorphism, short hands and digits, turribrachicephaly, exophthalmos, enlarged sella turcica, and metaphyseal and epiphyseal changes.2504 See craniosynostosis.
Fajersztajn crossed sciatic sign In sciatic root irritation, the hip can only be flexed when the knee is flexed, not when it is held straight, and pain is felt on the side of the root irritation during performance of the Lase`gue manoeuvre on the healthy side. This really amounts to the straight-leg raising test from a different aspect.
fakirism Control of the body’s motor and sensory processes as a result of mental concentration. Thus, for example, pain may not be felt in circumstances which would otherwise be extremely unpleasant—classic examples being fire-walking or a lying on a bed of nails. During such times the EEG records generalized theta activity.
falciform lobe (from Lat, resembling a sickle) Schwalbe’s term for the limbic lobe.
Falconer, Murray
358
Falconer, Murray (1910–1988)
The classic example is an unilateral VI cranial nerve palsy due to stretching of the nerve as a result of increased intracranial pressure rather than as a result of the direct compressive effect of the mass. Other examples include dementia with temporal Falconer–Weddell syndrome See lobe tumors; anosmia; visual field defects; anisocoria, pupillary paresis, nystagmus, thoracic outlet syndrome. ptosis, VI nerve palsy, and gaze palsies; initial contralateral mydriasis with frontal fall risk index A standardized tool to lobe hemorrhage;1131 trigeminal paresthesia assess the risk of falling in patients with 6328 or pain; cerebellar signs; frontal ataxia, dysequilibrium. pyramidal deficits; neck stiffness; proptosis; hypothalamic disturbances and decerebrate fallen fontanelle (caida de mollera) rigidity, all being associated with increased Depression of the anterior fontanelle, a sign intracranial pressure. of childhood trauma, as in the battered baby Signs referable to dysfunction of regions 2603 (child) syndrome. in immediate proximity to a lesion are considered to be ‘‘neighborhood’’ signs and falling seizures (akinetic or astatic not falsely localizing.2302 seizures; myoclonic-astatic seizure) Epileptic seizures of which the major feature is a sudden fall to the ground forward, preceded false Rombergism Wildly excessive swaying without falling, seen when the by a jerk of the axial muscles. The EEG Romberg Test is performed by subjects with shows a spike–wave complex, the spike psychogenic complaints of imbalance. The usually associated with the myoclonic jerk and the slow wave with the loss of tone. See remarkable gyrations without falls that are occasionally witnessed actually indicate myoclonic epilepsies. superior balance. Neurosurgeon, born in New Zealand. He practiced at the Guy’s-Maudsley Unit in London, UK, where he specialized in the surgical treatment of epilepsy.
Fallopius (Gabriel Fallopio, 1523–1563) Italian professor of anatomy and botany at Padua. His observations of greatest relevance to neurology were his descriptions of the facial canal in 1561 and of cranial nerves IV, V, IX, and X. His drawings demonstrate that he had noted the anatomy of the arterial circle at the base of the brain well before Willis.
false sago palm A tree growing in the Western Pacific region, the seeds of which contain the neurotoxic agent cycas circinalis considered responsible for Lytico–Bodig.
false image The less distinct and more
falx cerebri, falx cerebelli (Lat, sickle + brain or little brain) Condensations of the dura mater which divide and support the two lobes of each structure.
peripheral image, coming from the affected eye of a patient with diplopia. The mechanism responsible for the loss of clarity is the reception of light from the object by a part of the retina other than the macula.
and/or simple motor seizures of one or both legs as a result of an interhemispheric subdural hematoma or empyema.3870
false localizing signs Clinical neurological signs which do not arise from damage to the area of the primary lesion in question, and which suggest incorrectly that it is situated at a certain site. This may reflect dysfunction remote from the expected anatomical locus of pathology.3700 The lesion itself is usually a tumor causing increased intracranial pressure, either the mass or more often its pressure effect leading to traction upon, or displacement or compression of, other intracranial structures, or interruption of the their blood supply.
FAME2 locus; and FAME3, manifesting frequent seizures, cerebellar ataxia, dementia, and a progressive course without linkage and to the other sites for FAME.1032
familial acephalgic migraine The occurrence of migraine auras (usually visual and paresthetic and precipitated by bright lights) in the absence of headache. The condition has been reported as dominantly inherited.6971 familial acoustic neuroma See neurofibromatosis 2.
familial adult myoclonic epilepsy (FAME; familial cortical myoclonic tremor, familial cortical tremor with epilepsy, familial essential myoclonus and epilepsy, familial benign myoclonus epilepsy of adult onset) A dominantly inherited nonprogressive epileptic syndrome of young adults characterized by myoclonic jerks in the limbs, trembling of the fingers, cerebellar signs, and rare generalized tonic clonic seizures. It is linked to chromosome 8q24, though the condition is likely to be heterogeneous.
familial adult myoclonic epilepsy See familial adult myoclonic epilepsy.
familial Alzheimer disease See Alzheimer disease.
familial amaurotic idiocy (Tay falx syndrome Acute and severe paresis Sachs disease) See GM2 gangliosidoses. familial amyloid neuropathy
A group of inherited diseases, variously inherited, but all characterized by the extracellular deposition of fibrillar material fame may be considered as a variant of in body tissues, predominantly in the progressive myoclonic epilepsy or juvenile nutrient blood vessels of the peripheral myoclonic epilepsy. It differs from these conditions in its onset in adult life and usual nervous system. The main precursor proteins genetic locus but, like them, presents with encountered are transthyretin, variable limb myoclonus, some tonic–clonic apolipoprotein A1, or gelsolin, but mutations in the transthyretin protein are seizures and a benign course. The disorder responsible for the sensory or autonomic was reported first from Japan.5046 neuropathies that constitute the major Two variants are autosomal dominant clinical syndromes, though ocular and cortical myoclonus and epilepsy, a disorder cardiac manifestations are also common and characterized by complex partial seizures leptomeningeal amyloidosis and may be (and mental retardation in some cases) manifest as a cerebral hemorrhage or mapping to chromosome 2p11.1, the
familial bilateral striatal necrosis
359
Chart F–1. Forms of Familial Amyloid Neuropathy Amyloidosis type I, dominant (Andrade, Portuguese type) A dominantly inherited syndrome due to an abnormality of the plasma protein transthyretin (prealbumin), for which the abnormal gene maps to 18q1.2q12.1. Clinically, the condition manifests an axonal thin-fiber neuropathy that presents with spontaneous pains in youth or early adult life, and with more generalized motor, sensory, and autonomic dysfunction plus cardiac, renal, and ocular involvement later. Selective early losses of A-delta and C fibers in the peripheral nerves are characteristic.197,196 At least 40 other transthyretin mutations producing amyloidoses are also described. Amyloidosis type I, recessive type (Portuguese type) A recessively inherited syndrome also due to transthyretin abnormalities, characterized by the onset in mature adult life of axonal thick- and thin-fiber sensorimotor and autonomic neuropathy (often presenting as carpal tunnel syndrome) with vitreous opacities and cardiac involvement.6948 Amyloidosis type II (Rukavina or Indiana types) A dominantly inherited acropathic sensorimotor axonal neuropathy with adult onset, mainly affecting the arms. The early symptoms are those of carpal tunnel syndrome, evidence of generalized polyneuropathy appearing years later. Sclerodermatous skin thickening and both corneal and vitreous opacities are common early and cardiac involvement a late complication.4022, 5467 Apolipoprotein-A1 is the mutated protein in this case. Amyloidosis type III (Van Allen or Iowa type) A dominantly inherited syndrome with young adult onset of severe and widespread sensorimotor neuropathy with associated cataracts, deafness, peptic ulcer disease, and later autonomic effects, due to widespread deposition of amyloid which eventually leads to renal failure. Type III familial amyloid polyneuropathy is thus similar to type I, but has a later age of onset.6464, 6465 The genetic defect maps to 11q23–q24. Amyloidosis type IV (Finnish type, Gelsolin variant, cranial neuropathy) A dominantly inherited form characterized by the onset in mature adult life of facial and bulbar cranial neuropathies, followed years later by mild thick- and thin-fiber sensorimotor and autonomic neuropathy, atrophy of the skin, corneal lattice dystrophy, and renal and cardiac involvement.4322 The genetic base substitution responsible is located at 9q33, codon 187 of plasma gelsolin complementary DNA.3464 Amyloidosis type V with cranial neuropathy and corneal lattice dystrophy (Jewish type) A variant due to abnormality of gelosis, for which the responsible gene maps to 9q32–q34.2253 Amyloidosis type VI with variant prealbumin (Appalachian type) A dominantly inherited form with late onset.6607 Amyloidosis type VII (oculomeningeal or Ohio type) A form characterized by the onset of cerebrovascular changes in young adult life, leading to emotional lability, abnormality in consciousness, seizures, dementia, and pyramidal and cerebellar signs.2496
infarction; dementia; hydrocephalus; ataxia; spastic paraparesis; or seizures.5045 Forms that have been identified are listed in ‘Chart F–1. See also amyloid neuropathy. For a recent review, see Adams (2001).49 Other variants are as follows: Trigeminal neuropathy with nasal ulceration,5981 and dominant familial amyloid neuropathy with severe cardiac involvement, which is an unusually early and severe cardiomyopathy occurring in the setting of familial amyloidosis;5568 and a dominantly inherited form mapping to chromosome 20.3441 See also Dutch cerebral hemorrhage.
familial amyotrophic chorea with acanthocytosis See neuroacanthocytosis.
familial amyotrophic lateral sclerosis See amyotrophic lateral sclerosis.
familial antiphospholipid antibody syndrome A genetically determined disorder of blood predisposing to stroke and as yet unmapped.
state which presents with dystonias and retinal degeneration.4413
familial ataxic diplegia See Fanconi–Turler syndrome.
familial (autosomal dominant) focal epilepsies Monogenic forms of epilepsy determined by mutations in susceptibility genes, most of which code for either voltage-gated or ligand-gated ion channel subunits, and thus representing channelopathies. The following syndromes have been recognized: benign familial neonatal seizures, benign familial infantile seizures, autosomal dominant nocturnal frontal lobe epilepsy, familial mesial temporal lobe epilepsy, familial lateral temporal lobe epilepsy, and familial focal epilepsy with variable foci.
familial benign essential chorea See hereditary nonprogressive chorea. See also Huntington disease.
familial benign myoclonus epilepsy of adult onset See familial familial apoceruloplasmin deficiency A rare inherited dysmetabolic adult myoclonic epilepsy.
familial benign neonatal convulsions An inherited tendency to generalized tonic–clonic seizures in the neonatal period. The responsible gene maps to chromosome 20.
familial benign recurrent vertigo An unusual cause of attacks of uncomplication vertigo, mapped to 22q12.
familial bilateral striatal necrosis (infantile bilateral striatal necrosis, familial holotopistic striatal necrosis, juvenile Leigh disease, familial cerebral degeneration chiefly affecting the lenticular nucleus, symmetrical degeneration of the neostriatum, familial holotopistic striatal necrosis, familial striatal degeneration) A rare maternally inherited, missense mitochondrial ATPase mutation causing a pallidonigrostriatal degeneration resembling Leigh disease without the progression. The condition is characterized by childhood onset of an acute disturbance of consciousness followed by progressive rigidity with pyramidal signs, hyperactivity, involuntary movements such as athetosis, tremor and myoclonus, and dysphasia. Loss of spontaneous movements, seizures, mental retardation, and stereotyped responses to all stimuli are also described, as are subacutely
familial brachial plexus palsy progressive athetosis, rigidity leading on to hypotonia, dysarthria and dysphagia, and mental retardation. Pathologically, there is with marked symmetrical neuronal loss in the caudate nucleus and putamen. The brainstem is spared.5352, 6314, 4928 The condition might represent a form of parainfectious encephalitis2202 but an X-linked form is considered to be a variant of Leigh disease.4227
360
syndrome of retinal cavernous angioma and/ familial congenital corneal or skin hemangiomas.1674 anesthesia A rare, dominantly inherited syndrome of isolated corneal anesthesia with familial cerebellar ataxia and secondary trophic lesions.3506 hypogonadism The association of cerebellar ataxia with primary familial cortical myoclonic hypogonadism. Whether this is fortuitous or tremor See familial adult myoclonic etiologically meaningful is not clear.4182 epilepsy.
familial cerebellar ataxia with cerebrovascular amyloid See
familial brachial plexus palsy See cerebellar ataxias (variants). neuralgic amyotrophy.
familial British dementia with amyloid angiopathy An autosomal dominant condition characterized by dementia, progressive spastic tetraparesis, and cerebellar ataxia with onset in the sixth decade and due to a point mutation in the BRI gene. A common ancestor has been identified between the large pedigree and a case report of ‘‘familial cerebellar ataxia with amyloid angiopathy’’; neurological examination was abnormal in three, with limb and gait ataxia and mild spastic paraparesis. Three had impaired recognition and recall memory and another had mild impairment of delayed visual recall. All affected individuals had an abnormal MRI of the brain, consisting of deep white matter hyperintensity on T2-weighted scans and lacunar infarcts, but no intracerebral hemorrhage. The corpus callosum was particularly affected; in one patient it was severely atrophic.4268
familial cerebral amyloidosis with spongiform encephalopathy A dominantly inherited infiltrative spongiform encephalopathy, also involving the peripheral nervous system and affecting mature adults who develop dementia; apraxias; ophthalmoplegia; nystagmus; pyramidal; extrapyramidal and cerebellar signs; and both sensory and autonomic neuropathies. See Gerstmann–Straussler– Scheinker syndrome.
familial cerebral amyloid angiopathy (Dutch type) A dominantly inherited condition mapped to 21q– 21.3q22.05 and leading to cerebral hemorrhages.
familial cerebral cavernous hemangiomas See cavernous angioma.
familial cortical tremor, epilepsy, and mental retardation A rare, dominantly inherited syndrome manifesting action tremor seizures and mental retardation with diffuse spike-and-wave EEG activity and photoparoxysmal responses as well as the usual features of cortical reflex myoclonus.1837
familial cortical tremor with epilepsy See familial adult myoclonic epilepsy.
familial cramps and muscle pain A syndrome with its onset in youth, characterized by muscle pain or cramps, incontinence, and the clinical and pathological features of mild myopathy. See adolescent familial cramps.
familial Creutzfeldt–Jakob disease See Creutzfeldt–Jakob disease.
familial Cushing syndrome (Swiss syndrome, Carney complex) A rare familial cerebral degeneration autosomal dominant disorder characterized familial calcification of the basal chiefly affecting the lenticular by mesenchymal tumors including cardiac ganglia See striatopallidal calcification. nucleus See infantile bilateral striatal and cutaneous myxomas, and by spotty skin necrosis. pigmentation, functional endocrine familial calcification of the overactivity, and Schwannomas of the brain, iron storage, and familial cerebral sarcoma The rare peripheral nerves.1021 porphyria See striatopallidal occurrence of cerebral fibrosarcomas in more calcification. than one family member.2256 familial cutaneous amyloidosis with systemic manifestations A familial calcifying familial cerebromeningeal congenital syndrome manifesting cloudy polioencephalopathy See angiomatosis See Divry–van Bogaert corneas, malabsorption, recurrent infections, striatopallidal calcification. syndrome. hyperkeratosis, patchy skin pigmentation, seizures, and mental and developmental familial capillary-venous delay. See also familial amyloid neuropathy. familial chorea with leptomeningeal angiomatosis acanthocytosis See See Divry–van Bogaert syndrome. neuroacanthocytosis. familial degeneration of the familial carpal tunnel syndrome pallidonigral system A fatal See carpal tunnel syndrome.1447 familial chorea with myoclonic degenerative disorder of early childhood, epilepsy A dominantly inherited manifesting febrile episodes, familial cavernous angioma/ hepatosplenomegaly, anemia, pyramidal syndrome consisting of chorea, ataxia, hemangioma of the retina (Gass myoclonus, seizures, and dementia.6189 See signs, and seizures. Pathological findings include degeneration of the globus pallidus, syndrome) A dominantly inherited myoclonus.
familial hemiplegic migraine
361
subthalamic nucleus, and substantia nigra.4208
familial distal dysautonomia A familial syndrome of autonomic dysfunction affecting the hands and feet as well as vasomotor, pilomotor, and sudomotor function, without other evidence of peripheral somatic neuropathy. The condition may be dominantly inherited.5336
familial dysautonomia See hereditary sensory and autonomic neuropathy type 3 and Riley–Day syndrome.
familial dyskinesia and facial myokymia A dominantly inherited disorder characterized by involuntary chorea-like movements and perioral and periorbital myokymia, with onset in early childhood or adolescence. The movements are paroxysmal initially but increase in frequency and severity and may become constant in the third decade, stabilizing, or even improving thereafter. The adventitious movements are worsened by anxiety but not by voluntary movement, startle, caffeine, or alcohol. The disease is socially disabling, but there is no intellectual impairment or decrease in life span. Its genetic basis is not yet determined.2023
familial dyslexia See dyslexia. The genetic abnormality in this familial form has been localized to the short arm of chromosome 15. familial dystonic choreoathetosis (syndrome of Mount and Reback) See familial paroxysmal dystonic choreoathetosis.
familial encephalopathy and basal ganglion calcification See striatopallidal calcification.
familial epilepsy and yellow teeth A syndrome of severe seizures in infancy, with mental and motor delay, pyramidal signs, and unusually colored teeth.3514
familial episodic ataxia See cerebellar ataxia.
familial erythrophagocytic lymphohistiocytosis (Omenn syndrome) A lethal, recessively inherited,
congenital dysmorphic syndrome manifesting also visceromegaly, anemia, low white blood cell and platelet counts, recurrent infections (including meningitis and encephalitis), seizures, ataxia, pyramidal signs, and neurodegenerative regression. Widespread infiltration with reticulum cells is usually found. Low-density areas due to gliosis and demyelination are seen in the white matter on CT scanning.4793
familial essential benign chorea See hereditary essential chorea and Huntington disease.
familial essential myoclonus A
familial frontotemporal dementia A dementing illness with Parkinsonism, due to mutations in the tau gene on chromosome 17.6907 See frontotemporal dementia.
familial hearing loss, polyneuropathy, and optic atrophy An autosomal or X-linked recessively transmitted syndrome manifesting progressive neural deafness from childhood with polyneuropathy and optic atrophy.2865
familial hemiplegic migraine
(cerebellar migraine) A rare, dominantly inherited or sporadic form of migraine with aura occurring first in youth and characterized by paroxysmal headaches, many with hemiplegia occurring before, during, or after the headache phase and lasting for hours or days. Attacks may be precipitated by head trauma. The attack is usually part of the aura of migraine and lasts familial essential myoclonus less than an hour (migraine with typical and epilepsy See familial adult aura). Typically, there is a visual aura that is myoclonic epilepsy. followed by the onset of slowly progressive unilateral sensory or motor symptoms. familial extrapyramidal disease Fever, dysarthria, aphasia, and reduction in with polyneuropathy A dominantly consciousness are commonly associated inherited syndrome characterized by symptoms, and in one-fifth of the cases there symptoms of Parkinson disease with onset are permanent cerebellar signs. Rarely, in mature adult life characterized by the symptoms can last up to a week (migraine delayed development of an axonal or with pronounced aura).3004 To make the demyelinating sensorimotor peripheral diagnosis, at least one first- or second-degree neuropathy with distal weakness, ataxia, relative must have migraine auras that muscle wasting, and loss of reflexes.965 include motor weakness. In variant forms, postencephalitic The condition is due to missense Parkinsonism is accompanied by amyotrophy. mutations in the CACNA1A gene on chromosome 19p13 (FHM1) in half the cases, and to ATP1A2 (FHM2) and familial focal epilepsy with SCN1A (FHM3) in some others, variable foci A rare dominantly indicating genetic heterogeneity.3252 inherited genetically heterogeneous Various mutations at the same site are syndrome with onset at any time in life before middle age, mapped to chromosome associated with episodic ataxia type 2, with delayed cerebral edema and with 22q11–q12 and possibly to 2q. Clinically, fatal coma after minor head trauma. family members have focal seizures emanating from different cortical locations Diagnostic criteria have been defined: that include temporal, frontal, A. At least two attacks fulfilling criteria B centroparietal, or occipital lobe regions, and C often in sleep. Occasional GTCS occur in a B. Aura consisting of fully reversible motor small majority. Most often the seizures are weakness and at least one of the infrequent, easily controlled, or even following: asymptomatic. 1. Fully reversible visual symptoms Focal epileptiform discharges are seen on including positive features (e.g., the interictal EEG, varying in site for each flickering lights, spots, or lines) and/ affected family member but constant for each or negative features (i.e., loss of individual, and are enhanced by sleep.4882, 1861 vision) dominantly inherited syndrome of stimulusand movement-sensitive myoclonic jerks associated with rhythmic discharges alternating with asynchronous, dysrhythmic complexes on the EEG, alleviated by alcohol consumption, and sometimes associated also with essential tremor.3538
familial holotopistic striatal necrosis 2. Fully reversible sensory symptoms including positive features (i.e., pins and needles) and/or negative features (i.e., numbness) 3. Fully reversible dysphasic speech disturbance C. At least two of the following: 1. At least one aura symptom develops gradually over 5 min and/or different aura symptoms occur in succession over 5 min 2. Each aura symptom lasts 5 min and 3 months, which is interrupted
headache associated with sexual activity
445
Carbon monoxide–induced headache (warehouse workers’ headache) Bilateral and/or continuous headaches occurring within 12 h of carbon monoxide intoxication, resolving within 72 h after The ICHD criteria2820 for headache its elimination. attributed to withdrawal from chronic use of other Cocaine-induced headache ICHD criteria2820 substances are almost the same. are Estrogen-withdrawal headache C. Headache develops within 24 h after last opioid intake D. Headache resolves within 7 days after total opioid withdrawal
A. Headache or migraine fulfilling criteria C and D B. Daily use of exogenous estrogen for 3 weeks, which is interrupted C. Headache or migraine develops within 5 days after last use of estrogen D. Headache or migraine resolves within 3 days From the ICHD (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society, and Wiley-Blackwell Publications.
A. Headache, no typical characteristics known, fulfilling criteria C and D B. An appropriate agent or toxin has been administered or ingested and an acute rise in blood pressure has occurred C. Headache develops in close temporal relation to the acute rise in blood pressure D. Headache resolves within 24 h after normalization of blood pressure E. No other mechanism for the headache From the ICHD [Headache Classification
Withdrawal from ergot is another variety. Committee of the International Headache Society.
headache attributed to traumatic intracranial hematoma See headache attributed to
Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society, and Wiley-Blackwell Publications.
Cannabis-induced Bilateral stabbing or pulsating feelings of pressure in the head following the use of cannabis within 12 h, headache attributed to resolving within 72 h. unruptured vascular Delayed NO donor–induced headache malformation See headache attributed A variant of the foregoing, in which to cranial or cervical vascular disorder. people who suffer from primary headaches experience their typical headache after absorption of a NO donor but headache induced by acute only after the NO is cleared from the substance use or exposure blood; it resolves within 72 h of a single 2820 The ICHD defines a number of exposure. headache types in association with exposure to Dietary headache (headache induced by food various agents. Representative types are components and additives) Bilateral, Nitric oxide (NO) donor-induced headache frontotemporal, pulsating headaches (immediate) (nitroglycerine headache, aggravated by physical activity, dynamite headache, hot dog headache) developing within 12 h and resolving Diagnostic criteria have been defined as within 72 h after ingestion of a minimum follows: dose of phenylethylamine, tyramine, or A. Headache with at least one of the aspartame. following characteristics and fulfilling Histamine-induced headache The two forms criteria C and D: defined by the ICHD2820 are immediate headache in nonheadache sufferers and 1. Bilateral immediate and/or delayed headaches 2. Frontotemporal location in migraine sufferers. The immediate 3. Pulsating quality 4. Aggravated by physical activity histamine-induced headache is bilateral, frontotemporal, pulsating, and aggravated B. Absorption of a NO donor C. Headache develops within 10 min after by physical activity; it develops within 10 min after absorption of histamine and absorption of NO donor resolves within 1 h The delayed histamineD. Headache resolves within 1 h after induced headache fulfils criteria for migraine release of NO has ended head and/or neck trauma.
without aura in people who suffer from primary headaches. Immediate calcitonin gene-related peptide (CGRP)–induced headache This variant has at least one of the following characteristics: bilateral, frontotemporal, pulsating, and aggravated by physical activity, developing within 10 min after absorption of CGRP and resolving within 1 h after absorption of CGRP has ceased. The delayed CGRP-induced headaches occur in people who suffer from primary headaches after the CGRP is cleared from the blood and resolving within 72 h. Migraineurs experience an attack of migraine without aura, tension-type headache sufferers develop tension-type headaches, both typically after 5–6 h, and those with cluster headache develop a cluster headache attack typically after 1–2 h. Monosodium glutamate-induced headache Bilateral, frontotemporal headaches, aggravated by physical activity following ingestion of monosodium glutamate (MSG) within 1 h and resolving within 72 h. See also Chinese restaurant syndrome. Headache as an acute adverse event attributed to medication used for other indications Headache may occur after ingestion of atropine, digitalis, disulfiram, hydralazine, imipramine, nicotine, nifedipine, or nimodipine. Most of these headaches are dull, continuous, diffuse, and moderate to severe. Phosphodiesterase (PDE) inhibitor–induced headache Bilateral, frontotemporal, pulsating headaches, aggravated by physical activity, occurring within 5 h after a single dose of a phosphodiesterase inhibitor and resolving within 72 h.
headache induced by food components and additives See dietary headache and monosodium glutamate– induced headache above.
headache associated with sexual activity (benign sex headache, coital cephalalgia) Headache precipitated by masturbation or coitus, usually starting as a dull bilateral ache while sexual excitement increases and suddenly becoming intense at orgasm, in the absence of any intracranial disorder. Dull, explosive, and postural types are defined. See also thunderclap headache.
headache associated with substances but with uncertain mechanism
headache associated with substances but with uncertain mechanism This category would include headache in association with ingestion of estrogens and other substances.
Headache Disability Inventory A validated 25-item scale assessing the effects of daily living in terms of disability suffered by people with recurrent headaches.3136 See also MIDAS and Headache Impact Test.
Headache Impact Test A validated tool assessing the burden of disability suffered by people with migraine, either in a six-question paper-based form or by accessing it on the Internet. Web site: http://www.headachetest.com/. See also Headache Disability Inventory and MIDAS.
headache scale A list of 30 adjectives (pulling, tight, tiring, dull, splitting, sharp, stabbing, throbbing, etc.) used to describe pain by headache sufferers.3149 Based upon such a list, clusters of headache descriptions have been defined, but different analyses have identified 2, 5, or 7 clusters, and the purpose of the scale appears to assist in the qualitative determination of the characteristics of head pains rather than in diagnosis or management.
headache with neurologic deficits and CSF lymphocytosis (HaNDL, migraine with cerebrospinal pleocytosis; pseudomigraine with lymphocytic pleocytosis) A benign and transient syndrome with these added manifestations. Characteristic features include the presence of severe headaches resembling migraine with aura, neurological deficits lasting for less than 3 days on each occasion, CSF lymphocytosis of 16–350 cells/mm3, and limitation of the condition to less than 3 months. Additional features include a modest rise in CSF protein and pressure, transient focal nonepileptiform EEG changes, and sometimes a viral prodrome or fever.550 Mollaret cells are absent from the CSF but the condition does otherwise resemble Mollaret meningitis. Conventional cerebral angiography can provoke a similar condition. (HJM) Diagnostic criteria have been defined2820
A. Episodes of moderate or severe headache lasting hours before resolving fully and fulfilling criteria C and D B. Cerebrospinal fluid pleocytosis with lymphocytic predominance (>15 cells/ ml) and normal neuroimaging, CSF culture, and other tests for etiology C. Episodes of headache are accompanied by or shortly follow transient neurological deficits and commence in close temporal relation to the development of CSF pleocytosis D. Episodes of headache and neurological deficits recur for over 3 months.
446
2.
3.
4.
From the ICHD (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society, and Wiley-Blackwell Publications.
Head–Holmes syndrome The sensory deficits resulting from cortical lesions.2816 The utility of retaining this eponymous syndrome may now be expended, but the original paper is a treasure.
headphone neuralgia A syndrome resembling glossopharyngeal neuralgia, thought to be caused by compression of the aural branches on that nerve by the hard earpieces of, for example, personal entertainment devices, stethoscopes, or hearing aids, or by idiopathic craniofacial polyneuritis.5885
5.
greater degree and to a wider extent than those which are simpler or more inevitable in their expression.’’ ‘‘The negative manifestations of a lesion appear in terms of the affected level.’’ (Thus, lesions of the speech area produce disturbances of speech.) ‘‘A negative lesion produces positive effects by releasing activities normally held under control by the functions of the affected level.’’ The mass reflex and thalamic pain are examples given. ‘‘The functions of the nervous system have been slowly evolved by a continuous process of development. The methods by which this gradual process from lower to higher efficiency have been reached are still manifest in the phenomena of its normal activity . . . [thus] what at lower levels appeared a variable response became with the progress of evolution, voluntary control.’’ ‘‘Integration of function within the nervous system is based on a struggle for expression between many potentially different physiological activities.’’ (Thus, a warm stimulus may be perceived as warm, cold, or painful according to its position on the skin and the state of the receptors.)2813
Head’s zones See Head’s areas. head-shaking nystagmus
A provoked horizontal jerk nystagmus appearing for at least 5 s after vigorous head Head–Riddoch syndrome shaking about the vertical axis for 15 s, (autonomic hyperreflexia syndrome) suggesting the presence of a brainstem lesion Sweating, flushing, pilomotor erection, nasal or of dynamic vestibular imbalance. See also stuffiness, blurred vision, headache, and vestibular nystagmus. occasionally generalized seizures occurring as a result of excessive autonomic activity head-thrust response A baby is held following extrinsic or intrinsic stimulation in the sitting position with the body leaning of quadriplegic patients below the level of slightly forward. When a hand placed their high spinal lesions.2817 against the back of the head thrusts the head
Head’s areas (Head’s zones) The dermatomes, precisely delineated by Head as his graduation thesis at Cambridge and published in Brain in 1893.2810 The term has also been applied to the areas of hyperalgesia occurring in association with disease of the underlying viscera, but in effect these are also the dermatomes.
Head’s principles
forward, the normal infant opposes the movement.6898
head-tilt test See Bielschowsky Test. head-turning sign The action of patients with dementing diseases, who repeatedly turn to ask their spouse the answers to questions put by the examiner (Dr. Re´mi Bouchard, personal communication).
1. ‘‘When any level of activity is attacked, health 1. The ability of all parts of the the most complex functions, and those that have appeared most recently, are the body to perform their respective functions first to suffer; they are also disturbed to a without giving rise to awareness of
Heide syndrome
447
research laboratory for neuropsychological studies at the Institut National de la Sante´. Hecaen’s important clinical research on brain–behavior relationships complemented his political organization of the discipline, The Healthy Brain Project A through the founding of the journal program designed to increase awareness of Hebb, Donald (1904–1985) PreNeuropsychologia (of which he was the the brain and its importance in the overall eminent Canadian psychologist at McGill health and longevity of the human being. University. He is remembered in particular founding editor-in-chief) and indirectly of the International Neuropsychological for his postulate, building on the work of Society. His best-known studies were of William James, that when the axon of a Heart and Stroke Foundation of apractagnosia, aphasia, visual agnosia, and neuron is close enough to excite a particular Canada A charitable organization. Web 105 cell and does so repeatedly, the threshold for cerebral lateralization. site: http://ww2.heartandstroke.ca/splash/. further such excitations is reduced. Thus synapses are modified by pre- and heel-(knee)-shin test A test of heat hematoma An artifactual coordination wherein the subject is required extradural hematoma subjacent to a fissure postsynaptic activity. to run one heel smoothly down the other fracture of the skull, found in some victims hebephrenia (from Gr, puberty þ the shin. Miller Fisher2080 suggested a of death in extreme heat.6 mind) A variety of schizophrenia, occurring modification (shin-tapping) whereby the mainly in young people and unaccompanied subject also taps the heel repetitively on the heat stroke (coup de la chaleur) shin before continuing to slide it down by major paranoid ideation. The affect is Hyperpyrexia following exposure to changeable and ‘‘silly’’; the thought disorder toward the foot. unusually high temperatures and associated with coma, delirium, agitation, and rigidity and hallucinations exuberant. with pupillary constriction, complex heel reflex Plantar flexion or spreading Heberden, William (1710–1801) automatisms, and raised serum creatine out of the toes in response to a tap in the heel, kinase values. The mortality rate is 40% but, English physician and classical scholar who seen in patients with pyramidal lesions. In in those who survive, a syndrome of akinetic trained at Cambridge and practiced in babies, this normally leads to extension of London. His clinical skills and his writings the leg.6898 mutism, anarthria, subcortical dementia on rheumatism, angina, and varicella placed cerebellar signs, sensorimotor axonopathy, him in the forefront of the profession, and he and severe wasting signs are the usual heel-to-ear maneuver A test was elected to fellowship both of the Royal sequelae. forming part of the battery used in College of Physicians and of the Royal gestational assessment. The heel of the heat-flow disk A method of assessing Society. He also described night blindness supine baby is gently drawn up toward its changes in skin blood flow by measuring the (nyctalopia). head, and the distance between them is His son, William Heberden, Jr., rate of heat loss from a disk placed on the measured. Normally the foot will get as far as 1776 published in 1804 a book on pediatrics said skin. the chest but any further flexion is a sign of ‘‘to have been of such superlative excellence immaturity or hypotonia.1727, 1728 that it might well be attributed to the heautognosis (Gr, ‘‘of oneself’’ þ father’’—which must be the most knowledge) Self-knowledge. Heerfordt syndrome (uveoparotid backhanded compliment that any medical fever) Bilateral facial paralysis (and author has received. heautoscopy A multimodal occasional pareses of the V, VIII, and bulbar reduplicative hallucination of one’s own cranial nerves) with bilateral uveitis, fever, Hebetude (from Lat, to make blunt) person; a combination of autoscopy and an and parotid enlargement occurring as a Dullness of intellect as with a slight out-of-body experience, resulting in the manifestation of sarcoidosis.2832 Both optic reduction in conscious level. perception of a doppelga¨nger; a primary and peripheral neuropathies have also been somesthetic illusion of being separated from, reported. Hebold syndrome See and outside, one’s own body. It is most C.F. Heerfordt (b. 1871), a Danish encephalotrigeminal angiomatosis. commonly a manifestation of complex ophthalmologist, described the syndrome in partial seizures arising from parietal or deep 1909. temporal foci.910 It may also be an occasional Hecaen, Henri (1912–1983) French experience of normal children. neurologist, psychiatrist, neuropsychologist, Heidenhain, Adolf (b. 1893) German and a founding father of behavioral neuropsychiatrist and pathologist. neurology and neuropsychology. His heaviness Not itself a primary sensory mode, but rather the sense of the movement medical training was at the University of required to lift a mass, or the discrimination Bordeaux, and he later studied with Jean Heide syndrome A congenital Lhermitte and Henri Ey before joining the dysmorphic syndrome manifesting also of relative pressures (depending upon whether or not the limb is allowed to move). French Centre National de la Re´cherche macrocephaly, frontal bossing, osteoporosis, Medicale. He was in turn director of the Gordon Holmes stated that ‘‘Every paretic acral defects, optic atrophy with blindness, language pathology laboratory and of the limb exaggerates the load it carries, if and mental and developmental delay.381 incapacity or discomfort. 2. The absence of disease. 3. A state of mental, physical, and emotional well-being.
sensation be normal’’—that is, objects feel heavy when lifted by paretic muscles, a ‘‘sense of effort’’ being used to estimate the weight of a lifted object.2270
Heidenhain disease
Heidenhain disease An insidiously progressive spongy degeneration of the adult cortex with neuronal loss and gliosis, leading to severe dementia, cortical blindness, rigidity, athetosis, ataxia, dysarthria, cerebellar signs, and myoclonus and causing death within months of the onset of the illness.2837, 4340 Heidenhain noted that the condition strongly resembles Creutzfeldt–Jakob disease but that the latter manifests a slower course with more pyramidal and extrapyramidal features; his patients showed mainly involvement of the occipital lobes, the frontal lobes being relatively spared. See Creutzfeldt–Jakob disease.
448
heliotrope rash The mauve discoloration of the eyelids in some patients with dermatomyositis. A memorable term, but not as memorable as the alternative Victorian phrase ‘‘violaceous hue,’’ which for some reason (certainly not accuracy) has been retained in this context where neither word is normally used by any of us from year to year in any other. helix (Gr, a spiral) The outer border of the pinna, the external ear.
Heller, Theodor (1869–1938)
Helmholtz, Hermann Ludwig Ferdinand von (1821–1894) German physicist and physiologist, professor of anatomy and physiology variously at Konigsberg, Bonn, Heidelberg, and Berlin. Of interest to neurologists were his studies on the speed of neural transmission (1850), his pioneering books on optics and acoustics,3373 and his invention of the ophthalmoscope in 1851.2851 The English mathematician Charles Babbage had produced a similar instrument 4 years previously but published no report of it until 1854. He put forward the resonance theory of hearing, stating (in 1862) that vibrations in the stapes are transmitted to the perilymph and thus to the basilar membrane, each basilar fiber responding at its own particular frequency.
Austrian psychiatrist. Born in Vienna into a family with a tradition of service to the blind, he also began training appropriate for height vertigo A visually induced that task, diverting to the study of the physiological syndrome of subjective problems affecting all handicapped children. instability in postural balance and locomotion, His life was largely spent in training the coupled with a fear of falling and with mentally handicapped, but he also wrote on a vegetative symptoms, which occurs when the wider field of child psychiatry. Helweg-Larsen disease A distance between the observer and visible dominantly inherited hereditary 819 stationary objects becomes critically large. Heller disease (dementia infantilis, cochleovestibular atrophy manifesting It often appears to be enhanced with age. childhood schizophrenia, Heller–Zappert progressive hearing loss from early adult life syndrome) A disease of unknown cause in and anhidrosis as a result of the Heilbronner sign Flattening of the which, after normal infancy, behavioral nondevelopment of sweat glands.2852 thigh on the side of a pyramidal lesion. disturbances with overactivity, tics, immature behavior, and stereotypic movements lead on to progressive dementia hem- Greek prefix indicating blood. Heimann–Bielschowsky with eventual speech regression and mutism, phenomenon Instability of gaze in a blind eye, with uni- or bidirectional drifting withdrawn helplessness (‘‘separated from his hemangiectatic hypertrophy See surroundings by a glass wall’’), and or nystagmus occurring in that eye during Klippel–Trenauny–Weber syndrome. incontinence in the second or third year of fixation of an object by the other eye.5921 life, despite a lack of focal neurological hemangioblastoma A benign, findings. No pathology was described by Heine, Jacob von (1800–1879) 2845 circumscribed, cystic tumor of blood vessels Heller in his major paper, nor in his brief German physician, who trained at usually occurring in adults and arising in the report in 1909. Wurzburg and, as a result of family cerebellum or spinal cord from unknown cell It is uncertain that this is a single connections, was asked to set up an 6952 origins. condition. Julius Zappert described orthopedic institute near Stuttgart. He Histologically, it is characterized by cells further cases of dementia infantilis and published his report on poliomyelitis with uniform nuclei and foamy cytoplasm proposed the eponym now used. The (infantile paralysis) in 1840,2844 noticing almost all the clinical features of the disease, condition is probably akin to, if not identical containing lipid, surrounded by a fine reticulin network and many thin-walled to, infantile autism,2845 but it is also localizing the pathology correctly to the blood vessels. Some produce erythropoietin, possible that the cause is a subacute anterior horn cells, demonstrating its leading to polycythemia. In the cerebellum, encephalitis. epidemic nature, showing that a single the tumors eventually cause signs of infectious agent could produce different posterior fossa compression and obstructive syndromes in different people, and dealing at Heller–Zappert syndrome See hydrocephalus.3182 length with methods of management and Heller disease. The tumors are familial in von Hippel– rehabilitation. Lindau disease, in which condition the gene HELLP syndrome A complication of maps to the short arm of chromosome 3. Heine–Medin disease See pre-eclampsia manifesting severe edema and poliomyelitis. Oskar Medin (1874–1928) proteinuria, upper abdominal pain, and a studied the epidemic form of the disease. reduced thrombocyte count but not always hemangioma calcificans Slowly with a marked rise in blood pressure.2773 growing calcified hemangiomas usually found within one temporal lobe close to the helicopodia (Gr, circling þ leg) fissure of Sylvius and frequently associated Circumduction of the leg during walking, as Hellsing syndrome See hereditary with complex partial seizures. is seen in hemiparetic patients. facial spasm.
hemiatrophy
449
modalities of pain and temperature. An defect), the lesion involving the visual increased prevalence of neural tube defects in cortex. Migrainous visual hallucinations are the family is notable.4720 Mental retardation an example.2101, 3520 and seizures are further complications.5316 hemangiomas Vascular tumors of bone hemianopsia See hemianopia. that may occur in the spinal column, leading hemiachromatopsia Loss of color to compression of the spinal cord. See also vision in one half-field, all colors appearing hemiasomatognosia cavernous angioma. as gray, while perception of white objects is See Anton–Babinski syndrome. unaffected. hemangiopericytic hemiataxia See hemiataxy. meningioma (hemangiopericytoma) A hemiagnosia for pain A rare rare, primary, potentially malignant tumor manifestation of a right hemisphere lesion hemiataxia–hypesthesia An described by Pierre Marie. Although the of the nervous system with histological unusual, lateral thalamic stroke syndrome patient is hyperpathic on the left, he is similarities to angioblastic meningiomas. due to infarction in the territory of the unable to localize the source and to define the thalamogeniculate artery, characterized See also meningioma. nature of the severe discomfort. clinically by isolated hemiataxia and hemangiopericytoma See ipsilateral sensory loss involving any hemiakinesia See inattention. hemangiopericytic meningioma. modalities.4298 Tuberculomas, hemangiomas, and hematomas are other calcified lesions found in this region.4978
hematoencephalon Intracranial bleeding.
hematoma A mass of blood; a blood
hemianhidrosis (from Gr, half þ derivative þ sweating) Lack of sweating on one side of the body, usually due to a lesion of the sympathetic fibers within the CNS.
clot.
hemiataxy (hemiataxia) Unilateral motor incoordination.
hemiathetosis Athetosis occurring on one side of the body only.
hemianopia (hemiopia, hemianopsia) hematomyelia Hemorrhage into the spinal cord, with a tendency to spread longitudinally over several segments, particularly within the gray matter, and usually due to trauma or (when spontaneous) rupture of an occult arteriovenous malformation. The name was first applied by Ollivier d’Angers in 1827.
hematorrachis Hemorrhage into the spinal canal.
hematosidosis (anabolic GM3 gangliosidosis) A polioencephalopathy. See also GM3 gangliosidosis.
hemeralopia (Gr, day þ obscure þ vision) Impaired vision in bright illumination.
hemi- (Gr, half) The Latin equivalent word is semi-, the French word, demi-.
hemi-3 syndrome (hemihypertrophy, hemiparesthesias, hemiareflexia) A sporadic developmental syndrome consisting of hemihypertrophy, hemihypesthesia, hemiareflexia, and progressive scoliosis, perhaps due to a defect of the dorsal lip of the neural tube or neural crest. The hemihypertrophy may be quadrantic and it spares the face; the muscles are large and strong. The hypesthesia affects the
Loss of vision in one half of the field of each eye. Such a loss is usually to one or the other side. The various types of hemianopia are listed in Chart H–6. See also congruence.
hemiatrophia cerebri Severe acquired atrophy of one cerebral hemisphere in children, following an initial acute insult and associated partial seizures. See also HHE syndrome.6200
hemianopic color blindness
hemiatrophy Unilateral shrinkage of a Residual color blindness (shown by inability body part due to various degrees of to match colors) in a field which was involvement of skin, subcutaneous tissue, formerly hemianopic. fat, and/or bone. Though classically the sequel to infantile cortical lesions, it is also described in association with acquired hemianopic hallucinations Pure neurological diseases and it also occurs visual hallucinations within a hemianopic half-field (or in the area of a lesser visual field idiopathically.5407 Chart H–6. Types of Hemianopia Homonymous hemianopia The deficits are of the corresponding fields, right or left, in each of the two eyes. Bitemporal hemianopia The loss is in the right half-field in the right eye and in the left half-field in the left eye. It is characteristically associated with a mid-line lesion compressing the optic chiasm. Altitudinal hemianopia The visual field defect may also be of the upper or the lower half if the deficit is demarcated by the equator. Sectoral hemianopia A homonymous altitudinal field defect with a linear horizontal edge, produced by lesions of the nonstriatal visual pathways.3002 Binasal or bitemporal hemianopias The nasal or the temporal fields are lost, respectively, in each eye. Because the field defect is a mirror image in the two eyes, such forms of hemianopia may be known as heteronymous hemianopias. Complicated hemianopias The hemianopia is complicated by the presence of an oculomotor palsy. Quadrantic hemianopia The condition in which the deficit is of one quarter of the field only; it may be bitemporal or binasal, and above or below the visual equator. Functional hemianopia Hemianopia in the absence of organic disease of the visual pathways. This form has been reviewed by Gittinger.2396
hemiballism(us)
hemiballism(us) (half and Gr, jumping) (hemichorea) An uncommon hyperkinetic disorder characterized by sudden, violent, persistent, unilateral, proximal flinging movements of an arm or leg due to a lesion (usually a lacunar infarct) involving the contralateral subthalamic nucleus of Luys.2110 The term was first applied by Economo. See ballism. In a variant form, the condition is inherited as a recessive trait.
450 Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society, and Wiley-Blackwell Publications.
hemidystonia Involuntary sustained
posturing of the arm, leg, and face of one side. In most cases, the responsible lesion is situated in the contralateral putamen, caudate, or thalamus, disconnecting the hemicrania continua A rare, benign, thalamus from the striatum. The unilateral headache of continuous type and corticospinal pathways are essentially moderate severity, for which no precipitants preserved. The possible etiologies are are identified and which is absolutely many.5006, 4104 responsive to indomethacin. It is more common in females. The pain may or may hemidystonia–hemiatrophy not pulsate but tends to fluctuate in syndrome A syndrome of adolescence in intensity, with severe exacerbations hemibasal syndrome See Garcin which unilateral bodily and cerebral (stabbing headaches) sometimes syndrome. hemiatrophy due to perinatal complications superimposed on background pain of or stroke are, after some years, complicated moderate severity felt mainly in frontal, hemibulbar syndrome See by hemidystonia. The condition may be a temporal, and orbital regions. The side on Babinski–Nageotte syndrome. static encephalopathy.6774 which it is felt seldom changes between attacks. Cycles persist over weeks to hemichorea See hemiballism(us). hemifacial atrophy See years.4644 There are few accompanying Parry–Romberg syndrome. hemiclonic seizures Forms of seizure autonomic signs compared to those occurring in chronic paroxysmal with little localizing value, occurring early hemicrania, which this headache otherwise hemifacial microsomia (first arch in development, before myelination of the syndrome, mandibular dysostosis) resembles,747, 5882, 4643 but ipsilateral corpus callosum. They can affect both A congenital anomaly of unknown cause, lacrimation, ptosis, rhinorrhea, and nasal hemispheres alternately, as in Dravet manifesting unilateral hypoplasia of the congestion and conjunctival injection are syndrome and ischemic encephalopathy, or facial soft tissues and underlying bones, with occasional accompaniments. only one hemisphere in the case of focal Diagnostic criteria suggested by Goadsby failure of formation of the mandibular ramus 1861 disturbances. and condyle and ipsilateral microtia.2503 The and Lipton2415 and by Pareja et al.4893 are extant, but the ICHD criteria are reproduced condition may be a variant of hemiconvulsions, hemiplegia, oculoauriculovertebral dysplasia. See also here: epilepsy syndrome See HHE Goldenhar syndrome. A. Headache for >3 months fulfilling syndrome.
hemicrania (Gr, half þ the head)
criteria B–D B. All of the following characteristics:
hemifacial spasm (Brissaud–Meige
syndrome) An acquired, progressive syndrome characterized by frequent, repetitive, unilateral, involuntary tonic, or tonic–clonic spasm of the facial muscles due to compression of the VII cranial nerve at the root exit zone. Aberrant vessels have been C. At least one of the following autonomic identified on contrast-enhanced CT scans features occurs during exacerbations and hemicrania alternans See (Digre et al. 1988), MRI, and modified ipsilateral to the side of pain: hemicrania. magnetic resonance angiography studies in 1. Conjunctival injection and/or 80%–100% of cases. lacrimation hemicrania epileptica Headache There are two forms. In the first, brief 2. Nasal congestion and/or rhinorrhea occurring in association with partial seizures. twitches occur simultaneously in several 3. Ptosis and/or miosis Diagnostic criteria have been defined facial muscles, often with blinking and D. Complete response to therapeutic doses accompanied by isolated bursts of 20–40 A. Headache lasting seconds to minutes, of indomethacin repetitive motor unit discharges on the EMG with features of migraine, fulfilling E. Not attributed to another disorder at up to 400 Hz and lasting for about 0.5 s. criteria C and D below In the second form, prolonged spasms occur B. The patient has had a ‘partial’ epileptic From the ICHD (Headache Classification seizure erratically with electrical discharges at a Committee of the International Headache Society. C. Headache develops synchronously with slower rate.2922 Cephalalgia 2004;24[Suppl 1]) by kind the seizure and is ipsilateral to the ictal permission of Dr. Jes Olesen, the International The syndrome is likely to be caused by discharge Headache Society, and Wiley-Blackwell ephaptic transmission after nerve injury and D. Headache resolves immediately after the Publications. the appearance of a new trigger in the nerve seizure trunk which would give rise to a locally generated electrical discharge. The abnormal hemicranianosis See Brissaud– From the ICHD (Headache Classification activity is generated at the exit zone, Lereboullet syndrome. Committee of the International Headache Society.
(megrim) Headache affecting one side only; classic migraine. Hemicrania alternans affects the two sides alternately; angioparalytic (or neuroparalytic) hemicrania is complicated or hemiplegic migraine.
1. Unilateral pain without side-shift 2. Daily and continuous, without pain-free periods 3. Moderate intensity, but with exacerbations of severe pain
hemiplegic atrophy
451
probably at the facial nucleus. Aberrant afferent activity generated at the site of vascular compression causes reorganization of the facial nucleus by a mechanism similar to the ‘‘kindling’’ phenomenon. Some consider the basis to be a form of segmental myoclonus, while others believe that impingement of local dilated or redundant arteries upon the facial nerve exit zone is responsible, which has led to the institution of surgical procedures designed to achieve separation. Though criticized as simplistic, the theory of electrical crosstalk or chatter between artery and nerve has electrical validity,2776 and the procedure, though potentially hazardous, has at least the merit of cure in numerous instances.3164 The theory of vascular compression of the nerve is not new; it was propounded also by Brissaud in 1895. In a variant form, autosomal dominant inheritance has been reported.6066
diffuse gliosis, and high-output cardiac failure in infants. The affected hemisphere is enlarged and may show agyria or pachygyria.400, 4965 Hemimicrencephaly may be present on the other side. A variant is hemimeganencephaly (posterior quadrantic dysplasia) A sporadic developmental malformation affecting the temporal, parietal, and occipital lobes of one hemisphere and a cause of mental retardation, infantile spasms, mild hemiparesis, visual deficits, and intractable partial seizures.1402
Hemimegalencephaly Support Group A group of parents and friends of children with hemimegalencephaly who provide contacts and information.
uptake in the contralateral hemisphere. Treatment of the seizures clears both the paralysis and the abnormal brain scan. The episodes represent an ictal rather than postictal event and are neither migrainous nor due to demonstrable focal pathology.2735 See also Todd paralysis.2735
hemi-Parkinsonism-(somatic) hemiatrophy syndrome The association of early life hemispheric injury with contralateral focal hemiatrophy and pyramidal signs, with the development on that side of slowly progressive Parkinsonism unresponsive to levadopa and the early appearance of dystonias, each appearing before the ingestion of medications.3471 The condition is a rare form of secondary Parkinsonism.6774
hemiopia (Gr, half þ the eye) Half of the (normal) visual field. The term is, however, hemiplegia (Gr, half þ striking) Severe often used erroneously in place of weakness, as due to a stroke, affecting any hemianopia. part of the upper motor neuron pathway, on hemifield slide Diplopia with deviation one side of the body. of images either horizontally or vertically as hemiparalexia An unusual dyslexic In alternating or crossed hemiplegia, the an effect of bitemporal hemianopia, which syndrome due to lesions in the left posterior weakness affects the ocular movements or prevents binocular fixation and suppression callosum and characterized clinically by face on one side and the trunk and limbs on of the false image which is necessary in the substitutions of left-sided (initial, the other. See also Weber syndrome, presence of slight imbalance of motor input beginning-of-word) letter substitutions Millard–Gubler syndrome, Foville to the eyes.3453 641 during the oral reading of words. syndrome, and Jackson syndrome. hemihypertrophy– hemiparesis (Gr, half þ want of hemianesthesia–hemiareflexia– strength) Weakness of one side of the body. hemiplegia alternans superior scoliosis See hemi-3 syndrome. peduncularis See Weber syndrome. The term is used interchangeably with hemiplegia.
hemihypertrophy-nevihamartoma See Proteus syndrome.
hemiplegia cruciata (crossed hemiplegia, syndrome of the decussation) Congenitally derived hemiparesis, appearing Corticospinal tract damage leading to a in two main forms: arm-dominant, which is pyramidal syndrome affecting the arm on the hemimasticatory spasm A rare associated with relatively large cortical or facial movement disorder (a form of same side and the leg on the other. The lesion subcortical lesions and clinically with segmental myoclonus) characterized by must be at the cervicomedullary junction on epilepsy and cognitive deficits; and isolated, involuntary, unilateral, painful the side of the arm weakness, at which site leg-dominant, in which the lesions are of the the fibers destined to cross to the contractions of the masticatory muscles (masseter, temporalis, and pterygoid) which subcortical white matter and which are less corticospinal tract on the other side of the often associated with these problems.3044 tend to hypertrophy. cord have not yet crossed (unlike those This paroxysmal cranial neuropathy is destined for the arm, which have). considered to be due to irritation leading to hemiparetic seizures (focal ectopic activity in the proximal trigeminal inhibitory seizures, local or unilateral atonic hemiplegic amyotrophy motor nerve root, perhaps by vascular seizures, status hemiparalyticus, and partial (hemiplegic atrophy) Wasting of muscles in structures; the EMG findings are similar to seizures with subsequent 6304 a limb affected by an upper motor neuron those observed in hemifacial spasm. hemigeneralization) Epileptic equivalents in lesion. Such wasting is considered due to a which unilateral paresis is accompanied by combination of disuse, trans-synaptic hemimegalencephaly A congenital paroxysmal epileptiform discharges. degeneration, and loss of central trophic This uncommon form of focal seizures is dysmorphic syndrome manifesting also influences upon the lower motor neuron.1160 due to discharges arising from the macrocrania, hemipareses, hemianopia, refractory grand mal and myoclonic seizures contralateral hemisphere without in the neonatal period, infantile spasms with disturbance of consciousness, as shown by hemiplegic atrophy See hemiplegic EEG abnormalities and radionucleotide hypsarrhythmia, nystagmus, heterotopias, amyotrophy. hemiparetic cerebral palsy
hemiplegic epilepsy
hemiplegic epilepsy The term of Hughlings-Jackson for partial seizures.
452
himself, are ignored to a greater or lesser extent.4917
hemophilic encephalopathy A diffuse encephalopathy.1789
hemiplegic gait Characteristically, that hemisphere (Gr, half þ a ball or sphere) Hemophilus influenzae gait requiring an exaggeration of the upward Half a sphere—thus the cerebral and meningitis A dangerous form of pelvic tilt with rolling circumduction of the affected leg during the phase of weightbearing on the opposite leg, in order to compensate for the lengthening effect of the paretic leg’s posture. This is held extended at the hip and knee, the ankle being plantar flexed. The adducted, pronated, and flexed posture of the arm is a further diagnostic clue.
hemiplegic migraine See familial hemiplegic migraine.
cerebellar hemispheres so named due to their meningitis most commonly affecting shape. children less than 5 years old and immunocompromised adults. hemispherectomy Surgical removal hemorrhagic leukoencephalitis of most or all of one cerebral hemisphere, See acute disseminated encephalomyelitis. rarely performed but of value in children with intractable epilepsy.48 Hennebert, Richard (1868–1962) hemispheric epilepsy A syndrome of German neurologist who gave early accounts of metachromatic leukodystrophy and the childhood or adolescence manifesting an hard palate reflex. intractable seizure disorder (tonic–clonic,
myoclonic, tonic, atonic, or absencelike) with generalized ictal features that are focal hemipontine syndrome in most cases; without demonstrable Hemorrhage into the lateral part of the pons; etiology or related structural abnormality of it is an unusual occurrence, most the CNS. Diffuse unilateral spike-waves are hemorrhages being central and bilateral. The seen on EEG consistently appearing over the major signs include alternating hemiparesis same hemisphere. The etiology is seldom and thermoanalgesia, as well as skew determined.689 deviation of the eyes. Consciousness is preserved and many patients make Hemispheric Stroke Scale An reasonable functional recoveries. See also instrument for assessing and quantitating dorsal tegmental syndrome. deficits following ischemic stroke, under the headings level of consciousness (derived from hemi-seesaw nystagmus A rare the Glasgow Coma Scale); language; other variant of seesaw nystagmus in which one cortical functions and cranial nerves; motor half-cycle of seesaw nystagmus alternates 53 with a quick phase in the other direction.2701 examination and gait; and sensory function. See also stroke scales.
hemisensory syndrome 1. A lacunar syndrome (see pure sensory stroke). hemivertebra A congenital anomaly characterized by the failure of normal 2. See left sided syndrome. development of one half-side of a vertebra. hemisomatic spasms A syndrome of While the condition may be symptomless, some degree of scoliosis is the usual result. unilateral spasms affecting the face and ipsilateral arm, resulting from a lesion at the ipsilateral cerebellopontine angle.86 Only the extension of movements to the arm differentiates this condition from hemifacial spasm.
hemispasm A dystonic or convulsive movement affecting one side of the body only.
hemodilution A technique for lowering the hematocrit, usually by about 30%, in order to increase cerebral blood flow and maximize tissue oxygenation, as following stroke. Methods may either increase blood volume (hypervolemic) or, by bloodletting at the same time as cell-free fluids are administered, allow it to remain normal (isovolemic). The method is of unproven value in the treatment of stroke.
Hennebert sign 1. Induction of vertigo and nystagmus in subjects with a fistula of a semicircular canal by the examiner’s fingertip pressure over the patient’s external auditory meatus.28612. See hard palate reflex. Hennebert syndrome (luetic-otiticnystagmus syndrome) The occurrence of nystagmus and vertigo with alterations of pressure within the external auditory meatus; a feature of congenital syphilis, often accompanied by interstitial keratitis and chorioretinitis.2860 The phenomenon was described by Camille Hennebert (1867– 1962), a Belgian otologist. Increased vertigo and/or nystagmus also occur when the pressure in the external auditory meatus is increased, as by manual pressure on the tragus, in patients with a fistula between the perilymph and the middle ear resulting from any cause.
Henoch, Eduard Heinrich (1820–1910) German physician.
Henoch–Scho¨nlein purpura A hypersensitivity vasculitis of children in which both stroke and subarachnoid hemorrhage may occur apart from the gastrointestinal and renal manifestations.
Henoch syndrome The disease was
called ‘‘electrical chorea’’ by Henoch, who noted it in children with asymmetrical and variable lightning-like twitches in the shoulder and neck muscles which disappear hemispatial neglect (inattention) An hemoglobinopathic encephalopathy A diffuse in sleep but which later become generalized abnormal relationship between the patient and chronic. The term was later appropriated and the environment on the side opposite to encephalopathy occurring in children possessed of hemoglobin H and who present for the syndrome described by Dubini, a hemispheric lesion (usually the right which is probably quite different. See hemisphere) in which objects and events on with mental retardation. The responsible paramyoclonus multiplex. that side, including that half of the patient gene maps to 16pter–p13.5.
hemispatial agnosia See neglect.
hereditary brachial plexopathy
453
Henzschell syndrome See Apert syndrome.
Acute inflammatory demyelinating polyneuropathy may complicate viral hepatitis,3792 and a mild but painful sensory neuropathy is described in biliary cirrhosis.6287
hereditary adult-onset leukodystrophy A dominantly
inherited, chronic progressive neurological disorder of unknown nature characterized by the appearance of cerebellar, pyramidal, and hepatocerebral degeneration A autonomic symptoms and signs in mid-adult with onset in infancy, characterized by fasting hypoglycemia. As a result of lack of condition resembling Wilson disease, which life, clinically and radiologically similar to X-linked adrenoleukodystrophy but with a carnitine palmityl transferase activity, long was described 2 years later. The clinical different pattern of transmission and to chain fatty acid oxidation, ketogenesis, and features are those of cortical and basal multiple sclerosis except for the symmetry of gluconeogenesis are all impaired. No muscle ganglion disturbances. See acquired hepatocerebral encephalopathy and Alpers radiological findings.1836 disorder is associated.763 syndrome.
hepatic carnitine palmityl transferase deficiency A syndrome
hepatic decerebration The occurrence of decerebrate rigidity in hepatic hepatocerebral syndrome See encephalopathy. The pathophysiology is not acquired hepatocerebral encephalopathy. known.3260
hepatolenticular degeneration
hepatic encephalopathy A severe neuropsychiatric syndrome characterized by abnormal mental and other neurological status, occurring in patients with severe acute or chronic hepatic insufficiency or primary biliary cirrhosis. The clinical features range from mild cognitive impairment to coma and may include asterixis, tremor, ataxia, ophthalmoplegia, myelopathy, neuropathy, and autonomic insufficiency, usually in the presence of high levels of blood ammonia.1491, 2181 Triphasic waves are commonly found on the EEG in each of the two forms described:
See Wilson disease.
hepatorenal glycogenosis See glycogen storage diseases.
hepatosplenomegaly and adrenocortical deficiency A rare,
recessive congenital musculoskeletal disorder manifesting diarrhea and vomiting during the first year of life, followed by sensorineural hearing loss and pigmentary retinopathy, subnormal mentality, distal progressive muscular atrophy, hepatosplenomegaly, and adrenal insufficiency. There are reduced levels of 1. Acute hepatic insufficiency causes tissue arachidonic and other polyunsaturated rapidly raised intracranial pressure with deepening drowsiness leading to coma as fatty acids; prostanate and phosphate are a result of cytotoxic brain edema; death identified in the plasma. The condition may be a disorder of phytanic acid metabolism may ensue. 1784 2. Porto-systemic encephalopathy, in which the distinct from Refsum disease. clinical development is slower, passing from personality change and altered sleep patterns through ataxia and asterixis to stupor and coma. See acquired hepatocerebral encephalopathy.
Heracles A Greek god (Hercules in Latin) whose name was applied to epilepsy by Hippocrates, due to the strength and violence of the motor movements of the seizures.
hereditary amyloid neuropathy See Andrade neuropathy.
hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (13q34; COL4A1, collagen type IV 1) A dominantly inherited syndrome characterized by nephropathy with renal cysts and hematuria, angiopathy with leukoencephalopathy, retinal arteriolar tortuosity and intracranial aneurysms, paroxysmal painful cramps triggered by exercise and alcohol, and proximal weakness. Serum CK levels are high.4992
hereditary anhidrotic sensory neuropathy See hereditary sensory and autonomic neuropathy (recessive).
hereditary areflexic dystasia See Roussy–Levy syndrome.
hereditary arthroophthalmopathy See Stickler syndrome.
hereditary ataxia See cerebellar ataxias and Friedreich ataxia. hereditary benign chorea See hereditary nonprogressive chorea.3611
Hepatic Encephalopathy An online resource that reproduces sections of GI textbook, providing definition, causes, and treatments. Tables include a grading scale and common causes by type. Web site: http://www.clevelandclinicmeded.com/ medicalpubs/diseasemanagement/gastro/ henceph/henceph.htm.
herald hemiparesis The occurrence of mild hemiparesis when brain-stem signs may be absent or few, prior to the massive deficit produced by a succeeding basilar artery occlusion. There is nothing about the hemiparesis, however, which allows the subsequent events to be predicted.2098
hepatic neuropathy A mild,
hereditary acrolabial telangiectasia A dominantly inherited hereditary brachial plexopathy
demyelinating, sensorimotor peripheral neuropathy due either to the metabolic disorder which induced hepatic insufficiency or to the metabolic consequences of the organ failure.1491
syndrome characterized by blue discoloration of the lips, nails, and nipples, widespread telangiectasias of the skin, and migraine headaches.4383
hereditary branchial myoclonus with spastic paraplegia A dominantly inherited condition with adult onset, manifesting rhythmic myoclonus-like movements of the palate, pharynx, larynx, and face; truncal ataxia; and pyramidal signs, and leading to death in 5–10 years.1523 See also branchial myoclonus.
(familial recurrent brachial plexus neuropathy) A dominantly inherited syndrome of young adult life, characterized by unusual sensitivity of fibers of the brachial
hereditary bulbar atrophy plexus to intercurrent stretch or pressure, probably as a result of a subclinical inflammatory polyneuropathy, and leading to temporary but still prolonged conduction block.6240 Clinically, it presents with attacks of pain and weakness with atrophy of the muscles of the shoulder girdle and proximal arm. See also neuralgic amyotrophy. Cranial mononeuropathies and Horner syndrome are also occasionally found in such patients.794
hereditary bulbar atrophy (Fazio–Londe atrophy) See juvenile motor neuron disease.
hereditary carnitine deficiency
454
neuropathy A familial syndrome of
CA 90064-1560. Tel: 310-575-9656. distal weakness and atrophy with myokymia E-mail:
[email protected]. or fasciculations and delayed relaxation after Web site: http://www.hdfoundation.org/. voluntary contraction.3662
hereditary coproporphyria An uncommon, dominantly inherited form of porphyria. Neurological features complicate some acute attacks and include the occurrence of proximal motor neuropathy affecting the arms more than the legs (often asymmetrically) and also the face and autonomic system, in the setting of other features of the disease, including photosensitivity, abdominal pain, vomiting, tachycardia, hypertension, and often seizures and delirium.5370
See carnitine deficiency.
hereditary cerebellar ataxia See cerebellar ataxias.
hereditary cerebellar ataxia with mental deficiency See cerebellar ataxias (variants).
hereditary cerebral hemorrhage with amyloidosis– Dutch type See Dutch cerebral hemorrhage.
hereditary cerebral vasculopathy A dominantly inherited leukoencephalopathy appearing first in the third decade, characterized by dysarthria, progressive visual loss, dementia, and gait disturbance, thus resembling multiple sclerosis except that there is also visible retinal vasculopathy.2548
hereditary ceruloplasmin deficiency (hereditary ferroxidase deficiency) An autosomal recessive disorder characterized by subcortical dementia, involuntary movements, retinal degeneration, and diabetes mellitus in association with onset in adult life. Low serum levels of ceruloplasmin and iron overload, especially in the brain, pancreas, and liver, are characteristic. Serum ferritin levels are high. The mutation is mapped to chromosome 3q.4491
hereditary chin trembling See
hereditary demyelinating neuropathy of infancy A demyelinating peripheral neuropathy with onset in infancy, clinically resembling type III hereditary motor and sensory neuropathy (De´je`rine–Sottas disease) sometimes with bulbar and diaphragmatic involvement. Four point mutations in the peripheral myelin protein 22 (PMP22) gene have been found; the disease is genetically heterogeneous.6431
hereditary distal muscle dystrophy See Gowers syndromes and the following entry.
hereditary distal myopathy Genetically determined syndromes of distal muscle weakness and wasting, first described by Gowers.2532 Two forms are recognized as follows: (1) The autosomal dominant distal late hereditary myopathy of Welander6711 with onset after the age of 20 years, and with slow progression of symptoms starting in the hands and wrist extensors in both sexes; and (2) Another dominantly inherited form, characterized by the infantile onset of bilateral foot drop, weakness later affecting the hands and wrists but with no further progression after the age of 18 years.4013
hereditary distal spinal muscular atrophy A syndrome of
progressive symmetrical wasting and weakness presenting in childhood or adolescence. It resembles a form of peroneal muscular atrophy (hereditary motor and sensory neuropathy types 1 or 2), but there hereditary is less arm weakness, relative preservation of dentatorubralpallidoluysian atrophy (familial myoclonic epilepsy and the muscle stretch reflexes, and normal clinical sensory examination and motor and choreoathetosis, progressive pallidal atrophy, dentatorubral atrophy, dyssynergia sensory conduction study findings. Other variants are scapuloperoneal, cerebellaris myoclonica) A combined facioscapulohumeral, and generalized forms.2761 systemic degeneration of the dentatofugal and pallidofugal pathways, clinically manifesting chorea, dystonia, athetosis, hereditary dysphasic dementia ballism, and/or ataxia. A dominantly inherited dementing disorder Criteria for diagnosis are the presence of a of later adult life with prominent nonfluent dominantly inherited myoclonic epilepsy dysphasia and Parkinsonism. Pathologically, syndrome with or without cerebellar signs or features of Pick, Alzheimer, or Parkinson choreoathetosis in the presence of diseases are found in association with spongy dentatorubralpallidoluysian atrophy.6188 degeneration of the cortex.4497 See also primary progressive aphasia.
hereditary diffuse leukoencephalopathy with spheroids A rare, dominantly inherited
hereditary dysphasic disinhibition dementia See
progressive leukoencephalopathy frontotemporal dementia. characterized by giant neuroaxonal swellings within the CNS white matter, presenting hereditary dystonia with with dementia in adult life.2722
hereditary quivering of the chin.
contractures and abnormal Hereditary Disease Foundation muscle A congenital syndrome
hereditary continuous motor neuron discharges with
characterized by joint contractures, chorea, A charitable organization providing dystonia, and muscle fiber hypotrophy with information and support. Address: 11400 West Olympic Blvd., Suite 855, Los Angeles, ring fibers.381
hereditary liability to pressure palsies
455
hereditary dystonia with lightning jerks, responsive to alcohol See hereditary myoclonic dystonia.
hereditary dystonia– Parkinsonism syndrome of juvenile onset See dopa-responsive dystonia.
hereditary dystonic lipidosis See
Robertson pupils, gaze disturbances, reduced caloric reactions, optic atrophy, hyporeflexia, and mild lower motor neuron paresis in the legs with pes cavus and trophic foot ulcers but normal distal sensation. To date, the condition seems to have been reported only from Sweden.3963 The syndrome is probably a form of hereditary hypertrophic neuropathy, resembling De´jerine–Sottas neuropathy (hereditary motor and sensory neuropathy type 3).
Fabry disease.
hereditary ferroxidase deficiency See hereditary ceruloplasmin hereditary endotheliopathy with retinopathy, nephropathy, deficiency. and stroke (HERNS) A dominantly hereditary fructose intolerance inherited vasculopathy mapped to 3p21, leading to subcortical leukoencephalopathy and manifesting the features suggested by the appellation. It presents clinically with visual impairment, migrainelike headaches, dysarthria, hemiparesis, and apraxias in young adult life. Funduscopy shows a characteristic retinal vasculopathy involving the maculae. The presence of contrastenhancing subcortical lesions indicates that this is a multi-infarct syndrome, though separate from CADASIL.3192
A congenital dysmetabolic state due to the absence of fructose-1-phosphate aldolase B, the enzyme responsible for the assimilation of dietary fructose, and characterized in infancy by failure to thrive, vomiting, and hypoglycemia. In adults, the symptoms are those of hypoglycemia, including convulsions after fructose ingestion.1308 In a variant form, fructose 1:6diphosphatase activity is deficient. The clinical features are similar.
hereditary essential myoclonus
hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber
A dominantly inherited myoclonic disorder with onset before the age of 20 years, characterized by involuntary contractions of single muscles or groups of synergic muscles, resulting in jerks of various amplitudes. The movements involve arms, legs, trunk, and neck (particularly the arms and neck) and are most frequent and intense proximally. Movements are always rapid and brief and are sometimes asynchronous; accompanying EMG activity lasts less than 500 ms. The movements are increased by activities requiring fine coordination, such as writing, and by conscious attempts to inhibit them. No other neurological deficits are found; the course is benign and the condition does not decrease the lifespan.4021 Distinction from paramyoclonus multiplex is made mainly on the basis of the family history and exacerbation with activity.1469 See also paramyoclonus multiplex, myoclonus, essential myoclonus, and hereditary myoclonic dystonia.
hereditary facial spasm (Hellsing syndrome) A slowly progressive complicated polyneuropathy, dominantly inherited and manifesting uni- or bilateral hemifacial spasm, with facial weakness, Argyll
hemangiomatosis) A dominantly inherited disorder characterized by the presence of multiple dermal, mucosal, and visceral telangiectasias which bleed recurrently. Neurologically, emboli resulting from pulmonary arteriovenous fistulas, intracranial aneurysms with hemorrhage, and telangiectasias within the CNS are the major complications.5363
Hereditary Hemorrhagic Telangiectasia Foundation International Inc. A charitable, patient-centered organization concerned with this condition. Address: P.O. Box 8087, New Haven, CT 06530. Tel: 1-800HHT-NETW (USA) or 313-561-2537 (Canada) Web site: http://www.hht.org/.
hereditary hypertrophic neuropathy, trigeminal neuralgia, and deafness See hereditary motor and sensory neuropathy, type 1.
hereditary hypertrophic neuropathy with
paraproteinemia See gammopathic neuropathy.
hereditary inclusion body myopathy (distal myopathy with rimmed vacuoles, quadriceps sparing myopathy, GNE-related muscle disease) A group of rare/orphan genetic disorders caused by genetic variations in GNE and leading to progressive muscle wasting and weakness that begins in young adulthood and can lead to very severe disability within 10–20 years. Major features are progressive muscle weakness and wasting, the latter usually starting around the age of 20–30 years, often leading to severe disability within 10–15 years, and confining many patients to a wheelchair. The progressive weakness and severity vary from person to person. In some, weakness in the legs is noticed first. In a few others, the hands are weakened more rapidly than the legs. This disorder spares the brain, internal organs, and sensation. The quadriceps remain strong until the late stages of disease. See also inclusion body myopathy.
hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy A dominantly inherited condition characterized by retinal arteriolar tortuosity and recurrent retinal hemorrhages. Infantile hemiparesis and migraine with aura are added features.6456 See also hereditary endotheliopathy with retinopathy, nephropathy, and stroke, and hereditary vascular retinopathy.
hereditary kinesthetic reflex epilepsy See paroxysmal kinesigenic choreoathetosis.
hereditary late-onset chorea A variant of Huntington disease with onset over the age of 50 years.854 hereditary leukoencephalopathy and palmoplantar keratoderma A recessively inherited neurocutaneous syndrome with childhood onset, manifesting spastic quadriparesis and cognitive impairment in adult life.3918
hereditary liability to pressure palsies See hereditary pressure-sensitive neuropathy.
hereditary macular dystrophies with encephalopathy
456
hereditary macular dystrophies hereditary motor and sensory with encephalopathy (cerebroretinal neuropathies (HMSN) A
protein zero, connexin, and the neurofilament light chain.5688 Many variant forms have been identified (see Chart H–7). degeneration) Thars sphingolipidoses or heterogeneous group of familial disorders Some order was brought to the mucolipidoses, usually recessively inherited, characterized by the onset in childhood of associated with cone or rod-cone dystrophies denervation affecting the feet and legs before classification of the hereditary mixed neuropathies when nerve conduction studies or with pigmentary retinopathy. See also the hands and arms, and leading to slowly showed that, in most families, the motor neuronal ceroid lipofuscinosis. progressive weakness and muscle atrophy. The prototype was described by Charcot and conduction velocity was grossly reduced but 1109 in others it was reduced only to a figure still in France and independently by hereditary mirror movements Marie greater than 70% of the normal or 38 M/s. Tooth in England in the same year. The A dominantly inherited syndrome with Both this syndrome and the next (HMSN 1 first-identified responsible gene lies on childhood onset, characterized by the and HMSN 2) are also known by the names chromosome 1, but at two sites, with and performance of movements with one limb of Charcot, Marie, and Tooth, and as peroneal mirroring those voluntarily performed in the without linkage to the Duffy locus. Other muscular atrophy.2762 Despite the advances of genes implicated include peripheral myelin other, and by mental and developmental recent years, the classifications below are best protein-22, early growth response myelin delay.5647 See mirror movements. Chart H–7. Classification of the Hereditary Motor and Sensory Neuropathies Hereditary motor and sensory neuropathy type 1 (Charcot–Marie–Tooth disease, demyelinating form; peroneal muscular atrophy, CMT 1; HMSN type 1, Hoffmann disease, Roussy–Le´vy syndrome) A class of relatively common, dominantly or recessively inherited, slowly progressive hypertrophic demyelinating motor, and sensory neuropathies. Mutations in the early growth response gene have been found here and in subjects with congenital hypomyeliniating neuropathy (see below). The usual clinical onset is in childhood; widespread segmental demyelination of the peripheral nerves is found and the motor nerve conduction velocities (MNCVs) in the median nerves are below 38 M/s in the arm and distal) weakness and fasciculations but with sparing of type 1 fibers in muscle biopsy specimens using ATPase stains. The first identified responsible gene maps to 5q11.2. The major forms are recessively inherited with mainly proximal involvement. Dominant distal forms are heterogeneous; their gene mutations are mapped variously to chromosomes 2q14, 12q24, 7p, and 12q23–q24. X-linked forms are also described and segregated below. At the time of writing, 28 loci including 10 causative genes had been described; Access the Web site of the HUGO Gene Nomenclature Committee at http://www.gene.ucl.ac.uk/nomenclature for updates and that of OMIM at http://www.ncbi.nlm.nih.gov/omim for further descriptions.4812 The disease was first described by Werdnig in 1891; Hoffmann later reported its familial nature.6724, 2938 Instances of adult-onset amyotrophic lateral sclerosis have been recorded in the same families.
461
hereditary motor neuropathies
Criteria for the diagnosis of spinal muscular atrophy, type 1 have been suggested1209, 4992 and are as follows: 1. Clinical symptoms of anterior horn cell disease: areflexia or hyporeflexia; muscle atrophy; fasciculations. 2. Early onset and progressive course with an age at onset, less than 1 or 2 years and age at death less than 4 years. The children are never able to sit unsupported. 3. Creatine kinase levels are normal or up to 10 times higher than the reference value. 4. EMG study shows evidence of anterior horn cell involvement. 5. Muscle biopsy findings compatible with those of anterior horn cell disease. 6. Exclusionary findings are as follows: Symptoms referable to other neurological systems, such as sensory loss, central motor pathway signs, mental retardation, arthrogryposis, evident facial involvement, and other major organ involvement. Variant forms include: 1. A lethal recessive form with atrial and ventricular septal defects and joint contractures.4407 mapped to 5q. The next entry may be identical. 2. Congenital Werdnig–Hoffman disease with glial bundles in the spinal roots Whether this is a distinct variant is uncertain, since any form of HMN 1 may be associated with these glial bundles, but the bundles are not necessarily the cause of the disease, which is an anterior horn cell degeneration.4407 3. A form with pathological evidence of sensory fiber involvement.5126 4. Cervical spinal muscular atrophy A variant considered to be due to a restricted form of hereditary motor neuropathy resulting in progressive muscle wasting of the arms but generalized hyporeflexia and EMG evidence of widespread denervation.2526 5. A nonprogressive congenital variant considered to be due to an infarct or malformation of the lower cervical spinal cord, resulting in muscle wasting and contractures of the arms.1464, 2916 (Hirayama disease) The placement of this syndrome here as an hereditary motor neuropathy is speculative. 6. Infantile neuronal degeneration A recessively inherited form clinically resembling HMN 1, in which there is additional widespread neuronal loss and gliosis in both the gray and white matter in the thalamus, pons, cerebellum, and spinal cord and segmental demyelination in the peripheral nerves,6031 as in infantile neuroaxonal dystrophy. 7. Dominant congenital benign spinal musular atrophy A nonprogressive form of neurogenic weakness with leg contractures.2210 8. Infantile spinal muscular atrophy with respiratory distress A recessive form linked to a mutation on chromosome 11q13 with diaphragmatic paralysis and peripheral neuropathy.2586 9. A recessive or sporadic form with osteopenia, congenital bone fractures, and joint contractures. 10. Pontocerebellar hypoplasia with spinal muscular atrophy A lethal recessive form of hypotonia and weakness and ataxia with onset before or at birth. (distal forms) 11. Autosomal dominant distal hereditary motor neuropathy I (distal HMN I) presenting in juvenile to mid-adult life with distal symmetrical weakness and atrophy. 12. Distal hereditary motor neuropathy with upper motor neuron signs A dominantly inherited form characterized by pes cavus and the onset in childhood or adult life of distal weakness in all limbs with hyperreflexia; mapped to 9q34. (senataxin). Hereditary motor neuropathy type 2 (SMA2, early-onset spinal muscular atrophy, chronic or arrested Werdnig–Hoffmann disease, intermediate spinal muscular atrophy, infantile spinal muscular atrophy, arrested; chronic infantile form.) A recessively inherited, degenerative disease affecting bulbar and spinal motor nuclei with onset at or after 6 months of age and manifesting progressive, symmetrical, mainly proximal weakness and fasciculations, mild distal tremor, pes cavus, kyphoscoliosis, and contractures leading to crippling but with survival at least to 3 years and sometimes even into adult life.2632 Mapping to 12q24 has been achieved in one dominant distal form. Variant forms include379 1. A slowly progressive chronic motor neuropathy with more pelvic than shoulder girdle involvement and with dominant inheritance.6966 2. Infantile spinal muscular atrophy, arrested A nonprogressive form complicated by contractures.2128 3. Distal forms which can be recessively or dominantly inherited and with early or adult onset, mapped variously to 12q.24 or 9q34. Hereditary motor neuropathy type 3 (juvenile or pseudomyopathic spinal muscular atrophy, [Wohlfart–] Kugelberg–Welander disease, chronic juvenile amyotrophic lateral sclerosis) A slowly progressive degenerative disease affecting spinal more than bulbar motor nuclei with usual onset between the ages of 5 and 15 years and manifesting progressive, symmetrical, mainly proximal weakness with fasciculations, ophthalmoplegia, and eventually kyphoscoliosis, cardiomyopathy, and contractures, but with survival into middle age or later, and without sensory signs.6840, 3588 The responsible gene maps to 5q11.2. When the disease is purely of the lower motor neuron type and has its onset before 24 months, the transmission is usually dominant; after that age, transmission is usually recessive. When the disease shows both upper and lower motor neuron features, inheritance is recessive. Variant forms include 1. Juvenile spinal muscular atrophy with hexosaminidase A deficiency (GM2 ganglioside) A recessively inherited form with the particular features of onset in youth, cognitive dysfunction, postural tremor, muscle pain or cramps and neuronal inclusions.4409, 6966 2. A form in which the signs involve both proximal and distal muscles and the course is rapid. This has only been reported from Papua New Guinea.5696 3. Juvenile spinal proximal muscular atrophy Usually recessively inherited, but both dominant4956 and X-linked forms6412 have been reported. 4. A form in which progressive external ophthalmoplegia is associated. Further variants include; 1. The monomelic form which is usually sporadic;5939 spinal muscular atrophy with facioscapulohumeral distribution,2009 of which there is an X-linked variety. (Skre syndrome);5888 2. A distal form mapped to 11q13.3. continued
hereditary motor neuropathies
462
Chart H–8. (continued ) 3. A form with the early childhood onset of distal leg and quadriceps weakness. 4. (HMNJ, Jerash type) A recessive form mapped to 9p21 with childhood onset of distal leg more than arm weakness and some pyramidal signs. 5. X-linked distal SMA in which there is slow progression of distal weakness, initially of the legs, and pes cavus, reported once from Brazil. 6. Distal hereditary motor neuropathy A recessively inherited condition mapped to 11p reported from southern Italy. 7. Distal hereditary motor neuropathy A dominantly inherited condition mapped to 7q11 and allelic with CMT 2F. 8. Distal hereditary motor neuropathy A dominantly inherited condition of childhood affecting the distal legs and mapped to 7q34. Hereditary motor neuropathy type 4 (juvenile onset) An uncommon dominantly inherited variant in which the onset occurs between the ages of 6 months and 15 years, the course is slow and the outcome benign.4956 Hereditary motor neuropathy type 5 (adult spinal muscular atrophy with upper limb predominance) A form with autosomal recessive (seldom dominant) inheritance and onset in early childhood or adult life, presenting with cramps, atrophy, and neurogenic weakness mainly in the arms, complicated variously by such features as truncal ataxia, myotonia, hydrocephalus ex vacuo or external hydrocephalus. Mapping of dominant forms to 7p.15 or 11q13 (the latter allelic with Silver syndrome) has been achieved. In another dominant form described in adolescents there is weakness only in the distribution of the median or ulnar nerves. Hereditary motor neuropathy type 6 (spinal muscular atrophy with respiratory distress) An infantile form caused by mutations in the immunoglobulin m-binding protein-2 gene (IGHMBP2), mapped to 11q13.2 Diaphragmatic paralysis causes the respiratory failure. Hereditary motor neuropathy type 7 A dominant variant linked to chromosome 2q14. Type 7A is described in teenagers who present with gait disorder due to the distal weakness and with evidence of vocal cord paralysis. Type 7B is similar but is mapped to 2p13. Other variants are A proximal spinal muscular atrophy which may have dominant, recessive, or X-linked inheritance5285 and another form presenting in the context of GM2 gangliosidosis4603 Hereditary motor and sensory neuropathy, proximal (HMSN-P; CMT 2G ) A dominant form appearing in youth or adult life with added thick-fiber sensory loss and raised creatine kinase levels, described from Japan. It is mapped to 3q13.1 A congenital form, dominantly inherited, with contractures and normal nerve conductions A distal form with predominant involvement of the legs Other variants of the above syndromes include 1. Forms with Associated Lesions of the Nervous System: Anterior horn cell disease with cerebellar hypoplasia in infants A syndrome consisting of severe mental retardation, cortical blindness, and extensive peripheral paralysis of the lower motor neuron type and representing a combination of HMN 1 with extreme hypoplasia and atrophy of the cerebellum and of the ventral part of the pons.2525 Anterior horn cell disease with pontocerebellar hypoplasia: bulbar palsy with olivopontocerebellar atrophy (see cerebellar ataxias) A congenital form, recessively inherited, with the particular features of contractures; facial, bulbar, trunk, and limb weakness; abnormal motor conduction speeds with segmental demyelination; and pathological changes in the cerebellum, pons, medulla, and basal ganglia. Amyotrophic dystonic paraplegia2385 Amyotrophic lateral sclerosis and variants Amyotrophic lateral sclerosis–Parkinsonism–dementia complex of Guam Amyotrophic lateral sclerosis with dementia5036 Amyotrophic lateral sclerosis with autosomal dominant familial Parkinsonism.805 Amyotrophic lateral sclerosis with Pick disease1512 Arthrogryposis multiplex congenita The neurogenic form with distal involvement.2691 Arthrogryposis multiplex congenita The neurogenic form with pulmonary hypoplasia Arthrogryposis multiplex congenita A recessive form with renal and hepatic abnormalities and rarefaction of the anterior horns4656 Arthrogryposis multiplex congenita A distal, X-linked form including one type with anterior horn cell disease;2691 other forms are attributed to nonprogressive intrauterine myopathy or connective tissue disease Bulbar spinal muscular atrophy of childhood (See Fazio–Londe syndrome) Bulbar palsy with deafness (See Vialetto–van Laere syndrome) Bulbar palsy with deafness and pigmentary retinopathy Chronic asymmetrical spinal muscular atrophy A form with onset in young adult life and with the particular features of asymmetrical muscle atrophy, muscle pain or cramps, fasciculations, and neurogenic weakness.2757 Chronic spinal muscular atrophy with pallidonigral degeneration A recessively (occasionally dominantly) inherited form with the addition of resting tremor, akinesia, and cogwheel rigidity without myoclonus or dementia, with severe degenerative lesions in the pallidum and substantia nigra. Clinically there are fasciculations, proximal limb weakness, hyporeflexia or areflexia, and extrapyramidal syndromes including resting tremor, akinesia, and cogwheel rigidity. Evidence of neurogenic atrophy is obtained from EMG and from muscle biopsy spepcimens. Neurofibrillary degeneration is not present and there is no pathology resembling that of amyotrophic lateral sclerosis. The condition is regarded as a chronic spinopallidonigral degeneration because of the neuronal loss in the anterior horns, the globus pallidus and the substantia nigra without Lewy bodies or neurofibrillary degeneration.5736 Congenital lower motor neuron disease with arthrogryposis A form with the particular features of lordosis, scoliosis, club foot, varus joint contractures, and neurogenic trunk and limb weakness. Adult proximal spinal muscular atrophy (Finkel late-onset type of spinal muscular atrophy included) Clinically this is not different from recessive and X-linked forms.
463
hereditary motor neuropathies
Hereditary muscular atrophy with ataxia, retinitis pigmentosa and diabetes mellitus A syndrome inherited as a dominant characteristic, with onset in adolescence and a slowly progressive course.2249 See also NARP. Hereditary motor and sensory neuropathy, type 2 (neurogenic form) Kuskokwim disease A lower motor neuron syndrome with childhood onset A recessively inherited condition of childhood with both proximal and distal weakness and wasting and with contractures, mapped to 1p36 Progressive spinal muscular atrophy with chorea and deafness Progressive muscular atrophy with chorea and optic atrophy Spinal muscular atrophy with amyotrophic lateral sclerosis Both recessive2763 and dominant forms are described, the latter malignant, progressive, and resembling typical severe amyotrophic lateral sclerosis.4049 Spinocerebellar ataxia and deafness Spinal muscular atrophy, optic atrophy, and deafness Spinal muscular atrophy with deafness Distal spinal muscular atrophy with vocal cord paralysis6930 Spinal muscular atrophy with Joseph disease (Azorean ataxia, Joseph disease, spinopontine atrophy, nigrospinodentatal degeneration)5406 Spinal muscular atrophy with olivopontocerebellar atrophy type IV3672 Spinal muscular atrophy with bulbar palsy1668 Spinal muscular atrophy with ophthalmoplegia Spinal muscular atrophy with retinitis pigmentosa Spinal muscular atrophy with retinitis pigmentosa and hereditary spastic paraplegia. Spinal muscular atrophy with microcephaly and mental retardation A form with the particular features of microcephaly, deafness, mental and developmental delay, and onset in infancy5991 Spinal muscular atrophy with mental retardation Spinal muscular atrophy, mental retardation, seizures, and orofacial dysplasia Spinal muscular atrophy with myoclonus A slowly progressive form of spinal muscular atrophy also manifesting stimulus-sensitive myoclonus3163 Spinal muscular atrophy with oculopharyngeal muscular atrophy A form with onset in young adult life and with the particular features of ptosis, ophthalmoplegias, bulbar weakness, myopathic face, fasciculations, neurogenic muscle weakness, raised creatine kinase levels, and with variable fiber diameter and increased endomysial connective tissue on muscle biopsy Spinal muscular atrophy with recessive spinocerebellar degeneration (Friedreich ataxia)6471 The condition may be due to peripheral neuropathy (hereditary motor and sensory neuropathy type 2) rather than to anterior horn cell disease Spinocerebellar ataxia with rigidity and peripheral neuropathy A variant form with fasciculations and Parkinsonism as well as signs of peripheral motor neuropathy.6972 See also hereditary motor and sensory neuropathy type 2 with Parkinsonism Troyer syndrome See hereditary spastic paraplegia Neuronal intranuclear hyaline inclusion disease A single sporadic case, manifest by amyotrophy, dementia, seizures, choreoathetosis, and sphincter disorder Spastic paraplegia with amyotrophy of hands (Silver syndrome) A rare, dominantly or recessively inherited variant with childhood or early adult onset and slow course manifesting pyramidal signs in the legs and global wasting of the small hand muscles without fasciculations. It has been mapped to chromosomes 4p and 11q12–q14 and there is likely further genetic heterogeneity.4813 Other neurological signs have also been recorded.5835 Distal spinal muscular atrophy Sporadic or recessive forms which may be confined to the hands4740 Spinal muscular atrophy in xeroderma pigmentosum Spinal muscular atrophy in infantile neuroaxonal dystrophy (Seitelberger disease) Spinal muscular atrophy in amyotrophic choreoacanthocytosis (See neuroacanthocytosis) Both autosomal recessive and autosomal dominant inheritance patterns are described Spinal muscular atrophy with Huntington disease2159 Spinal muscular atrophy with lysosomal enzyme deficiencies A recessively inherited syndrome.2518 Spinal muscular atrophy with phenylketonuria A recessively inherited syndrome4287 Spinal muscular atrophy with hydroxyisovaleric aciduria: A recessively inherited syndrome1835 Amyotrophic lateral sclerosis with luysopallidonigral atrophy.2555 Spinal muscular atrophy with pallidonigral degeneration5736 2. Forms with Distinct Regional Involvement Hereditary motor neuropathy affecting the arms A slowly progressive demyelinating motor neuropathy affecting only the distal motor nerves of the arms.3669 Chronic neurogenic quadriceps amyotrophy Distal and segmental muscular atrophy of upper extremities A form with the particular features of fasciculations, muscle atrophy, neurogenic weakness, and sensory neuropathy with paresthesias, lacking a typical inheritance pattern.4958 Distal spinal muscular atrophy: A form with onset at any age, from infancy to adult life, and with the particular features of high arches of the feet, bulbar as well as distal involvement, retention of muscle stretch reflexes, and resting tremor. Both dominant and recessive inheritance has been described. MNCVs suggest primary neuronal involvement.2761 See hereditary motor and sensory neuropathy type 2. Distal spinal muscular atrophy with a hoarse voice A form with the particular features of onset in childhood, youth, or young adult life and presentation with hoarseness as a result of recurrent laryngeal nerve involvement.6930 In such a syndrome, ragged red fibers have been detected379 continued
hereditary motor neuronopathy affecting the arms
464
Chart H–8. (continued ) Facioscapulohumeral atrophy A dominantly inherited neurogenic form resembling facioscapulohumeral dystrophy, with onset in childhood or youth2009 Familial amyotrophic lateral sclerosis Fazio-Londe syndrome.1976 Focal cervical poliopathy of distal arm (juvenile muscular atrophy of unilateral upper extremity) A condition with a benign course, usually reported from Japan, in which the anterior horns of the spinal cord between C5 and T1 show shrinkage and necrosis of large and small nerve cells and mild gliosis. A circulatory disorder is considered the likely cause.2915 Infantile spinal muscular atrophy in incontinentia pigmenti An X-Linked dominant form, lethal in males3705 Juvenile bulbar spinal muscular atrophy See Fazio–Londe syndrome Monomelic spinal muscular atrophy Multiple contracture syndrome See Pena–Shokeir phenotype neuropathy-motor neuron disease with visual pathway disorder oculopharyngeal spinal muscular atrophy A rare, dominantly inherited variant manifesting external ophthalmoplegia, bulbar signs, and distal weakness and wasting, manifesting first in early adult life.4174 Progressive ophthalmoplegia in Kugelberg–Welander disease A form with the particular features of ptosis, ophthalmoplegias, and bulbar weakness, with onset in early childhood.38 Scapuloperoneal atrophy (Stark–Kaeser syndrome); A dominant, recessive, or X-linked syndrome characterized by slowly progressive neurogenic weakness and wasting in this distribution.3267 The phenotypes have been reviewed by Baraitser.379 Scapuloperoneal atrophy, cardiopathy, and inflammatory myopathy The neurogenic status of this form is not certain, as there is a definite myopathic component.3200 See also Emery–Dreifuss syndrome (autosomal dominant form).4372 Spinal muscular atrophy and pallidonigral degeneration A form with the particular added features of pyramidal signs, rigidity, and rest or postural tremor, with onset in mature adult life Spinal muscular atrophy, Ryukyuan type Spinal muscular atrophy [HMSN] with calf hypertrophy A form with the particular features of onset in young adult life, muscle hypertrophy, pain and cramp, raised creatine kinase levels, and slow progression.778 Duplication of 17p.11.2 has been reported in this condition. Forms with limb girdle or peroneal distribution X-linked varieties Kennedy disease (spinobulbar muscular atrophy) A form mapping to Xq21.3–q12, presenting clinically in young adult life with bulbospinal weakness and atrophy and with testicular failure. See X-linked bulbospinal muscular atrophy. Infantile spinal muscular atrophy with arthrogryposis (XL-SMA) A congenital or infantile form mapped to Xp11 with proximal weakness, joint contractures and facial dysmorphisms. Autosomal dominant varieties Adult onset with typical proximal weakness and atrophy, mapped to 20q13 Benign congenital with contractures, mapped to 12q23 A bulbospinal form resembling X-linked bulbospinal muscular atrophy but dominantly inherited A congenital form with leg weakness A nonprogressive form, mapped to 12q23 HMSN-P (Okinawa type) Dominantly inherited and mapped to 3q13 Scapuloperoneal syndromes See Emery–Dreifuss muscular dystrophy, acid maltase deficiency, and centronuclear myopathy A facioscapulohumeral phenotype with ragged red fibers and cardiomyopathy is also described X-linked distal hereditary motor neuropathy A form with adult onset, mapped to Xq13.1–q21. Other varieties Spinal muscular atrophy due to mitochondrial disease A form in which the picture of spinal muscular atrophy is accompanied by cardiomyopathy and cytochrome oxidase (COX) deficiency.5461 Recessively inherited forms with weakness and atrophy of the legs and pyramidal features, onsetting in childhood and linked to a mutation at chromosome 9p21.1–p12;1171 and (SPG 30). A form with spastic paraparesis and peripheral neuropathy associated with mild ataxia and cerebellar atrophy on CT scan; it is mapped to chromosome 2q37.3.3472 (After the work of the late Profs. Anita Harding and PK Thomas2762 and with data from Pestronk4992 (http://neuromuscular.wustl.edu/synmot.html/); by his kind permission; and from recent literature.)
hereditary motor neuronopathy affecting the arms See hereditary motor neuropathy (variants).
hereditary motor system disease (chronic juvenile amyotrophic lateral sclerosis) A recessively inherited,
slowly progressive syndrome with the onset dementia with arteriosclerotic in childhood or youth of bilateral pyramidal leukoencephalopathy.5952 and lower motor neuron signs affecting bulbar and spinal muscles and without hereditary multiple exostoses sensory loss.2715 A dyschondroplasia, usually dominantly inherited, characterized clinically by the hereditary multi-infarct development of multiple osteogenic dementia See familial subcortical exostoses from the metaphyses of long bones
hereditary nonprogressive chorea
465
more often than from other bones. Neurological involvement may include paraparesis resulting from cord compression.2026 The condition was first described by Stanley in 1894.
hereditary muscular atrophy with ataxia, retinitis pigmentosa, and diabetes mellitus See hereditary motor neuropathy (variants).
hereditary myoclonic dystonia (hereditary dystonia with lightning jerks responsive to alcohol, hereditary essential myoclonus, inherited myoclonus dystonia) A dominantly inherited benign syndrome incomplete penetrance starting in childhood and characterized by dystonia and myoclonus affecting mainly the neck and arms. There are seldom other neurological deficits and both EEG and SSEP recordings are normal. Both kinds of abnormal movement respond dramatically to alcohol ingestion.5159 A similar syndrome (but with onset in adult life) was reported by Davidenkow in 1926.
hereditary myoclonic encephalopathy A recessively inherited mitochondrial encephalomyelopathy. See Unverricht– Lundborg–Lafora syndrome.
hereditary myoclonus and progressive distal muscular atrophy A dominantly inherited multifocal neuronal degeneration of adult life characterized by stimulus-sensitive myoclonus and slowly progressive distal neurogenic muscle atrophy. Bulbar weakness, extrapyramidal signs, myoclonus, neurogenic muscle atrophy and weakness, raised serum creatine kinase levels, and paroxysmal EEG discharges are other features described.3163
Laing early onset distal myopathy affecting the dorsiflexor muscles of the continuous involuntary quivering of muscles toes and ankles and myosin storage myopathy (MSM) affecting proximal or causing movements in the eye, face, and limbs. In cases of generalized muscle stiffness scapuloperoneal muscles with subsarcolemmal accumulation of myosin and delayed relaxation, the term in type I fibers).4782 neuromyotonia has been applied. (See idiopathic neuromyotonia and myokymia.294, 2649, 2268, 3944) Most cases are hereditary nephritis and nerve deafness (distal muscle wasting, without familial occurrence; familial cases nephritis and deafness) A syndrome usually have an associated peripheral featuring evidence both of hereditary motor neuropathy. and sensory neuropathy and Alport syndrome.2736 hereditary myokymia with
hereditary myokymia and muscle stiffness A syndrome of
periodic (episodic) ataxia (Van Dyke Hanson syndrome) A rare, dominantly inherited syndrome of childhood onset paroxysmal ataxia lasting 1–2 min and induced by vestibular stimulation, movement, or shock; the movements probably represent an epileptic manifestation. Other features include persistent widespread myokymia which supervenes in youth and affects the face, hands, arms, and legs; truncal shaking or jerking movements of the head, arms, and legs; carpopedal spasms; and lower motor neuron disease without overt peripheral neuropathy. The condition is considered to represent a form of motor neuropathy on the basis of muscle biopsy findings.6492
hereditary neuralgic amyotrophy See neuralgic amyotrophy.
hereditary neurocutaneous vascular malformation The association of intracranial arteriovenous malformations with cutaneous hemangiomas, in the absence of retinal lesions. The condition has been reviewed by Baraitser.379
hereditary neuromyotonia See neuromyotonia.
hereditary neuropathy with liability to pressure palsies See hereditary pressure-sensitive neuropathy.
hereditary myopathy limited to females A slowly progressive dominantly hereditary nonprogressive inherited limb-girdle type of muscular athetotic hemiplegia A congenital dystrophy with onset in childhood or early adult life and expression limited to females, in which muscle biopsy specimens reveal isolated muscle fiber necrosis and phagocytosis.2870
hereditary myosin myopathies
A group of myopathies with highly variable clinical features with onset during fetal development, childhood, or adult life and caused by dominantly inherited mutations in skeletal muscle myosin heavy chain (MyHC) genes. The phenotypes diseases may be mild in childhood but progressive in adult life, hereditary myokymia the proximal muscle weakness impairing (normocalcemic tetany) A dominantly ambulation. Presentation with inherited syndrome of generalized hypertrophic or dilated cardiomyopathy myokymia and muscle cramping without evidence of peripheral neuropathy, typically without evidence of skeletal myopathy is with spontaneous, regularly recurring bursts recorded, while other mutations are associated with distinct skeletal of motor unit potentials arising distally in myopathies without cardiomyopathy (e.g., the nerve fibers.294, 5773
syndrome, dominantly inherited and nonprogressive after childhood, characterized by congenital left-sided hemihypoplasia, hemiparesis, and hypertonicity; left-hand athetosis after the age of 8 years and right-sided cerebral atrophy or hypoplasia.2656
hereditary nonprogressive chorea (hereditary benign chorea, benign familial chorea; OMIM 118700) A rare, dominantly inherited, nonprogressive, and eventually self-limiting syndrome characterized by the appearance in childhood or adult life of chorea, athetosis, and gait and limb ataxia without current or subsequent intellectual or neurological impairment. It is linked to chromosome 14q.2022 The condition is associated with striatal hypometabolism,2675 but no abnormality is detected on cerebral imaging.1949 In variant forms, essential tremor or some intellectual
hereditary nystagmus deficits do occur.3769 See chorea and Huntington disease.
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wrist swelling, pyramidal signs, myoclonic and other seizures, and dementia.58
hereditary nystagmus See congenital nystagmus.
hereditary Parkinsonism and neuropathy See hereditary motor neuropathy (spinocerebellar ataxia with rigidity and peripheral neuropathy), hereditary motor and sensory neuropathy, type 2 with Parkinsonism, and Parkinsonism-plus.
hereditary Parkinsonismdystonia See dopa-responsive dystonia. hereditary paroxysmal ataxia A dominantly inherited syndrome characterized by the onset in childhood of paroxysmal bouts of ataxia, dysarthria, and nystagmus, lasting 1–6 h on a weekly basis and responsive to acetazolamide.2582
hereditary persistent distal cramps A dominantly inherited syndrome of muscle cramps involving distal muscle groups with accompanying continuous muscle discharges which wax and wane. Clinically, the condition is marked by intermittent painful stiffness of the intrinsic hand muscles and the calves. The cause is unknown.3263
hereditary photomyoclonus A dominantly inherited syndrome consisting of deafness, diabetes mellitus, nephropathy, and light-sensitive seizures with dementia. The pathological features resemble those of subacute spongiform encephalopathy.2876 hereditary piebaldness and congenital deafness An autosomal or sex-linked recessive disorder manifesting depigmentation of the head and arms with pigmented spots, congenital neural deafness, and normal vestibular function.6863
hereditary poliodystrophy See hereditary motor neuropathy.
hereditary polycystic osteodysplasia with progressive dementia A rare, recessively inherited syndrome characterized by the onset in young adult life of bone pain, ankle and
hereditary polyneuropathy, oligophrenia, premature menopause, and acromicria
hereditary proximal spinal muscular atrophy See hereditary motor neuropathy.
hereditary putaminal necrosis
A dominantly inherited degenerative syndrome characterized by bilateral isolated necrosis of the putamen and globus pallidus A syndrome of slowly progressive paresis in with vascular proliferation and gliovascular the hands and feet, starting in childhood and lesions in the thalamus. Clinically, the leading to moderate incapacity, areflexia, syndrome is first expressed in infancy, the reduced motor nerve conduction velocity, major findings being psychomotor oligophrenia, premature menopause without retardation and increasing apathy with hypophyseal failure, and disproportionate seizures, inability to lift the head from the smallness with short arms and legs and pillow, difficulties with swallowing and 3962 acromicria. eating, and apparent blindness. Various movement disorders are described in some kinships, including pyramidal syndromes, hereditary pressure-sensitive athetosis, and ataxia. neuropathy (hereditary recurrent The disorder has also been described with pressure palsies, hereditary neuropathy onset in later life.1718 See also infantile with liability to pressure palsies, bilateral striatal necrosis. tomaculous neuropathy, familial recurrent pressure palsy, familial recurrent hereditary quivering of the chin polyneuropathy)4969, 5736 A dominantly (geniospasm, hereditary chin trembling, inherited syndrome of young adult life trembling chin) A congenital, dominantly characterized by unusual sensitivity of the inherited syndrome (chromosome 9q) peripheral nerves to intercurrent pressure characterized by transient fine tremors of (probably as a result of subclinical the mentalis muscles occurring during polyneuropathy), leading to painless, emotional stimulation; they disappear in temporary but still prolonged conduction calmness and sleep and go away with 1798, 4011, 6240 block. A deletion at increasing age.2198, 5403, 6813 17p11.2–12 has been detected, the same In variant forms, nystagmus and nocturnal site as that involved in hereditary motor myoclonus have also been described.2504 In and sensory neuropathy type 1A, but the fact the disorder may be a form of localized condition is genetically heterogeneous. myoclonus.1614 There may be associated electrophysiological evidence of a hereditary recurrent focal generalized neuropathy as well as local neuropathy See hereditary pressureconduction block at the site of nerve sensitive neuropathy. compression. A wide range of symptoms is described, from numbness, paresthesias or hereditary recurrent pressure absent reflexes to paralysis and objective sensory loss. The ulnar, median, radial, and palsies See hereditary pressure-sensitive neuropathy. common peroneal nerves are those most commonly affected, but any nerve is at risk, including the V and VIII cranial nerves. hereditary sensory and Even such trivial compressive traumas as autonomic neuropathy (HSAN) using scissors, knitting, squatting, plaster A group of similar sensory neuropathies casts, and wearing tight shoes have been which may be classified as shown in incriminated. Chart H–9 (after Dyck1769 and Biopsy specimens show a tomaculous Donaghy1682). neuropathy with axonal loss. The syndrome In yet other variant forms, motor of familial (or hereditary) neuralgic neuropathy, mental retardation, Friedreich amyotrophy may be associated but is not the ataxia, cerebellar degeneration, hypotonia, same condition.1498, 2522 skeletal dysplasias, and dysmorphism are In variant forms, the syndrome is manifest variously associated. See also congenital as recurrent brachial plexus palsies,6067 or is asymbolia, Fabry disease, and Tangier sporadic.5256 disease.
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hereditary sensory and autonomic neuropathy (HSAN) Chart H–9. The Hereditary Sensory and Autonomic Neuropathies
Autosomal Dominant Inheritance HSAN1 (dominantly inherited sensory neuropathy, HSAN1 of Dyck, Denny Brown or Hicks, hereditary sensory radicular neuropathy, hereditary perforating ulcers of the feet, familial mutilating ulcerative acropathy, hereditary lumbosacral syringomyelia, familial neurogenic osteoacrolysis, hereditary sensory neuropathy with peroneal muscular atrophy, acrodystrophic neuronopathy)1585, 2890 A dominantly inherited (9q22.1, SPTLC1, serine palmitoyltransferase), slowly progressive sensory > motor neuropathy with onset in childhood, youth, or early adult life. Clinical features include lancinating pains or painful burning paresthesias affecting the legs; autonomic signs such as distal anhidrosis and sometimes sensorineural deafness, neurogenic muscle atrophy, particular loss of pain and temperature rather than other sensations, multiple fractures, and mutilating acropathy.1586, 1891 Muscle strength is usually normal. This is the most common form of HSAN. Nerve conduction studies show significantly reduced or absent SNAPs with normal MNCVs. The sensory findings are often disassociated with prominent pain and temperature loss. Neurophysiology shows evidence of a sensory axonal neuropathy but in many individuals there is also electrical evidence of demyelination. Sural nerve biopsies show mainly axonal loss.3006 Observations of kinships in Newfoundland (and in France1726) indicate that there may also be notable lower motor neuron involvement, so differentiation from the axonopathy hereditary motor and sensory neuropathy type 2 may be difficult. Variants are HSAN1 with spastic paraplegia A dominantly inherited sensory neuropathy with congenital or childhood onset of loss of pain, temperature, and touch sensations leading to mutilating acropathy, neurogenic bladder, spasticity, and both myelinated and unmyelinated fiber loss.1062 Hereditary sensory neuropathy with deafness A form with sensorineural deafness. Dementia2995 and ataxia have also been recorded as complications but in such cases, widespread cell loss and gliosis in other areas suggest that this may represent a form of familial multisystem atrophy. In a related form, loss of gastric motility is also described. Ulcerative mutilating acropathy with abnormal CSF aminoacids An inherited sensory neuropathy with onset in youth, manifesting also loss of pain, temperature, and touch sensations; incontinence; and generalized skin atrophy. Hereditary ataxia with thermoanalgesia and loss of fungiform papillae A variant with these features and added ataxia, alacrimia, impaired taste, and temperature control. Hereditary sensorimotor neuropathy with ulcero-mutilation A dominantly inherited form with onset in adult life, similar to the prototype above but without genetic linkage to it.4992 See also Madelung syndrome. Autosomal Recessive Inheritance HSAN 2 (congenital sensory neuropathy, lumbosacral syringomyelia, congenital insensitivity/indifference to pain) A slowly progressive form of HSAN in which all modes of sensation are affected from the earliest years and in which lancinating pains are less frequent than in HSAN1.4560, 4776 It is mapped to 12p13. The phenomenon of congenital insensitivity to pain (CIP) resembles this neuropathy in its manifestations but a central origin seems more likely,2153 especially because the sensory nerve action potentials are missing in HSAN2 but not in CIP, spontaneous pains are common, and there is in HSAN2 a graded reduction of sensation centrifugally in the limbs, the trunk remaining sensitive until very late. Variants with tonic pupils or with dominant inheritance have also been described. HSAN3 (familial dysautonomia, Riley–Day syndrome, congenital insensitivity to pain with dysautonomia) A recessively inherited sensory and autonomic axonal neuropathy with congenital onset. The major clinical features include low birth weight, failure to thrive, feeding difficulty, and autonomic dysfunction, short stature, sparse and depigmented hair, absent or sparse tears, optic atrophy, nerve deafness, smooth tongue with loss of the fungiform papillae, kyphoscoliosis, hyporeflexia, loss of pain and temperature sensations, impaired temperature control, hyperhidrosis, orthostatic hypotension, and loss of the histamine flare in the skin. Nerve biopsy specimens show both myelinated and unmyelinated fiber loss.69, 5303 It occurs almost exclusively in Ashkenazi Jews. Mapping to 9q31–q33 has been achieved. CMAP amplitudes are reduced, MNCVs are slowed and SNAPs are much reduced in amplitude if recordable at all. A variant dominant form with onset in the fifth decade manifesting added ataxia is also described. (www.wustl.edu/neuromusculatr/sensory-small.html) HSAN4 (congenital insensitivity to pain with anhidrosis, hereditary anhidrotic sensory neuropathy, syndrome of the neural crest, familial dysautonomia type II) A recessive sensory neuropathy (1q21–q22, NTRK1) with congenital or early childhood onset. The major clinical features are loss of pain, temperature, and touch sensation with self-mutilation, poor temperature control, multiple fractures, hypohidrosis, cutaneous ulcers, and intellectual impairment. Nerve biopsy specimens show loss of both small myelinated and of unmyelinated fibers.6152 Variants are described with dominant inheritance, or with a nonprogressive course.4695 HSAN5 (congential insensitivity to pain without anhidrosis) A rare, recessive disorder of young children, resembling HSAN IV and also due to mutations in the NTRK1 gene on chromosome 1. Nerve biopsy shows the loss of small myelinated Ad fibers with relative preservation of unmyelinated fibers. HSAN with spastic paraplegia (Cavanagh variant) A recessively inherited sensory neuropathy with congenital or childhood onset of loss of pain, temperature, and touch sensations, neurogenic bladder, spasticity, and both myelinated and unmyelinated fiber loss. This condition resembles the dominantly inherited variety but is more severe.1062 It maps to 5p15. HSAN with loss of pain perception A rare recessive variant due to lack of nerve growth factor-b, mapped to 1p13.1 and resembling HSAN2 except that sweating is retained. HSAN with neurotrophic keratitis A congenital syndrome of loss of pain and temperature sensations with mutilating acropathy, corneal ulceration, and opacification and anhidrosis.1682 HSAN with predominant loss of small myelinated fibers. continued
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Chart H–9. (continued ) X-linked Inheritance Pattern HSAN, X-linked An otherwise typical form of sensory neuropathy with onset in infancy, childhood or youth of loss of pain, touch, and temperature sensations, complicated by neuropathic deformity and ulceration of the feet, joint stiffness and arthritis, and abnormal sensory conductions. Pathologically there is a loss of myelinated fibers. The condition is marked by minimal involvement of the muscle stretch reflexes and absence of autonomic involvement.3217 The gene lies in the dxys 1–p58–1 region of the X-chromosome.5455 Other Forms Congenital insensitivity to pain A dominantly inherited congenital syndrome consisting of cloudy corneae, hyperactivity, and self-mutilation. Paroxysmal headaches, loss of pain and temperature sensations, paresthesia, and flushing are other features.453, 3220 Congenital pain asymbolia with auditory imperception A congenital syndrome consisting of auditory agnosia, loss of pain sensation, and speech delay. HSAN with dysautonomia and corneal insensitivity A congenital syndrome comprising loss of pain sensation, poor temperature control, absent or sparse tears, flushing, corneal ulceration, and myelinated fiber loss. See hereditary sensory and autonomic neuropathy (recessive). HSAN with tonic pupils A sensory neuropathy with childhood onset in which there is loss of pain and temperature sensations associated with features of the Holmes–Adie syndrome.4373 Sensory neuropathy with hereditary ataxia (congenital sensory neuropathy with selective loss of small myelinated fibers, congenital insensitivity to pain, HSAN5) A congenital, recessively inherited sensory neuropathy with onset in childhood, manifesting loss of pain and temperature sensations and acropathy, and also cloudy corneas, pupillary abnormalities, hyperactivity, self-mutilation, paroxysmal headache, paresthesias and flushing, and both myelinated and unmyelinated fiber loss in peripheral nerves.3927 It is due to mutations in the NTRK1 gene on chromosome 1.
hereditary sensory and autonomic neuropathy with deafness See hereditary sensory and
systemic arteriopathy is responsible for recurrent ischemic strokes and progressive subcortical dementia in middle-aged adults. Prominent clinical manifestations also autonomic neuropathy (dominant). include migraine with aura and mood disorders. See also cerebral autosomal hereditary sensory and recessive arteriopathy with subcortical autonomic neuropathy with infarcts and leukoencephalopathy dysautonomia and corneal (CARASIL), cerebroretinal vasculopathy, insensitivity See hereditary sensory and hereditary endotheliopathy with autonomic neuropathy (other). retinopathy, nephropathy, and stroke syndrome (HERNS), and familial amyloid hereditary sensory and angiopathies.
autonomic neuropathy with neurotrophic keratitis See
hereditary sensory and autonomic neuropathy (recessive).
hereditary sensory and autonomic neuropathy with spastic paraplegia See hereditary
hereditary spastic ataxia A dominantly inherited hereditary cerebellar ataxic syndrome of adult life with added pyramidal signs and sometimes retinal degeneration and vestibular impairment.563 See also familial spastic ataxia and cerebellar ataxias.
sensory and autonomic neuropathy.
hereditary spastic dystonia An hereditary sensory and inherited dystonic syndrome manifesting autonomic neuropathy with also optic atrophy, dystonias, and rigidity tonic pupils See hereditary sensory and with evidence of putaminal necrosis on MRI autonomic neuropathy (other).
or CT scans. The condition may be a form of mitochondrial encephalopathy.926
hereditary sensory radicular neuropathy See hereditary sensory and hereditary spastic paraparesis autonomic neuropathy, type 1.
See hereditary spastic paraplegia.
hereditary small vessel diseases hereditary spastic paraparesis of the brain (SVDB) The most common with wasting and growth retardation See Troyer syndrome. form is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by mutations in the NOTCH3 gene. This
hereditary spastic paraplegia (HSP, hereditary spastic paraparesis, familial
spastic paraplegia, Stru¨mpell–Lorrain syndrome.) A heterogeneous group of degenerative diseases, usually dominantly inherited, with particular effects on the pyramidal tracts and occurring in pure and in complicated forms. The condition was first described by Seeligmu¨ller in 1876 and Stru¨mpell6098 in 1880. Mutations in the alastin and spastin genes SPG3A or SPG4 are found in most cases, including in some of the variants listed below but nearly 40 genetic loci and 10 identified and 17 unidentified genes may also be responsible.4213 Genetic loci are designated Spastic ParapleGia 1 (SPG1) through SPG20 in order of their discovery. The pure form, in which there are no other neurological findings, has been mapped variously to chromosomes 2p22–p21(SPG4, OMIM 182601); 14q11.2q–24.3 (SPG3, OMIM 182600); 15q11.1 (SPG6, OMIM 600363); 8q232–q24 (SPG8, OMIM 603563); 10q23–q24.1 (SPG9, OMIM 601162); 12p13 (SPG10, OMIM 604187); 19q13 (SPG12, OMIM 604805); 2q24 (SPG13, OMIM 605280). Autosomal dominant is far more common (70%) than autosomal recessive (AR) transmission (8p12–q13, SPG5, OMIM 270800; 16q24.3, SPG7, OMIM 602783; 15q13–15, SPG 11, OMIM 604360; 3q27–q28, SPG14, OLMIM605229; AR symmetrical spastic cerebral palsy, 2q24–25, OMIM 603513; AR Charlevoix-Saguenay spastic ataxia, 13q12 OMIM 270550) or X-linked (Xq22). Over 16 loci had been mapped to 2005 and the number is rising.6195, 2057, 2058 Clinically, the onset is at any age; children show delay in the development of motor
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skills while adults complain of easy tiring, tripping, and stiffness. In all, insidiously progressive pyramidal signs are found (mainly in the legs), typical except that spasticity is unusually marked in comparison to the relative preservation of strength. Pes cavus is seen in about a quarter of affected subjects. Sensory complaints are generally lacking, but autopsy findings show posterior column degeneration in some cases.777, 1766 Cognitive decline appears to be associated with the 2p and 8q mutations. Dominant forms are Spastic ParapleGia (SPG) 3A (14q, atlastin) often associated with an axonal sensorimotor neuropathy; SPG 4 (2p22, spastin, the commonest single mutation); SPG 6 (15q11; NIPA1 mutations; adolescent/adult-onset, a severe, slowly progressive, pure HSP); SPG 8 (8q23); SPG 9 (10q23); SPG 10 (12q13); SPG 12 (19q13); SPG 13 (2q24), SPG 17 (11q12); and SPG 19 (9q33). Most are uncomplicated, though SPG 9 is associated with cataracts, neuropathy, and gastroesophageal reflux. SPG4 has its onset at any age presenting with spastic paraparesis of any severity, and adds loss of bladder and bowel control, cognitive impairment seizures, and peripheral neuropathy. SPG19 is a pure dominant form. SPG 12 has early onset and rapid progression and is accompanied by sensory disturbances. Kinesin heavy chain and heat shock protein (chaperonin) are rare mutations. There is much overlap between cerebellar ataxias and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations.4665 Recessive forms are SPG5 (8q); SPG 7 (16q); (SPG7/papaplegin) presenting as either pure or complicated forms of HSP; SPG11 (15q) often with thin corpus callosum, cognitive decline, and lower motor neuron degeneration;6048 SPG 14 (3q27) with added neuropathy; SPG 15 (14q) with thin corpus callosum; SPG21 (13q14) with childhood onset; and SPG20 (13q, spartin–spastin-related autosomal recessive Troyer protein) which underlies Troyer syndrome. These have numerous phenotypes, including pure HSP with early onset; pure HSP with late onset; HSP with mental retardation; HSP with both mental retardation and peripheral neuropathy; and HSP with cerebellar ataxia; other CNS and PNS disturbances have also been reported.1303, 6195 The first gene identified for the recessive forms was paraplegin. X-linked forms (SPG1 on Xq28, OMIM 308840; SPG2 on Xq22, OMIM 312920; and SPG16 on Xq11, OMIM 300266) also
have numerous additional clinical features.6195 Proteolipid protein gene duplications and point mutations that cause Pelizaeus– Merzbacher disease and L1 Cell Adhesion Molecule (L1CAM) mutations are responsible for many X-linked neurologic disorders, including complicated spastic paraplegia, hydrocephalus, and mental retardation aphasia, shuffling gait, and adducted thumbs (MASA) syndrome. Numerous kinships with clear additional features complicating hereditary spastic paraplegia have been described. In these complicated forms, amyotrophy resembling that of hereditary motor and sensory neuropathy, distal involvement, mental retardation, deafness, optic atrophy, pigmentary retinal degeneration, extrapyramidal features, ataxia and dysarthria, sensory neuropathy, and skin lesions have been detected variously. A complete review has been published.4214 The compilation in Chart H–10 is based upon Harding’s2754 and Baraitser’s379 reviews of the major variants. See also the Web site of the Spastic Paraplegia Foundation http:// www.hspinfo.org/ for evolving information. See also the Spastic Paraplegia Rating Scale and the Web site http:// www.med.umich.edu/hsp/, which provides data on genetic analysis and clinical features. Diagnostic criteria for family members of HSP subjects have been suggested as shown in the table. Alternative diagnoses should first be excluded, and the family history should be consistent with autosomal dominant, autosomal recessive, or X-linked recessive inheritance. These criteria are perhaps most
useful for standardization in a research setting and are open to criticism. Many definitely affected individuals lack grade 4 hyperreflexia. The criteria for the definitely unaffected category are insufficiently rigorous in view of the wide range in age at onset that may occur in some families. See also the Web site http:// www.hspinfo.org/ for further information from the Spastic Paraplegia Foundation.
hereditary spastic paraparesis with cognitive loss An autosomal dominant form of hereditary spastic paraparesis (HSP), manifesting late-onset cognitive impairment (subcortical dementia) and with genetic linkage to the SPG4 locus on chromosome 2p as reported in pure HSP.6681 See also the entries above.
hereditary spinal arachnoid cyst, distichiasis, lymphedema syndrome A congenital dysmorphic syndrome manifesting also vertebral abnormalities, kyphosis, spinal tumors, congenital cardiac malformations, pyramidal signs, and thick fiber sensory neuropathy.381
hereditary stiff baby syndrome The earliest, infantile expression of hyperekplexia. See also startle epilepsy.
hereditary striatal degeneration (holotopistic striatal degeneration) A dominantly inherited syndrome characterized by apathy and psychomotor retardation appearing in infancy or childhood. Dysarthria, rigidity,
Suggested diagnostic criteria for family members from families with pure HSP2060 Status
Criteria
Definitely affected
Progressive gait disturbance and frank corticospinal tract involvement of lower limbs, including grade 4 hyperreflexia and extensor plantar reflexes. Individuals lacking history of progressive gait disturbance, or asymptomatic individuals with signs of spastic paraparesis, examined only once and so not proven to have a progressive gait disturbance and frank corticospinal tract involvement of lower limbs, including grade 4 hyperreflexia and extensor plantar reflexes. (Serial examinations may allow recategorisation as definitely affected.) Asymptomatic þ normal gait þ questionably abnormal corticospinal tract signs,for example, mild hyperreflexia, unsustained clonus but downgoing plantar reflexes. Asymptomatic þ normal neurological examination þ age greater than maximal age of symptoms in family. Asymptomatic þ normal neurological examination þ age younger than maximal age of symptoms in family.
Probably affected
Possibly affected Definitely unaffected Probably unaffected
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Chart H–10. Variant (Complicated, not ‘‘Pure’’) Forms of Hereditary Spastic Paraplegia Complex forms of hereditary spastic paraplegia (HSP) are rare and usually recessively transmitted. Co-existing ataxia, dysarthria, unipolar depression, epilepsy, migraine, and cognitive impairment variably expressed and linked to the SPG4 locus on chromosome 2p as for pure HSP. There is marked clinical heterogeneity of HSP associated with spastin mutations.4666 The following compilation is from the literature and with assistance from Dr. Alan Pestronk, with many thanks. Variants include: Adult onset leukodystrophy A dominantly inherited form with its onset in the third or fourth decade, presenting with gait instability, pyramidal signs, and autonomic abnormalities. Andermann syndrome Autosomal recessive spastic ataxia associated with white matter changes A form with onset at any age, manifesting cerebellar ataxia and spasticity and mapped to 2q33–34. The more severe cases show spasticity from birth, scoliosis, dystonia, and cognitive impairment and are usually diagnosed as having cerebral palsy. Brain MRI shows cerebellar atrophy, sometimes associated with cortical atrophy, leukoencephalopathy, and thinning of the corpus callosum.6271 Charlevoix-Saguenay syndrome A form which is slowly progressive and recessively inherited with its onset in childhood, characterized by dysarthria, nystagmus, ataxia, pyramidal and posterior column signs, and impaired vertical pursuit movements of the eye and sphincter involvement, reported from Quebec.762 It is mapped to 13q.11. Familial spastic paraparesis and deafness A rare, X-linked syndrome characterized by short stature, hypogonadism, elevated CSF protein levels, and in some cases pigmentary retinopathy and lens opacities.1278 Familial spastic paraparesis and dementia Forms that are usually dominantly inherited. See familial multi-infarct dementia and Worster–Drought syndrome. Familial spastic paraplegia with amyotrophy of the hands (Silver disease, hereditary spastic paraparesis with amyotrophy) A rare, dominantly or recessively transmitted variant with childhood or early adult onset, manifesting pyramidal signs in the legs and global wasting of the small hand muscles. Various other neurological features have also been described in this condition.2289, 5835 In further variants, the onset is in childhood, and leukodystrophy, cerebellar deficits, and mild mental retardation are other features;2252 or the condition is recessively inherited with mental retardation, brainstem dysraphism, and cerebellar atrophy, mapped to 14q12.6051 Spastic paraplegia type 2 with dystrophic axonal peripheral neuropathy and apparent proteolipid protein gene (PLP1)3747 Hereditary spastic paraparesis with ataxia A dominantly inherited form appearing in adult life, in which the spastic syndrome is accompanied by pathological evidence of degeneration of the pyramidal and spinocerebellar tracts and of the posterior columns, with the expected clinical features.5634 In still other forms, extrapyramidal features are also found.2015 See also hereditary spastic ataxia, familial spastic ataxia, and cerebellar ataxias. Hereditary spastic paraparesis with deafness An X-linked degenerative disorder with onset in late childhood, manifesting nerve deafness, spastic paraparesis, tremor, ophthalmic abnormalities, sensory deficits, short stature, cataract, hypogonadotrophic hypogonadism, elevated CSF protein levels, and absent or delayed somatosensory evoked potentials. Except for the normal levels of very long chain fatty acids, the condition resembles adreno-myelo-neuropathy.6717 Hereditary spastic paraparesis with brachydactyly and cone-shaped epiphyses A congenital or childhood variant with brachydactyly and epiphyseal dysplasia, reported once. Hereditary spastic paraparesis with dementia A dominantly inherited adult variant characterized by the occurrence of dementia late in the course of the disease.6873 The 2p and 8q mutations appear most liable to induce this syndrome. Hereditary spastic paraparesis with optic atrophy, dementia, and cardiac involvement Forms in which any of these features complicate the spastic paraparesis.6140 Further variants are reviewed by Baraitser.379 Inheritance patterns vary. Hereditary spastic paraparesis with seizures A dominantly inherited form with a tendency to seizures and with familial associations with multiple sclerosis due to a frame shift in the spastic (SPG4) gene.4269 Hereditary spastic paraparesis, mental retardation, and precocious puberty A childhood variant with dysarthria, early puberty, paraparesis, and mental and developmental delay. Hereditary spastic paraparesis with oligophrenia (X-linked) A congenital variant with added mental retardation, facial palsy, athetosis, and ataxia.317 Hereditary spastic paraparesis with dysarthria and cutaneous lesions An infantile variant with dysarthria, pigmentary disturbances, and abnormal EEG. One such form maps to 1q24. Hereditary spastic paraparesis with extrapyramidal features A childhood variant, usually dominantly inherited, characterized by athetosis or dystonia, rigidity, and hyperreflexia.1633 Hereditary spastic paraparesis and macular degeneration (Kjellin syndrome) A variant form presenting in youth with pigmentary retinal degeneration, distal motor neuropathy, spasticity, and mental and developmental delay. Another recessive form that is typical but with severe dysarthria has been linked to the SPG15 locus on 14q.3035 Hereditary spastic paraparesis with peroneal neuropathy and crural hypopigmentation A dominantly inherited childhood neurocutaneous syndrome with high palate, dysarthria, lordosis, pes cavus, patchy depigmentation of the skin, and peroneal motor neuropathy.6061 Hereditary spastic paraparesis with peripheral retinal degeneration A recessively inherited variant occurring in young adult life, manifesting pigmentary retinopathy, spasticity, and mental impairment.5888 Forms with dominant inheritance or with sensory losses have also been reported.379 Hereditary spastic paraparesis with sensory neuropathy A dominantly or recessively inherited variant with onset in childhood or early youth, characterized by the addition of a neuropathy resembling hereditary sensory and autonomic neuropathy, type 2.3413, 5577 Hereditary spastic paraparesis with mental impairment and thin corpus callosum A recessively inherited variant characterized by these features and mapped to 15q13–15.5800 It is, however, both clinically and genetically heterogeneous SPG11 and SPG15 are the major loci.
Hering’s Law
471
Hereditary spastic paraparesis with epilepsy and thin corpus callosum mapped to 8p12.89 Hereditary spastic paraparesis with syndactyly A variant with onset in youth or early adult life, characterized by sensorineural deafness, osseous syndactyly of the fingers, spasticity, and incontinence. Kjellin syndrome Leber hereditary optic neuropathy MASA syndrome An X-linked recessive variant with onset in youth, characterized by Mental retardation, Adducted thumbs, Shuffling gait (due to paraparesis), and Aphasia.614 Mast syndrome A static form with onset in young adult life, characterized by spastic paraparesis, athetosis, dysarthria, and dementia, described in the Pennsylvanian Amish people.1354 A form with features of peroneal muscular atrophy. A form resembling amyotrophic lateral sclerosis. Spinal muscular atrophy with spastic paraplegia, mental retardation, and ichthyosis See Sjo¨gren–Larsson syndrome. Spastic paraparesis, ataxia, mental retardation (SPAR) A dominantly inherited disorder manifesting these features, with marked atrophy of the spinal cord.2692 Spinal muscular atrophy with retinitis pigmentosa and hereditary spastic paraplegia. Troyer syndrome (hereditary spastic paraparesis with wasting and growth retardation) A static form with onset in childhood, characterized by pseudobulbar palsy, athetosis, short stature, speech defect, and mental and developmental delay, described in some Pennsylvanian Amish people.1355 Yet other variants with added cerebellar signs, dystonia or choreoathetosis, sensory neuropathy, abnormal skin pigmentation, hyperekplexia, or with seizures are also described.5241
and chorea are the main features in older individuals.4416
hereditary thermosensitive neuropathy A dominantly inherited
microangiopathy of the retina associated with migraine, Raynaud’s phenomenon, mild cognitive decline, and depression.6456
hereditary vertical nystagmus
demyelinating neuropathic syndrome characterized by reversible episodes of ascending muscle weakness, paresthesias, and areflexia triggered by elevations of body temperature above 38.58C.4017
A dominantly inherited syndrome with congenital onset characterized by vertical nystagmus which may be associated with mild ataxia and titubation.2156
hereditary torsion dystonia See
A rare, metabolic disorder of infancy manifesting tremor, ataxia, head titubation, and loss of vibration sense.
dystonia.
hereditary vitamin E deficiency
hereditary transcobalamin II deficiency A congenital dysmorphic
hereditary whispering dysphonia A dominantly inherited syndrome characterized also by red blood cell
heredofamilial mononeuritis multiplex with brachial predilection A dominantly inherited condition in which there are recurrent episodes of painful acute brachial plexus neuritis, although cranial and other spinal nerves have also been described as affected.6240
heredofamilial optic atrophy See Leber optic atrophy, optic atrophy, and Behr disease.
heredofamilial tremor A dominantly inherited condition in which the tremor is symmetric and affects the hands and arms first. See essential tremor.
abnormalities, hypotonia, microcephaly, seizures, cerebellar and pyramidal signs, cerebral atrophy, and neurodegenerative regression.381
condition characterized by inability to speak above a whisper except under strong heredofamilial tremor and emotion, often accompanied by involuntary epilepsy See familial cortical myoclonic movements.4903 tremor with epilepsy.
hereditary tyrosinemia
heredity (from Lat; inheritance) The laws heredopathia atactica whereby the characteristics of humans tend polyneuritiformis See Refsum disease
A recessively inherited deficiency of fumarylacetoacetate, an enzyme required in the final step of tyrosine metabolism. The disorder is manifest in infancy. The clinical features largely reflect the presence of slowly progressive hepatic failure and of a renal Fanconi syndrome; abrupt episodes of vomiting, painful peripheral neuropathy, muscle weakness, and self-mutilation are also described.4400
to repeat themselves in their descendants.
heredoakinesie paroxystique douloureuse A rare, familial disease
(hereditary motor and sensory neuropathy, type 4).
Hering, Heinrich Ewald
characterized by paroxysmal attacks of paralysis with severe limb pains. The condition was described by Koulkov in the early 1900s but seems to have disappeared.645
(1866–1948) Austrian physiologist at Cologne who is remembered for his identification of the nerve of the carotid sinus and his studies on respiratory reflexes. Henry Head and Bielschowsky were his pupils.
heredoataxic hemeralopic hereditary vascular retinopathy polyneuritis See hereditary motor and
Hering’s Law Each member of a yoked pair of ocular motor muscles must receive equal innervation, so that they move in
A dominantly inherited occlusive
sensory neuropathy, type 4.
Hering nerve
472
at the Ptolemaic school in Alexandria. Although he is credited with the first recorded descriptions of the brain, its membranes and sinuses, and noted the origin of motor and sensory nerves from the spinal Hering nerve A branch of the IX cranial cord, as well as many other anatomical and physiological facts, none of his works nerve, afferent from the carotid sinus, actually survive.1670 described by Hering in 1923. He considered that the brain was the organ of intelligence and the fourth ventricle the Herman Pallister Opitz seat of the soul (300 BC). The torcular syndrome A congenital syndrome Herophili (Gr, cellar) is the name given to the characterized by synostosis of the coronal confluence of the superior sagittal, straight suture, hypertelerism, severe mental retardation, facial dysmorphism, and skeletal and both transverse cerebral venous sinuses at the posterior edge of the tentorium, regarded deformities.2878 See also craniosynostosis by Herophilus as a reservoir of blood. parallel. While this is true in the normal state, small differences in innervation can occur in the presence of unilateral ocular muscle weakness.
hernia A swelling produced by the herpes (Gr, creeping) Hippocrates used protrusion of a viscus through an aperture in this word for a spreading skin eruption, the walls of the cavity which contains it. especially one which runs around the body. The word was subsequently used for many herniation 1. Abnormal protrusion of other forms of dermatosis. part of the brain (or of other structures such as intervertebral disks) outside their normal herpes simplex encephalitis A boundaries. Herniation of the cingulate necrotizing encephalitis with a particular gyrus across the mid-line below the falx, of predilection for the medial temporal and the brainstem vertically down through the inferior frontal lobes. It is the commonest tentorial opening, of the uncus down over cause of severe sporadic encephalitis in the the tentorial free edge, of the cerebellum Western world, affecting subjects at any age. upward, and of the cerebellar tonsils down Subjects presenting with behavioral and through the foramen magnum are examples personality changes, evidence of raised of the reaction of the brain as a whole to intracranial pressure, and meningism and major increases in intracranial pressure. The focal neurological signs, occurring central syndrome and the uncal syndrome subacutely or acutely, are usually treated are the most clinically important examples. with acyclovir without resorting to brain Lateral shift of the brainstem is, however, biopsy, the former standard for likely to be the factor causing most of the diagnosis.3118 Focal EEG changes and MRI clinical signs.2102 demonstration of uni- or bilateral edema 2. Protrusion, displacement, or extrusion deep in the temporal lobes are, in this of a fragment of disk material independent of context, strongly suggestive markers for the its relationship to the spinal ligaments or disease. nerve roots; that degree of disk herniation in which there is the extrusion of a fragment herpes viruses Viruses of the class from the disk space. See also disk prolapse include herpes simplex and zoster, the and disk protrusion. Epstein–Barr virus, and cytomegalovirus. heroin-induced leukoencephalopathy A progressive
herpes zoster (Gr, Creeping þ a
girdle) The clinical expression of infection spongiform leukoencephalopathy presenting with the herpes zoster virus. Infection may with varying degrees of lethargy, dysarthria, have no consequence or may lead, after a bradykinesia, and cerebellar dysfunction. period of latency, to inflammation of the Imaging studies indicate extensive white dorsal root ganglia or the ganglia on the matter damage shown to be due to vacuolar afferent cranial nerves, as described by Sir degeneration with axonal sparing. The cause is Henry Head in 1900. This is most inhalation of heated heroin vapor, a practice commonly manifest as pain, an erythematous known among addicts as ‘‘chasing the dragon.’’ vesicular rash next appearing within 3–4 days and leaving with either no residua or with skin atrophy and further longlasting pain. In Herophilus of Chaldecon (335–280 BC) A Greek physician, a teacher some cases, the virus attacks the anterior horn
cell pool at the same levels as it affects the posterior roots, causing wasting, weakness, and reflex loss at those segmental levels. Herpes was first described as an infectious condition by Landouzy in 1884. The term shingles derives from the Latin word cingulum, a belt, presumably referring to the distribution of the rash even though it is unilateral.
herpes zoster myelopathy The rare occurrence of transverse myelitis at the level of an herpetic infection of the dorsal root ganglia, causing motor and sensory long tract signs below that level and due to direct infection of the cord.2941
herpetic neuralgia Continuous aching, burning, or itching pains experienced during the eruption of the herpetic rash, sometimes with superimposed lancinating pains.5083 See also postherpetic neuralgia.
Herrick syndrome 1.A congenital dysmorphic syndrome manifesting also skeletal maldevelopments, microcephaly, seizures, spasticity, cerebral and cerebellar atrophy, hydrocephalus, and skin telangiectasia.2874 2. (Dresbach disease, sickle-cell anemia) Chorioretinal disease, retinal venous thrombosis, and secondary glaucoma, occurring in patients with sicklecell disease.2874
Herrmann disease A dominantly inherited syndrome characterized by photomyoclonus, deafness, diabetes, and nephropathy, and, in some cases, progressive cerebral neuronal degeneration with periodic acid-Schiff positive glycolipid storage.2876 Seizures, dementia, nystagmus, and pyramidal and cerebellar signs are also described in such cases.
Herrmann–Opitz syndrome See craniosynostosis.
Hers disease A condition in which glycogen accumulates in tissues due to lack of hepatic phosphorylase; hepatosplenomegaly, hypoglycemic attacks, mild ketosis, and retardation of growth are the main clinical features.2879 See glycogen storage disease type 6. Dr. H.G. Hers is a Belgian biochemist.
Hersh syndrome A congenital dysmorphic syndrome manifesting also
heterotopia
473
sensorineural deafness, retinitis pigmentosa with visual impairment, strabismus, nystagmus, and mental and developmental delay.
Hertwig–Magendie syndrome
heterogeneous system degeneration See Steele–Richardson– Olszewski syndrome.
heteromodal (polymodal) association areas Cortical regions
which are not devoted to any single modality and which receive convergent input from several sensory association areas and from Hertz (Hz) Units of frequency, equivalent limbic–paralimbic areas. The prefrontal to cycles per second. cortex, posterior parietal cortex, and inferior temporal lobe are examples.4332 Heschl, Richard L. (1824–1881) Austrian physician who became, in heteronymous hemianopia succession, professor of anatomy at Olmutz, Binasal or bitemporal hemianopia. cf. of pathology at Krakau, and of clinical homonymous hemianopia. medicine at Graz. See skew deviation.
heteronymous reflexes Reflex contractions of muscles not supplied directly The gyri immediately behind the insula on by the nerve stimulated (on the same or the opposite side) as a result of facilitation of the mesial and superior aspect of the transmission in interneuronal pathways superior temporal gyrus, thought to be concerned with the elaboration of auditory coactivated by group I and group II afferents, and due to alterations in suprasegmental sensation. control. An example is contraction of the biceps brachii in response to stimulation of Hess, Walter Rudolf (1881–1973) the median nerve in the cubital fossa. The Swiss physiologist who studied the control of phenomenon is relevant in the control of autonomic system functioning. For this posture and balance.4377 work he was awarded the Nobel Prize in 1949. heterophoria That condition in which both globes are directed normally during hetero- (Gr, different. The other one of fixation upon near or far objects, but one or two) Prefix denoting different. both deviate when one eye is occluded and the other eye fixates. Thus, a latent tendency heterochromia iridis (Gr, different for deviation of the eyes. See also cover test and phoria. þ color þ irises) (heteroglaucos) An alteration in the color and structure of the iris; in which the color of all or a part of one heterotopia (Gr, different þ position) iris differs from that of the other, associated (ectopia) Misplacement of a part of the body with hypo- or hyperplasia of the iris. The during development. Within the nervous color change may be complete or partial and system, the occurrence of cortical cells in uni- or bilateral. places other than the cortex as a consequence Simple heterochromia is thought to be due to of arrest of normal neuronal migration during genetic mosaicism, complicated heterochromia embryogenesis—thus malformations due to to ocular disease, and sympathetic heterochromia abnormal neuronal migration. to damage to the superior cervical ganglion Subependymal, subcortical, and band at birth. Although many other diseases have heterotopia (double cortex) are distinguished. been reported as occurring in association In all cases, the diagnosis is made best with (Gladstone2399 references 77 such), the MRI.5214 Most commonly, islands of gray condition itself is of no pathological matter are found in the subcortical white significance and the simple form is by far the matter. Both X-linked dominant and most common; anxious parents may be autosomal recessive forms are described. reassured that it was manifested by With subependymal (periventricular) Alexander the Great. However, deafness has heterotopias, the presentation is likely to be been described in association.381 with temporal or occipital lobe-type seizures in the first two decades of life. Bilateral See also Waardenburg syndrome and nodular periventricular heterotopia Horner syndrome. Heschl gyri (transverse temporal gyri)
(subependymal heterotopia) is an error of neuronal migration in which subependymal clumps of gray matter protrude into the lumen of the ventricles; it is sometimes associated with cerebellar hypoplasia or with other disorders of CNS development such as the Chiari malformation, frontonasal dysplasia, and gastrointestinal and renal anomalies. Mental retardation is common but seizures are the main manifestation. The condition appears to be lethal in males and is seen almost exclusively in females. It is mapped to Xq28, but autosomal linkage is also described. In a variant form, also mapped to Xq28, these features are accompanied by seizures, mental retardation, and partial syndactyly in the hands and feet. See also Zellweger syndrome. Band heterotopia (double cortex syndrome) is characterized by the presence of a demarcated layer of neurons in the white matter, where they are arrested during migration to their cortical sites. Mutations at 17p13.3 or Xq22.3–q23 are sometimes found. Mental and developmental delay and partial or generalized seizures are the usual clinical accompaniments, other seizure types appearing in due course.402 A major review has been published,404 and a classification of heterotopia proposed Heterotopia 1. Subependymal (periventricular) heterotopia a. Periventricular nodular heterotopia (PNH) i. Bilateral PNH with FLN1 mutations ii. Other PNH iii. PNH with abnormal overlying cortex b. Periventricular laminar/ribbon heterotopia 2. Subcortical heterotopia (other than band heterotopia)
a. Large subcortical heterotopia with abnormal cortex and hypogenetic corpus callosum b. Single subcortical heterotopic nodule c. Excessive single neurons in white matter 3. Marginal glioneuronal heterotopia. From Barkovich AJ, Kuzniecky R, Jackson GG, et al. Classification system for malformations of cortical development. Neurology
heterotropia
474
2001;57:2168–78. Reproduced by kind permission given in Chart H–11. (Reproduced with of the American Academy of Neurology and kind permission of the American Academy Lippincott Williams and Wilkins. of Neurology and Lippincott Williams and
See also microcephaly, megalencephaly, lissencephaly, cobblestone complex, and poilymicrogyria.
heterotropia (tropia) Eye deviations manifest during binocular vision. Esotropia indicates the adduction and exotropia the abduction of one eye. See also strabismus, cover test, and heterophoria.
heterotypic granular cortex Those regions of visual, auditory, or general sensory neocortex where the usual six layers are ill-defined because small stellate cells overflow into the second and fifth layers.
Heubner, Otto Johann Leonhard (1843–1926) German pediatrician, professor of medicine at Leipzig. He demonstrated the presence of a leptomeningeal anastomotic circulation in 1874.
Heubner arteritis See Heubner disease.
Heubner disease (Heubner arteritis) Syphilitic arteritis of the cerebral vessels, described by Heubner in 1874. Heubner endarteritis See
Wilkins.) Ataxia, excessive startle responses, dementia, seizures, involuntary movements, pyramidal signs, and cherry-red spots on the retina are recorded variously in these conditions, and phenotypes resembling amyotrophic lateral sclerosis or hereditary motor neuropathy type 3 also represent expressions of hexosaminidase deficiency.3236 See also cerebellar ataxias. Chronic hexosaminidase A and B deficiency is a variant condition in which progressive dystonia and pyramidal and cerebellar signs occur during childhood.2451
This uncommon syndrome is described in infants and young children following acute unilateral cerebral lesions2304 such as tumor or herpetic encephalitis, or after febrile seizures.
HHH syndrome 1. (Hyperornithemia, Hyperammonemia, Homocitrullinemia syndrome) See ornithinemia. 2. (hemiparesis, hemiatrophy and hemiathetosis) A dominantly inherited nonprogressive athetotic hemiplegic syndrome.2656
HHHO syndrome (Hypotonia, Hypomentia, Hypogonadism, Obesity syndrome) See Prader–Willi syndrome.
hiccoughs (hiccups, singultus) Intermittent, rhythmic, chronic, spasmodic contractions of the diaphragm hemiplegia, epilepsy syndrome; acute accompanied by similar contractions of acquired postconvulsive hemiplegia, the accessory muscles of respiration. The Gastaut syndrome) An epileptic syndrome sudden inspiration is terminated almost characterized by persistent unilateral immediately by abrupt closure of the clonic motor seizures in the limbs and glottis, producing the audible sound. The face, accompanied by high-voltage delta cause may lie in structural or functional activity and spikes on the EEG and followed by flaccid hemiplegia lasting over a disorders of the medulla affecting the region of the vagal nuclei and the nucleus week, with suppression of EEG activity on tractus solitarius, or in damage to the the appropriate side. In three-quarters of vagi or to the afferent or efferent nerves all cases, complex partial clonic or other of the respiratory muscles. seizures begin, usually within 2 years. The functional utility of this involuntary Most affected children have evidence of respiratory reflex has not been determined. intellectual failure.
HHE Syndrome (hemiconvulsions,
endarteritis obliterans. Chart H–11. Hexosaminidase Deficiency Phentotypes
Heubner recurrent artery An early branch of the anterior cerebral artery, supplying the superior and anterior part of the internal capsule.
Infantile encephalopathies Alpha locus Beta locus Activator locus
Tay–Sachs disease and variant Sandhoff disease and variants AB variant
Heubner–Mo¨bius syndrome See
Late infantile/juvenile Alpha locus Beta locus
Juvenile Tay–Sachs disease and variant Juvenile Sandhoff disease
Cerebellar ataxia Alpha locus Beta locus
Atypical spinocerebellar ataxia Juvenile ataxia (Ramsay Hunt phenocopy)
Mo¨bius syndrome.
hexosaminidase deficiency Inherited deficiencies of -D-N-acetylhexosaminidase, leading to the abnormal accumulation of gangliosides and related substances within neurons. See also GM2 gangliosidosis. The hexosaminidase isoenzymes (A, B, and S) are part of a complex system metabolizing GM2 gangliosides and related substances; when they fail, the gangliosides accumulate within the nervous system. The B form of the enzyme is coded for on chromosome 5. The numerous phenotypes have been defined by Johnson3236 and are
Motor neuron diseases Alpha locus
Amyotrophic lateral sclerosis phenocopy Hereditary motor neuropathy, type 3 phenocopy
Adult-onset encephalopathy Activator locus
Adult GM2 gangliosidosis
Asymptomatic or presymptomatic adults Alpha locus Beta locus
Total or near-total hexosaminidase deficiency Hexosaminidase A and B or B deficiency
Adapted from Johnson WG. The clinical spectrum of hexosaminidase deficiency diseases. Neurology 1981;31:1453–6 with new material.
Hilton’s law
475
In 1883, Short first recognized the relationship between hiccoughs and phrenic nerve irritation. The condition is usually self-limiting but in protracted cases, Hippocrates advised apnea, which is sound because an increase in the arterial carbon dioxide tension does have an inhibitory effect. Over 100 other therapies have been suggested, including digital or chemical stimulation of the pharynx; ocular compression; prayers to St. Jude; phrenic crush; and drugs such as phenothiazines, demerol, metoclopramide, carbamazepine, nifedipine, meperidine, quinidine, and orphenadrine; and digital rectal massage, recalling the comment of Dr. Charles Mayo: ‘‘The amount of knowledge on any subject such as this can be considered as being in inverse proportion to the number of different treatments suggested and tried for it.’’4225
hiccups See hiccoughs. Hicks disease See hereditary sensory and autonomic neuropathy type 1.
Hidden Figures Test (Gollin Test)
high-altitude headache (hypoxic headache, altitudinal headache) Headache is a major symptom of acute mountain sickness (AMS), developing within 24 h after ascent to above 3000 m. It is associated with at least one other symptom typical of AMS including Cheyne–Stokes respirations at night, a desire to overbreathe and exertional dyspnea. Nausea, anorexia, fatigue, dizziness, and sleep disorders are typical accompanying symptoms. Diagnostic criteria have been defined5831, 2820 A. Headache with at least two of the following characteristics and fulfilling criteria C and D: 1. 2. 3. 4. 5.
Bilateral Frontal or frontotemporal Dull or pressing quality Mild or moderate intensity Aggravated by exertion, movement, straining, coughing, or bending
B. Ascent to altitude above 2500 m C. Headache develops within 24 h after ascent D. Headache resolves within 8 h after descent
A figure-matching task testing visuoperceptual functions, in which the stimuli to be matched are embedded in more complex figures. Like other similar tests, it is sensitive to damage localized to the parietal cortex.2521
From the ICHD (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.
hidrotic ectodermal dysplasia
high-density lipoprotein deficiency See Tangier disease.
A familial syndrome comprising cataract, hyperpigmentation of the skin with telangiectasias, hyperkeratosis, and nail dystrophy. See also neurocutaneous syndromes and Clouston disease.
See also acute mountain sickness.
high-frequency filter A circuit which reduces the sensitivity of the EEG channel to relatively high frequencies. For each position of the high-frequency filter control, this high-altitude cerebral edema attenuation is expressed as a percent (HACE) A vasogenic encephalopathy due reduction in output pen deflection at a given to low ambient partial pressures of oxygen, frequency, relative to frequencies unaffected by the filter, i.e in the mid-frequency band presenting with altered sensorium, ataxia, of the channel. headache, retinopathy, and cognitive At present, high-frequency filter impairments. MRI scans show intense T2 designations and their significance are not signals in the white matter and reversible vasogenic edema with a predilection for the standardized for instruments of different manufacture. For instance, for a given splenium of the corpus callosum. Lacunar instrument, a position of the high-frequency infarcts and cerebral venous sinus filter control designated at 35 Hz may thrombosis are other complications. indicate a 30% (3 Db), or other stated This potentially fatal condition is percentage reduction, in sensitivity at 35 Hz considered to be due to movement of fluid compared to the sensitivity, for example at and protein out of the vascular 10 Hz. (Adapted from the 1974 report of the compartment.2667
Committee on Terminology, IFCN. In: Chatrian GE, Bergamini L, Dondey M, et al. A glossary of terms most commonly used by clinical electroencephalographers. EEG Clin Neurophysiol 1974;37:538–48. Reproduced with kind permission from Elsevier Science.)
high-frequency response The sensitivity of an EEG channel to relatively high frequencies, determined by the highfrequency responses of the amplifier–writer combination and of the filter used and expressed as a percentage reduction in the output pen deflection at certain specific high frequencies, relative to other frequencies in the mid-frequency band of the channel. (Adapted from the 1974 report of the Committee on Terminology, IFCN. In: Chatrian GE, Bergamini L, Dondey M, et al. A glossary of terms most commonly used by clinical electroencephalographers. EEG Clin Neurophysiol 1974;37:538–48. Reproduced with kind permission from Elsevier Science.) high median neuropathy See pronator syndrome.
Hilger syndrome See carotidynia. hill of vision A three-dimensional representation of visual acuity in which the horizontal and vertical parameters representing the dimensions of visual space are joined by another representing the differential sensitivity to light of different parts of the retina. The fovea is most sensitive, and it would be shown as forming the summit of the hill, slightly removed from the bottomless crater, which is the optic nerve head or blind spot. Hillig syndrome A congenital dysmorphic syndrome manifesting also hepatosplenomegaly, skeletal maldevelopments, macrocephaly, and mental and developmental delay.381
Hill-Lowenberg syndrome See Pelizaeus–Merzbacher disease.
Hilton, John (1804–1878) English anatomist, surgeon to Guy’s Hospital, London and sometime president of the Royal College of Surgeons. He described his law in his famous book Rest and Pain (London: Bell, 1863).
Hilton’s law ‘‘The same trunks of nerves whose branches supply the groups of muscles
hindbrain
476
moving a joint, furnish also a distribution of hippocampal sclerosis Severe nerves to the skin over the insertions of the neuronal loss and gliosis of the hippocampal same muscles . . . and the interior of the joint.’’ CA1 sector and subiculum, uni-or bilaterally; a major cause of partial seizures, arising as a developmental defect or due to hindbrain That part of the developing febrile seizures in childhood or in association brain which separates into the medulla with various forms of dementia in adult life. oblongata and the cerebellum and which contains the fourth ventricle.
hippocampal theta activity Hines, Edgar Alphonso, Jr. (b. 1906) Physician at the Mayo Clinic, the originator (with Dr. G.E. Brown) of the cold pressor test in 1932.
Hippel, Eugen von (1867–1939)
Regular, high-amplitude waves recorded by subcortical electrodes during rapid eye movement during sleep and wakefulness in animals and occasionally in man.2255
hippocampus (Gr, a horse and Lat, a field or racetrack) A curved cell mass with distinct zones lying in the inferomesial part of the temporal lobe, covered by the gyrus of the same name; a way-point on the pathways for smell, emotion, and memory.
German ophthalmologist who trained in Heidelberg and Go¨ttingen, studied further with Leber, and later became professor at Halle and then Go¨ttingen. Apart from describing the syndrome named for him, he published on numerous eye deformities, cataract, optic nerve lesions, and sympathetic hip-pocket sciatica (neuropathy) Alleged irritation of the ophthalmia. sciatic nerve as a result of carrying a wallet in the back pocket of the trousers. A more likely diagnosis is piriformis syndrome. The condition is likely to be more prevalent during times of high inflation.
Hippocrates (460–370 BC) Greek physician from the island of Cos in the Aegean; the Father of Medicine. The Hippocratic writings are almost certainly a collection of manuscripts by a number of authors, though presumably based on his books. It is said that Hippocrates taught beneath a sycamore tree (Plantanus orientalis) that stands to this day on Cos; scions of this tree populate many medical campuses (HJM). Hippocrates described numerous neurological conditions as well as some Figure H–4 Eugen von Hippel. neuroanatomy, based in part upon dissections performed on goats as well as man. He identified thought, intelligence, hippocampal (and and dreams as functions of the brain but also parahippocampal) seizures considered that it changed pneuma into Seizures arising from the insula, amygdala, animal spirits and excreted the residua. hypothalamus, or other limbic structures Diseases identified by him included both and depending upon local spread for their focal and generalized tonic–clonic seizures, clinical manifestations. Symptoms include a pupillary inequality, nerve palsies, sensation of epigastric rising, emotional ophthalmoplegia, myelopathy, apoplexy experiences (usually intense fear), (including both subarachnoid and dysmnesias, focal sensory seizures with intracerebral hemorrhages), mental olfactory or gustatory symptoms, and disorders, and aphasia. His comment that paresthesias or other bilateral sensory epilepsy was not any more sacred than other phenomena.1861 diseases was ignored for the next 2000 years.
Hippocrates phrenitis An acute, febrile, fatal syndrome consisting of severe nausea and vomiting, acute cachexia, profound mental confusion, and intense generalized motor agitation. Hippocrates also included under Phrenitis other causes such as malaria, typhoid, and alcoholic crises. The term was derived from the belief that the diaphragm was the organ of mind, so in delirium (which is what Hippocrates was describing in the cases he reported with the diagnosis of phrenitis) there must be irritation of the diaphragm.6380 The actual condition may have been encephalitis.
hippus (from Gr, hippos-continual winking) Physiological oscillation of the size of the pupils. The irregular pupillary constriction and dilatation occur continuously in dim, diffuse lighting with a cycle time of 660 ms or longer and is of variable amplitude. The phenomenon is normal but its cause is not known. Hirano bodies Eosinophilic cylindrical structures up to 30 mm long, containing filaments derived from cytoskeletal proteins and found within the cytoplasm of hippocampal neurons in relation to advancing age, but with increased frequency in patients with numerous dementing and degenerative diseases, including Alzheimer and Pick diseases, kuru, and amyotrophic lateral sclerosis. Dr. Asao Hirano is a contemporary American neuropathologist. Hirayama disease (juvenile muscular atrophy of the distal upper limb[s]) A rare cervical myelopathy described mainly in young Japanese males who present with distal weakness and wasting, usually of only one arm, initially progressive and then static after years.2916 Cold paresis and postural tremor are also described. Ischemic changes in the anterior horns of the cervical cord indicate that this is a cervical ischemic poliomyelopathy between C6 and T1, which appears to be induced by neck flexion. Nerve conduction studies are normal except for decrease in the CMAP in affected muscles. See also Marie–Foix disease. Requirements for the diagnosis are as follows:6217 1. Distally dominant muscle weakness and atrophy of the forearm and hand 2. Onset between the ages of 10 and early 20s 3. Unilateral or unilaterally dominant symptoms and signs
Hitzig, Eduard
477 4. Insidious onset with gradual progression for the first several years, followed by arrest of progression 5. Lack of sensory disturbance and reflex abnormalities; no symptoms or findings in the legs 6. Other diseases of the cervical cord are excluded.
microcephaly, cerebellar signs, and mental and developmental delay.381
His, Wilhelm (1831–1904) Swiss
History of Neurosurgery A Web site that provides historical data and access to the Cyber Museum of Neurosurgery, found at http://www.neurosurgery.org/cybermuseum/ index.html/.
anatomist from Basel, a student of Remak. He originated the terms dendrite, neuropil, neuroblast, and spongioblast. His main interest histrionic palsy A synonym for Bell was the embryogenesis of the nervous palsy, so known in the nineteenth century on Although this entry is the definitive one, system. account of the resultant loss of the power of this condition might have a genetic basis and facial expression. is therefore also included under hereditary histamine flare test The motor neuropathy above. subcutaneous injection of 0.1 ml of a 1:1000 See also lower motor neuron disease. solution of histamine acid phosphate, with Hittner syndrome A congenital assessment of the area of erythema (the flare) dysmorphic syndrome manifesting also Hirano Parkinsonism-dementia produced through local axon reflexes. Once deafness, microphthalmia, retinal and iris used for localization of the site of a sensory colobomas, and mental and developmental See Lytico–Bodig. 381 nerve lesion (normal flare size with proximal delay. radicular lesions; reduced flare size with Hirano–Kurland–Sayre distal plexus or other lesions), it has been combined neurological Hitselberg sign Hypoesthesia of the posterior wall of the external auditory degeneration A dominantly inherited largely supplanted by nerve conduction studies. meatus as a result of a proximal lesion disease resembling amyotrophic lateral affecting the VII cranial nerve (which is not sclerosis but with the added features of histaminic cephalgia See cluster purely a motor nerve). degeneration of the posterior columns, spinocerebellar tracts, and Clarke’s column headache. Horton incriminated histamine in the pathogenesis of this condition in part and the presence of intracytoplasmic Hitzig, Eduard (1838–1907) German argyrophilic inclusions (Lewy bodies) in the because of the provocative role of histamine neuropsychiatrist, eventually professor of 2911 in precipitation of the attack. He has still not anterior horn cells. psychiatry at Zurich and later at Halle. been proved right or wrong. He described girdle zones and, by animal Hirano–Lewy body disease See experiments performed in his home during histidinemia A recessively inherited amyotrophic lateral sclerosis and Hirano– 1870–1874 in conjunction with Fritsch, syndrome resulting from a deficiency of Kurland–Sayre combined neurological a zoologist, defined the extent of the motor l-histidase and characterized clinically by degeneration. motor and behavioral delay in some cases.5697 areas in primates using electrical stimulation of the cortex.
Hirayama juvenile muscular atrophy See various entries under
histiocytosis (systemic histiocytosis, Erdheim–Chester disease) A rare systemic hereditary motor neuropathy type 3 disorder seen mainly in males with onset in later adult life, characterized by fever, Hirschberg sign See adductor reflex of cardiovascular and dermal features, metaphyseal cortical thickening of the long the foot. bones, and hypothalamic or orbital infiltration, the former associated with Hirschsprung Disease A disorder 5923 characterized by absence of ganglion cells diabetes insipidus. in the intestine. The condition is most histiocytosis X See generalized commonly seen in males and usually presents with constipation in the first 3 xanthomatosis. months of life. In three quarters of the histoplamosis Infection by this cases the involvement is limited to the dimorphic fungus, usually presenting as rectosigmoid region. The condition is pulmonary infiltrations but able to sometimes associated with Down disseminate in immunocompromised syndrome, neurofibromatosis or people, in which case meningoencephalitis neuroblastoma.1821 Harald Hirschprung (1830–1916) was a Danish pediatrician at is a potential complication. Copenhagen. A variant is Hirschsprung (cleft palate, History of Neuroscience A listing mental retardation) syndrome, a congenital of milestones in the advancement of dysmorphic syndrome manifesting also neurology, compiled by Dr. Eric H. Chudler speech delay, Hirschprung syndrome, of the University of Washington.
Figure H–5 Eduard Hitzig.
Hitzig girdle (zone)
478
Hitzig girdle (zone) Analgesia in the Guillain–Barre´ Syndrome) A neuropathic syndrome resembling acute inflammatory demyelinating polyneuropathy complicating HIV infection. The following HIV encephalopathy See HIV-1-associated nervous system diseases. diagnostic criteria have been suggested. (From American Academy of Neurology AIDS task force. Nomenclature and case HIV meningoencephalitis (giant definitions for neurological manifestations of cell encephalitis, multinucleated cell encephalitis, subacute encephalitis) The acute HIV type 1 infection. Neurology;43:625–7. Reproduced by kind permission of the form is an uncommon complication American Academy of Neurology and occurring early in the course of HIV Lippincott Williams and Wilkins.) infection and characterized by altered consciousness, seizures, mental dysfunction, Probable Patients must have 1. Guillain– evidence of inflammation in the CSF and Barre´ syndrome by previously published diffuse changes on the EEG, leading on to criteria except that the CSF cell count can be as high as 50 cells/mm3. ultimate recovery from the acute illness. Possible Patients must have one of the The chronic form (chronic HIV meningitis) following: is a frequent complication of HIV infection, occurring often prior to the appearance of 1. Other potential etiology present (must AIDS and (if symptomatic at all) have each of the following): characterized by headache and mild a. As above No. 1. meningeal signs, cranial neuropathies, and b. Other potential etiology is present 2071 chronic inflammatory changes in the CSF. and the cause of No. 1 is uncertain. T3–T6 regions in early tabes dorsalis.5704
HIV myelopathy See HIV-associated myelopathy.
HIV myopathy A proximal myopathy complicating human immunodeficiency virus type 1 (HIV) infection or (less often) its treatment with zidovudine, characterized by weakness, elevated serum creatine kinase levels and muscle biopsy appearances of myofiber degeneration, variable inflammatory infiltrates, inclusion bodies, and mitochondrial abnormalities.6883
HIV neuropathy See HIV-associated multiple mononeuropathy, HIV-associated progressive polyneuropathy, HIV-associated autonomic neuropathy, HIV-associated predominantly sensory neuropathy, HIV-associated acute inflammatory demyelinating polyneuropathy, and HIV-associated lumbosacral polyradiculopathy. Radiculopathies (cytomegalovirus, herpes zoster), vasculitic neuropathy, lymphomatous neuropathy, and forms associated with drug therapy are also described in patients with HIV infections. HIV wasting disease See HIV-associated myopathy.
HIV-associated acute inflammatory demyelinating polyneuropathy (HIV-1-associated
2. Incomplete clinical evaluation (patients must have each of the following): a. As above No. 1. b. Etiology cannot be determined (appropriate laboratory investigations not performed).
but reversible cauda equina syndrome manifesting bilateral leg weakness, areflexia, and loss of sphincter function with rapid progression of the paraplegia over days. A mononuclear pleocytosis is notable in the CSF. Although cytomegalovirus infection is a common cause, lymphoma, toxoplasmosis, and syphilis can produce the same syndrome.5937
HIV/AIDS headache Diagnostic criteria have been defined in the ICHD.2820 Essentially, in a person with confirmed HIV infection the headache has variable modes of onset, site, and intensity, develops in close temporal relation to the HIV/AIDS-related pathophysiology, and resolves within 3 months after the infection subsides. HIV-associated leukoencephalopathy (progressive diffuse encephalopathy) A syndrome characterized by diffuse damage to the cerebral white matter with loss of myelin and reactive astrogliosis, and presenting in the same way as progressive multifocal leukoencephalopathy but with a particular tendency to cause dementia.4199
HIV-associated multiple mononeuropathy A multifocal
sensory axonal inflammatory neuropathy presenting rarely with multiple sensory complaints, often in association with fever, with headache, meningism, cranial cachexia, and cytomegalovirus retinopathy, neuropathies, and fever occurring at the time within the context of HIV infection.5858 of seroconversion (AIDS-related complex), reflecting the initial response of the nervous HIV-associated myelopathy system to the infection. The CSF shows a (vacuolar myelopathy, HIV myelopathy) monocytic pleocytosis.4200 A vacuolar myelopathy presenting with a
HIV-associated aseptic meningitis An acute aseptic meningitis
syndrome of motor and sensory deficits characteristic of spinal cord disease and due to direct infection of the cord with HIV. It is autonomic symptoms as fainting due to found to occur in a quarter of all patients orthostatic hypotension, cardiac irregularities, dying from AIDS.5004, 2071 Gait hypohidrosis, impotence, diarrhea, and disturbance, leg weakness, and urinary urinary dysfunction occurring in patients incontinence are the major clinical features. suffering the later stages of HIV infection. Diagnostic criteria have been suggested by Whether it is the disease or its treatment the AAN Task Force and are given in Chart which is responsible is not yet determined.5858 H–14. (Reproduced by kind permission of the American Academy of Neurology and HIV-associated cognitive/ Lippincott Williams and Wilkins.) motor complex See HIV-associated neurocognitive disorders. HIV-associated myopathy (HIV wasting disease) A myopathic syndrome HIV-associated lumbosacral complicating HIV infection.5857 Diagnostic polyradiculopathy (cytomegalovirus criteria have been suggested and are given in Chart H–15. polyradiculitis, myeloradiculitis) A severe
HIV-associated autonomic neuropathy The occurrence of such
HIV-associated myopathy
479
Chart H–12. Diagnostic Criteria for HIV-Associated Myelopathy Probable (must have each of the following): 1. Acquired abnormality in lower-extremity neurological function disproportionate to upper-extremity abnormality, verified by reliable history of lower-extremity weakness, incoordination and/or urinary incontinence and neurological examination (paraparesis, lower extremity spasticity, hyperreflexia or the presence of Babinski sings, with or without sensory loss). 2. Disturbance in No. 1 is severe enough to require constant unilateral support for walking. 3. Although mild cognitive impairment may be present, criteria for HIV-1-associated dementia complex are not fulfilled. 4. Evidence of another etiology, including neoplasm, compressive lesion or multiple sclerosis, must be sought from history, physical examination, and appropriate laboratory and radiological investigation (e.g., lumbar puncture, neuroimaging, myelography). If another potential etiology is present, it is not the cause of the myelopathy. This diagnosis cannot be made in a patient infected with both HIV-1 and HTLV-1; such a patient should be classified as having possible HIV-1 associated myelopathy. Possible (must have one of the following): 1. Other potential etiology present (must have each of the following): a. As above Nos. 1, 2, and 3. 2. Incomplete clinical evaluation (must have each of the following): a. As above Nos. 1, 2, and 3. b. Etiology cannotbe determined (appropriate laboratory or radiological investigations not performed). From American Academy of Neurology AIDS task force. Nomenclature and case definitions for neurological manifestations of HIV type 1 infection. Neurology 43:625–7. Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
Chart H–13. Diagnostic Criteria for HIV-Associated Myopathy Probable (must have each of the following): 1. Symptoms of proximal lower- and/or upper-extremity weakness, documented by physical examination. 2. No other etiology (including toxic exposure to zidovudine). EMG and muscle biopsy may be necessary to rule out certain other etiologies. Possible (must have one of the following): 1. Other potential etiology present (must have each of the following): a. As above No. 1. b. Other potential etiology is present and the cause is uncertain. 2. Incomplete clinical evaluation (must have each of the following): a. As above No. 1. b. Etiology can not be determined (appropriate laboratory investigations not performed). From American Academy of Neurology AIDS task force. Nomenclature and case definitions for neurological manifestations of HIV type 1 infection. Neurology 43:625–7. Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
Chart H–14. The HIV-Associated Nervous System Diseases HIV-associated cognitive motor complex. 1. Severe manifestations HIV-associated dementia complex. Acute HIV meningoencephalitis. HIV-associated myelopathy. HIV associated leukoencephalopathy Opportunistic infections (toxoplasmosis, cryptococcosis, cytomegalovirus encephalitis, primary CNS lymphoma, progressive multifocal leukoencephalopathy, and mycobacterial infections). 2. Mild manifestations HIV-1 associated minor cognitive-motor disorder. HIV-1 associated neurocognitive disorder. HIV-1 associated neurobehavioral abnormalities. HIV-associated acute inflammatory demyelinating polyneuropathy. HIV-associated autonomic neuropathy. HIV-associated multiple mononeuropathy. HIV-associated myopathy. HIV-associated predominantly sensory neuropathy. HIV-associated progressive encephalopathy of childhood. HIV-associated progressive polyneuropathy.
HIV-associated nervous system diseases
480
Chart H–15. HIV-Associated Asymptomatic Neurocognitive Impairment (ANI) 1. Acquired impairment in cognitive functioning, involving at least two ability domains, documented by performance of at least 1 SD below the mean for age-education-appropriate norms on standardized neuropsychological tests. The neuropsychological assessment must survey at least the following abilities: verbal/language; attention/working memory; abstraction/executive; memory (learning; recall); speed of information processing; and sensory-perceptual, motor skills 2. The cognitive impairment does not interfere with everyday functioning 3. The cognitive impairment does not meet criteria for delirium or dementia 4. There is no evidence of another pre-existing cause for the ANI. If there is a prior diagnosis of ANI, but currently the individual does not meet criteria, the diagnosis of ANI in remission can be made. If the individual with suspected ANI also satisfies criteria for a major depressive episode or substance dependence, the diagnosis of ANI should be deferred to a subsequent examination conducted at a time when the major depression has remitted or at least 1 month after cessation of substance use. From J Infect Dis 1988;158:1079–83. Price RW, Brew BJ. The AIDS-Dementia complex. Reproduced by kind permission of the Univ. Chicago Press.
the American Academy of Neurology and HIV-associated nervous system common neurological manifestation of AIDS, present in up to 75% of those affected Lippincott Williams and Wilkins. diseases The complex of disorders 2071
with the disease. Clinically, it presents with insidious mental slowing with impaired concentration, memory loss, depression, loss of libido, social withdrawal, and mild motor deficits (unsteady gait, leg weakness, tremor) with frontal release signs, advancing to a state of apathy, abulia, mutism, and profound mental failure.4200 All of the following diagnoses require laboratory evidence for confirmation of systemic HIV-1 infection; (enzyme-linked immunosorbent assay confirmed by Western blot, by polymerase HIV-associated neurocognitive chain reaction, or by culture). Various diagnostic criteria have been suggested;5119 disorders (HAND, HIV-1-associated those in the following entries are the dementia complex, chronic AIDS revised research criteria for encephalopathy, AIDS-dementia complex, HIV-associated neurocognitive disorders AIDS-related dementia, subacute encephalitis) A group of dementing or motor (HAND) modified from HIV system disorders due to primary infection of Neurobehavioral Research Center criteria.210 and are reproduced by kind permission of the nervous system by the HIV; the most affecting the nervous system in patients with clinical expression of HIV infection. The conditions are listed in Chart H–16. The syndromes of amyotrophic lateral sclerosis and of pure sensory neuropathy may also be related to HIV infection. Malignancies of the CNS (primary CNS lymphoma, Kaposi sarcoma) and opportunistic infections (toxoplasma, viruses, fungi, bacteria) are other complications.2071
HIV dementia generally, but not invariably, progresses over weeks, months, or years to severe global dementia, mutism, and death.172
HIV-associated predominantly sensory neuropathy (distal symmetrical polyneuropathy) A painful axonal neuropathy, the most common peripheral neuropathy in patients with HIV infection. Diagnostic criteria are listed in Chart H–17. A similar neuropathy occurs in this context as a result of exposure to neurotoxins or Vitamin B12 deficiency.
HIV-associated progressive encephalopathy of childhood A dementing syndrome complicating HIV infection in children. The major clinical features include loss of developmental
Chart H–16a. HIV-1-Associated Mild Neurocognitive Disorder (MND) 1. Acquired impairment in cognitive functioning, involving at least two ability domains, documented by performance of at least 1 SD below the mean for age-education-appropriate norms on standardized neuropsychological tests. The neuropsychological assessment must survey at least the following abilities: verbal/language; attention/working memory; abstraction/executive; memory (learning; recall); speed of information processing; and sensory-perceptual, motor skills. Typically, this would correspond to an MSK scale stage of 0.5–1.0. 2. The cognitive impairment produces at least mild interference in daily functioning (at least one of the following): a. Self-report of reduced mental acuity, inefficiency in work, homemaking, or social functioning. b. Observation by knowledgeable others that the individual has undergone at least mild decline in mental acuity with resultant inefficiency in work, homemaking, or social functioning. 3. The cognitive impairment does not meet criteria for delirium or dementia. 4. There is no evidence of another pre-existing cause for the MND! If there is a prior diagnosis of MND, but currently the individual does not meet criteria, the diagnosis of MND in remission can be made. If the individual with suspected MND also satisfies criteria for a severe episode of major depression with significant functional limitations or psychotic features, or substance dependence, the diagnosis of MND should be deferred to a subsequent examination conducted at a time when the major depression has remitted or at least 1 month after cessation of substance use. From J Infect Dis 1988;158:1079–83. Price RW, Brew BJ. The AIDS-Dementia complex. Reproduced by kind permission of the Univ. Chicago Press.
HIV-1-associated Guillain–Barre´ syndrome
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Chart H–16b. HIV-1-Associated Dementia (HAD) 1. Marked acquired impairment in cognitive functioning, involving at least two ability domains; typically the impairment is in multiple domains, especially in learning of new information, slowed information processing, and defective attention/concentration. The cognitive impairment must be ascertained by neuropsychological testing with at least two domains 2 SD or greater than demographically corrected means. (Note that where neuropsychological testing is not available, standard neurological evaluation and simple bedside testing may be used, but this should be done as indicated in algorithm; see below.) Typically, this would correspond to an MSK scale stage of 2.0 or greater. 2. The cognitive impairment produces marked interference with day-to-day functioning (work, home life, social activities). 3. The pattern of cognitive impairment does not meet criteria for delirium (e.g., clouding of consciousness is not a prominent feature); or, if delirium is present, criteria for dementia need to have been met on a prior examination when delirium was not present. 4. There is no evidence of another, pre-existing cause for the dementia (e.g., other CNS infection, CNS neoplasm, cerebrovascular disease, pre-existing neurologic disease, or severe substance abuse compatible with CNS disorder) If there is a prior diagnosis of HAD, but currently the individual does not meet criteria, the diagnosis of HAD in remission can be made. If the individual with suspected HAD also satisfies criteria for a severe episode of major depression with significant functional limitations or psychotic features, or substance dependence, the diagnosis of HAD should be deferred to a subsequent examination conducted at a time when the major depression has remitted or at least 1 month has elapsed following cessation of substance use. Note that the consensus was that even when major depression and HAD occurred together, there is little evidence that pseudodementia exists and the cognitive deficits do not generally improve with treatment of depression. Children may also develop an HIV-associated neurodevelopmental disorder, characterized by developmental delay, hypertonia, microcephaly, and basal ganglia calcification. The neurological involvement most often occurs in the absence of opportunistic infections and neoplasms, which is not the case in adults. From J Infect Dis 1988;158:1079–83. Price RW, Brew BJ. The AIDS-Dementia complex. Reproduced by kind permission of the Univ. Chicago Press.
Chart H–17. Diagnostic Criteria for HIV-Associated Predominantly Sensory Neuropathy Probable (must have each of the following) 1. Distal limb sensory symptoms (feet > hands) of a peripheral nature, with numbness, burning or pain. 2. Neurological examination confirming a distal, relatively symmetrical polyneuropathy in which sensory abnormalities predominate. 3. Electrodiagnostic studies indicative of a polyneuropathy with features of both axonal loss and demyelination. 4. Normal CSF cell count and only minimal, if any, elevation of protein level, with negative VDRL. 5. No other etiology (including toxic exposure to dideoxyinosine). Nerve biopsy may be indicated to rule out certain etiologies such as amyloid, but is not a requirement. Possible (must have each of the following): 1. Other potential etiology present (must have each of the following): a. As above Nos. 1, 2, and 3. b. Other potential etiology is present and the cause is uncertain. 2. Incomplete clinical evaluation (must have each of the following): a. As above Nos. 1 and 2. b. Etiology can not be determined (appropriate laboratory investigations not performed). From American Academy of Neurology AIDS task force. Nomenclature and case definitions for neurological manifestations of HIV type 1 infection. Neurology 43:625–7 and Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
attainments or failure to achieve them and acquired symmetrical motor deficits such as pareses, hypertonia, hyperreflexia, ataxia, and gait disturbance. Diagnostic criteria have been suggested and are given in Chart H–18.
HIV-associated progressive polyneuropathy (HIV-associated polyradiculomyelitis) A rapidly progressive, painful syndrome of leg and
sacral paresthesias, moving on to areflexic paraparesis with ascending sensory loss producing saddle anesthesia and both peripheral muscle and bladder denervation, in the context of severe immunosuppression and occurring in patients suffering the later stages of HIV infection.1823 The usual causative organism is cytomegalovirus. An alternative system of classification based on the underlying pathology
has been suggested932 and is given in Chart H–19.
HIV-1-associated distal symmetrical polyneuropathy See HIV-associated predominantly sensory neuropathy.
HIV-1-associated Guillain– Barre´ syndrome See HIV-associated acute inflammatory demyelinating neuropathy.
HIV-1-associated Guillain–Barre´ syndrome
482
Chart H–18. Diagnostic Criteria for HIV-Associated Progressive Encephalopathy of Childhood Probable (must have each of the following): 1. Evidence for systemic HIV-1 infection: a. Infants and children 33 mmol/l, increased serum osmolality >320 mmol/kg, mild ketoacidosis with 15 mmol/l, unlike in diabetic ketoacidosis in which there is significant metabolic acidosis. The lack of ketogenesis is due to the presence of low levels of endogenous insulin, sufficient to inhibit lipolysis but not gluconeogenesis. Precipitants include infection, stroke, intercurrent illness, noncompliance with diabetic treatment, alcohol abuse, myocardial ischemia, acute gastrointestinal illness, and surgically induced stress.6329
hyperostosis 1. Bony overgrowths or excrescences. 2. Thickening of normal bone as in hyperostosis frontalis interna.
hyperostosis corticalis generalisata congenita (dominant osteosclerosis, Caffey Silverman syndrome) The milder, dominantly inherited form of endosteal hyperostosis characterized by hyperostosis and osteosclerosis of the skull, mandible, and other parts of the skeleton, and commonly complicated by VII and VIII cranial nerve deficits.6874 See also hyperostosis corticalis generalisata familiaris.
osteosclerotic disease with onset in youth, manifesting intracranial hyperostosis, osteosclerosis of the calvaria, and skull base only, recurrent facial palsy and variable involvement of cranial nerves I, II, and VIII.4045
with causalgia. Hyperesthesia has the same meaning and represents the current usage of the term. 3. A painful syndrome of increased reaction to a stimulus in association with a raised threshold for perception of that stimulus.
hyperostosis frontalis interna
hyperphagia Pathological overeating, as may result from some hypothalamic lesions. See bulimia.
(Morgagni–Stewart–Morel syndrome, calvarial hyperostosis) Thickening and condensation of the frontal bones, seen almost exclusively in females. Obesity and hypertrichosis but no neurological deficits accompany this phenomenon, although all manner of troubles were ascribed to it by Morgagni (1761). A variant is hyperostosis frontalis interna with cataracts, a congenital dysmorphic syndrome characterized also by skeletal deformities, cataract, strabismus, short neck, thick calvarium, fasciculations, and mental and developmental delay.381
hyperoxaluria type 1 (glycolic aciduria) A recessively inherited peroxisomal disorder resulting from a deficiency of alanine glyoxalate aminotransferase and characterized by hyperoxaluria, hyperglycolic aciduria, the formation of calcium oxalate stones in the urine, and nephrocalcinosis.1446 Combined axonal and demyelinating polyneuropathy, causing painful paresthesias or weakness, is a noted complication.2688 Renal failure usually leads to death before the end of the second decade.
hyperparathyroid myopathy A syndrome consisting of fatigue, wasting, quadriceps weakness with intact reflexes, and skeletal pain, occurring in the presence of a parathyroid adenoma.1163
hyperparathyroidism Overactivity of the parathyroid glands, leading to hyperostosis corticalis proximal and bulbar muscle weakness, generalisata familiaris (van Buchem wasting, aching, and fatigue with syndrome, chronic hyperphosphatemia hyperactive muscle stretch reflexes. The tarda) The severe autosomal recessive form of findings in osteomalacia are similar.5927 endosteal hyperostosis characterized by More severe neurological disturbances, hyperostosis and osteosclerosis of the skull, including ataxia, internuclear mandible, and other parts of the skeleton, ophthalmoplegia, and pyramidal signs have commonly complicated by VII and VIII also been reported.4932 cranial nerve deficits, and occasionally by increased intracranial pressure and optic hyperpathia (Gr, excessive þ pain) nerve involvement.928, 6474 1. Great torment of mind. 2. Delay in the perception of a stimulus with an aftersensation and overreaction to the painful hyperostosis cranialis interna stimulus, as frequently occurs in association A dominantly inherited hyperostotic and
hyperphenylalaninemia Diffuse encephalopathies occurring in a number of conditions, such as phenylketonuria, dihydropteridine and dihydrobiopterin synthetase deficiency, persistent hyperphenylalaninemia, and phenylalanine transferase deficiency, in all of which there is an abnormality of the phenylalanine hydroxylase enzymic system.1409 hyperphoria A latent tendency for one eye to deviate to a position above that assumed by the other.
hyperpipecolic academia A recessively inherited peroxisomal disorder with onset in infancy, characterized clinically by hypotonia, hepatomegaly, and nystagmus; thereafter, progressive quadriparesis and mental retardation occur as a result of demyelination in the CNS. Elevated serum pipecolate levels are found.2317 See Zellweger disease and neonatal adrenoleukodystrophy.
hyperpolarization A change in the existing membrane potential to a more negative value. See also polarization. hyperpraxia Excessive activity, as in manic conditions. hyperprolinemia A metabolic error characterized by a deficiency of proline oxidase or of a related dehydrogenase. The syndrome is regarded as a diffuse encephalopathy which in some cases causes renal and ocular disease, seizures, mental retardation, and various CNS disorders, or which may be asymptomatic.4440 hyperpyrexia associated with muscle contraction See diencephalic autonomic seizures.
hyperschematia A disproportionate enlargement and embellishment of the left
hypersensitivity raking
496
side of objects drawn by patients with a right the Multiple Sleep Latency Test and the Stanford Sleepiness Scale. hemispheric lesion; a disorder of Variants include representation of extrapersonal space.5346
hypersensitivity raking Unusual responsiveness to the visual environment, considered to be a manifestation of Parkinson disease and a factor leading to freezing of gait.4329
hypersensitivity vasculitis A group of vasculitic syndromes resulting from abnormal responses to foreign antigens. In serum sickness and Henoch–Scho¨nlein purpura, neurological complications are reported.
hypersexuality The increased sexual display and attentiveness manifested by animals (and occasionally by humans) suffering from the Klu¨ver–Bucy syndrome. hypersomnia (excessive daytime somnolence) A climate of sleepiness; enhanced proclivity toward sleep punctuated by spells in which awareness of environmental stimuli is actually lost. It is a feature of the Kleine–Levin, Pickwickian, and various psychiatric syndromes.735 See also hypersomnolence and idiopathic hypersomnia. hypersomnia with increased CSF 5-HIAA A syndrome characterized by a high normal sleep time of 12–14 h/day over several consecutive days, the raised serotonin levels presumably reflecting hyperactivity of serotonergic mechanisms.
hypersomnia-bulimia See Klein–Levin syndrome.
hypersomnolence (excessive daytime somnolence, excessive daytime sleepiness, hypersomnia) The condition of experiencing prolonged nocturnal sleep and long periods of gradual and resistible non–rapid eye movement stage 1–2 sleep (subwakefulness) during waking hours, especially in the morning and when sleep is neither desired nor anticipated. Essential hypersomnolence is defined4904 as ‘‘chronic persistent daytime drowsiness without obvious organic cause.’’ Physiologic functions reflecting hypersomnolence include pupil diameter and fluctuation, other autonomic functions, and EEG activity. The most commonly used objective measures of hypersomnolence are
Secondary hypersomnolence which results from some metabolic or structural disorder of the nervous system. Neurotic hypersomnolence, a condition consisting of lifelong fatigue, hypersomnia, and sometimes sleep reversal as a complication of neurotic or depressive disease. Nocturnal hyperkinesis with daytime hypersomnolence, which is the occurrence of severe myoclonus, restlessness, bruxism, and frequent arousals during the night, with daytime drowsiness.
strabismus.1168 Coarctation of the aorta, cleft lip and palate, and micrognathia may also be associated.
hypertensive encephalopathy
An acute syndrome due to a rapid rise in blood pressure, occurring primarily in patients with chronic, poorly controlled hypertension. Clinically there are altered states of consciousness and severe headaches, in the setting of ophthalmoscopic alterations of malignant hypertension. Uremia, obtundation, seizures, and sometimes transient neurological deficits are common, but nausea, vomiting, seizures, focal signs, Sleep apnea. and visual disturbances are less so. The level of Long-cycle hypersomnia, a condition of recur- consciousness is relatively more depressed rent hypersomnolence occurring at inter- than the severity of the neurological signs vals longer than a day. It is also seen in the might lead one to expect. Papilledema, flameKleine–Levin syndrome; secondary to shaped hemorrhages, and retinal exudates are drug or alcohol abuse; and in shift workers. almost invariable. The diastolic blood pressure is usually >130 mmHg, but there is hypertelorism (orbital hypertelorism, no gross bleeding into or around the brain on imaging or as detected by lumbar puncture. ocular hypertelorism, teleorbitism) The CSF pressure is usually increased.1662, A craniofacial anomaly in which there is 4678 unusual widening of the space between the Neuropathologic changes consist of eyes, and thus increased interorbital and fibrinoid necrosis of arterioles, thrombosis of interpupillary distances, due to arterioles and capillaries, and parenchymal maldevelopment of the lesser wings of the lesions such as microinfarcts and petechial sphenoid bones. Mental retardation is hemorrhages secondary to the vascular lesions, sometimes associated even when the condition is present in isolation,2573 but it is which are not confined to the brain but affect also the eyes, kidneys, and other organs. In the also a feature of numerous other developmental syndromes. The condition is CNS the brainstem is most severely affected. Cerebral edema is not observed, even in usually sporadic but may be inherited as a patients with increased CSF pressure and dominant or recessive trait.4, 1168, 2504 In papilledema.1139 See also eclampsia and adults, the normal distance between the inner canthi is 30–33 mm, and between the posterior leukoencephalopathy. Diagnostic criteria for hypertensive pupils it is more than 64 mm. Orbital hypertelorism exists when there is encephalopathy headache are defined below: true lateralization (i.e., out-turning) of the A. Headache with at least one of the orbits; interorbital hypertelorism is the term following characteristics and fulfilling used when there is no such lateralization, as criteria C and D: 4 is commonly the case in craniosynostosis. 1. Diffuse pain The term was originally coined by Dr. 2. Pulsating quality David Greig, conservator of the Edinburgh 3. Aggravated by physical activity museum, in 1924. See also Greig syndrome. B. Persistent blood pressure elevation to
hypertelorism–hypospadias syndrome (BBB syndrome, Elsahy– Waters syndrome) A dominantly inherited developmental syndrome with incomplete penetrance and variable expressivity, so that males are mainly affected. Clinically, it is characterized by wide-spaced inner canthi (telecanthus), hypospadias, cryptorchidism, mental retardation, cranial asymmetry, and
>160/100 mmHg with at least two of the following:
1. Confusion 2. Reduced level of consciousness 3. Visual disturbances (other than those of typical migraine aura) including blindness 4. Seizures C. Headache develops in close temporal relation to blood pressure elevation
497 D. Headache resolves within 3 months after effective treatment and control of hypertension E. Other causes of the neurological symptoms have been excluded From the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society, and Wiley-Blackwell Publications.
A variant is headache attributed to hypertensive crisis without hypertensive encephalopathy. The ICHD criteria2820 suggest that this is a headache that is bilateral, pulsating, or precipitated by physical activity during a hypertensive crisis (a paroxysmal rise in systolic [to >160 mmHg] and/or diastolic [to >120 mmHg]) blood pressure without the features of hypertensive encephalopathy, developing during such a hypertensive crisis and resolving within 1 h after normalization of blood pressure. Vasopressor toxins or medications should have been excluded as causative factors.
hypertensive headache The popular perception of high blood pressure as a cause of headache, for which there is no good evidence except in association with hypertensive encephalopathy.
hypertrophic neuropathy with facial involvement positive limb placement sign.6428, 6429 The association of hypertonia in the upper limbs with dyspraxia. See also arteriosclerotic rigidity.
inflammation of the spinal meninges, including the leptomeninges, producing compression of the spinal cord and nerve 1100 Whether this is due to infections hypertonic bladder See Bors Comarr roots. or autoimmune disease is not certain. classification.
hypertrichosis and gingival fibromatosis A congenital dysmorphic syndrome manifesting also generalized hirsutism, seizures, and mental and developmental delay.381
hypertrichosis–mental retardation–seizures A congenital dysmorphic syndrome characterized by generalized hirsutism, coarse facial features, gum hypertrophy, seizures, and mental and developmental delay.
hypertrophia (hypertrophy) (Gr, above þ nourishment) See hypertrophy.
(Basedow paraplegia) An acute flaccid proximal neuropathy or plexopathy complicating hyperthyroidism.1986
hyperthyroidism See amyotrophic lateral sclerosis, endocrine exophthalmos, myasthenia gravis, and familial periodic paralysis. hypertonia (Gr, excessive þ tone) Increased muscle resistance to passive stretching, as occurs with upper motor neuron lesions. hypertonia of opposition Rigidity in neurodegenerative diseases associated with a general attitude of flexion, particularly of the neck muscles, and with a
hypertrophic granulomatous cranial pachymeningitis Inflammatory swelling of the intracranial dura mater as a result of Wegener granulomatosis or infection.2017
hypertrophic inflammatory neuropathy involving bilateral brachial plexus See multifocal inflammatory demyelinating neuropathy.
hypertrophic interstitial neuritis (De´je`rine–Sottas syndrome) See hereditary motor and sensory neuropathy, type 3.
hypertrophic interstitial hypertrophia musculorum vera neuropathy with cataracts See
A dominantly inherited syndrome with the onset in youth or adult life of muscle hypertrophy with muscle pain, cramps, and often paresthesias, but without weakness.5056 A variant is hypertrophia musculorum vera and hyperthyroid myopathy ataxia, which is a congenital syndrome A syndrome of proximal muscle weakness characterized by painful muscle hypertrophy, with atrophy and myopathic EMG fasciculations, and neurogenic weakness, abnormalities complicating nearly all cases of cerebellar ataxia, raised serum creatine kinase hyperthyroidism. See also acute thyrotoxic levels and sensory neuropathy.4732 myopathy and familial periodic paralysis.
hyperthyroid neuropathy
hypertrophic cervical pachymeningitis Chronic
hereditary motor and sensory neuropathy, type 1.
hypertrophic mononeuritis, focal upper limb demyelinating neuropathy See multifocal inflammatory demyelinating neuropathy.
hypertrophic myelomalacia See Foix–Alajouanine syndrome.
hypertrophic myopathy
Generalized enlargement of muscles which are strong.2207 When not physiologically induced, this is probably Thomsen disease. disorder linked to 17q24, possibly a form See hypertrophia musculorum vera. of neuralgic amyotrophy or a painless manifestation of hereditary pressurehypertrophic neuropathy sensitive neuropathy. In yet other cases it Neuropathies in which there is visible or appears to be due to localized chronic palpable thickening of the cutaneous autoallergic or viral inflammation, (anterior tibial, supraclavicular, greater producing marked hypertrophy of the superficial petrosal, radial sensory) or other nerves of the superficial nerves such as the ulnar or 1396, 6479 plexus. See multifocal peroneal. This occurs for example, in inflammatory demyelinating neuropathy. hereditary motor and sensory neuropathies
hypertrophic brachial plexus neuritis A dominantly inherited
hypertrophic branchial myopathy A syndrome of isolated
types 1, 3, and 4, amyloid and diabetic neuropathies, neurofibromatosis, Roussy– Cornil syndrome, and Marie syndrome.
enlargement of the masseter and/or temporalis muscles, either sporadically or in hypertrophic neuropathy with facial involvement See hereditary association with hypothyroidism.3840 See branchial myopathy. motor and sensory neuropathy, type 1.
hypertrophic neuropathy with facial weakness and kyphoscoliosis
hypertrophic neuropathy with facial weakness and kyphoscoliosis See hereditary motor
and sensory neuropathy, type 3.
hypertrophic pachymeningitis A meningitic syndrome arising secondary to an inflammatory retropharyngeal pseudotumor, manifesting as severe headache and multiple cranial nerve palsies. MRI and CT scans reveal pachymeningeal enhancement and obstructive hydrocephalus attributable to the marked dural thickening around the foramen magnum.4172 Many inflammatory conditions, chronic subdural hematoma, and intracranial hypotension also present in a similar manner.3604
hypertrophic spinal meningitis (Charcot–Joffroy syndrome, epidural ascending spinal paralysis) A syndrome clinically resembling syringomyelia or amyotrophic lateral sclerosis but with pain in the neck and back and often sphincter disturbances and vasomotor changes in the limbs, and associated with chronic granulomatous inflammation of the cervical spinal meninges.1108 See Spiller syndrome.
hypertrophy (hypertrophia) Abnormal enlargement of a tissue or organ.
hypertropia Vertical strabismus, one eye being elevated with respect to the other.
sleep–dream imagery of rapid eye movement sleep occurring inappropriately and include a recall of scenes from recent waking hyperventilation syndrome (Da experience. They may be accompanied by Costa syndrome, overbreathing) The state in visual, auditory, or somesthetic sensory which the ventilatory activity is greater than illusions. When combined with sleep paralysis, the subject experiences a true that which is physiologically required, nightmare. leading to a lowering of PaCO2 and See also hypnopompic hallucinations, consequent cerebral vasoconstriction. This narcolepsy, and Chart S–6. then causes a variety of symptoms (paresthesias, loss of consciousness, giddiness, weakness, tetany, and transient hypnagogic imagery Vivid sensory visual loss) which are often accompanied by images occurring at the onset of sleep, both other symptoms of anxiety. For confident in rapid eye movement sleep-onset diagnosis, the symptoms must be periods280 and in nonrapid eye movement reproduced in the office when the patient sleep awakenings, when they are briefer and hyperventilates for 30–60 s. The condition is less affectively charged. most commonly seen in the context of a chronic anxiety state.4193 hypnagogic startle A sudden bodily jerk observed commonly at the onset of sleep hyperventilation-epilepsy and resulting in at least momentary syndrome The occurrence of seizures as a awakening.280 result of hyperventilation was described by Rosett in 1924, and in the following year hypnic headache (alarm clock Foerster showed that seizures could be headache, clockwise headache) A rare, induced thus in many epileptic patients. If benign, regularly occurring, diffuse, and overbreathing leads to seizures, surely self-limited nocturnal headache affecting underbreathing should stop them; and patients usually over the age of 60 years Durham recounts the use of artificial during rapid eye movement sleep and lasting pneumothorax as a treatment modality, up to an hour. The mild-to-moderate head noting that between the two World Wars it pain lasts from 15–60 min and is typically was recorded that patients with tuberculosis generalized, although it may be unilateral. treated thus had far fewer ‘‘seizures.’’1765 Nausea, photophobia, phonophobia, lacrimation, nasal congestion, and ptosis are rare accompaniments.5202 It is distinct from hyperviscosity syndrome See cluster headache by virtue of its diffuse site Waldenstrom macroglobulinemia. and relative lack of severity and by the absence of ocular and nasal symptoms. hypesthesia Decreased sensitivity to sensory stimuli, usually applied to common A lesion of the suprachiasmatic nucleus is postulated as causative.1520 Diagnostic sensory modes. Hypoesthesia has the same criteria have been defined as follows: meaning. to thrive in infancy. The EEG shows a pattern of sharp waves and spikes.6182
hypertryptophanemia An aminoacidopathy characterized by elevated serum tryptophan levels with the massive urinary excretion of indoleacetic, lactic, and pyruvic acids and characterized clinically by ataxia, spasticity, mental retardation, and pellagrinoid skin rash. The responsible hyphema The presence of red blood in enzymatic defect might be of tryptophan the anterior chamber of the eye due to transaminase.5930 infection or hemorrhage. hyperuricemia, deafness, and ataxia A rare syndrome of elevated blood uric acid levels appearing in late childhood with progressive spinocerebellar ataxia, sensorineural deafness, weakness, and renal insufficiency occurring after puberty. The condition is probably dominantly inherited but the biochemical lesion is unknown.5400
498
hypnagogic jerks (from Gr, sleep þ leading) See sleep starts.
hypnagogic hallucinations The occurrence of vivid, waking auditory or visual perceptions incorporated into dreamlike periods during the lightest stages of nonrapid eye movement sleep (or immediately upon awakening– hypnopompic hallucinations) in normal hypervalinemia A diffuse encephalopathy characterized by vomiting, people and in the rapid eye movement sleep nystagmus, hyperkinesias, ataxia, and failure periods of narcoleptics. They represent the
A. Dull headache fulfilling criteria B–D B. Develops only during sleep and awakens patient C. With at least two of the following characteristics: 1. Occurs >15 times per month 2. Lasts 15 min after waking 3. First occurs after age of 50 years D. No autonomic symptoms and no more than one of nausea, photophobia, or phonophobia From the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society, and Wiley-Blackwell Publications.
hypokinetic automatism
499
hypnic jerks (sudden bodily jerks on falling asleep) Shocklike starts, affecting the whole body, occurring in nonrapid eye movement sleep stages 1 and 2 and thus at sleep onset in normal people. See sleep starts.
characterized by the onset in childhood of orofacial dyskinesias, dystonia, pigmentary retinopathy, progressive dementia, prominent facial dyskinesias, and dystonias with associated hypo-prebetalipoproteinemia, abundant acanthocytosis, and evidence of iron hypnogenic paroxysmal deposition in the basal ganglia.2896 The eye dystonia Episodes characterized by coarse, violent movements of the limbs with of the tiger sign may be present on MRI scans. The condition is allelic with tonic spasms, vocalization, or laughter, occurring mainly or only at night. A familial pantothenate kinase–associated neurodegeneration (PKAN; form is recognized.3954 See nocturnal neurodegeneration with brain iron paroxysmal dystonia. accumulation). hypnopompic hallucinations The occurrence of vivid waking auditory or visual hypoceruloplasminemia A dominantly inherited syndrome perceptions incorporated into dreamlike characterized by low serum ceruloplasmin periods immediately upon awakening. levels in the absence of other evidence of Wilson disease.1305 hypnosis A state of altered awareness induced by suggestion and associated with further abnormal suggestibility, focused hypochondriasis A morbid concern awareness, loss of critical judgment, amnesia and with one’s health, generally manifested as a possibly anesthesia, time regression, and ability belief that one is or is about to be affected by to maintain fixed postures. The condition can be a disease. The problem may be a induced at least to some extent in all humans, manifestation of chronic anxiety or of and in some animals.4904 depression.
nerve on one side to produce the alternating hemiplegia. See also Jackson syndrome.
hypoglossal-facial anastomosis An operation performed to normalize facial movement in people with hemifacial spasm or in those who have lost facial nerve function as a result of surgery for the treatment of cerebellopontine angle tumors. Autogenous nerve grafts may produce better results because functional reinnervation from the stump of the divided VII cranial nerve leads too often to synkinetic mass action of the facial muscles during attempts to move the tongue.
hypoglycemic amyotrophy A syndrome of distal muscle wasting associated with hypoglycemia, probably due to damage to the anterior horn cells or motor roots. Recovery occurs clinically with evidence of reinnervation accomplished by axonal sprouting.2782
hypoglycemic headache (headache attributed to fasting) Diagnostic criteria
have been defined as follows: hypnotic-dependent sleep hypocretins Hypothalamic excitatory disorder Insomnia or excessive sleepiness neuropeptides concerned with the regulation A. Headache with at least one of the associated with tolerance to or withdrawal from hypnotic medications.1629
of feeding, sleep, and arousal. See orexins.
following characteristics and fulfilling criteria C and D:
hypo- (Gr, below, under, less than).
hypocupremic myelopathy See copper deficiency myeloneuropathy.
1. 2. 3. 4.
hypobaropathy See altitude insomnia. hypoesthesia Decreased sensitivity to hypobetalipoproteinemia A dominantly inherited syndrome manifest in youth or young adult life by low levels of cholesterol, -lipoproteins and triglycerides, sometimes with acanthocytosis. The responsible gene maps to 2p24–p23. The neurological features are extremely variable, if any occur at all; seizures, multifocal lesions of white matter, myelopathy, sensorimotor neuropathy, and ataxia have all been reported in different kinships. The most common symptom complexes are spinocerebellar degeneration or peripheral neuropathy.2754, 4098 See also cerebellar ataxias (variants).
sensory stimuli, usually applied to common sensory modes. Hypesthesia has the same meaning.
Frontal location Diffuse pain Nonpulsating quality Mild or moderate intensity
B. The patient has fasted for >16 h C. Headache develops during fasting D. Headache resolves within 72 h after resumption of food intake
hypogastric reflex of Bekhterev From the International Classification of See abdominal reflexes.
hypogenic dystonia See familial paroxysmal dystonic choreoathetosis (familial paroxysmal hypogenic dystonia).3954
Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society, and Wiley-Blackwell Publications.
hypoglycorrachia An unnecessary hypoglossal nerve (Gr, beneath þ the term meaning low glucose levels in the CSF.
tongue) The XII cranial nerve, containing purely motor fibers, all of which pass to the tongue muscles.
hypokinesia Poverty of willed movement. See akinesia.
hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome; OMIM 200150) An encephalopathy
hypoglossal-alternating hemiplegia syndrome A vascular
hypokinetic automatism In the syndrome of the medulla due to a context of epilepsy, a decrease in the paramedian lesion which damages the amplitude and/or the rate of, or the arrest pyramid and the fasciculus of the XII cranial of, ongoing motor activity.
hypokalemic myopathy
500
hypokalemic myopathy Muscle membrane damage with resulting weakness and myoglobinuria, complicating chronic potassium depletion.
multisystem neuroectodermal disorder described by Ito in Japan in 1952. The responsible gene maps to 9q33-qter. It is characterized by the presence of a whorled or swirling pattern of skin hypopigmentation, hypokalemic periodic paralysis shown up by viewing the skin under Woods light. Heterotopias of the white A familial syndrome of attacks of flaccid matter lead to mental retardation, weakness of the trunk and limbs, precipitated by food and sometimes relieved convulsions, disturbances of language, and hypotonia or pyramidal signs in most by exercise. See familial periodic paralysis. affected children.233, 5465 Short stature, skeletal abnormalities, hypomagnesemia Tremors, twitches, cloudy corneas, microphthalmia, myopia, and seizures, often with mental confusion, retinitis pigmentosa, strabismus, agitation, and hallucinations and a positive nystagmus, macrocephaly, alopecia, and low Chvostek sign, as a result of magnesium densities in the white matter on CT scans as 2129 deficiency. well as many other complications may also be associated.3639 hypomania A state judged to be more intense than simple euphoria (or unwonted hypometria A reduction in the cheerfulness) but less intense than mania, the amplitude of limb movements which are etiologies of which it shares. It represents a otherwise normally formed. A lesion of the mild to moderate level of mania that may contralateral supplementary motor area has actually be pleasurable and can be associated been incriminated.4271 with good functioning and enhanced productivity. However, hypomania can hypometric saccade A normal single progress to mania (or to depression). saccade which stops before fixation of the A manic episode is diagnosed if elevated mood occurs with three or more of the other desired target is achieved (undershooting), symptoms listed below for most of the day, requiring thus a further small corrective nearly every day, for 1 week or longer. If the saccade in order to place the image of the mood is irritable, four additional symptoms target on the fovea (a refixation eye movement). See also hypermetric saccades, must be present. The clinical features of pulse dysmetria, and postsaccadic drift. mania (From the NIMH Web site: http:// www.nimh.nih.gov/health/publications/) include a lasting period of behavior that differs from normal by virtue of the following: • Increased energy, activity, and restlessness with reduced need for sleep • Excessively ‘‘high,’’ euphoric mood with lack of insight (denial that anything is wrong) • Extreme irritability • Racing thoughts and rapid speech output, jumping from one idea to another • Distractibility, poor concentration • Impaired judgment; unrealistic beliefs in the subjects’ abilities and powers • Provocative, intrusive, aggressive, or unregulated behavior (e.g., spending sprees, asocial manifestations of an increased sexual drive) • Abuse of drugs, particularly cocaine, alcohol, and sleeping medications
hypomelanosis of Ito (incontinentia pigmenti achromicans, systemic achromic nevus) An uncommon, sporadic, or dominantly inherited congenital
demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease), 18q-syndrome (MIM 601808), brain hypomyelination with atrophy of the basal ganglia and cerebellum, and Pelizaeus–Merzbacher disease.
hyponatremia Low serum sodium levels, frequently developing in patients on neurologic intensive care units and complicating the course of acute neurologic disorders. Two pathophysiological mechanisms have been suggested to cause noniatrogenic hyponatremia: cerebral saltwasting syndrome (CSWS) and inappropriate secretion of antidiuretic hormone (SIADH). hyponatremic encephalopathy A combination of brain swelling and increased intracranial pressure, leading to increased pressure on the brain, decreased cerebral blood flow, and sometimes cerebral herniation, due to the retention of free water and an osmotic imbalance between the extracellular fluid and neural tissues. Central pontine myelinolysis is not necessarily a feature.6318
hypo-osmotic brain edema
Excessive water content of the brain’s extracellular space as a result of hypoosmolality of the blood, as seen in patients with the syndrome of inappropriate ADH hypomimia Reduced facial expressivity, secretion or after the massive replacement of as seen in Parkinsonism or depressive states. blood with hypotonic fluids.
hypomyelinating leukoencephalopathies A heterogeneous group of childhood genetic disorders, characterized by a reduced formation of brain myelin and presenting with nystagmus, hypotonia, motor delay, cerebellar ataxia, and spasticity. The clinical progression is usually slow, with motor handicap being greater than intellectual impairment. Numerous patients of both genders who fail to show PLP mutations may have a slowly progressive disease with clinical and MRI features indistinguishable from PMD. Given the phenotypic homogeneity, these patients are referred to as affected by a PMD-like disorder (PMLD). Loci on Xq, mutations in the autosomal GJA12 gene connexin have been discovered in some cases.933 See Cockayne syndrome type II, Salla disease, Tay syndrome, PCWH (peripheral
hypoparathyroidism Impaired activity of the parathyroid glands, leading to the neurological complications of increased intracranial pressure, seizures, and tetany in a few cases. Other complications occasionally reported include the features of Addison disease, ptosis, blepharospasm, increased intracranial pressure, superficial moniliasis, proximal myopathy, seizures, and tetany.3972, 2299, 5757
hypoperfusion syndrome A rare and potentially devastating complication of carotid endarterectomy, angioplasty or stenting, and due to acute focal edema of the brain or acute hemorrhages, causing seizures and focal deficits in 24 h after the procedure.
hypophosphatasia (phosphoethanolaminuria) A fatal, recessively inherited neonatal syndrome
hypothyroid headache
501
characterized by craniostenosis, skeletal deformities, and hypercalcemia. Variants include forms occurring in later years with a syndrome resembling rickets and the occurrence of low levels of serum alkaline phosphatase without symptoms.1957
hypophosphatemia A condition of reduced serum phosphate levels below 2 mmol/l, as may occur in diabetes mellitus, alcoholism, renal tubular acidosis, hepatic disease, excessive alkali ingestion, etc. Profound hypophosphatemia can produce severe proximal and respiratory flaccid weakness resembling that in acute inflammatory demyelinating polyneuropathy. The condition may be due to the decreased absorption of phosphate or its increased renal excretion cellular uptake. It also occurs in association with abnormalities of vitamin D metabolism. Clinically, the condition is marked by anorexia, proximal muscle weakness and waddling gait, irritable paresthesias, dysarthria, and seizures,5646 while, with extreme reduction of phosphate levels (200 mV), arrhythmic, chaotic slow waves at 1–3 Hz interspersed with multifocal spike discharges, without consistent synchrony between the two sides of the head or between different areas on the same side during wakefulness and between seizures. The pattern may disappear during rapid-eye-movement sleep. Many variations are also described.690 These findings are usually associated with infantile spasms (West syndrome) but may also be noted in neurofibromatosis and in certain metabolic diseases of the nervous system.
hysterical sensory loss
hysterical sensory loss Subjective abnormalities of sensation, seldom conforming to the anatomical distribution of a nerve or a root, commonly involving all modes of sensation, and considered to reflect the use of the mental mechanism of dissociation. See also Waddell signs and hysteria. hysterical signs Clinical signs
504
9.
10.
suggestive of nonorganic pathology. There follows a clinically derived compendium; no single one of these signs is itself sufficient to make the diagnosis with any confidence. Sensory 1. Vibration is felt when the tuning fork is placed on one side of the sternum, forehead, or incisor teeth but not when it is placed across the mid-line on the other side, which is unphysiological. 2. During sensory testing, the patient may be asked to say ‘‘yes’’ if she or he feels the touch, pin, etc. and ‘‘no’’ if not. 3. Distal arm anesthesia ends precisely at the shoulder line, as if it were the top of the sleeve. 4. Psychogenic hemiparesis is often complicated by hemianesthesia that extends to the mid-line, affects all modalities of sensation, and may be accompanied by an ipsilateral decrease or loss of vision, hearing, taste, and smell. Anesthesia of the affected half of the body is rare in organic hemiparesis. If present, the cause is usually a cerebral lesion. In both psychogenic and organic paralyses, secondary contractures and vasomotor changes occur.
Formal Motor Testing 5. Collapse during toe walking, always toward the ‘‘good’’ side. 6. Give-way weakness on testing the abductor digiti quinti and palpating the tendon of the flexor carpi ulnaris. 7. See the forearm rolling test. 8. In organic hemiparesis there is sparing only of the upper portion of the face; in psychogenic paralysis there is also sparing of the face, tongue, platysma, and sternocleidomastoid muscles. In organic hemiparesis the muscle stretch reflexes are exaggerated, the abdominal reflexes are diminished or absent, the Babinski and other corticospinal tract responses are present and there may be clonus. However, in psychogenic paresis the muscle stretch reflexes are normal or increased in range but have normal speed, the abdominal reflexes are normal or increased, there are no corticospinal tract responses, and there is no persistent clonus. In organic hemiparesis the gait is
11.
12.
13.
14.
15.
16.
of the unilateral spastic variety with circumduction of the leg; in psychogenic paralysis the gait is bizarre and there may be dragging of the foot. See Hoover sign, Babinski trunk-thigh sign, Neri sign of combined flexion of the thigh and leg, Bechterew sign, and Raimiste arm and leg signs. Asynchronous leg and arm movements occur in tonic–clonic seizures (although bilateral asynchronous movements without loss of consciousness may be accompanied by EEG findings of 6 Hz spike and wave). Any hyperactivity of the muscle stretch reflexes is characterized by an increase in the range of movement rather than in the speed of response. Pseudoclonus at the knee or ankle is irregular and poorly sustained and is not stopped by plantar flexion of the foot. Subjects with nonorganic weakness of one lower extremity may use a cane on the wrong side. Cutaneous reflexes are not affected in psychogenic paralyses, but the abdominal reflexes may be increased. The Babinski sign and the related dorsiflexor and fanning responses are seen only in organic conditions. Tests for power, tone, and coordination may be normal if carried out while the patient is lying down.
Gait 17. On testing stance, any body swaying occurs from the hips rather than from the ankles; trembling and shaking occur without signs of fear or pain. The truly ataxic patient makes every effort to maintain the erect posture and to avoid falling, whereas the simulator or hysteric usually reels from side to side or falls en masse without trying to maintain equilibrium. The patient may appear to be about to fall to the floor, but either catches himself or herself, if he or she does fall, does so in a theatrical manner, without injury. 18. If a subject with either hysteria or malingering is asked to carry out various commands, such as touching a finger to the nose or alternately pronating and supinating the hands while standing with feet together, she or he may cease to sway and fall. 19. The patient with organic ataxia can usually maintain an upright position with very slight support from a wall or table, or by lightly touching the examiner’s hand, watching the floor, or placing the feet a short distance apart; the patient with psychogenic ataxia is not aided by these measures.
20.
21.
In hysterical astasia-abasia, although the subject seems unable to stand or walk, she or he may be able to move the limbs for other purposes and may skip, jump, run, or walk backward without difficulty. Locomotion is accompanied by superfluous movements of other parts of the body.
Cranial Nerves 22.
23.
24.
25.
A large mirror moved in front of the face of a patient who claims to be blind leads to eye movements because patients cannot avoid moving their eyes when the mirror is moved. Note, however, that because patients with cortical blindness can perceive objects (although making no sense of them) they will also move their eyes when confronted with a moving mirror. The complaint of restriction of the visual fields turns out to be tunnel vision rather than restricted funnel vision on bedside testing and on perimetry. Subjects may be unable to find their own hand in the peripheral field, but this is a function of proprioception rather than of vision. Subjects simulating deafness may react to the sound of coins thrown to the floor after saying goodbye.
General 26.
27. 28. 29. 30.
Pelvic/coital rocking in pseudoseizures, especially if the subject grabs a bed rail to obtain more effective rocking. Puffed-up cheeks with breath holding. Events occurring just after the change of nursing shifts. The presence of wrist scars from previous suicidal gestures. Detection of a Medic-Alert or similar bracelet stating ‘‘see wallet card.’’
hysterical twilight state See Ganser syndrome.
hysteroepilepsy The simulation of epileptic seizures by those who do not suffer from them. The differentiation has been aided by video monitoring, but in the nineteenth century, Charcot considered that in hysteroepilepsy the onset of the seizure was preceded by a peculiar mental state and gradual flexion of one limb; violent limb movements preceded the tonic spasm; attacks were brought on or arrested by compression of the ovaries or other ‘‘hysterogenic areas’’; and standard treatment failed to stop the attacks.4148 See also hysterical seizures.
i iatros (Gr, physician) Used as iatro-,
cytoplasmic inclusions are detectable in cultured skin fibroblasts. The clinical manifestations are seen in infancy and include gingival hyperplasia and both psychomotor and growth retardation, ice-cream headache See cold as well as facial telangiectasias, kyphosis, stimulus headache. skeletal and vertebral abnormalities, arthritis, and seizures, with the slow ice-cream cone sign A sign seen in development of corneal opacities; abnormal subjects with a sterile abscess in the gluteal excretion of mucopolysaccharides is not a muscles as a result of receiving multiple feature. The condition resembles both injections at that site. The swelling is visible Hurler and pseudo-Hurler syndromes. and palpable as a conical, fluctuant mass A major review is that of Kolodny and with a line of needle marks leading to it Cable.3522 (the late Dr. Asa Wilbourn, personal communication, 1993). ice-on-eyes test See ice-pack test. a prefix signifying a relationship with physicians or with the art of medicine.
Iceland amyloid angiopathy A form of familial amyloidosis with involvement of the cerebral vessels, as in cerebral amyloid angiopathy.
ice-pack test (ice-on-eyes test)
opening of that eyelid also suggests the diagnosis.5741
ice-pick pains Recurrent twinges of sharp needlelike pains in the head, lasting for a second or so and occurring mainly in patients with migraine.5204 See idiopathic stabbing headache. It is a puzzle that something so characteristic and common should not have been recognized until the last decade. ice water test Introduction of 100 ml of ice cold water into the bladder leads to its immediate contraction if the bladder is uninhibited, with detrusor instability. With the patient in the supine position, 100 ml of sterile saline water at 4–88C is injected manually. If cystometric capacity was 3 Hz. The discharges are increased in slow-wave sleep. Seizure-precipitating factors such as hyperventilation, sleep deprivation, and intermittent photic stimulation are common. The term idiopathic as defined by the ILAE is reserved for certain focal or generalized epileptic syndromes with particular clinical characteristics and with specific EEG findings, and should not be used to refer to epilepsy or seizures without obvious cause.1265 The various syndromes of idiopathic generalized epilepsies comprise about a third of all epilepsies and include absence, generalized tonic-clonic, and myoclonic seizure disorders alone or in combination, differing mainly in the age of onset.4083 Most if not all are genetically determined; in some cases mapping to 8q24 has been achieved.
most often occurs within an hour or so of awakening. Sleep deprivation, fatigue, and excessive alcohol consumption are precipitants. The interictal EEG is usually normal but generalized spike/ multiple spike wave discharges are often recorded and the condition is photosensitive. The manifestations are usually lifelong but are responsive to current treatments.
idiopathic generalized epilepsy with phantom absences An uncommon form in which occasional GTCS occurs after adolescence in otherwise healthy people, accompanied by myoclonic jerks and subclinical absences which are detectable only with video-EEG recordings but which can be provoked by hyperventilation. Absence status could be a significant social problem since the condition is clinically undetectable. The interictal EEG may show focal paroxysmal bursts of localized slow or sharp waves or spikes while brief generalized 3–4 Hz spike/multiple spike waves are seen during spells.
idiopathic generalized glycogenosis
idiopathic generalized glycogenosis See glycogen storage diseases.
idiopathic headache See episodic tension-type headache.
idiopathic hypercalcemia See Williams syndrome.
idiopathic hyperCKemia A benign condition without neurological abnormalities and with normal or nonspecific findings on other (necessary) laboratory studies, including EMG and muscle biopsy. The frequency of diagnosis of the condition has diminished since the development of knowledge regarding the variable presentations of dystrophinopathies and recognition that -blockers, antipsychotics, and cholesterol-lowering drugs may also be responsible.66 Unexplained persistently increased creatine kinase (CK) levels in an otherwise healthy patient should alert the anesthesiologist to the possibility of malignant hyperpyrexia and/or myopathy. In the more serious cases, raised serum CK levels are a presentation of dystrophinopathies, seen mainly in males, in a minority of whom clinical and/or histopathologic evidence of a neuromuscular disorder develop between 1 and 7 years after detection of hyperCKemia. Such conditions include distal myopathy, myoadenylate deaminase deficiency, subclinical hypothyroidism, polymyositis, mitochondrial myopathy, sarcoid myopathy, McArdle disease, central core disease, multicore disease, inclusion body myopathy, and Duchenne muscular dystrophy carrier status.
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Chart I–1. Diagnostic Criteria for Idiopathic Hypersomnia A. B. C. D. E. F.
A complaint of prolonged sleep episodes, excessive sleepiness, or excessively deep sleep. Presence of a prolonged nocturnal sleep period or frequent daily sleep episodes. The onset is insidious and typically before the age of 25 years. The complaint is present for at least 6 months. The onset does not occur within 18 months of trauma. Polysomnography demonstrates one or more of the following: 1. 2. 3. 4. 5.
A sleep period that is normal or prolonged in duration Sleep latency less than 10 min Normal REM sleep latency An MSLT that demonstrates a sleep latency less than 10 min Less than two sleep-onset REM periods.
G. Absence of any medical or psychiatric disorder that could account for the symptom. H. Does not meet the diagnostic criteria of any other sleep disorder causing excessive sleepiness, e.g., narcolepsy, obstructive sleep apnea syndrome, or post-traumatic hypersomnia. MSLT ¼ Multiple sleep latency test; REM ¼ rapid eye movement. From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Medicine 1991/2001. Reproduced by kind permission of the Academy. See also http://www.sleepeducation.com/Disorders.aspx/.
ataxia, seizures, confusion, and hydrocephalus,3605 more commonly occurring in the Far East. The CSF may or may not show evidence of chronic inflammation with raised protein and white cell counts. MRI and CT images show the thickening of the basal dura. No specific organism has been implicated as responsible in the cases reported to date. The signs usually dissipate after the institution of steroid therapy. See also Tolosa–Hunt syndrome. A similar syndrome has been described in patients with rheumatoid arthritis, syphilis, Wegener granulomatosis, tuberculosis, or cancer.
muscle fiber necrosis, regeneration, and perivascular and intrafascicular mononuclear cellular infiltrate with or without perifascicular atrophy on muscle biopsy. Many atypical presentations are, however, recorded. Chart I–2 is constructed using data from Mastaglia (1985)4153 and from the Web site: http://neuromuscular.wustl.edu/antibody/ infmyop.htm/. Reproduced by kind permission of Dr. Alan Pestronk.
idiopathic insomnia A lifelong
inability to obtain adequate sleep, presumably due to an abnormality of the neurological control of the sleep-wake mechanism. The suggested AASM idiopathic inflammatory 1629 are given in myopathies A heterogeneous group of diagnostic criteria inflammatory muscle diseases from which no Chart I–3. infectious agent can be isolated but sharing idiopathic hypersomnia A disorder the features of the presence of inflammatory idiopathic intracerebral of presumed CNS cause that is associated vascular calcification A rare, infiltrates within skeletal muscles and with normal or prolonged major sleep muscle fiber destruction. Disturbances of the probably dominantly-inherited disorder episodes and excessive sleepiness, consisting immune system are considered responsible characterized by pigmentary retinal of prolonged sleep episodes lasting 1–2 h degeneration, calcification of the basal in many cases. Polymyositis and which are composed of nonrapid eye dermatomyositis are the classic phenotypes, ganglia, thumb deformities, pectoralis movement sleep. Diagnostic criteria have muscle hypoplasia and peroneal muscular in which typical clinical findings include 5031 been suggested (see Chart I–1).1629 proximal girdle weakness, muscle pain and atrophy with mental retardation. tenderness with or without skin rash; idiopathic hypertrophic cranial elevated serum CK levels; multifocal idiopathic intracranial myopathic changes with spontaneous, small, hypertension (spontaneous pachymeningitis A rare, chronic short duration, polyphasic motor unit fibrotic, granulomatous, inflammatory intracranial hypertension, pseudotumor potentials with or without increased condition of the dura mater, presenting cerebri, serous meningitis; toxic, minor, usually with severe headache, papilledema, insertional activity as shown by EMG; and a or pseudo-meningitis; meningismus; visual losses, diplopia, cranial nerve palsies, necrotizing inflammatory process with Julien-Marie-See syndrome; increased
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idiopathic intracranial hypertension Chart I–2. Classification of the Idiopathic Inflammatory Myopathies
Generalized Polymyositis (idiopathic immune myopathy) Dermatomyositis Inclusion body myositis Angiopathic myopathy An inflammatory myopathy associated with Churg–Strauss syndrome, Wegener granulomatosis, or polyarteritis nodosa.4158 Anti-Jo-1 antibody syndrome An immune myopathy with perimysial pathology presenting with weakness, myalgias, or cramps and with Raynaud phenomenon, hyperkeratosis of the hands, and often interstitial lung disease. Perimysial inflammation is seen on muscle biopsy. Anti-MAS antibody syndrome An acute disease of young adults with rhabdomyolysis related to alcohol ingestion and characterized by myalgias and palpitations. Serum CK levels are high and anti-Mas antibodies are detectable. Anti U1-small nuclear ribonucleoprotein syndrome An adult onset disorder characterized by proximal muscle weakness, dysphagia, and myalgia, with interstitial pneumonitis, distal, arthritis, Raynaud phenomenon, lymphadenopathy, and sometimes lymphocytic meningitis. Serum CK levels are high and an antibody binding to snRNP is detectable. Brachiocervical inflammatory myopathy A syndrome with the phenotype of polymyositis or dermatomyositis occurring in later adult life, in which shoulder–girdle and posterior neck weakness are accompanied by dysphagia and sometimes ptosis or ophthalmoplegia. The EMG is myopathic and a decrement may be recorded with repetitive nerve stimulation.4994 Chondroitin sulfate c deficiency A rare syndrome of adults who present with diffuse, symmetrical, proximal weakness, and respiratory failure with dysphagia, but with normal serum CK levels. Muscle biopsy shows absence of staining for chondroitin sulfate.6890 Collagen vascular diseases; polymyalgia rheumatica, lupus, scleroderma. Drug-induced myositis as with penicillamine or statins Eosinophilia myalgia syndrome Eosinophilic perimyositis5734 Eosinophilic fasciitis Eosinophilic polymyositis The presence of an inflammatory myopathy as a complication of a systemic hypereosinophilic syndrome characterized by eosinophilia, anemia, hypergammaglobulinemia, cardiac and pulmonary involvement, skin changes, peripheral neuropathy, and encephalopathy.3727 Graft-versus-host disease A cell-mediated immune reaction mediated by donor cytotoxic T-cells (e.g., following bone marrow transplant) and leading to multiorgan involvement, including the phenotypes of myasthenia, myositis, neuropathy, or fasciitis. Granulomatous myositis A syndrome with the phenotype of polymyositis with dysphagia, sometimes associated with flexion contractures in the arms. The serum CK is normal or raised and the underlying pathology is the presence of noncaseating granulomas in muscles anywhere in the body. Sarcoidosis is one cause. Hemophagocytic lymphohistiocytosis An uncommon inherited systemic disease in which activated macrophages engulf erythrocytes, leukocytes, and platelets. Neurological complications include cerebral edema, seizures, and myalgias. Type I is recessively inherited (9q21) and lethal in early childhood; type 2 (10q22) is less clearly defined. Inflammatory myopathy with abundant macrophages Interstitial myositis Infections: protozoa (toxoplasmosis, malaria etc.) cestodes (e.g., cysticercosis) and nematodes (trichinosis); benign viral myositis, Coxsackie B infection, HIV infection, Lyme disease, leptospirosis, pyomyositis, Sarcocystis etc. Macrophagic myofasciitis Mitochondrial myopathies Multinodular polymyositis Myositis complicating myasthenia gravis Myositis with OJ antibodies An adult-onset syndrome characterized by interstitial lung disease and the phenotype of polymyositis without skin involvement. Necrotizing myopathy with pipestem capillaries A syndrome with the phenotype of dermatomyositis distinguished by its onset in late adult life with subacute or episodic weakness after exercise, myalgias, and an association with cerebral infarctions. Its unique pathology is an enlargement of capillary walls that are thickened due to the deposition of amorphous PAS material and complement.304 Neonatal perifascicular myopathy A nonprogressive syndrome of infancy presenting with diffuse weakness and later with hypotonia, accompanied by cognitive delay. The child’s motor skills may improve with time. Paraneoplastic necrotic myopathy A severe and progressive syndrome of later life, in which the phenotype of polymyositis occurs in association with an underlying malignancy. Perimyositis Signal recognition particle antibody syndrome A disorder of adult life characterized by the acute or subacute onset of severe girdle weakness more than distal weakness with myalgia, Raynaud phenomenon, and very high CK levels. It is differentiated from dermatomyositis only by the presence of antisignal recognition particles. TNF receptor–associated periodic syndrome (TRAPS) A dominantly inherited syndrome of children who develop recurrent high fevers with focal areas of myalgia and an erythematous skin rash overlying sites of localized myositis or fasciitis on the trunk or limbs. It is mapped to 12p13.2. continued
idiopathic intracranial hypertension
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Chart I–2. (continued ) Localized Benign acute childhood myositis A self-limiting syndrome of childhood, more common in males, associated with influenza in which following a prodrome of fever with cough and headache the child complains of calf pain and tenderness with slight weakness and difficulty in walking. Serum CK levels are increased in the acute phase of the disorder.3999 Focal myositis A syndrome occurring at any time of life, characterized by the appearance of a solitary, painful mass in the large leg muscles or occasionally in the arms, trunk, or tongue without generalized weakness, slowly regressing over months to years. Muscle biopsy shows thickening of the perimysial connective tissue and changes of degeneration and regeneration.5901, 1372 Idiopathic orbital myositis An acute, relapsing or chronic idiopathic syndrome occurring mainly in young adults and due to inflammation of one or more extraocular muscles. Clinical features include proptosis and periorbital edema, conjunctiva injection and frequently the complaint of diplopia since eye movements are paretic or at least restricted by the involvement of individual muscles. Masticator myopathy A syndrome of pain and swelling in the masseter and temporalis muscles that is sometimes seen in large dogs but is rare in humans. Monomelic myositis (Gr, single þ limb) Myositis associated with linear scleroderma Myositis associated with panniculitis Proliferative myositis Diagnostic criteria for the idiopathic inflammatory myopathies have been suggested2976 as follows: Polymyositis (PM) Definite polymyositis 1. All clinical criteria with the exception of rash 2. Elevated serum CK 3. Muscle biopsy criteria include b and exclude c, d, h, i.* Probable polymyositis 1. 2. 3. 4.
All clinical criteria except rash Elevated serum CK Other laboratory criteria (1 of 3) Muscle biopsy criteria include b and exclude c, d, g, h, i.*
Dermatomyositis (DM) Definite dermatomyositis 1. All clinical criteria 2. Muscle biopsy criteria include c* Probable dermatomyositis 1. All clinical criteria 2. Muscle biopsy criteria include d or *e or elevated serum CK or other laboratory criteria (1 of 3) Amyopathic dermatomyositis 1. Rash typical of DM: Heliotrope, periorbital edema, V-sign*, shawl sign*, holster sign* 2. Skin biopsy demonstrates a reduced capillary density, deposition of MAC on small blood vessels, along the dermal epidermal junction and variable keratinocyte decoration for MAC 3. No objective weakness 4. Normal serum CK 5. Normal EMG 6. Muscle biopsy does not reveal features compatible with definite or probable DM Possible dermatomyositis without dermatitis 1. 2. 3. 4.
All clinical criteria with the exception of rash Elevated serum CK Other laboratory criteria (1 of 3) Muscle biopsy criteria include c or d*
Nonspecific myositis 1. All clinical criteria with the exception of rash 2. Elevated serum CK
idiopathic intracranial hypertension
511 3. Other laboratory criteria (1 of 3) 4. Muscle biopsy criteria include e or f* and exclude all others. Immune-mediated necrotizing myopathy 1. All clinical criteria with the exception of rash 2. Elevated serum CK 3. Other laboratory criteria (1 of 3)
Muscle biopsy criteria include g* and exclude all others. When all four criteria are satisfied, a diagnosis of definite PM or DM can be made. The presence of three criteria would allow a diagnosis of probable PM or DM and it would be reasonable to treat such patients provided that the clinical features of the illness are compatible (i.e., criterion 1 is present), and that other genetic, metabolic, toxic, and infective causes of myopathy have been adequately excluded. * See original text From Hoogendijk JE, Amato AA, Lecky B. Trial design in adult idiopathic inflammatory myopathies with the exception of inclusion body myositis. Neuromuscul Disord. 2004;14:337–45. Reproduced with permission from Elsevier Science.
Chart I–3. Diagnostic Criteria for Idiopathic Insomnia A. B. C. D.
A complaint of insomnia, combined with a complaint of decreased functioning during wakefulness. The insomnia is long-standing, typically beginning in early childhood, if not at birth. The insomnia is relentless, unvaried through periods of both poor and good emotional adaptation. Polysomnography demonstrates one or more of the following: 1. 2. 3. 4.
An increased sleep latency; Reduced sleep efficiency; An increased number and duration of awakenings; Often a reversed first night effect.
E. No medical or psychiatric disease can explain the early onset of insomnia F. Other sleep disorders producing insomnia can occur simultaneously, for example, adjustment sleep disorder. From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Medicine 1991/2001. Reproduced by kind permission of the Academy. See also http://www.sleepeducation.com/Disorders.aspx/.
intracranial pressure without localizing signs; and Dupre´ syndrome) First described by Quincke (an originator of lumbar puncture) in 1891,5155 this condition is characterized by a rise in intracranial pressure (greater than 200 mm CSF) in the absence of an intracranial mass lesion or of hydrocephalus and with normal CSF contents. It usually represents a disorder of CSF dynamics resulting from increased intra-abdominal and intra-pleural pressure, leading to increased cardiac filling and jugular venous pressures.6119, 6603 Although bilateral sinovenous stenoses were found in almost all of one series, the condition is also a complication of vitamin A poisoning, drug side effects, and renal disease. Increased venous pressure may be secondary to increased CSF pressure in this condition. Clinically, it presents with papilledema, visual obscurations and occasionally a VI cranial nerve palsy without other clinical signs, most often in female subjects. The
condition causes blindness in 10% of cases. Over 120 disorders have been described as associated with it, the most common being obesity, but in 30 percent of the cases in which such clinical features are noted, a different pathology is finally detected.6700 See also otitic hydrocephalus. Diagnostic criteria5917 (modified from those originally suggested by Dandy) include
7. Benign course apart from visual deterioration 8. No other cause of increased intracranial pressure is found. (Reproduced from Smith JL.5898 Whence pseudotumor cerebri? J Clin Neuro-Ophthalmol 1985;5:55–6 by kind permission.)
Another set of criteria requires that the symptoms and signs are only those of generalized intracranial hypertension or papilledema; there is documentation of 1. Clinical features of increased intracranial raised intracranial pressure; the CSF pressure (e.g., headache and papilledema) composition is normal; no hydrocephalus, 2. Increased intracranial pressure at lumbar mass, structural, nor vascular lesion puncture (>250 mm CSF) is found on MRI or MRV (except perhaps for 3. Absence of localizing findings on CNS an empty sella); and the condition cannot be examination. False localizing signs may ascribed to another cause.2203 be present. Variant forms are fulminant/malignant 4. Normal neurodiagnostic studies (apart idiopathic intracranial hypertension, in which from CSF pressure >220 mm in the the presentation is acute with rapidly nonobese and >250 mm CSF in the obese). No evidence of venous obstructive progressive visual loss. This is most commonly associated with venous sinus disease. thrombosis or a meningeal process; and 5. No disturbance of consciousness paroxysmal intracranial hypertension which is 6. Normal CSF constituents
idiopathic late-onset cerebellar ataxias
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background activity with localized high-voltage repetitive spikes, which are sometimes independently multifocal. Brief bursts of generalized spike-waves can idiopathic late-onset cerebellar occur. Focal abnormalities are increased by ataxias A heterogeneous group of ataxic sleep and are without change in morphology. (After Dreifuss FE, et al. A. Progressive headache with at least one of syndromes which were generally reported as Commission for classification and terminology, the following characteristics and olivopontocerebellar atrophies (OPCAs) by ILAE. Proposal for Revised Classifications of fulfilling criteria C and D: De´je`rine and Thomas in 1900 but first Epilepsies and Epileptic syndromes. Epilepsia described by Menzel in 1891. Clinically, the 1. Daily occurrence 1989;30:389–99 by kind permission of the onset is usually around 40 years of age with 2. Diffuse and/or constant ILAE and Wiley-Blackwell.) (nonpulsating) pain gait ataxia, cerebellar and spastic speech, 3. Aggravated by coughing or straining some arm incoordination, impassive facies, and hypertonia. The muscle stretch reflexes idiopathic lumbosacral plexitis B. Intracranial hypertension fulfilling the are brisk and the plantar responses upgoing. See lumbosacral plexitis. following criteria: Dementia and nystagmus are more marked 1. Alert patient with neurological in the OPCAs than in the cortical cerebellar examination that either is normal or idiopathic neonatal convulsions atrophies (see below) but pursuit movements demonstrates any of the following Focal clonic or multifocal clonic seizures and and optokinetic nystagmus are much abnormalities: minimal seizures including tonic deviation, affected in both forms. A) Papilledema eyelid blinking, lip smacking, sucking or Numerous variant forms of OPCA are B) Enlarged blind spot swallowing, or alterations in muscle tone C) Visual field defect (progressive if recognized, usually with dominant with assumption of bizarre postures inheritance and associated with various other untreated) occurring in the neonatal period, and most problems. Linkage to chromosome 6 has D) VI nerve palsy commonly due to hypoxic-ischemic been found in some kinships but not in 2. Increased CSF pressure encephalopathy. Myoclonic seizures also others. These conditions closely resemble (>200 mmH2O in the non-obese, occur less commonly. parenchymatous or cortical cerebellar atrophy >250 mmH2O in the obese) measured by lumbar puncture in the (CCA), but, in the latter, the olivary and idiopathic neurogenic anorectal recumbent position or by epidural pontine changes are less marked and optic or intraventricular pressure atrophy, pigmentary retinal degeneration, incontinence A syndrome of adult life, monitoring and ophthalmoplegia do not occur. See characterized by weakness or the anal 3. Normal CSF chemistry (low protein cerebellar ataxias. sphincter with loss of the anal reflex, usually is acceptable) and cellularity occurring in women among whom it is often 4. Intracranial diseases (including venous sinus thrombosis) ruled out idiopathic leg pain Chronic deep mild due to denervation of the puborectalis by appropriate investigations muscular pain felt especially during rest after muscle resulting from prolonged constipation or from the process of 5. No metabolic, toxic or hormonal exercise. Both the cause and the cure are childbirth.4907 cause of intracranial hypertension unknown.
characterized by headache and severe papilledema caused by paroxysms of raised intracranial pressure.3420 For headache attributed to idiopathic intracranial hypertension, diagnostic criteria have been defined as follows:
C. Headache develops in close temporal relation to increased intracranial pressure D. Headache improves after withdrawal of CSF to reduce pressure to 120–170 mm H2O and resolves within 72 h of persistent normalization of intracranial pressure
that can elevate CSF pressure; and criterion D that the headache resolves within 3 months after removal of the cause.
idiopathic Lewy body disease See idiopathic neuromyotonia Lewy body disease.
idiopathic localization-related epilepsies Childhood epilepsies with
focal (‘‘partial’’) seizures and focal EEG abnormalities. They are age related, without demonstrable anatomical lesions, and are subject to spontaneous remission. Clinically, the patients have neither a neurological nor an intellectual deficit, and Headache attributed to intracranial there is no history of antecedent illness, but hypertension secondary to metabolic, toxic or they frequently do have a family history of hormonal causes represent a variant for which benign epilepsy. The seizures are usually the diagnostic criteria are virtually identical brief and rare, but may be frequent early in except that criterion C requires that the the course of the disorder. The seizure headache develops after weeks or months of patterns may vary from case to case but endocrine disorder, hypervitaminosis A or usually remain constant in the same child. intake of substances (other than medications) The EEG is characterized by normal (From the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.)
(continuous muscle fiber activity, neurogenic benign fasciculations, pseudomyotonia and pseudotetany, chronic or sporadic tetany, acquired myotonia, pseudomyotonia, generalized myokymia, quantal squander, Isaacs syndrome, Isaacs–Mertens syndrome) A sporadic, probably autoimmune syndrome of abnormal spontaneous distal motor unit activity of neural origin (neuromyotonia) manifesting benign fasciculations, generalized myokymia, delayed muscular relaxation (pseudomyotonia), pseudotetany, hyperhidrosis, painful spasms, cramps, and stiffness at rest and in sleep (but exacerbated by exercise); muscle hypertrophy; and abnormal motor nerve conduction velocities. The face and branchial muscles may be affected. The condition is heterogeneous in
idiopathic stabbing headache
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nature and causation; most cases are sporadic and a few are paraneoplastic or autoallergic.3662, 6619 The condition may be of any degree of severity and in some cases is permanent; in others, the symptoms are worsened by voluntary muscle contraction but abate after repetitive effort. The lesion is localized to the distal part of the motor unit and may represent motor axonal hyperexcitability, but its nature is obscure.1212 Variant forms are neurogenic Isaacs syndrome, characterized by onset in youth, pes cavus, myotonia, pseudohypertrophy, myokymia, fasciculation, neurogenic weakness, and loss of pain sensation with neural myelinated fiber loss; an inherited form; and forms associated with hereditary motor and sensory neuropathy,3662chronic inflammatory polyneuropathy, squamous cell carcinoma of the lung,6619 and exposure to 2,4-D or to penicillamine.
idiopathic ophthalmoplegia (Collier syndrome) A syndrome reported from the Far East resembling the superior orbital fissure syndrome with involvement of the III, IV, VI, and the first two divisions of the V cranial nerves. The optic nerve may also be involved. The erythrocyte sedimentation rate is typically raised. Clinically, diplopia, ptosis, giddiness, headache, facial numbness, chemosis, retro-orbital pain, proptosis, conjunctivitis, and/or progressive blindness are the usual features. The signs clear within 2 months, in some cases requiring steroids to do so.6228 See also superior orbital fissure syndrome.
idiopathic orofacial dystonia See cranial dystonia.
idiopathic photosensitive occipital lobe epilepsy A rare form of reflex epilepsy with onset between infancy and 19 years characterized by the experience of elementary visual hallucinations, blurring of vision, or blindness, alone or in combination, as in spontaneous occipital lobe epilepsy. Deviation of the eyes and head, eyelid fluttering, and orbital pain are less common. Myoclonic jerks, absences, GTCS, and bizarre ictal symptomatology mimicking hysterical attacks, and autonomic symptoms as in Panayiotopoulos syndrome are sometimes described. Postictal symptoms include headache, nausea, and vomiting. Flickering lights (including TV monitors) are precipitants, especially if combined with such facilitating factors as excitement, fatigue, or sleep deprivation. The ictal EEG shows occipital discharges of fast spikes ending spontaneously, spreading to temporal regions or progressing to GTCS. Visually evoked responses are abnormally large. See also Jeavons syndrome, television epilepsy, and Pokemon syndrome.4882
idiopathic postural orthostatic tachycardia syndrome A form of autonomic neuropathy seen mainly following a viral illness in women who complain of the acute onset of fatigue and light-headedness, postprandial bloating, or vomiting and tachycardia, exaggerated with tilting. The condition is considered possibly due to decreased plasma volume or red blood cell mass or to adrenergic hypersensitivity resulting from postganglionic sympathetic denervation.5637 See also pandysautonomia and postural orthostatic tachycardia syndrome.
idiopathic pure motor idiopathic orthostatic neuropathy A syndrome of later life hypotension See progressive autonomic characterized by insidiously progressive failure.
idiopathic painless brachial plexopathy A syndrome resembling neuralgic amyotrophy with neurogenic muscle weakness and atrophy but without pain. See also neuralgic amyotrophy.
idiopathic Parkinsonism
asymmetrical, distal weakness, and atrophy, mainly in the legs, with hyporeflexia but with normal sensation. The deficits advance to paraplegia and upper limb involvement eventually, but respiratory and bulbar muscles tend to be spared. Electrodiagnostic studies suggest an axonal neuropathy without conduction block. CSF protein is modestly elevated (6 months 2. Age of onset >30 years old 3. Muscle weakness Must affect proximal and distal muscles of arms and legs and Patient must exhibit at least one of the following features: a. Finger flexor weakness b. Wrist flexor more than wrist extensor weakness c. Quadriceps muscle weakness (£ grade 4 MRC) B. Laboratory features 1. Serum creatine kinase < 12 times normal level 2. Muscle biopsy a. Inflammatory myopathy characterized by mononuclear cell invasion of nonnecrotic muscle fibers b. Vacuolated muscle fibers c. Either (i) Intracellular amyloid deposits (must use fluorescent method of identification before excluding the presence of amyloid) or (ii) 15–18-nm tubulofilaments by electron microscopy. 3. Electromyography must be consistent with features of an inflammatory myopathy (however, long-duration potentials are commonly observed and do not exclude diagnosis of sporadic inclusion body myositis). Also, confusingly, as well as brief, small, abundant potentials with an excess of polyphasics, both fibrillations, and positive sharp waves may be found on the EMG. C. Family history Rarely, inclusion body myositis may be observed in families. This condition is different from hereditary inclusion body myopathy without inflammation. The diagnosis of familial inclusion body myositis requires specific documentation of the inflammatory component by muscle biopsy in addition to vacuolated muscle fibers, intracellular (within muscle fibers) amyloid, and 15–18-nm tubulofilaments. 2. Associated disorders Inclusion body myositis occurs with a variety of other, especially immune-mediated conditions. An associated condition does not preclude a diagnosis of inclusion body myositis if diagnostic criteria (below) are fulfilled. 3. Diagnostic criteria A. Definite inclusion body myositis Patients must exhibit all muscle biopsy features including invasion of nonnecrotic fibers by mononuclear cells, vacuolated muscle fibers, and intracellular (within muscle fibers) amyloid deposits or 15–18-nm tubulofilaments. None of the other clinical or laboratory features are mandatory if muscle biopsy features are diagnostic. B. Possible inclusion body myositis. If the muscle shows only inflammation (invasion of nonnecrotic muscle fibers by mononuclear cells) without other pathological features of inclusion body myositis, then a diagnosis of possible inclusion body myositis can be given if the patient exhibits the characteristic clinical (Al, 2, 3) and laboratory (B1, 3) features. (From Griggs RC, Askanas V, DiMauro S, et al. Inclusion body myositis and myopathies. Ann Neurol 1995;38:705–13. Reproduced by permission of Lippincott, Williams and Wilkins.. Alternative diagnostic criteria are presented at http://www.enmc.org/pdf/emery81.pdf.)
Inclusion Body Myositis Association A nonprofit educational
(such as opening doors, using keys and picking up small objects), dressing, hygiene (bathing and toileting), turning in bed and organization with a mandate to support adjusting covers, sit-to-stand capability, and research into this disease. Tel: 703-433walking and climbing stairs, each on a 7686. Web site: http://www.myositis.org/ 3122 about_myositis/inclusion-body_myositis.cfm. five-point scale.
inclusion cell disease See I-cell
Inclusion Body Myositis Functional Rating Scale An
disease.
assessment tool designed for this condition that rates swallowing, handwriting (with dominant hand prior to IBM onset), cutting food and handling utensils, fine motor tasks
incomplete activation Motor unit action potentials firing, on requested maximal effort, in decreased numbers at their normal physiological rates, within the
basal firing range of 5–10 Hz. Causes include upper motor neuron syndrome, pain on muscle contraction, hysteria or conversion reaction and malingering. Contrast with reduced recruitment. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.)
incontinence Inability to contain the natural evacuations, leading to the inadvertent or uncontrolled passage of urine or feces or both.
induced nystagmus
519
incontinentia pigmenti
incremental exercise test
(Bloch–Sulzberger syndrome, cutaneous meningeal melanosis) An X-linked (or autosomal) dominant mesodermal and ectodermal dysplastic condition causing a variety of pigmented skin lesions, including vesical and bullous eruptions, hyperkeratosis, warts, dermal atrophy, and alopecia, with additional problems such as microphthalmia, cataract, dental and retinal dysplasia, blue sclerae, hemivertebrae with scoliosis, and other skeletal malformations; and, in a third of the cases, neurological disorders, including optic atrophy, chorioretinitis, nystagmus, mental retardation, microcephaly, cerebellar atrophy, hydrocephalus, spastic pareses, and seizures, rarely with anterior horn cell degeneration. 1023, 3703, 3704 The condition is lethal in utero for hemizygous males, and so is seen to excess in female infants. Franceschetti and Jadassohn distinguished Naegeli syndrome from incontinentia pigmenti (Bloch-Sulzberger syndrome) by the equal frequency of the disorder in males and females. The differentiation between the syndromes of Naegeli and of Bloch is based on the fact that while the former disease occurs in both sexes, the latter affects only females.683 Variants are incontinentia pigmenti achromicans (See hypomelanosis of Ito) and infantile spinal muscular atrophy with incontinentia pigmenti.3705
A procedure whereby the force of muscular contraction required to perform motor tasks is correlated with the force expended by the patient at different levels of required exertion. There should be a precise correlation between the force demanded and that expended; when this is not the case, the presence of ‘‘strength withheld’’ or other forms of noncompliance is likely. Incremental ergonometry is a further development of the same principle.
incontinentia pigmenti achromicans See hypomelanosis of Ito.
to either the tuberculoid or the lepromatous forms of the disease.
indeterminate tremor syndrome Bilateral postural or kinetic
tremor of the hands and forearms, or isolated head tremor associated with equivocal neurological signs or concomitant neurological signs of doubtful significance (such as a slightly unsteady gait, mild dementia in an elderly person, hypomimia, reduced arm swing, or mild bradykinesia).1834, 1615 See essential tremor, incrementing response A reproducible increase in amplitude and/or of which this is likely to be a variant. area of successive M waves to repetitive nerve stimulation. The rate of stimulation and the index (From Lat, to point out) number of stimuli should be specified. It is 1. A pointer; the second digit, next to the commonly seen in two situations. In normal thumb. 2. Numerous measurements and subjects the configuration of the M wave ratios of measurements between the points of may change in response to repetitive nerve the body, and especially of the head, used stimulation so that the amplitude mainly by anthropologists but not of great progressively increases as the duration value in medicine. See cephalic index. decreases, leaving the area of the M wave unchanged. This phenomenon is termed index of suspicion The clinician’s pseudofacilitation. Also, in neuromuscular awareness of the relative likelihood of one transmission disorders, the configuration of pathological condition as opposed to another the M wave may change with repetitive nerve within the context of his or her work. stimulation so that the amplitude and the area of the M wave progressively increase. This Indian Agarwal phenomenon is termed facilitation. Cf. megalencephalic decrementing response. (From the 2001 leukodystrophy with cysts Report of the Nomenclature Committee of the A recessive syndrome of megalencephaly, American Association of Electromyography cognitive decline, slowly progressive and Electrodiagnosis.19 Reproduced by kind spasticity, ataxia, occasional seizures, and permission of the AANEM.) extensive white matter changes with
temporal cysts on imaging studies, seen in the Northern Indian ethnic group called A male devil, thought in the Middle Ages to Agarwal.2511 See also megalencephalic increased intracranial pressure be seeking sexual intercourse with women leukodystrophy with cysts. (ICP) A syndrome due to the presence of a during their sleep. The word is now used solid or fluid mass in the intracranial cavity, occasionally for the sense of extreme pressure indifferent electrode (reference characterized by bradycardia, headache, on the chest. See also night terror, sleep electrode) See reference electrode and drowsiness, photophobia, adducted eyes, and terrors, and succubus. recording electrode. dilated pupil(s) (usually due to III nerve palsy, but the dilatation may also be attributed to loss incurvation reflex With the infant Individualized Quality of Life of vision), ptosis, vomiting, and bradypnea. held in ventral suspension, the examiner runs questionnaire (INQoL) An his finger along the paravertebral area, close instrument designed to assess quality of life increased intracranial pressure to the spine. This normally induces a firm in patients with neuromuscular disease. It without localizing signs See swinging of the baby’s pelvis toward the consists of 45 questions in 10 sections stimulation.6898 idiopathic intracranial hypertension. focusing on weakness, myotonia, pain, and fatigue, and the impact that muscle disease incycloduction See duction. has on particular areas of life, as well as the increment Increase in the size of a effects of treatment.6552 compound motor action potential during repetitive motor nerve stimulation, due to an indeterminate leprosy An early increase in the number of muscle fibers stage in the development of leprosy, manifest induced nystagmus (flash-induced, responding to the stimuli. See also by no more than the presence of an drug-induced nystagmus, provoked decrement, potentiation, and anesthetic, depigmented macule which has nystagmus) Forms of vestibular nystagmus pseudofacilitation. the potential for resolution or for progression appearing in normal subjects only in
incubus (from Lat, to lie down upon)
infant Hercules syndrome
520
damage to the motor end plate resulting from botulinus toxin.1199 See botulism.
response to some exciting external event. See also arthrokinetic nystagmus, audiokinetic nystagmus, vestibular nystagmus (caloric nystagmus), optokinetic nystagmus, pseudocaloric nystagmus, and anticipatory nystagmus.
From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Medicine 1991/2001. Reproduced by kind permission of the Academy. See also http:// www.sleepeducation.com/Disorders.aspx/.
infant Hercules syndrome See
infantile CNS degeneration A infantile adrenoleukodystrophy syndrome characterized by optic atrophy,
Kocher-Debre´-Semelaigne syndrome.
A recessively inherited, rapidly progressive infant sleep apnea is characterized by syndrome characterized by severe neuropathy from birth, seizures, and hepatomegaly.2402 central or obstructive apneas that occur See also adrenoleukodystrophy. during sleep. The proposed diagnostic 1629 criteria are as follows: A. The clinical presentation of infant sleep apnea includes one or more of the following: 1. An episode of cessation of breathing during sleep 2. An episode characterized by a. Color change (pallor or cyanosis) b. Tone change (limpness, rarely stiffness) 3. Noisy breathing during sleep B. Central or obstructive apneas occur during sleep. C. The age of infant at presentation can be either
infantile ascending hereditary spastic paraparesis A genetically
leukodystrophy.
infantile amaurotic familial idiocy See gangliosidosis (Tay–Sachs
benign familial infantile seizures with the subsequent development of choreoathetosis.
1. Found following a thorough diagnostic evaluation and is believed to be the cause of the apnea (ALTE with apnea, OSAS) 2. Not found following a thorough diagnostic evaluation (AOP, AOI)
infantile CNS spongy degeneration See Canavan
infantile convulsions and choreoathetosis The occurrence of
disease).
infantile cortical hyperostosis
infantile autism (idiopathic autism) A syndrome characterized by failure to establish communication with others, an obsession to continue ‘‘sameness,’’ failure of language communication, aloofness, preoccupation with D. Polysomnographic monitoring handling small objects, and an inability to demonstrates one or more of the anticipate with appropriate body positioning following: the likelihood of being picked up.3287 1. Prolonged central apnea, longer than Clinically, the condition usually presents 20 seconds toward the end of the first year of life with 2. Obstructive apnea, longer than 10 diminution in crying, motor activity, seconds feeding, language, and response, although 3. An apnea accompanied by cyanosis motor milestones are normal. Stereotypic 4. An apnea accompanied by transient movements and gestures are common. The bradycardia (defined as a drop in heart rate to levels below 50 bpm, a condition is likely to be multifactorial; no heart rate below 60 bpm lasting more single biochemical or structural abnormality than 10 s or a drop below 60 bpm is typically associated and there is no with a duration exceeding 30 s below characteristic abnormality on laboratory baseline heart rate) examination. See also autism and Heller 5. Arterial oxygen saturation less than disease.
E. An identifiable cause for the apnea was either
ophthalmoplegia, areflexia, hypotonia, dysmorphic facies, and severe mental and motor retardation. Microcephaly and seizures may also occur. The course is slowly progressive, but the full-blown syndrome appears within the first 3 years of life. The cause is unknown.2967
heterogeneous syndrome characterized by spastic paraplegia stopping in the first 2 years of life and progressing to tetraplegia with anarthria, dysphagia, and slow eye movements but with long survival and preservation of intellectual capacity.3790 See hereditary spastic paraparesis.
1. Less than 37 weeks postconceptional age (for AOP) 2. Greater than 37 weeks postconceptional age (for AOI)
85% during sleep 6. Sustained hypoventilation (e.g., PETCO2 >45 mm Hg) during sleep
infantile cerebellar ataxia See acute cerebellar ataxia.
(Caffey–Silverman syndrome) A dominantly inherited infantile syndrome characterized by facial swelling due to the formation of new bone (especially of the mandible), excessive bone formation in long bones with pain and pseudoparalysis, fever, and irritability. The condition resolves slowly within a year or two.973
infantile epileptic dyskinetic encephalopathy A syndrome caused by a trinucleotide repeat expansion in ARX, consisting of profound mental retardation, early onset infantile spasms, and severe generalized dystonia beginning in late infancy and progressively worsening. MRI eventually shows multifocal cystic changes in the basal ganglia with mild ventricular dilatation.2616
infantile facioscapulohumeral infantile bilateral striatal necrosis dystrophy A more malignant variant of See familial bilateral striatal necrosis.
infantile botulism A syndrome consisting of constipation, cranial nerve deficits, pupillary involvement (dilatation), and hypotonic weakness with an EMG pattern of brief small abundant (for power exerted) motor unit potentials, considered to be due to
facioscapulohumeral dystrophy, also dominantly inherited, with onset in infancy and death in adolescence.336
infantile hexosaminidase deficiency A cause of very atypical progressive myoclonus epilepsy. See also GM2 gangliosidoses.
infantile striatonigral degeneration
521
infantile lactic acidosis with failure to thrive A form of mitochondrial encephalomyopathy.
infantile metachromatic leukodystrophy See metachromatic leukodystrophy.
infantile muscular atrophy See hereditary motor neuropathy.
infantile myasthenia See myasthenia gravis.
infantile myoclonic petit mal See centrencephalic myoclonic-astatic epilepsy.
infantile myoclonic encephalopathy with hypsarrhythmia See West syndrome. infantile myopathy and lactic acidosis A mitochondrial disease, presenting in the first year of life with feeding and respiratory problems. A fatal form is associated with cardiomyopathy.
Pathologically, the presence of dystrophic axons containing spheroid bodies is notable throughout the CNS and in peripheral tissues. The condition was first reported by Seitelberger.5712 It runs a shorter course and starts at an earlier age than does neuronal degeneration with brain iron accumulation which it otherwise resembles and from which distinction may be impossible. The question is reviewed by Baraitser.379 Variants include Neuroaxonal dystrophy with tubular acidosis, a rare congenital dysmetabolic syndrome characterized by renal tubular acidosis, axonal neuropathy, cerebral and cerebellar atrophy with ataxia and pyramidal signs, resting tremor, and mental and developmental delay.3985 Juvenile neuroaxonal dystrophy, a rare dementing illness in children, with axonal spheroids.1695 Forms with neonatal onset or X-linked inheritance. Spinal muscular atrophy in infantile neuroaxonal dystrophy.
infantile neuronal ceroid lipofuscinosis A recessively inherited
infantile neuroaxonal dystrophy form of neuronal ceroid lipofuscinosis, (Seitelberger disease)A recessively inherited, fatal primary axonopathy of infancy affecting multiple tracts in the CNS. It is characterized by extrapyramidal dysfunction and often by the involvement of optic, cerebellar, and spinal systems. Failure of mental and motor growth, dystonia, dementia, spasticity, areflexia, generalized analgesia, optic atrophy, pendular nystagmus, deafness, and other cranial nerve palsies and peripheral neuropathy result; the affected children never walk nor talk, and eventually die decerebrate before the age of 10 years.3065 Diagnostic criteria are as follows:4593 1. Unequivocal histologic evidence in the form of axonal swellings and spheroid bodies in skin biopsies 2. Onset of symptoms before the age of 3 years 3. Clinically, psychomotor deterioration, with increasing pyramidal tract signs and with marked truncal hypotonia 4. Relentlessly progressive course leading to spastic tetraplegia, blindness, and dementia by the age of 4 years. (From Nardocci N, Zorzi G, Farina L, et al. Infantile neuroaxonal dystrophy. Neurology 1999;52:1472–8. Reproduced by kind permission of the American Academy of Neurology and Lippincott, Williams and Wilkins.)
characterized by psychomotor retardation, hypotonia, trunk and limb ataxia, severe visual deficits due to retinal dystrophy and optic atrophy, myoclonic jerks, and microcephaly, with onset in infancy.5543 See also neuronal ceroid lipofuscinosis.
infantile osteopetrosis and neuronal storage disease A recessively inherited congenital neuroaxonal storage disease characterized by osteopetrosis; osteosclerosis with multiple fractures; enlarged liver and spleen; anemia; cerebral atrophy and macrocephaly; optic atrophy; pyramidal signs; mental and developmental delay; and neuronal inclusions.160
infantile paralysis (infantile palsy) See poliomyelitis.
infantile phytanic acid storage disease A recessively inherited peroxisomal disease characterized by elevated plasma phytanic acid levels with minor facial dysmorphism, sensorineural deafness, cataract, pigmentary retinopathy with visual failure, ichthyosis, electrocardiographic abnormality, enlarged liver, myoclonus, nystagmus, cerebellar ataxia, painful sensorimotor peripheral neuropathy, and developmental delay.6714 See also hereditary motor and sensory neuropathy type 4.
infantile polymyoclonia See myoclonic encephalopathy of infancy. infantile Refsum disease See infantile phytanic acid storage disease.
infantile sleep apnea See sleep apnea.
infantile neuronal degeneration A variant form of hereditary motor neuropathy type 1 (which it resembles clinically). It is recessively inherited and there is additional widespread neuronal loss and gliosis in both the gray and white matter in the thalamus, pons, cerebellum, and spinal cord as well as segmental demyelination in the peripheral nerves.6031
infantile Niemann–Pick disease See sphingomyelin storage diseases.
infantile spasms See West syndrome. infantile spasms, hemimegalencephaly, and hemihypsarrhythmia See West syndrome.
infantile spasms, X-linked See West syndrome.
infantile spinal muscular atrophy, arrested See hereditary
motor neuropathy, type 2.
infantile onset spinocerebellar ataxia with sensory neuropathy infantile striatonigral degeneration A progressive familial A recessively inherited ataxic syndrome, presenting with ataxia, hypotonia, athetosis, and areflexia between the ages of 9 and 18 months, with later-developing ophthalmoplegia and sensorineural hearing loss.3541
neurodegenerative disorder characterized by degeneration of the cerebellum, dentate nucleus, substantia nigra, globus pallidus, inferior olives, and intermediolateral columns of the spinal cord, and clinically
infantile subacute necrotizing encephalopathy associated with mental and motor regression starting from the latter part of the first year of life, seizures and myoclonus, ataxia, pyramidal signs and neuropathy, all progressing to death within the first 5 years of life.2831
infantile subacute necrotizing encephalopathy See Leigh disease. infantile sudanophilic leukodystrophy See adrenoleukodystrophy.
infantile symmetrical necrosis of the neostriatum See infantile bilateral striatal necrosis.
damage the liver. Neurological complications such as meningitis, encephalitis, and polyneuropathy occasionally occur.3792
infectious mononucleosis A disease due to the Epstein–Barr virus, preferentially affecting children and young adults and causing fever, lymphadenopathy, pharyngitis, and splenomegaly. Neurological complications include lymphocytic meningitis, encephalomyelitis, facial palsy, polyneuropathy, and mononeuropathy, but they occur in less than 10% of the cases.2320 In the context of CNS involvement, however, the classic features of mononucleosis mentioned above need not be present.1606
infantile tremor syndrome A syndrome described in India comprising the abrupt onset in summer of a rapid high-intensity tremor, apathy, and hypokinesia in children between the ages of 6 months and 2 years. The tremors mainly affect the face and arms, the latter being abducted at the shoulders and flexed more distally, like a bird drying its wings. The illness is self-limiting over a few weeks, but the children may then show developmental retardation. Anemia is the only constant pathological finding. The cause is unknown,5062 but it is thought to be a meningoencephalitis, as about half the affected children have fever. Apart from the tremor and an expressionless pallid facies, there are no accompanying physical signs.6205
infantile X-linked ataxia and deafness A familial syndrome comprising progressive cerebellar dysfunction, dementia, deafness, hypotonia, optic atrophy, esotropia, and later vomiting, dysphagia with choking, increasing weakness, lethargy, and death. Pathologically, the maximum neuronal loss is in the dentate and olivary nuclei.5615
infectious polyneuritis See acute inflammatory demyelinating polyneuropathy.
infective endocarditis Bacterial infection of the cardiac valves with an incidence of neurologic complications of 30%, almost all occurring in patients with left-sided valvular disease and when the endocarditis is caused by virulent organisms such as S. aureus and the enterobacteriaceae. The clinical presentation is dependent on the area of the CNS involved by infected (micro) emboli. A complication is intracranial mycotic aneurysm.6422
inferior calcaneal neuropathy Compression of this nerve, presenting usually with heel pain. The associated weakness and wasting of the abductor digiti quinti are seldom clinically apparent.4902
inflammatory bowel disease neuropathy Forms of neuropathy often
resembling chronic inflammatory demyelinating neuropathy or multifocal motor neuropathy complicating Crohn disease or ulcerative colitis, mainly seen in infarct Ischemic coagulative necrosis of tissue resulting from obstruction of the lumen adult males. Both small- and large-fiber of the artery supplying the infarcted area. The sensory axonal neuropathies and large-fiber concept was formulated initially by Virchow. axonal sensorimotor neuropathies are described, all with a likely response to immunotherapy.2468 infectious chorea See Sydenham chorea. inflammatory myopathy See infectious hepatitis A systemic viral dermatomyositis, polymyositis, and inclusion body myositis. infection with a particular tendency to
522
inflammatory myopathy, scapuloileoperoneal atrophy, and cardiomyopathy A dominantly inherited syndrome with onset in adult life, characterized by slowly progressive muscle weakness in a scapuloileoperoneal distribution and by cardiopathy. Muscle biopsy specimens show both neurogenic and myopathic changes with inflammatory cell reactions and perivascular cuffing, the latter considered to be a manifestation of a secondary polymyositis.3200
inflammatory sensory polyganglionopathies Disorders affecting primarily the spinal sensory ganglion cells, posterior roots, and peripheral nerves and leading to prominent sensory deficits. Both paraneoplastic and nonmalignant inflammatory disorders are responsible. In the malignant form, ataxic and/or hyperalgesic syndromes occur with or without accompanying dysautonomia. Progression is usually subacute. The most striking clinical features are paresthesias, dysesthesias and eventually anesthesia, loss of reflexes with retained strength, and constipation. Antineuronal nuclear antibodies are present in the serum. Small-cell carcinoma of the lung is the commonest association. In the nonmalignant form, ataxic and/or hyperalgesic syndromes occur, usually with subacute or chronic progression. The clinical features resemble those of the other form, but autonomic signs are not detectable. Extractable nuclear antigen is present in the serum. Other dysimmune conditions such as Sjo¨gren syndrome, connective tissue disease, HIV or other viral infections5903 are commonly associated. This form may thus be regarded as a variant of acute inflammatory demyelinating polyneuropathy.
influenza A viral infection due to many evolving strains, some capable of causing a wide range of neurologic manifestations ranging from minor symptoms such as increased fatigue to coma and death. The more serious forms include febrile and nonfebrile seizures, confusion, lethargy or coma, acute inflammatory demyelinating polyneuropathy, acute disseminated encephalomyelitis, transverse myelitis, abnormal involuntary movements, acute psychosis, frontal lobe syndromes, mutism, visual hallucinations, and
injection myopathy
523
recently acute necrotizing encephalopathy.4067, 3184
Information Centre for Rare Diseases and Orphan Drugs A Bulgarian Web site in English, offering an internet portal and including data on rare diseases and orphan drug information. Web site: http://www.raredis.org/modules/ mylinks/.
Information-MemoryConcentration Test The forerunner of most of today’s scales for diagnosing or rating dementia; it was originally combined with pathological measurements. The test items concern orientation (name, age, temporal items), awareness of site, recognition of people, recall of personal factors, recall of significant dates and persons, tests of 5 min recall, counting, and reversed sets (20 to 1, months of the year). Though validated in the original papers, this test appears to have been superseded by those of more recent origin.681 See also Blessed Roth dementia scale and Addenbrookes Cognitive evaluation .
infra- (Gr, beneath) Prefix denoting beneath.
infraorbital neuralgia Pain felt in the distribution of that nerve with a persistent quality, unlike the stabbing pain of trigeminal neuralgia, although the same treatments may give relief. The cause is seldom determined. infraspinatus reflex Exaggerated
paramyotonia congenita, and potassium-aggravated myotonia are skeletal muscle sodium channelopathies; hypokalemic periodic paralysis, malignant hyperthermia, and central core disease are skeletal muscle calcium channelopathies, while Thomsen and Becker myotonia are skeletal muscle chloride channelopathies. The generalized epilepsy febrile seizures plus syndrome is a neuronal sodium channelopathy; familial benign neonatal convulsions and episodic ataxia type 1 are neuronal potassium channelopathies. Episodic ataxia type 2, familial hemiplegic migraine, and spinocerebellar ataxia type 6 are neuronal calcium channelopathies. A neuronal glycine receptor channelopathy is hyperekplexia. Muscle ACh receptor channelopathies underlie the congenital myasthenic syndromes. Some forms of epilepsy (e.g., autosomal dominant frontal lobe nocturnal epilepsy), the Lambert–Eaton myasthenic syndrome, Alzheimer disease, Parkinson disease, and schizophrenia may result from dysfunction of voltage-gated sodium, potassium, and calcium channels, or acetylcholine- and glycine-gated channels. Vision disorders, for example, congenital stationary night blindness and total color-blindness may also be linked to mutations in ion channels.6136, 1067
inherited myoclonus dystonia See myoclonus dystonia.
inherited prion disease See inherited tendency to pressure palsies See hereditary pressure-sensitive inhibition (from Lat, to hold in)
The arrest of functional activity of an organ or structure as an effect of a rather than abrupt onset of a stroke restraining influence exerted by a neuronal syndrome. This is usually due to thrombosis system. of a major artery or a dural venous sinus as opposed to embolism or hemorrhage.
ingravescent apoplexy The slow
inhibitional palsy of Chavasse
erythromelalgia.
inherited ion channel disorders Channelopathies (disorders caused by mutations in genes encoding ion channels). Hyperkalemic periodic paralysis,
inhibitory epilepsy Rare seizure types in which it is surmised that inhibitory impulses originating from higher centers act on the upper motor neuron itself leaving the anterior horn cell and possibly the upper motor neuron input to the gamma efferents is switched off. Differentiation from postepileptic paralysis is difficult because both may have associated seizures.5871 Inhibitory simple partial (nonconvulsive) seizures also occur, presenting as focal neurological deficits with EEG evidence of appropriate focal seizure activity, for example, after neurosurgical procedures.247 Epileptic aphasic seizures, ictal deafness, ictal amaurosis, epileptic negative myoclonus, Todd paresis, and brief focal atonia are other forms described. See also chalastic fits.
inhibitory nerve A nerve capable of slowing, restraining, or preventing secretion or contraction of the gland or muscle which it innervates.
inhibitory phenomenon A rare form of seizure disorder in which attacks of paralysis are not preceded by convulsive movements in the same territory.2735 See also Todd paralysis.
Jakob–Creutzfeldt disease.
contraction of the infraspinatus when it is tapped; a sign of minimal clinical value even neuropathy. with lesions of the corticospinal pathway above C5 level.
inherited erythermalgia See
right medial rectus). This latter muscle (b) is now hypoactive, which leads to the paresis of its contralateral yoke muscle, the left lateral rectus (a), especially if the paretic eye is used for fixation.2400
Apparent paresis of the contralateral yoke muscle (a) in response to hypoactivity of that muscle (b) which is normally antagonistic to the action of a paretic muscle (c). Thus with a right lateral rectus palsy (c), there will be overaction of the left medial rectus (the yoke muscle) and contracture of the ipsilateral antagonist (the
inhibitory postsynaptic potential (IPSP) A local graded hyperpolarization of a neuron in response to activation at a synapse by a nerve terminal. Cf. excitatory postsynaptic potential. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.)
inion The apex of the external occipital protuberance. The name derives from the Greek word for the tendon at the back of the neck.
injection myopathy Local inflammation following needling of a muscle, especially when antibiotics, digoxin,
injection paralysis
524
specification of input shunt capacitance penicillin, or narcotic analgesics are injected Chart I–7. The Innsbruck Coma Scale (measured in pico-farads [pF]). This is not through it. If such inflammation is Score a synonym for electrode impedance. widespread, it may induce a transient rise in Neurological Assessment the serum creatine kinase levels.3724 Reaction to acoustic stimuli input terminal 1 (recording, active, or Turning towards stimuli 3 injection paralysis Poliomyelitis in a Better-than-extension movements 2 exploring electrode) The input terminal of a differential amplifier at which negativity, single limb into which an injection had been Extension movements 1 given for any reason in the last 2–3 weeks.6885 None 0 relative to the other input terminal, produces an upward deflection. (From the 2001 Report Reaction to pain of the Nomenclature Committee of the injury potential 1. The potential Defensive movements 3 difference between a normal region of the Better than extension movements 2 American Association19of Electromyography and Electrodiagnosis. Reproduced by kind surface of a nerve or muscle and a membrane Extension movements 1 region that has been injured; also called a None 0 permission of the AANEM.) ‘‘demarcation’’ or ‘‘killed end’’ potential. It Body posture approximates the potential across the Normal 3 input terminal 2 (reference electrode) membrane because the injured surface has Better-than-extension movements 2 The input of a differential amplifier at which nearly the same potential as the interior of negativity, relative to the other input Extension movements 1 the cell. 2. In electrodiagnostic medicine, the Flaccid 0 terminal, produces a downward deflection. term is also used to refer to the electrical (From the 2001 Report of the Nomenclature Eye Opening activity associated with needle electrode of Spontaneous 3 Committee of the American Association 19 insertion into muscle. (From the 2001 Electromyography and Electrodiagnosis. To acoustic stimuli 2 Report of the Nomenclature Committee of To pain stimuli 1 Reproduced by kind permission of the the American Association of None 0 AANEM.) Electromyography and Electrodiagnosis.19 Pupil size Reproduced by permission of the AANEM.) Normal 3 input voltage The potential difference See also fibrillation, insertion activity, and Narrow 2 between the two input terminals of a positive sharp wave. differential EEG amplifier. Dilated 1
inner cerebral trauma See diffuse axonal injury.
inner speech (endophasy) ‘‘The totality of processes and experiences which occur when we are going to express our thoughts, etc. in external speech and when we perceive heard sounds such as language. Inner speech is, on the one hand, in relation to the nonlanguage mental processes: on the other hand, to the external instrumentalities (external speech).’’2455 Thus, a central language process coming between nonverbal thought and expressed speech or, in short, the silent processes of thought.1337
innervation The nerve supply of a structure.
Completely dilated
0
Pupil response to light Sufficient Reduced Minimum No response
3 2 1 0
Position and movements of eyeballs Fixing with eyes Sway of eyeballs Divergent Divergent fixed
3 2 1 0
Oral automatisms Spontaneous To external stimuli None
insensitivity to pain See pain asymbolia and hereditary sensory and autonomic neuropathy. insertion activity Electrical activity from myofibrils caused by insertion or movement of a needle electrode within a muscle. See also fibrillation potential and positive sharp wave. integrated EMG The mathematical
2 1 0
integration of the full wave rectified EMG signal that reflects the cumulative EMG activity of a muscle over time.19
From Benzer A, Mitterschliffthaler G, Marosi M, insertions The appearance in speech of et al. Prediction of nonsurvival after trauma: Innsbruck material related to thoughts at a remote coma scale. Lancet 1991;338:977–8. Reproduced by time—a form of perseveration, but with kind permission of Elsevier Science.
excessive delay. A sign in demented patients who sometimes make inapposite use of words which would have been in context half an hour before.2097
IFCN. In: Chatrian GE, Bergamini L, Dondey M et al. A glossary of terms most assessment instrument with excellent commonly used by clinical predictive value as regards poor outcome electroencephalographers. EEG Clin in patients with severe head injuries. Inside MS A neurological journal devoted 537 Neurophysiol 1974;37:538–48. Reprinted (see Chart I–7) to multiple sclerosis, and the official with kind permission from Elsevier Science.) publication of the National Multiple Sclerosis Society. Address: National input circuit A system consisting of the EEG electrodes and intervening tissues, the input impedance The impedance that Multiple Sclerosis Society, 205 East 42nd St., New York, NY 10017. Web site: electrode leads, jack box, input cable, and exists between the two inputs of an EEG electrode selectors. (Adapted from the 1974 amplifier, measured in ohms (generally http://www.nationalmssociety.org/ report of the Committee on Terminology, megohms), with or without the additional InsideMS.asp/.
Innsbruck Coma Scale An
integrative action of the nervous system
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insistence A useful term suggested by Miller Fisher for stubborn ideational perseveration along a track of thought from which the demented patient’s mind is not to be derailed. The patient ignores all inducements to change the subject or to desist from the repeated utterance and may become overtly hostile if pressed to do so or if ignored.2097
of a family member living with them to cope insula (Lat, island) (Island of Reil) That unaided with such activities.3722 See area of cortex lying deep in the Sylvian activities of daily living. fissure, covered by the opercula of the frontal and parietal lobes.
instrumental phase reversal
Simultaneous pen deflections in opposite directions caused by a single wave recorded in two bipolar derivations. This inversion is purely instrumental in nature, that is, due to the same signal being simultaneously insomnia The subjective impression of applied to the input terminal 1 of the other inadequacy in the quantity or quality of amplifier. sleep. The condition may be transient or When observed in two linked bipolar chronic and is due to nonpsychiatric factors derivations, phase reversal indicates that the in perhaps one in four cases. The types of potential field is maximal or less frequently insomnia as suggested by Parkes4904 are as minimal at or near the electrode common to follows: such derivations, so the phenomenon can be Sleep onset insomnia used to localize EEG activities, whether Sleep maintenance insomnia normal or abnormal. See also true phase Early morning waking reversal, bipolar montage, and differential Phase-shift disorders amplifier. (From the 1974 report of the Cyclical insomnia Committee on Terminology, IFCN. In: In persistent psychophysiological insomnia, the Chatrian GE, Bergamini L, Dondey M et al. lack of sleep represents a learned pattern.2796 A glossary of terms most commonly used by clinical electroencephalographers. EEG Clin Total absence of sleep (agrypnia) in a man Neurophysiol 1974;37:538–48. Reproduced with Morvan fibrillary chorea and vesperal 2073 by kind permission of Elsevier Science.) hallucinations has been reported.
inspiratory gasp A clinical test of
autonomic vasomotor control in which brief insufficient sleep syndrome A disorder occurring in an individual who dermal vasoconstriction is sought when a persistently fails to obtain sufficient subject takes a sudden inspiratory gasp. nocturnal sleep required to support normal alert wakefulness. Diagnostic criteria are inspiratory speech See spasmodic given in Chart I –8.1629 dysphonia.
instinctive grasp reaction/ response A deliberate, involuntary
insular sclerosis The first name applied to multiple sclerosis by Moxon, who first described the condition in England.
insular strokes Relatively small strokes that are restricted to the insular cortex and presenting with the following clinical features: A transient contralateral pseudothalamic sensory syndrome Transient painful syndromes Deficits in taste recognition An acute pseudovestibular syndrome with dizziness, gait instability, difficulty remaining upright, and a nonlateralized tendency to fall, but without nystagmus or cerebellar dysfunction, or Distortion of body image Language deficits are also described with left-sided insular strokes1070
integrative action of the nervous system The term of Sherrington for the coordination of movements as a response to sensory stimuli, the coordination being regarded as the simultaneous and successive compounding of simple reflexes; the cooperation of reflexes with allied or harmonious tendencies; and the prevention of simultaneous activity in
Chart I–8. Diagnostic Criteria for Insufficient Sleep Syndrome
progressive closure of the whole hand, made A. A complaint of excessive sleepiness or (in prepubertal children) of difficulty in initiating sleep. B. Habitual sleep episodes shorter in duration than expected for the age of the individual. in a series of small movements but terminating in complete grip when the palm C. When the habitual sleep schedule is not maintained (e.g., on weekends or in vacation time), patients will have a sleep episode that is greater in duration than the habitual sleep episode and is stimulated by variable pressure. See grasp will awaken spontaneously. response and groping.
instructional deficit Inability to perform a test satisfactorily or at all because of the lack of ability to comprehend the instructions.
D. The abnormal sleep pattern is present for at least 3 months. E. A therapeutic trial of a longer sleep episode eliminates the symptoms. F. Polysomnographic monitoring performed over the patient’s habitual sleep period demonstrates
1. Sleep latency less than 15 min longer, a sleep efficiency greater than 85%, and a final awakening of less than 10 min 2. A multiple sleep latency test that demonstrates excessive sleepiness
Instrumental Activities of Daily evidence of significant underlying medical or psychiatric disorder to account for the Living Scale An assessment instrument G. No symptoms
by which eight functions (telephoning, shopping, preparing food, housekeeping, doing laundry, traveling, taking medication, and handling finances) are evaluated on 3 to 5 point rating scales completed by family members on the basis of the capacity
H. Does not meet the criteria for any other sleep disorder producing either insomnia or excessive sleepiness From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Medicine 1991/2001. Reproduced by kind permission of the Academy. See also http://www.sleepeducation.com/Disorders.aspx/.
integrator nystagmus reflex arcs which have antagonistic functions.5787
integrator nystagmus See gazeparetic nystagmus.
integument (Lat, upon þ to cover) A covering, such as the skin.
intellect (from Lat, perceiving or choosing between) The power of reasoning and of understanding.
intellectual aura See dreamy state. intelligence 1. The faculty of using means to attain ends, with understanding. 2. A set of (cognitive) abilities comprising the senses, gnosis, and reflection.2823 3. That set of abilities measured by intelligence tests. At least two forms of intelligence are recognized: fluid intelligence is that required for the solution of new problems, while crystallized intelligence refers to the manipulation of previously learned information.2992
intention An end which a subject decides to attain.
intention myoclonus See action myoclonus.
intention rigidity The occurrence of ‘‘freezing,’’ often leading to falling, when a patient with myotonia congenita has to do something suddenly. intention spasm The simultaneous contraction of agonists and antagonists during performance of a precise voluntary movement, rendering correct execution of the movement impossible. A form of dystonia.
intention tremor A form of kinetic
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intercalated nodes Nodes of Ranvier with an unusually short internodal distance, occurring in the course of remyelination after previous segmental demyelination of peripheral nerves.
full interference pattern implies that no individual motor unit action potentials can be clearly identified. A reduced interference pattern (intermediate pattern) is one in which some of the individual motor unit action potentials may be identified while others cannot due to superimposition of intercostal neuralgia (segmental waveforms. The term discrete activity is used neuralgia) Paroxysmal, sharp pain in the to describe the electric activity recorded distribution of an intercostal nerve, when each of several different motor unit precipitated by spinal movements, usually action potentials can be identified in an with cutaneous tenderness. The primary form is rare, and local spinal or generalized ongoing recording due to limited superimposition of waveforms. The term (infectious or metabolic) causes are more often incriminated as causal agents, although single unit pattern is used to describe a single motor unit action potential, firing at a rapid the mechanism is usually unclear. rate (should be specified) during maximum voluntary effort. The force of contraction interdigital neuralgia See Morton associated with the interference pattern metatarsalgia. should be specified. See also early recruitment, recruitment pattern, and interdigital neuropathy See reduced recruitment pattern. (From the Morton metatarsalgia. 2001 Report of the Nomenclature Committee of the American Association of interdischarge interval The time Electromyography and Electrodiagnosis.19 between corresponding points upon Reproduced by kind permission of the consecutive discharges of the same potential. AANEM.) (Adapted from the 2001 Report of the Nomenclature Committee of the American interference pattern analysis The Association of Electromyography and quantitative analysis of the interference Electrodiagnosis.19 Reproduced by kind pattern. This can be done either in the permission of the AANEM.) frequency domain using fast Fourier interdose withdrawal headache transformation (FFT) or in the time domain and can be done using a fixed load (e.g., See analgesic rebound headache. 2 kg), at a given proportional strength or at random strengths. Both the number of turns interelectrode distance The per second and the amplitude, defined as the spacing between pairs of electrodes. The mean amplitude between peaks, can be distances between adjacent EEG electrodes measured.19 placed according to the standard 10–20 system or more closely spaced electrodes are frequently referred to as short or small interictal That period intervening interelectrode distances. Larger distances such as between acute events affecting the nervous the double or triple distance between system—for example, the time after one standard electrode placements are often seizure and before the next. termed long or large interelectrode distances. (From the 1974 report of the Committee on Interlocking Finger Test A task in Terminology, IFCN. In: Chatrian GE, which the patient is required to imitate the Bergamini L, Dondey M, et al. A glossary of examiner’s finger configurations in which terms most commonly used by clinical the fingers are interlocked in different electroencephalographers. EEG Clin postures, without symbolic meaning. Neurophysiol 1974;37:538–48. Reprinted with kind permission from Elsevier Science.) Results correlate highly with other standard measures of parietal lobe dysfunction and 4458 interference Unwanted electric activity this can be used as a screening test.
tremor due to an oscillation of a limb during the performance of a voluntary goal-directed movement that requires precision in the final placement of part of that limb on a distant target. Such to-and-fro movements, increasing in amplitude as the limb approaches the distant target, are taken as a recorded from the surrounding environment. sign of cerebellar disease on the same side. See also cerebellar tremors and tremor. interference pattern Electric activity recorded from a muscle with a needle inter- (Lat, between) Prefix denoting electrode during maximal voluntary effort. A between.
intermanual conflict A state in which one hand performs an action that is undone by the other hand. See also alien hand syndrome.
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International Brain Research Organization
intermediary coup contusions
intermittent ataxias Cerebellar Single or multiple contusion hemorrhages in syndromes, usually recessively inherited and with an early age of onset. Most are the deeper structures of the brain.6 associated with a metabolic deficit.2754 intermediary nerve of Wrisberg The small sensory component of the seventh cranial nerve, conveying common sensation from the anterior wall of the external auditory meatus.
intermittent branched-chain ketoaciduria A recessively inherited,
internal border-zone (subcortical junctional infarcts) Small infarcts in paraventricular regions or high in the internal capsule resulting from distal middle cerebral artery occlusion beyond the takeoff of the perforating vessels but before the bifurcation of the artery, or from severe extracranial carotid occlusive disease. Clinically, hemiparesis and hemisphere-specific neuropsychological dysfunction are the usual findings.
intermittent ataxic syndrome, a variant of maple syrup urine disease. Various stresses such as infections and surgery may lead to attacks of lethargy, hyporeflexia, ataxia, intermediary sleep stage vomiting, coma, and possibly death. In such Nonrapid eye movement sleep stage 2.280 internal carotid artery web A attacks, the urinary levels of ketoacids are linear filling defect in the proximal part of high.2754 See also cerebellar ataxias. intermediate filaments Fibrous the internal carotid artery, seen in the proteins that mediate cell-type-specific arteriogram of some patients with intermittent claudication of the features of cytoarchitecture, including 4486 a-internexin, cytokeratins, desmin, lilensin, cord The occurrence of pain, leg weakness, fibromuscular dysplasia. glial fibrillary acidic protein (GFAP), and ascending sensory deficits during lamins, nestin, neurofilaments, paranemin, exercise, relieved by rest and lumbar spinal internal hamstring reflex peripherins, phakinin, synemin, and flexion, and resulting either from steal of the (semitendinosus reflex, semimembranosus vimentin. Intermediate filament-associated blood supply from the lower cord segments reflex, posterior tibiofemoral reflex) Contraction of the hamstrings in response to proteins responsible for other disorders and cauda equina or from compression of include aB-crystallin, desmoplakin, emerin, lumbosacral roots at many levels as a result of a tap on the tendons of these muscles, on the medial aspect of the popliteal fossa. The gigaxonin, and plectin. extension during activity in the setting of reflex informs on the state of the L4–5 and (This entry is abstracted from the spinal stenosis. The term was introduced by De´je`rine, as S1–2 reflex arcs. neuromuscular Web site at Washington University, St. Louis, [http:// his patients had pyramidal signs on walking and thus their gait was disturbed. Verbiest internal hydrocephalus Expansion www.neuro.wustl.edu/neuromuscular/ detected radicular symptoms on exercise and of the ventricles, assumed to be due to maltbrain.html] by courtesy of increased intracranial pressure. This term the condition was subsequently called Dr. Alan Pestronk.) intermittent claudication of the cauda equina or and noncommunicating hydrocephalus are interchangeable. neurogenic claudication. Since the term is intermediate interference derived from the Latin word for limping, and pattern See interference pattern. internal purulent it is the patient rather than the cord that intermediate petit mal seizures limps, it is an obvious misnomer. See lumbar pachymeningitis See subdural spinal stenosis. empyema. An epileptic syndrome characterized by features of both classic typical absence attacks and the Lennox–Gastaut syndrome. intermittent oculosympathetic International Academy for Child Brain Development The clinical seizure patterns include typical paresis See periodic miosis. A professional society. Web site: absences and tonic-atonic seizures, but http://www.iahp.org/. intermittent painful motor phenomena including automatisms and change in muscle tone may occur, as may ophthalmoplegia See superior orbital International Alliance of ALS/ generalized tonic-clonic seizures, or tonic fissure syndrome. seizures during sleep. The attacks can be MND Associations The central body precipitated by hyperventilation. The for national organizations that support internal anal sphincter reflex patients frequently show a degree of mental Contraction of the sphincter in response to people living with amyotrophic lateral impairment. EEG discharges consist of slow dilatation, as from a gloved finger. The reflex sclerosis (motor neuron disease). Web site: spike-wave complexes, but the frequency of is mediated by the presacral (sympathetic) http://www.alsmndalliance.org/ the complexes varies during short periods of nerves. See also external anal sphincter reflex. whatsnew.html. time.3959 International Association for internal arousal insomnia See intermediate spinal muscular persistent DIMS. the Study of Pain (IASP) A charitable association in this field. atrophy See hereditary motor Web site: http://www.iasp-pain.org//AM/ neuropathy, type 2. internal auditory artery occlusion An arterial occlusion leading Template.cfm?Section¼Home. intermetamorphosis The delusion to labyrinthine infarction and to the International Brain Research that known or unknown people have altered syndrome of acute vertigo and unilateral Organization A public charity that hearing loss.3431 their physical or mental identity.
International Center for Types A and B Niemann–Pick Disease serves as a platform for funding leading neuroscientists and research institutions around the world. The objective is to maximize the potential benefits derived from basic research and translate it into clinically useful treatments for those afflicted with disorders of the brain. It was founded by H.H. Jasper in 1960 to promote international cooperation in research on the nervous system. Web site: http://www.ibro.org/.
International Center for Types A and B Niemann–Pick Disease A nonprofit organization whose Web site offers information on the prevention and treatment of this disorder for patients and physicians. Web site: http:// www.mssm.edu/niemann-pick/.
International Federation of Clinical Neurophysiology (Formerly the International Federation of Societies for Electroencephalography and Clinical Neurophysiology, IFCN). A professional organization concerned with the practice of clinical neurophysiology, teaching, and research worldwide, equal representation being accorded to EEG and EMG. National societies from 36 countries are affiliated. The journal Clinical Neurophysiology is the official publication of the federation. Web site: www.ifcn.info.
International Federation of Multiple Sclerosis Societies A
professional organization to which all national societies are affiliated, concerned with cooperation in multiple sclerosis research, the publicizing of research International Child Neurology information, and the standardization of Association A professional organization. materials and methodologies in multiple sclerosis research. Web site: http:// Web site: www.child-neuro.net. findarticles.com/p/articles/mi_m0850/ is_1_21/ai_97115891.
International Classification of Diseases of the Nervous System International Foundation for A neuropathologic group particularly concerned with dementing disorders. Web Alternating Hemiplegia of Childhood (IFAHC) A charitable site: http://www.ICDNS.org. International Cooperative Ataxia Rating Scale A 100-point
organization in this field. Address: 239 Nevada St. Redwood City, CA 94062. Tel: 650-365-5798. E-mail:
[email protected]. Web site: http://www.ahckids.org/.
semi-quantitative scale quantifying postural and stance disorders, limb ataxia, dysarthria, International Headache Society and oculomotor disorders, in order that A professional organization, particularly subscores concerning these symptoms may notable for its classification of headaches and 6401 be separately studied. facial pain. Its official journal is Cephalalgia. Web site: http://www.i-h-s.org/.
International Continence Society Classification A system of
International Joseph Disease
classifying neurogenic bladder disorders.3093 Foundation A charitable organization concerned with this condition. Address: Detrusor: Normal, overactive, and underactive P.O. Box 994268, Redding, CA 96099. Urethra: Normal, overactive, and Tel: 530-246-4722. Web site: incompetent http://www.shasta.com/bastiana/.
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International Polio Network/ Gazette International Networking Institute A charitable organization providing support and information on this condition. Address: 4207 Lindell Blvd. #110, St. Louis, MO 63108-2915. Tel: 314-534-0475. E-mail:
[email protected]. Web site: http://www.post-polio.org/.
International Research Council of Neuromuscular Disorders A professional society, the members of which are active in research into diseases of nerve and muscle. Address: P.O. Box 41, New Bremen, OH 45869.
International Rett Syndrome Foundation A nonprofit organization for parents of children with Rett syndrome, interested professionals, and others. It offers information and referral service and support groups and supports research. Address: 9121 Piscataway Rd., Suite 2-B, Clinton, MD 20735. Tel: 301-856-3334; 1-800-8187388. E-mail:
[email protected]. Web site: http://www.rettsyndrome.org/.
International Society of Neuropathology A professional organization for members of national societies of neuropathology publishing the quarterly journal Brain Pathology. Web site: http://www.intsocneuropathol.com/.
international 10–20 system A system of electrode placement on the scalp in which electrodes are placed at sites either 10 or 20% of the total distance on a line on the skull between the nasion and inion in the sagittal plane and between the right and left preauricular points in the coronal plane.1117
International Tremor Foundation A charitable organization
publishing information for patients with essential tremor or Parkinson disease, as well International Multiple Sclerosis as for physicians involved in their care. See also Bors-Komarr classification and Support Foundation A charitable Address: 833. West Washington Blvd., Krane–Siroky classification. P.O. Box DR, Chicago, IL 60607. organization in this field. Address: 9420 East Golf Links Rd., PMB# 291, Tucson, AZ Tel: 312-733-1893. Web site: International Essential Tremor 85730-1340. E-mail:
[email protected]/. Web http://www.essentialtremor.org/. Foundation A charitable organization in site: http://www.msnews.org/. Internet Handbook of this field. Address: 7046 West 105th St., International Neurotoxicology Neurology A comprehensive Overland Park, KS 66212-1803. Association A professional organization information source compiled by the Tel: 913-341-3880; 888-387-3667. E-mail:
[email protected]/. University of Debrecen, Hungary, with in this field. Web site: http:// Web site: http://www.essentialtremor.org/. www.neurotoxicology.org/. superb illustrations of the neuroanatomy and Sensation: Normal, hypersensitive, and hyposensitive
intestinal pseudo-obstruction
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neuropathology of many neurological diseases as well as links to other resources. The Web sites include www.neuropat.dote.hu/movement.htm and www.neuropat.dote.hu/dementia.htm/.
Internet Journal of Neurology A free, online journal publishing reviews and original material. Web site: http://www.ispub.com/ostia/ index.php?xmlFilePath¼journals/ijn/ front.xml.
Internet stroke center A useful informational site at http:// www.strokecenter.org/.
internodes The portions of nerve fibers between nodes of Ranvier.
internuclear ophthalmoplegia (ataxic nystagmus, Bielschowsky–Lutz– Cogan syndrome) A term introduced by Lhermitte to describe the clinical phenomenon of horizontal jerk nystagmus in the abducting eye and impaired adduction of the other eye on lateral gaze, the lesion being in the medial longitudinal fasciculus on the side of the adduction failure. Lutz (a Cuban ophthalmologist in Havana) defined the following two varieties: in his anterior form, the lateral rectus functions normally but the medial rectus is paralyzed on movement toward the side of the lesion, though it supports convergence. In his posterior form, the lateral rectus is paralyzed, but the medial rectus functions normally. The validity of this definition is questioned, and the absence of convergence in the affected medial rectus would suggest that the lesion is higher— that is, more anterior. Dissociated optokinetic nystagmus and ocular dysmetria are also commonly present.5918 The syndrome may be bilateral,6093 in which case multiple sclerosis is the commonest cause, but any brainstem pathology and even myasthenia gravis can be responsible.628, 5433
during surgery or to guide the surgical procedure.19
interstitial cells As classified by Cajal, astrocytes and oligodendroglia of epiblastic origin and microglia of mesoblastic origin.
interossei phenomenon When the arm is stretched out, the fingers abduct in the presence of a pyramidal lesion. See fifth finger sign.
interparietal sulcus A horizontal sulcus separating the superior and inferior parietal lobules.
interpeak interval Difference between the peak latencies of two components of a waveform.
interpotential interval The time elapsing between the corresponding points on two different potentials.19 interpretative cortex The term of Penfield for those parts of the temporal cortex which, when stimulated spontaneously or exogenously, lead to the occurrence of experiential hallucinations or illusions or interpretative responses.4977
interstitial radiotherapy (brachytherapy) A technique for the focusing and collimation of intense beams of gamma radiation in the treatment of deep-seated, inoperable brain lesions.
interventional neurology The subspecialty comprising the performance of therapeutic maneuvers for neurological conditions which rely upon technical procedures (such as CT or MRI, arteriography or electromyography) for the proper direction of the intervention. Nerve blocks, biopsy, angioplasty, thrombolysis, local delivery of chemotherapy, botulinus toxin injection, and trigger-point injection are examples. Most such procedures are not commonly performed by neurologists.3535
intestinal neuronal dysplasia A
condition characterized pathologically by hyperganglionosis in the myenteric and interpretative illusions The term of submucosal plexuses of the colon or small Penfield for illusions of things formerly seen bowel with giant ganglia, isolated or heard or experienced, occurring as heterotopic ganglion cells in the lamina manifestations of spontaneous epileptic propria, and increased acetylcholinesterase seizures. Such phenomena include auditory activity in the parasympathetic fibers of the and visual illusions, illusions of recognition lamina propria and circular muscle. The (de´ja` vu), and illusional emotions.4977 clinical condition presents in infancy with obstinate constipation resembling that of interscapular reflex (scapular reflex) Hirschsprung disease, megacolon, or rectal Contraction of the periscapular muscles in bleeding.2859 response to a tap on the spine between the Multiple endocrine neoplasia syndrome scapulae, described as present in the case of a type 2b, Hirschsprung disease, or lesion of the corticospinal tracts above C5. neurofibromatosis are sometimes associated.
Intersocietal Commission for intestinal pseudo-obstruction the Accreditation of Vascular The occurrence of repeated episodes of smallLaboratories A nonprofit organization bowel dilatation, the clinical picture
established with the support of 11 medical organizations to provide a mechanism for the accreditation of facilities that perform comprehensive testing for vascular disease using noninvasive modalities. Tel: 301-881internuncial cells/fibers Those which relay impulses between major tracts, 8744. Web site: http://www.icavl.org/icavl/ such as the corticospinal, and target neuronal index.htm. cell bodies, such as the anterior horn cells. interstitial brain edema Increase in the amount of water in the extracellular intraoperative monitoring The space adjacent to the ventricles, as a result of use of electrophysiological stimulating and recording techniques in the operating room, increased intraventricular pressure, as occurs with acute obstructive hydrocephalus. in order to detect injury to nervous tissue
suggesting obstruction but without any lesion detectable at operation. The causes include both neuropathic and myopathic disorders. See intestinal neuronal dysplasia, familial visceral neuropathy, megacystismicrocolon-intestinal hypoperistalsis syndrome, and Hirschsprung disease. A variant is the occurrence of the condition as a paraneoplastic syndrome usually associated with small-cell carcinoma of the lung and presenting with intestinal obstruction due to degeneration of the myenteric plexus.
intra-
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intra- (Lat, inside) Prefix denoting inside. intracranial pressure The pressure intracerebral hemorrhage (intraparenchymal hemorrhage) Bleeding into the substance of the brain or its ventricles. Depending on the cause, this may be in the putamen, thalamus, pons, cerebellum, or elsewhere in the subcortical white matter, as is most usual in patients with hypertension; or in the cortex or subcortical regions, as in those with arterial diseases such as cerebral amyloid angiopathy, etc. Arteriovenous malformations, aneurysms, cavernous and venous angiomas, tumors, dural sinus thromboses, coagulopathy and vasculitis are other causes.5162 The clinical diagnosis is suggested by the rapid onset of focal neurological deficits with clinical evidence of raised intracranial pressure, such as reduction in consciousness, headache, or vomiting. Diagnosis is further suggested by (1) the demonstration of an intracerebral hematoma by CT or MRI scan, and (2) at least one of the following: depression of conscious level, unilateral or bilateral paresis, unilateral or bilateral sensory deficit, visual field deficit, impairment of speech or dysphagia or ataxia, and/or the occurrence of sudden severe headache, in the context of acute stroke.
intracerebral steal When there is diminution of response to metabolic factors, for example CO2, a rise in PaCO2 may lead to a fall in regional cerebral blood flow (RCBF). Here, blood is directed away from the diseased brain with abnormal reactivity to the normally reactive brain which can dilate with CO2, or RCBF may be increased in areas of hypocarbia, which is termed intracerebral counter-steal.
intracranial arteritis with spontaneous benign outcome See isolated benign cerebral vasculitis.
Intracranial Hypertension Research Foundation A charitable organization in this field. Address: 6517 Buena Vista Dr., Vancouver, WA 98661. Tel: 360-693-4473. E-mail:
[email protected]. Web site: http:// www.IHRFoundation.org/.
intracranial hypotension See spontaneous intracranial hypotension.
treatments with at least one positive randomized controlled trial, nonsteroidal anti-inflammatory drugs, and metabolic enhancers such as vitamin B2 or coenzyme Q10) should be documented. In the case of cluster headache, failure of at least four of intracranial pressure monitoring Constant assessment of the verapamil lithium, methysergide, melatonin, topiramate, and gabapentin intraventricular pressure by means of a 2417 catheter introduced into the frontal horn of a should have been recorded. lateral ventricle and connected to an external intradural enterogenous cyst A transducer, requiring thus puncture of the brain; or by inserting a hollow metal screw spinal malformation leading to a myelopathic syndrome of spasticity and loss subdurally through a burr hole. The normal intraventricular pressure ranges of pain and touch sensations in infancy or between 0 and 15 mmHg (lower in children). childhood. See also neurenteric cyst. Continuous monitoring, although an invasive intradural meningeal cyst See procedure with some hazards, is the only arachnoid diverticula. reliable way of ascertaining intracranial pressure and thus assists in the management of patients with increased pressures, as that due to intramedullary (Lat, within þ Reye syndrome, coma following subarachnoid marrow) Situated within the brainstem or spinal cord. Even though the lesion may thus hemorrhage or intracerebral hematoma, be far from the medulla oblongata, the word hypoxia, encephalitis, and head injury, with the aim of preventing brain death, which is the is still often used in this confusing manner. However, intrinsic is preferable. typical result of a great increase in such pressure.4366, 4654, 5381 intranuclear rod myopathy A intracranial pressure waves Three pure intranuclear rod body myopathy caused by mutations in the skeletal actin gene principal varieties are described as follows: (ACTA1).1679
inside the cranial cavity, normally 0–10 mmHg and always less than 15 mmHg.
A waves (plateau waves) are sustained increases in intracranial pressure lasting from 5–20 min, followed by a fall to normal levels and are due to episodes of cerebral vasodilation without an increase in blood flow, as during rapid eye movement sleep periods. They indicate poor compliance (or ‘‘venting’’) in response to slight increases in pressure. B waves are much briefer and occur every 1– 3 min, in association with phasic changes in respiration. C waves correspond with spontaneous alterations in arterial perfusion pressure and indicate decreased cerebral vascular resistance.3961
intractable headache Persistence of headache despite an adequate trial of regulatory approved, conventional treatments according to local national guidelines. An appropriate dose should have been taken for an appropriate length of time and medication overuse excluded, but despite this there will have been no satisfactory therapeutic effects nor intolerable side-effects. In the case of migraine, failure of at least four classes of drug (-blockers, anticonvulsants, calcium channel blockers, tricylic drugs, other
intraparenchymal hemorrhage See intracerebral hemorrhage.
intrasellar arachnoid diverticulum See empty sella syndrome.
intrasellar cistern See empty sella syndrome.
intrasellar cyst The presence of an arachnoid cyst within the sella turcica, causing focal erosion of bone, unlike the situation in empty sella syndrome, which does not lead to this finding.
intrauterine seizures Abnormal movements assumed to be a form of epilepsy occurring toward the end of pregnancy, in that the fetus is suffering from pyridoxine dependency or any form of brain dysplasia.489 intravascular lymphoma(tosis) (primary intravascular lymphoma, malignant angioendotheliomatosis, proliferating angioendotheliomatosis,
inverted reflexes
531
angiotropic large-cell lymphoma, malignant angioendotheliomatosis fulminans, and neoplastic angioendotheliomatosis) A rare multifocal angiotrophic large-cell B cell and less commonly T cell lymphoma leading to vascular occlusion of arterioles, capillaries, and venules due to the proliferation of neoplastic lymphoid cells. It may be either systemic or confined to the CNS (including the lower spinal cord). Pathologically, the intravascular collections of large lymphoid B cells are instrumental in causing the multiple microinfarcts2404 Typical presenting syndromes are of multiple subcortical infarcts; paraparesis, pain, and incontinence; subacute encephalopathy; or cranial and/or peripheral neuropathy, all accompanied by nonspecific constitutional symptoms. Patients usually present with progressive encephalopathy, focal neurologic deficits, and seizures associated with skin petechiae or purpura. Other involved organs include the adrenal glands, lungs, heart, spleen, liver, pancreas, genital tract, and kidneys. Anemia, elevated ESR, CSF protein, and serum LDH are commonly found. The mean survival is 6 months from the onset of symptoms. The administration of steroids can cause brief remissions.
intravenous digital subtraction angiography An invasive radiological test in which a large volume of contrast material is injected rapidly, so that the dye travels as a bolus through the pulmonary system, the left heart, and the aorta to the brachiocephalic vessels. Such studies are successful only if the cardiac output is normal, so that the dye travels as a dense bolus. The injection of large volumes of dye may precipitate congestive heart failure or renal failure, and the technique is being supplanted by intraarterial digital arteriography4678 or magnetic resonance angiography.
Recurrent hypersomnia Idiopathic hypersomnia Post-traumatic hypersomnia Obstructive sleep apnea Central sleep apnea syndrome Central alveolar hypoventilation syndrome 11. Periodic limb movement disorder 12. Restless legs syndrome 13. Intrinsic sleep disorder not otherwise specified. 5. 6. 7. 8. 9. 10.
From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Medicine 1991/2001. Reproduced by kind permission of the Academy. See also http:// www.sleepeducation.com/Disorders.aspx/.
intron A segment of a gene.
of a response or of a type of response following a preceding test item or procedure due to proactive inhibition; or the recall of information learned previous to that which was most recently learned and which is now requested. The resemblance to perseveration is close; the difference lies in the fact that the intrusion error occurs not immediately following the first response but even minutes later. In each case, diffuse organic brain disease is likely.2238 In speech, these are known as insertions.
inv dup (15) syndrome A chromosomal disorder resulting in tetrasomy or partial tetrasomy of 15q. The phenotypes are variable but multiple types of seizure, motor delay, hypotonia, facial dysmorphism, and lack of social interaction are common; and mental retardation is always present. See also Prader–Willi syndrome.443
inherent, special to.
disorders that either originate or develop within the body or arise from causes within the body. They are classified as follows:1629 1. 2. 3. 4.
Psychophysiological insomnia Sleep state misperception Idiopathic insomnia Narcolepsy
inverse latent macro square wave jerks An unusual variety of squarewave jerks that are present with binocular vision at a distance but which cease with monocular fixation (i.e., when one eye is closed).
inverse Marcus Gunn pupil See Amin-Amat syndrome and Wartenberg winking-jaw phenomenon. inverse myasthenia See Lambert– Eaton myasthenic syndrome. inverse Uhthoff symptom See Uhthoff symptom.
inversion of the radial reflex intrusions The inappropriate recurrence
intrinsic (from Lat, on the inside) Within, inverse bobbing See ocular dipping. intrinsic sleep disorders Sleep
inverse jaw-winking See Amin-Amat syndrome.
(inverted supinator reflex) A phenomenon described first by Babinski in 1910, comprising the replacement of the brachioradialis reflex by finger flexion. This is taken to indicate the presence of a cord lesion at the C6 level. An increase in the triceps jerk is usually detectable as well.1918
inversion recovery (IR) An MRI pulse sequence which begins by inverting the magnetization of the nucleus with a 1808 pulse and then, after a time (T1), measures the recovery of the magnetization to equilibrium.4510 This sequence provides an image with twice the T1-weighting discrimination of the spin-echo sequence, at the expense of a longer imaging time.
inverted ocular bobbing See reverse ocular bobbing.
inverted optokinetic nystagmus (inverted pursuit) A variant of the normal pattern, in which the fast component of the optokinetic nystagmus is in the direction of the movement of the visual stimulus. This may be seen in some patients with congenital nystagmus.
inverse cerebellum (ventral cerebellum) Grossly abnormal development of the cerebellum such that the folia project ventrally, covering the basilar artery, as a result of inability of the cerebellum to grow in the appropriate direction because of the presence of an occipital encephalocele. The malformation is usually accompanied by other anomalies.5924
inverted pursuit See inverted optokinetic nystagmus. inverted reflexes Occasional variant forms of the usual muscle stretch reflexes, modified in certain conditions by the underlying pathology and the method of elicitation.6656 Contraction of the muscles
inverted supinator reflex
532
supplied by an adjacent segment below that stimulated by the tendon hammer when a reflex is sought in the normal way. Thus, tapping the biceps tendon (C5) leads to contraction of the brachioradialis muscle (C6) when there is a cord lesion at C5 which produces signs of a lower motor neuron lesion at that level but of an upper motor neuron lesion as seen from C6 (Babinski’s inversion of the radial reflex), or tapping the quadriceps tendon (L3, 4) leads to contraction of the hamstrings (L5–S1) with a lesion at L3–4. Despite the inherent logical confusion, the former is known as the inverted supinator reflex, the latter as the inverted knee jerk.787
inverted supinator reflex See
channel myotonias, and congenital myasthenic syndrome. ion channel diseases (channelopathies) A group of disorders caused by mutations in genes encoding ion (sodium, potassium, calcium, chloride) or ligand (glutamate, GABA, glycine, acetylcholine) channels and with clinical expression in any tissue, but predominantly skeletal muscle or the central nervous system. ‘‘Channels’’ are macromolecular protein complexes within the lipid membrane, forming functional pores in the cell membrane through which ions flow to depolarize or hyperpolarize the cell.
Iowa Neuroradiology Library A
iridoplegia interna See Adie syndrome.
iris (Gr, a bright-colored circle) The pigmented contractile organ demarcating the pupil of the eye. irregular generalized spikewave activity (atypical or rapid spikewave activity) The occurrence of generalized bursts of spike and spike-wave complexes, occurring irregularly at about 3.5 –6 Hz, commonly found in patients with idiopathic generalized epilepsy.
irregular potential See serrated action potential.
neuroradiology teaching Web site of the Department of Neurology, University of irregular sleep–wake pattern A Iowa Hospitals and Clinics, found at: http:// condition characterized by variable temporal involuntary crying See emotionalism. www.uiowa.edu/~c064s01/. disorganization of sleep and waking behavior which occur at irregular intervals for involuntary (EMG) activity ipsilesional neglect The unusual irregular durations. Nocturnal sleep is Spontaneous or reflex motor unit action situation in which there is impairment of interrupted and total sleep time is potentials, not under volitional control. cf. processing of stimulus data originating from maintained at a normal level only by 19 spontaneous activity. the side ipsilateral rather than contralateral the individual taking irregular naps by to a hemispheric lesion. An example is that day. Diagnostic criteria are given in inward fits The term of Dr. J. of patients with a right hemispheric lesion Chart I–9:1629 Hughlings-Jackson for laryngismus who deviate their responses to the left in a line stridulus (stridor due to tetany in rickets). bisection task.3623 irritability (from Lat, to provoke) 1. Abnormal excitability. 2. The property of ion channels Transmembrane proteins movement in response to a stimulus, ipsipulsion See saccadic lateropulsion. that allow ions to flow in or out of the cell. possessed by muscles only (Robert Whytt). Sodium and potassium channel activation and inactivation are the basis of action IPSP See inhibitory postpsynaptic irritable legs See Ekbom syndrome. potential’s production and conduction. Over potential. 30 mutations of the muscle channel gene Isaacs syndrome See idiopathic SCN4A, which encodes the muscle voltageIR See inversion recovery. neuromyotonia. gated sodium channel, have been described and associated with neuromuscular disorders like hypo- and hyperkalemic periodic iridoplegia Paralysis or immobility of Isaacs-Mertens syndrome See paralyses, paramyotonia congenita, sodium the iris; thus, loss of all pupillary reflexes. idiopathic neuromyotonia. inversion of the radial reflex.
Chart I–9. Diagnostic Criteria for Irregular Sleep–Wake Pattern A. B. C. D. E.
A complaint of either insomnia or excessive sleepiness Irregular pattern of at least three sleep episodes during a 24-h period Presence of the sleep pattern for at least 3 months Total average sleep time per 24-h period is normal for age Evidence of disturbed chronobiological rhythmicity can be noted by either 1. demonstration of loss of the normal sleep–wake pattern by continuous polysomnographic monitoring for at least 24 h, or 2. demonstration of loss of the normal temperature pattern by continuous temperature monitoring for at least 24 h
F. Absence of any medical or psychiatric disorder that would account for the symptom G. Does not meet criteria for any other sleep disorder causing insomnia or excessive sleepiness From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Medicine 1991/2001. Reproduced by kind permission of the Academy. See also http://www.sleepeducation.com/Disorders.aspx/.
isocortex
533
ischemia (Gr, staunching of blood) Reduction of the blood supply to a region. The term was introduced by Virchow.
production (in certain metabolic myopathies) may be found in abnormal cases.4553 See also myoadenylate deaminase deficiency. A nonischemic form of the test in which ischemia test A method of increasing the isometric exercise is performed at 70% of the sensitivity of repetitive nerve contraction for 30 s stimulation in the diagnosis of myasthenia the maximal voluntary 2944 gravis, in which the ulnar nerve is stimulated has also been proposed. supramaximally at 3 Hz for 4 min, after which the nerve is again stimulated at 3 Hz ischemic monomelic for brief periods every 30 s. The decrement in neuropathy The occurrence of multiple axonal neuropathies in a single limb, the ulnar-supplied muscles is assessed; if none occurs, the arm is made ischemic by a occurring abruptly, simultaneously, and without evidence of muscle necrosis, as a blood pressure cuff inflated above the systolic pressure at a point above the site of result of acute occlusion of, or shunt stimulation, and the procedure is repeated. placement within, a major limb artery.6779 In even mild generalized myasthenia, the first part of the procedure usually induces a ischemic muscular necrosis marked decrement in the amplitude of the syndrome See Bywaters syndrome. muscle action potential; and even if it does not, such a decrement is highly likely under ischemic myopathy A syndrome ischemic conditions.3435 See also regional characterized by changes in muscle which curare test and single fiber histologically resemble those of Duchenne electromyography. muscular dystrophy, but which are due to
ischemic cerebrovascular disease Cerebral ischemia or infarction resulting from reduction of blood flow to part or all of the brain, as opposed to hemorrhage into the brain or its coverings.
ischemic chiasmal syndrome
peripheral vascular disease.1889
ischemic neuropathy Any injury of peripheral nerves caused by compromise of their bloody supply.
ischemic oculopathy A syndrome of
periorbital pain and transient or persistent visual loss resulting from chronic ocular ischemia, as may occur with acute or chronic carotid artery occlusion. Clinically, the major features include tenderness of the globe, episcleral vascular congestion, ischemic conduction resistance conjunctival injection, hyperemia, and Hypoxia may lead to the down-regulation of cellular deposits in the anterior chamber, enzymes, decreased Na-K-adenine neovascularization of the iris (rubeosis triphosphatase activity and consequently iridis), a mid-dilated sluggish pupil, reduced oxygen requirements. This may increased intraocular pressure, attenuated or explain the phenomenon in which damaged dilated retinal vessels, and venous stasis nerves (in diabetes) continue to conduct retinopathy.3502 despite induced ischemia. ischemic optic neuropathy A ischemic forearm exercise test condition of older people who develop A standardized test of muscle glycogenolysis sudden segmental monocular visual field defects (scotomas) as a result of infarction of in which the forearm is made ischemic by occlusion of the brachial artery and blood is the anterior, retrolaminar part of the optic nerve, in the absence of inflammation, nerve sampled from the draining veins before, compression, demyelination, or generalized during, and after work is done with the hypoperfusion. Crowding of the disk is said forearm muscles, sometimes measured by ergometry. In normal subjects, peak lactate to predispose to the condition. In most cases levels (3–5 times the resting levels) are found the cause is not apparent, but, in a few, cranial arteritis, hypertension, diabetes, or at 3 min after cessation of work; both atherosclerosis is diagnosed. The other eye decreases in lactate production (in the may be affected subsequently.703 glycogen storage diseases) and increases in Binasal field defects due to ischemia of the optic chiasm, as a result of atheroma of the cervical or intracranial carotid artery or of the anterior cerebral arteries.6301
In variant forms, the condition follows cataract extraction1037 or complicates collagen vascular disease, migraine, uremia, or severe ocular ischemia.
ischemic papillopathy Swelling of the optic disk in association with ischemic optic neuropathy.
ischemic penumbra A marginal zone of tissue surrounding a brain infarct within which the cells are functionally impaired since they are perfused at a level between the thresholds of functional impairment and morphological integrity. Such metabolically challenged cells are, however, still viable and able to survive and to recover function if perfusion improves.282
ischemic vascular dementia Dementia resulting from cerebrovascular disease. See vascular dementia.
ischuria paradoxa Dribbling incontinence in tabes dorsalis. Ishihara, Shinobu (1879–1959) Japanese professor of ophthalmology at Tokyo, who in 1917 developed isochromatic plates for the detection of various forms of color blindness.3101
Ishihara plates See pseudoisochromatic plates. island of vision The term of Traquair for the variable sensitivities of different parts of the retina to light and contrast, the use of different illuminations of the stimuli yielding a set of values which chart these sensitivities over a large area of the retinal surface. The resultant chart is thus drawn in three dimensions—two for area and one for sensitivity.1840 -ismus A suffix indicating spasm—thus pharyngismus, laryngismus, esophagismus, etc. isocortex The greater part of the sixlayered cortex, consisting of two kinds of cortical structure: (1) The idiotypic cortex (koniocortex) of the primary motor and primary sensory areas which represents the most highly developed part of the cortical mantle, and (2) The homotypical cortex which is the association cortex some of which is unimodal and some heteromodal (polymodal, multimodal, supramodal, polysensory, or
isoeletric focusing
534
high-order association cortex) in its response isolated gait ignition failure (gait to differing kinds of stimulation. apraxia, magnetic gait, slipping clutch gait, lower-half Parkinsonism, arteriosclerotic isoeletric focusing A technique used Parkinsonism, trepidant abasia, Petren gait) A gait pattern characterized by marked to separate IgG on the basis of different difficulty with initiating gait (start charges or isoelectric points. It is the most sensitive test for detecting humoral immune hesitation) and maintaining locomotion (turn responses, and when followed by IgG specific hesitation, freezing) in the absence of impairment of equilibrium, cognition or antibody staining, it is employed in the detection of oligoclonal bands in the CSF.195 limb praxis. Once locomotion is initiated, steps are short and barely clear the ground, giving the gait a shuffling appearance. isoelectric line In electrophysiologic However, with continued stepping, the recordings, the display of zero potential stride lengthens, foot clearance becomes difference between the two input terminals normal, and the arms swing as they should. of the recording apparatus. See baseline. Diversion of the patient’s attention while (From the 2001 Report of the Nomenclature negotiating narrow passages or turning may Committee of the American Association of precipitate freezing and a resumption of Electromyography and Electrodiagnosis.19 shuffling. Certain tricks (such as kicking the Reproduced by kind permission of the bottom of a cane) may be employed by the AANEM.) patient in order to maintain progress. Postural responses and stance base are isokinetic dynamometry A normal, and falls are rare. method of quantitating muscle power which The pattern is associated with lesions of requires subjects to exert their maximum the basal ganglia, or of the frontal lobes or force against that of a hydraulic or motortheir connections. (Adapted from Nutt JG, driven instrument, which then measures the Marsden CD, Thompson PD. Human torque produced at the anatomical joint walking and high-level gait disorders, tested.1560 particularly in the elderly. Neurology 1993;43:268–79. Reproduced by kind permission of the American Academy of isolated benign cerebral vasculitis (benign distal cranial arteritis, Neurology and Lippincott, Williams and Wilkins.) intracranial arteritis with spontaneous benign outcome) A disease of intracranial isolated generalized vessels unassociated with other primary polymyoclonus Acquired generalized pathological processes and demonstrating repetitive myoclonus with subacute onset in segmental narrowing on angiography. Clinically, the condition typically affects adult life, resembling whole-body tremor young adults who present with headache, and usually impairing gait. Malignant or other neurologic dysimmunity and ingestion nausea, and focal deficits. Whether this is truly an inflammatory disease or a of opioids or selective serotonin reuptake manifestation of arteriospasm is inhibitors may be causally related.4239 uncertain.5728 See also Ab angiitis and reversible cerebral vasoconstriction isolated hemihypertrophy A syndrome. congenital dysmorphic syndrome characterized by multiple renal cysts
isolated finger flexion A rare syndrome due to neuromyotonia of the flexor digitorum sublimis muscles, causing progressive, painless, involuntary flexion of the fourth and fifth fingers and eventually leading to contractures. The cause is unknown but may be related to chronic pulmonary obstructive disease or its treatment.4422
isolated neck extensor myopathy An important cause of the dropped head syndrome in elderly people.3326
isolated polymyositis See primary idiopathic polymyositis.
isolated speech deafness See pure word deafness.
isolated trigeminal neuropathy Chronic persistent sensory disturbance of the face, usually numbness in one or more divisions of the trigeminal nerve, affecting responses to pain, temperature, and light touch rather than other sensory modes, but sparing motor functions and without demonstrable pathology or evidence of any lesion compressing the trigeminal nerve fibers.5982
isolated voice tremor Tremulousness of the voice in the absence of tremor in any other body part. Both dystonia of the vocal cords and essential tremor appear to be capable of causing this.1615
isolation aphasia A form of aphasia in which the subject can repeat but cannot speak spontaneously, nor comprehend. See transcortical aphasias (mixed form). isometric contraction Muscle contraction which occurs without any change in the length of the muscle fibers (and thus without movement at a joint), as when pushing against an immovable object.
isometric tremor That form of tremor occurring normally when muscle hypertrophy, and mental and developmental activity is exerted at maximal force against delay.381 an unyielding object, or against the antagonists of the muscle in question. See isolated lissencephaly sequence also tremor. A developmental anomaly characterized by isopter 1. The extent of the visual field type 1 lissencephaly of variable severity, that is plotted with a given stimulus. 2. bitemporal hollowing with a prominent Retinal zones of equal visual sensitivity. occiput, severe or profound mental retardation with minimal developmental progress, early hypotonia and subsequent isothermagnosia The perception of hypertonia, decreased spontaneous thermal stimuli at all temperatures as being
isolated disk reabsorption See disk and tumors, asymmetrical limb reabsorption.
movements, feeding difficulties, and seizures including infantile spasms. Numerous other anomalies may accompany the above, which represent minimal diagnostic criteria.1672
Iwashita syndrome
535
warm—an occasional finding in patients with high spinal cord lesions.
isotonic contraction Muscle contraction which occurs with shortening of the muscle fibers but without any further increase in the tension within them after the initial contraction has occurred, as is the case when an object is lifted from off the ground. isotope cisternography A diagnostic technique for studying the flow of the CSF, useful in the diagnosis of normal-pressure hydrocephalus and in identifying the site of a CSF leak. Radioactive-labeled albumin is injected into the lumbar subarachnoid space and the patient is scanned repeatedly over the next 72 h. Normally, the isotope will be seen to ascend to the basal cisterns in 4–6 h, collecting around the superior sagittal sinus in 24 h, after which it is reabsorbed.
isovaleric acidemia A rare organic aciduria due to deficiency of isovalerylcoenzyme A dehydrogenase, leading to a block in the pathway of leucine catabolism.
The condition is characterized clinically by an intermittent ataxic syndrome in infants, who present with vomiting, ketosis, ataxia, hyperreflexia, and coma, and in whom cardiomyopathy, congenital heart disease, simple partial seizures, intracerebral hemorrhage, and mild mental and motor delay may also be found. Most affected infants die before they are a year old. Aminoaciduria, hyperammonemia, and gliosis and spongy changes in the CNS are characteristic pathological findings. The condition is notable for the odor of stale sweat given off by the child, especially during the acute attacks.931, 2754
Israeli Vertebrobasilar Stroke Scale A valid and reliable score-sheet rating level of consciousness, gaze, visual fields, diplopia, dysarthria or dysphonia, dysphagia, motor functions in the arms and legs, ataxia, sensory functions, and gait.2641
cordotomy suggests that the spinothalamic tract is involved in the transmission of itch-related information, there is persuasive evidence that itch and pain are independent sensory modalities.5432 The subject has been reviewed.6418 (HJM) See also mitempfidungen.
iter cerebelli (Lat, a passage þ cerebellum) The cerebral aqueduct (of Sylvius). iterative discharge See repetitive discharge.
ivory osteomas Slowly growing solid tumors which arise within the nasal sinuses and may extrude into the orbit or the anterior cranial fossa.
Iwashita syndrome A syndrome comprising polyneuropathy, skin hyperpigmentation, edema, hepatosplenomegaly, and hypertrichosis itch An unpleasant sensation that provokes the desire to scratch. Although complicating myelomatosis.3111 See also relief of itch by contralateral ventrolateral POEMS.
j J receptors Receptors lying in the walls of pulmonary capillaries, which when excited cause apnea, hypotension, and bradycardia through vagal stimulation.
Jackson, James (1777–1867)
scientific clinician of the nineteenth century in England. Jackson described the intellectual aura (he disliked the term) or dreamy state-smell, taste, reminiscence (de´ja` vu) and epigastric sensations with chewing movements, and a jabs and jolts syndrome A defect (not a loss) of consciousness, which he Jackson, John Hughlings (1835– syndrome of head pain in which brief had first described in 1876. He applied the 1911) One of the greatest figures in the stabbing pains lasting a second or a few term uncinate fits in 1899. His best-studied history of neurology. He was born in seconds appear in various locations, or Yorkshire and apprenticed to a physician in patient was a physician, Dr. Z., who lived sometimes in a single localized area. The jabs York before further training at close by Jackson’s house6235 and who later may occur in isolation or in association with St. Bartholomew’s Hospital in London. died from an overdose of chloral; at autopsy a other headaches such as migraine or cluster Thereafter he worked in a Poor-Hospital in small patch of softening was found in the left headaches. The phenomenon is probably the York and then at the London Hospital and uncinate region. His description of the basis same as a prolonged ice-pick pain.5877 Moorfields Eye Hospital. Brown-Se´quard of epilepsy—occasional, sudden, rapid, local, helped to secure his appointment as assistant and excessive discharge of gray matter—has physician to the National Hospital in 1862 never been bettered. jack-in-the-box phenomenon and he joined the staff of the London He introduced the routine use of the The appearance as though objects were ophthalmoscope; described a patient with jumping about; a distortion of vision due to Hospital in the following year. He was aberrations produced by wearing strong plus elected a fellow of the Royal Society in 1878, Tourette syndrome in 1865; expounded his the same year in which he, with others, system of levels of organization in Brain lenses. founded the journal Brain. He retired from (1887); and divided speech into the practice at the London Hospital in 1894 and propositional and emotional, regarding jack-knife convulsions See jack knife from the National Hospital in 1906. aphasia as a loss of propositional speech. His spasms. It was by his work at these hospitals that studies of epilepsy, aphasia, apraxia, stroke, Hughlings-Jackson, out of the chaos of functional localization, and levels of speculative and descriptive medicine, organization within the nervous system were jack knife spasms (jack-knife made without his ever performing a convulsions, infantile spasms, salaam attacks) organized and laid the foundations of laboratory experiment.6155 Jackson’s Massive myoclonic jerks with trunk flexion modern neurology and became himself, as seen in West syndrome. See flexor spasms. without doubt, the greatest neurologist and contributions in the area of speech were American physician, professor at Harvard, who described alcoholic polyneuropathy in 1822.
Jacod syndrome (triad)
537
summarized by Head2811 as follows: The differentiation between speechlessness and plentiful words wrongly used, between internal and external speech and between intellectual and propositional speech; the statement of the principle that the loss of power of performance varies with the complexity of the act; the recognition of the power of intellectual expression by movements of any kind; and the characterization of agnosia as nonlanguage aphasia. Jackson also described the evolution and dissolution of the nervous system, noting that the symptoms observed after a lesion could not be produced by the part which has been destroyed but must be the result of the activity of surviving parts of the brain which in many cases are to be regarded as having been released from some form of higher control. In his Selected Writings (Oxford, Oxford University Press, 1931) there are 32 papers relating to seizure disorders in the first volume, and 37 on dissolution in the brain, brain tumors, speech, optic neuritis, disorders of other cranial nerves, and other subjects in the second. His contributions in ophthalmology were summarized by Taylor in 1915,6238 who noted Jackson’s recognition of the importance of the use of the ophthalmoscope; the nature of optic neuritis and atrophy; the occurrence of headache as a result of refractive errors; ocular vertigo; and the anatomical innervation of levator palpebrae superioris by the fifth as well as the III cranial nerve in the Marcus Gunn syndrome. Walshe6625 considered that the areas most influenced by Jackson were: (1) The nature of the relationship between mind and brain, noting that Jackson adopted the doctrine of psychophysical parallelism—mental states arose during but not from the activities of the brain; (2) on movements and their organization; (3) speech and loss of speech; (4) the duality of symptoms—positive and negative; (5) the hierarchy of levels in the nervous system; (6) the meaning of the term representation; and (7) evolution and dissolution in the nervous system. Broadbent856 published a full review of Jackson’s work during his lifetime. The work An Introduction to the Life and Work of John Hughlings Jackson with a Catalogue Raisonne of His Writings. York GK, Steinberg DA. 2006. (London: Wellcome Trust Centre for the History of Medicine) represents yet more recent scholarship.
Jackson cerebellar ‘‘fits’’ (Stewart– Holmes syndrome, Holmes–Stewart syndrome) A form of movement disorder in which the head is drawn back, the spine extended, the forearms and hands flexed with the arms kept to the sides, and the legs extended. A persistent hyperextended posture remains present between the attacks. Originally described by Jackson in 1871 as resembling seizures, the invariable presence of posterior fossa pathology causing raised intracranial pressure suggests that this rather resembles tonic decerebrate posturing.3128 Wurffbain had described the same entity in 1671. Holmes’ name is also applied to this syndrome, but in his paper he made it plain that he had never seen what Jackson had described.6062
Jackson’s laws 1. Those neural
1886.4003 The two syndromes are considered sufficiently alike as to allow their fusion.
Jackson–MacKenzie syndrome See Jackson syndrome.
Jackson-Weiss syndrome A dominantly inherited form of craniosynostosis also characterized by large, broad toes and fusions of the tarsal bones. It is mapped to chromosome 10q.
Jacksonian epilepsy See Jacksonian march.
Jacksonian march (Jacksonian epilepsy, Bravais–Jackson epilepsy) The spread of tonic-clonic epileptic movements through contiguous body parts on one side of the body as the causative epileptic discharge successively excites adjacent cortical regions.3124, 16 Dr. L. Bravais had described the same events in his graduation thesis of 1827 for the University of Paris, but contributed no analysis of their cause.
functions that are most lately developed are also the first to be lost. This is restated in a variation as Jackson’s rule: After epileptic attacks, simple nervous processes are more quickly regained than are complex ones. 2. ‘‘The study of the causes of things must be preceded by the study of things caused.’’ Jacob disease (spastic pseudosclerosis) See Wilson disease.
Jackson syndrome (Jackson– MacKenzie syndrome, alternating hypoglossal hemiplegia) A brainstem disorder, the main clinical features being homolateral IX, X, and XII cranial nerve palsies, producing anesthesia of the pharynx and larynx, paresis of the soft palate, sternomastoid and trapezius muscles and of the tongue, and contralateral hemiparesis, usually occurring as a result of a medullary tegmental stroke or tumor.3125, 6147 Some indicate that the XI nerve is also affected, but the condition of the trapezius and sternomastoid muscles was only mentioned by Jackson in an earlier report of his case, a patient who also had syphilis or tuberculosis and who had suffered a number of prior vascular events as a result of severe and generalized atheroma. This is thus another type of alternating hemiplegia. The syndromes of Tapia and of Schmid are variants. Sir Stephen Mackenzie (1844–1909) trained at the London Hospital and in Berlin, returning to join the staff of the London Hospital, where he worked as a pathologist and dermatologist. He reported two cases of unilateral bulbar paresis in
Jacobsen, Ludwig Levin (1783–1843) Danish physician and anatomist. His name is appended to the tympanic plexus and canal as well as to the nerve.
Jacobsen nerve The tympanic branch of the IX cranial nerve.
Jacobsohn reflex Flexion of the fingers in response to a tap on the lower end of the radius. When enhanced, this may be evidence of a pyramidal tract lesion or of heightened emotional tone, or it may be normal.6656 Dr. L. Jacobsohn was a German neurologist in Berlin.
Jacod syndrome (triad) (Negro– Jacod syndrome, petrosphenoidal space syndrome) Dysfunction of cranial nerves II, III, IV, V, and VI in the retrosphenoidal space, due to compression or infiltration by tumors of the middle cranial fossa such as nasopharyngeal carcinomas. Unilateral visual loss, progressive ophthalmoplegia, and trigeminal pain and numbness are the presenting features.3139
Jacod-Rollet syndrome
538
His most important contributions Negro described the syndrome from Italy Jaeger test types A visual test card in 1921, and Jacod from France in the same using the printers’ designation of type sizes. concerned cerebral trauma, demyelination, neurosyphilis, extrapyramidal diseases, and year. Jaeger 1þ is equivalent to 20/20 vision. brain anatomy and histology. Alpers Jacod-Rollet syndrome Jaffe–Lichtenstein syndrome See described the disease bearing Jakob’s name, having worked on the case with him in his Dysfunction of the optic nerve with fibrous dysplasia.3148 laboratory. The paper on three patients with exophthalmos, due to optic gliomas or other this form of dementia was received 9 months tumors at the orbital apex or aneurysm of the Jahnke syndrome A variant of after that of Creutzfeldt and was published internal carotid artery. Sturge–Weber syndrome in which in the following year.3150 glaucoma does not occur. See jactitatio capitis nocturna encephalofacial angiomatosis. Jakob–Creutzfeldt disease See (headrolling, body rocking, body rolling, rhythmie du sommeil) A form of ritualistic jake paralysis (Jamaica ginger paralysis) Creutzfeldt–Jakob disease. movement performed by some infants and A clinical syndrome due to poisoning by Jamaican ginger paralysis See Jake young children and consisting of rhythmic triorthocresyl phosphate, a chemical paralysis. movements of the head, frequently introduced as a contaminant by the persisting through the night. A group of American makers into an (illicit) alcoholic stereotyped, repetitive movements involving extract of ginger sold in the Southern United Jamaican neuritis See Strachan large muscles, usually of the head and neck, States around 1929, and later by others into syndrome. typically occurring immediately prior to cooking oil sold in Algeria and Vietnam. At Jamaican neuropathy A form of sleep onset and sustained into light sleep. See least three notorious outbreaks resulted. tropical myeloneuropathy of unknown also headbanging. Diagnostic criteria have Symptoms include cramping leg pains cause(s), manifesting spastic and ataxic been suggested and are given in and weakness proceeding to quadriparesis Chart J–1.1629 due to a severe motor neuropathy and later variants. Clinically the disease has its onset in adult life and leads to weakness, sensory due to an upper motor neuron syndrome, ataxic gait, numbness or dysesthesias in the jactitation (Lat, to pour forth frequently) which improves only minimally.4477 legs, distal loss of proprioception and Originally a restless tossing of parts of the vibration, and decreased muscle stretch body; but now the word is used for repetitive Jakob, Alfons Maria (1884–1931) reflexes (ataxic form) or to a radicular back movements resembling myoclonus. German neuropathologist. He studied medicine at Munich, Hamburg, and Berlin, pain, spastic gait, bladder disturbances, Jadassohn nevus phakomatosis graduating at Strasbourg in 1908 and later increased muscle stretch reflexes, and upgoing plantar responses with few sensory See epidermal nevus syndrome.3145 worked with Kraepelin, Nissl, and Alzheimer. After World War I he returned complaints (spastic form). (See also tropical spastic paraparesis.) Optic atrophy, deafness, Jaeger, Eduard Ritter von to Hamburg where he practiced academic Jaztthal (1818–1884) Austrian and private neuropsychiatry and headed the and an axonal peripheral neuropathy may occur in either form.396 ophthalmologist who, in 1860, introduced anatomical laboratory of the university psychiatric clinic until his early death. the test types still in occasional use today. Jamaican optic neuropathy A rapidly progressive bilateral optic neuropathy of unknown cause, resulting in Chart J–1. Diagnostic Criteria for Jactitatio Capitis Nocturna dense central scotomas, reported so far only among West Indian and West African A. Rhythmic body movements occurring during drowsiness or sleep. people.1971 B. At least one of the following types of disorder is present: 1. 2. 3. 4.
The head is forcibly moved in an anterior–posterior direction—head-banging type The head is moved laterally while in a supine position—head-rolling type The whole body is rocked while on the hands and knees—body-rocking type The whole body is moved laterally while in a supine position—body-rolling type
C. Onset typically occurs within the first 2 years of life. D. Polysomnographic monitoring during an episode demonstrates: 1. Rhythmic movements during any stage of sleep or in wakefulness and 2. Absence of seizure activity in association with the disorder
E. Absence of any other medical or psychiatric disorder that causes the symptom, e.g., epilepsy. F. Does not meet the diagnostic criteria for other sleep disorders producing abnormal movements during sleep, e.g., sleep bruxism. See also head banging.
Jamaican vomiting sickness A severe metabolic encephalopathy due to poisoning with hypoglycine A (present in unripe akee fruit) and characterized by anorexia, vomiting, progressive encephalopathy, and elevation of serum ammonia levels, thus resembling Reye syndrome6180, 4453 or glutaric acidemia type 2.
jamais ve´cu (Fr, never þ lived) The sensation that although the current From AASM Diagnostic Classification Steering Committee. The International Classification of Sleep Disorders situational experience is in fact well known, Diagnostic and Coding Manual. Rochester, MN. American Academy of Sleep Medicine 1991/2001. Reproduced it appears strange, as if it were completely by kind permission of the Academy. See also http://www.sleepeducation.com/Disorders.aspx/. unfamiliar. This is occasionally a normal
Jeavons syndrome
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percept but is typically considered to be a feature of complex partial seizures arising from a lesion in the mesial temporal neocortex.4977 See also jamais vu.
jamais vu An awareness that although the visual percepts are well known, they appear strange as if they were completely unfamiliar. This is occasionally normal, but it is typically considered also to be a feature of complex partial seizures arising from a lesion in the mesial temporal neocortex.4977 See also de´ja` vu and jamais ve´cu.
James–Lange theory The hypothesis that emotion merely represents the perception of the autonomic changes induced by exciting causes.3154 ‘‘Anger, fear, love, hate, joy, grief, shame, pride, and their varieties, may be called the coarser emotions, being coupled, as they are, with relatively strong bodily reverberations. Our natural way of thinking about these coarser emotions is that the mental perception of some fact excites the mental affection called the emotion, and that this latter state of mind gives rise to the bodily expression. My theory, on the contrary, is that the bodily changes follow directly the perception of the exciting fact, and that our feeling of the same changes as they occur is the emotion.’’ But, one might ask, what evokes the bodily changes in the first place?
Japanese encephalitis Direct infection of the brain with a flavivirus member of the togavirus group of arboviruses, occurring in India, China, and adjacent countries of the Far East and borne by mosquitos. Clinically, the condition is most likely to cause disease in children and the elderly, in whom a syndrome of aseptic meningitis with headache, malaise, fever, headache and added confusion, muscle weakness, extrapyramidal and other focal signs, and sometimes convulsions occur, progressing in severity. Acute flaccid paralysis is a variant presentation. The disease carries a mortality of up to 40%.6858 Other neurotropic flavivirus encephalitides include St. Louis, West Nile, Murray Valley, Russian Spring-Summer, Western and Far-Eastern tick-Borne, and louping ill.5948 See also the home page of CDC Japanese Encephalitis. http://www.cdc.gov/ncidod/ dvbid/jencephalitis/facts.htm. Jarcho–Levin syndrome A recessively inherited congenital developmental disorder characterized by facial dysmorphisms, short stature, hemivertebrae, block vertebrae, missing vertebrae, and spina bifida.2326 In a variant form, the condition is dominantly inherited.
jargon 1. (undifferentiated jargon) Recurrent, stereotypical utterances which are not in context with the current subject Janin tetanus See Rose disease. of conversation. 2. A form of speech containing many neologisms but with a Jannetta procedure Microvascular preserved syntactical framework, the use of decompression of branches of the basilar some grammatical words, phonemic artery impinging on emerging cranial variability, and the preservation of nerves, as in trigeminal neuralgia or appropriate intonation and stress. 3. hemifacial spasm. The risks of posterior fossa Specialized terms relating to a profession or surgery are significant, although uncommon occupation that are appropriately used by in the hands of an experienced surgeon, but only professionals in conversation with the results of this procedure can be lifeeach other. Although jargon is sometimes enhancing. used as a pejorative, this definition Dr. P.J. Jannetta is a contemporary nevertheless reflects the philosophical American neurosurgeon. basis of this book. Jansky-Bielschowsky lipofuscinosis See neuronal ceroid
jargon aphasia Fluent, paraphasic speech which is grammatical and profuse but lipofuscinosis. so distorted by phonetic and phonemic errors as to be incomprehensible. The phenomenon Janz syndrome See juvenile myoclonic is usually evidence of a posterior hemispheric lesion. epilepsy of Janz.
Jarisch syndrome See Gorlin–Goltz syndrome.
Jasper, Herbert Henri (1906–1999) American-born neurologist, electroencephalographer, and experimental neurophysiologist who worked with Penfield at the Montreal Neurological Institute in Canada, investigating brain function using electrical clues. His pioneering work on brain stimulation in the conscious patient contributed hugely to our understanding of cerebral localization and to the successes of Penfield in epilepsy surgery. He was Penfield’s coauthor in their landmark book Epilepsy and the Functional Anatomy of the Human Brain. From 1960 he was executive secretary of the International Brain Research Organization.1990
jaw jerk See jaw reflex. jaw reflex (masseter reflex, mandibular reflex, jaw jerk) Contraction of the masseter and temporalis muscles in response to a brisk downward tap on the lower teeth or on a finger placed on the mental region. Usually invisible, the movement of the jaw can be seen and felt in cases of bilateral suprapontine disease (spastic bulbar palsy). The reflex was first described by de Watteville in 1886.6656, 2982 jaw winking See Gunn phenomenon. jaw-closing spasm Involuntary paroxysmal contractions of the masseter muscles causing sudden opening, deviation, or closing of the jaw, and probably representing an unusual focal dystonia. Jeanne sign Hyperextension of the metacarpophalangeal joint of the thumb in patients with partial paralysis of the flexor pollicis longus muscle due to an ulnar nerve lesion, this nerve often assisting the median nerve in supplying that muscle.
Jeavons syndrome (eyelid myoclonia with absences) An uncommon, genetically determined reflex idiopathic generalized epilepsy syndrome with onset in childhood or youth, seen especially in girls who exhibit brief but very frequent attacks of eyelid myoclonia with or without absences, eye closure–induced seizures, EEG paroxysms, and photosensitivity. Spontaneous or photicinduced GTCS are sparse and avoidable but
Jefferson, Sir Geoffrey more common in the presence of sleep deprivation, alcohol, and inappropriate AED modifications. Myoclonic jerks of the limbs are infrequent features. Video-EEG shows frequent and brief high-amplitude 3–6 Hz generalized spike and wave discharge of mainly polyspikes, which generally occur after eye closure, frequently associated with eyelid myoclonia. Photoparoxysmal responses occur in all untreated young patients. Dr. Peter Jeavons was a psychiatrist and clinical neurophysiologist in Birmingham, England, practicing in the second half of the twentieth century.
Jefferson, Sir Geoffrey (1886–1961) English neurosurgeon at Manchester. He described the syndromes resulting from aneurysms of the internal carotid artery in the cavernous sinus, pointing out that the trigeminal nerve is variably involved, that anterior aneurysms involve the first division only, that those in the middle of the sinus affect the first and second divisions, and that posterior aneurysms affect all three divisions.3179, 3180 See cavernous sinus syndrome.
Jefferson syndrome See cavernous sinus syndrome.
Jendrassik, E. (1858–1921) Hungarian neurologist in Budapest.
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deviation in one direction (drift) is slower than that of the restitution phase (correction).
Jeune syndrome 1. (Jeune–Tommasi
syndrome) A recessively inherited disorder of childhood, characterized by the presence of pigmented spots on the skin, polydactyly, short limbs and ribs, severe nerve deafness, jerking stiff-man (person) optic atrophy, hypotonia and ataxia, and syndrome A syndrome with onset in mental retardation. The condition is young adult life, characterized by progressive to death due to myocardial progressive scoliosis, cerebral atrophy, sclerosis or renal failure.3219 cerebellar and pyramidal signs, downbeat 2. (Jeune asphyxiating thoracic dystrophy, nystagmus, axial rigidity, leg rigidity, thoracic-pelvic-phalangeal dystrophy) A stimulus-sensitive myoclonus, and muscle recessively inherited syndrome characterized cramps.99 See also stiff person syndrome. by cone-shaped phalangeal epiphyses; jerk-locked averaging A technique pigmentary retinopathy; pelvic bony changes; and small, shortened ribs, which for back-averaging the EEG with respect to a may cause death from respiratory myoclonic discharge recorded on the insufficiency during infancy as a result of simultaneously recorded EMG. It is used to thoracic constriction.4742 Hepatic or renal study the scalp distribution of myoclonusfailure leads to death in childhood in those related spikes or the time interval separating who escaped that fate earlier. an EEG spike and a myoclonic discharge, and for the detection of myoclonus-related EEG Jeune–Tommasi syndrome See spikes which may be undetectable on the usual polygraphic record.5795 Time-locking Jeune syndrome. is seen with cortical but not with reticular reflex myoclonus. Jewish Genetic Diseases An informational site on genetic diseases more jerk-locked evoked potentials A commonly seen in Jewish populations. Web technique for studying cortical excitability site: http://www.mazornet.com/genetics/ following a myoclonic jerk. The stimulus is index.htm. presented at varying times in relation to a myoclonic discharge and the EEG and jiggle Shape variability of motor unit EMG are back-averaged using the EMG action potentials recorded with a pulse as a trigger. In cortical reflex conventional EMG needle electrode. myoclonus, cortical excitability can be A small amount occurs normally. demonstrated thus. In conditions of disturbed neuromuscular
Jendrassik maneuver The induction of sustained voluntary contraction of distant muscle groups in order to enhance the Jervell–Lange-Nielson muscle stretch reflex responses, described by syndrome A recessive disorder Jendrassik in 1883.3195 characterized by sensorineural deafness, mutism, heart block (prolonged Q-T Jennings syndrome (endocardial interval), recurrent syncope, and a tendency fibroelastosis with neurological dysfunction) to sudden death.2066 A congenital dysmorphic syndrome manifesting genital maldevelopments, Jervis syndrome A congenital familial cardiomyopathy, hypoglycemia, seizures, syndrome of inconspicuous and plagiocephaly, and mental and nonprogressive cerebellar signs and mental developmental delay. deficiency, occurring in both sexes but
transmission, including early reinnervation and myasthenic disorders, the variability can be sufficiently large to be easily detectable by eye. Quantitative methods for estimating this variability are not yet widely available. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.)
leading to death in the first year of life in the more severe cases. Degeneration of the granular layer and Purkinje cells of the cerebellum and of the inferior olives is noted.3216
jimpy mice A strain of mouse affected by a mutation of the X chromosome affecting the proteolipid gene and leading to a form of demyelination, which provides an animal model for Pelizaeus–Merzbacher disease.
jerk nystagmus That form of
jet lag See rapid time zone change.
nystagmus in which the speed of the deviations of the eyes differs in the two directions, and in which the speed of eye
Jeune asphyxiating thoracic dystrophy See Jeune syndrome.
jimson weed Datura stramonium, a plant whose pods, stems, and leaves contain atropine and scopolamine. Ingestion leads to an acute anticholinergic syndrome with
Jensen syndrome A mitochondrial disorder (Xq22, DDP protein) presenting with optic atrophy causing blindness, sensorineural hearing loss, dementia, and muscle wasting.
Joseph disease
541
pupillary dilatation, psychosis, hyperpyrexia, and hallucinosis.
Johnson syndrome (adherence
syndrome, oculomotor pseudoparalysis) Fibrosis of any of the oculomotor muscles in early childhood (but usually the lateral or jitter The variability of consecutive superior recti), leading to the appearance of discharges of the interpotential interval between two muscle fiber action potentials palsy but distinguished by the results of belonging to the same motor unit. Usually forced duction tests, which are abnormal. is similar but affects both expressed quantitatively as the mean value of Duane syndrome lateral recti.3230 the difference between the interpotential intervals of successive discharges (the mean consecutive difference, A/CD). Under certain joint position sense (conscious and conditions, it is expressed as the mean value unconscious proprioception) The faculty of being able to localize the position of of the difference between interpotential intervals arranged in the order of decreasing stationary body parts without the aid of vision. The pathways ascend to the thalamus interdischarge intervals (the mean sorted in the posterior columns of the spinal cord. difference, MSD). See single fiber electromyography. (From the 2001 Report cf. kinesthesis, the discernment of movement at joints. The afferent pathways of the Nomenclature Committee of the American Association of Electromyography are the same at peripheral and spinal levels and Electrodiagnosis.19 Reproduced by kind but diverge at the thalamus. permission of the AANEM.) Jolliffe syndrome The encephalopathy jittery legs See burning feet syndrome. of pellagra.
Joffroy, Alexis (1844–1908) French physician, practicing in Paris.
Jolly, Friedrich (1844–1904) German neurologist.
Joffroy reflex Contraction of the glutei Jolly sign The position of abduction of the shoulder and flexion of the elbow adopted by people with C7 root lesions. When bilateral, the sign is also known by the names of Bradburne or Thorburn.
migraine, and in those conditions causing cerebrospinal fluid pleocytosis.6432
Jones syndrome A congenital dysmorphic syndrome characterized by short trunk and neck, lordosis, scoliosis, skeletal deformities, platyspondyly, dolichocephaly, J-shaped sella turcica, and mental and developmental delay.381
Joplin ‘‘neuroma’’ Interdigital neuropathy of the foot comprising isolated compression of the medial plantar nerve, causing pain and numbness of the medial aspect of the hallux. Though called a neuroma, the tissue expanding and compressing the nerve is actually fibrous.3245
Jorgenson syndrome A congenital X-linked or autosomal dominant dysmorphic syndrome also manifesting short stature, strabismus, ptosis, blepharophimosis, xerophthalmia, and often resulting blindness, various skeletal maldevelopments, microcephaly, cortical hyperostosis, and mental and developmental delay.3248
Joseph disease 1. (SCA 3, Machado– Joseph disease, Azorean neuropathy, nigrospinodentatal degeneration, ataxia plus, autosomal dominant cerebellar Joffroy signs 1. Failure of the forehead to atrophy with optic atrophy, dementia, wrinkle on upward gaze in dysthyroid Jolly test A technique described by Dr. extrapyramidal signs and lower motor 3224 ophthalmopathy. 2. Impairment in tests Friedrich Jolly,3243 who applied an electric neuron lesions, Azorean ataxia, nigroof simple arithmetic as an early sign of current to excite a motor nerve while spino-dentatal degeneration, dominant 5333 general paresis of the insane. recording the force of muscle contraction. striatonigral degeneration; OMIN 109150) The method was layer refined by recording A dominantly inherited multisystem Jogger’s foot See medial plantar the M waves evoked by repetitive disorder with differing phenotypes, neuropathy. supramaximal nerve stimulation (at manifesting variously progressive cerebellar 2–50 Hz) to detect a defect of neuromuscular ataxia, dystonia, progressive external ophthalmoplegia, and peripheral Johnson, Dr. Samuel (1709–1784) transmission. (Adapted from the 1987 Report of the Nomenclature Committee of neuropathy and mapped to 14q24–q32, English lexicographer and author. James the American Association of where there is expansion of an unstable Boswell’s invaluable biography and other Electromyography and Electrodiagnosis. trinucleotide CAG repeat. The disease is descriptions, as perceptively analyzed by AAEE glossary of terms in clinical seen in descendants of William Machado, Prof. T.J. Murray of Dalhousie University, once a resident of Sao Miguel in the Canada, have made it clear that he suffered electromyography. Muscle Nerve Portuguese Azores Islands. The name from Tourette syndrome. His mannerisms, 1987;10S:G5–G23. Copyright 1987 by ‘‘Joseph’’ is the surname of the Portuguese– vocal utterances, and habits were recognized John Wiley and Sons. Inc. Reprinted by permission.) The term was formerly used for Californian family in which this disease by Johnson himself as abnormal and by repetitive nerve stimulation. was described in 1976.5410, 5987 others as bizarre or frightening, but the brilliance of his intellect and the wit of his The condition is best classified with the conversation diminished, within the minds jolt accentuation Worsening of a progressive late-onset cerebellar ataxias of of his companions, the relevance of such headache when the patient’s head is rotated unknown cause until the underlying eccentricities. He described poignantly the to-and-fro by the examiner 2–3 times each biochemical defect is ascertained. Three effects upon his speech of the left overlapping phenotypes have been second. The phenomenon is commonly hemispheric stroke which he suffered in the present in patients with intracranial described1302 and all three have been last year of his life. pathology of many kinds, including recorded in each of the separate families with pressure on the buttocks, seen in patients with paraparesis.
Joubert syndrome affected; the major clinical features are as follows:4584 1. Nigrospinodentatal degeneration with nuclear ophthalmoplegia (Joseph phenotype) A form with onset in the second or third decade, with ophthalmoplegia, pyramidal and extrapyramidal signs (chorea, dystonia, rigidity), facial myoclonus, face and tongue fasciculations, prominent eyes due to lid retraction, and death by the age of 45 years. 2. Dominant striatonigral degeneration A form with onset in adult life (20–45 years) and characterized by the same ophthalmoplegia, face and tongue fasciculations, pyramidal and extrapyramidal signs, and marked ataxia. 3. Machado disease A late-onset variant, beginning after the third decade and characterized by progressive cerebellar gait ataxia, hyporeflexia, hypotonia, distal atrophy, and distal sensory loss.
Eventually, peripheral neuropathy is common to all types, but initially the presentations tend to be with ataxia, progressing to ataxia with peripheral neuropathy, and eventually to ataxia with peripheral neuropathy and striatal signs.2166 Rapid eye movement sleep disturbance is a common problem, especially in patients with the Joseph phenotype. Variants include forms with pigmentary retinal degeneration, myoclonus and deafness, essential tremor, late onset (usually over 50 years), periodic expression, and features of spinal muscular atrophy. See motor neuronal diseases. 2. A recessively inherited congenital syndrome consisting of mental retardation; renal disease; urogenital malformations; sensorineural deafness; convulsions with hyperprolinemia; and the increased urinary excretion of proline, hydroxyproline, and glycine.3249 A relevant Web site (http://www.ijdf.net/) is that of the International Joseph Disease Foundation, which provides medical referrals, updates, and support to those interested in Machado–Joseph disease.
Joubert syndrome A rare, recessively inherited congenital malformation characterized clinically by episodic tachypnea and apnea, hypotonia, colobomas of the iris and retina, pigmentary retinopathy with blindness, ptosis due to congenital ocular fibrosis, torsional nystagmus, ocular apraxia, skew deviation of the eyes, renal lesions, syndactyly, microcephaly, cerebellar vermis hypoplasia
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with ataxia, Dandy-Walker malformation, cranial meningocele, and global developmental delay. Many other associated abnormalities have been described, including hypersensitivity to noise, autism, low-set ears, polydactyly, retinal dysplasia, renal cysts, soft tissue tumor of the tongue, liver disease, and duodenal atresia.3594 The condition is genetically heterogeneous.6945 Although the disease is nonprogressive, most affected children die at an early age as the result of their neurological and other problems.3251 MRI studies show displacement and agenesis of cerebellar structures and very deep interpeduncular fossae at the level of the midbrain (molar tooth sign). The following seven variants are recognized:4992
journal examining aspects of nervous system disorders in children and adolescents. Web site: http://bcdecker.combcdecker/ soc3.asp?bjid¼69.
Journal of Clinical Neuromuscular Disease A subspecialty journal published by Lippincott Williams and Wilkins. Web site: http://www.jcnmd.com/.
Journal of Clinical Neurophysiology A specialist journal. Web site: www.clinicalneurophys.com.
Journal of Clinical Neuroscience
The official journal of the Neurosurgical Society of Australasia, the Australian Association of Neurologists, the Australian and New Zealand Society for Neuropathology, the Taiwan Neurosurgical Type 1 (9q34.3) A form characterized by the Society, and the Asian/Australian Society of infantile onset of ataxia, nystagmus, Neurological Surgeons, published by vertical gaze paresis, oculomotor apraxia, Harcourt Brace. Web site: http:// ptosis, pigmentary retinopathy with www.harcourt-international.com/journals/ colobomas, rhythmic tongue protrusion, jocn/.
episodic hyperpnea or apnea, and mental retardation. Type 2 (cerebello-oculo-renal syndrome) (11p12) A variant characterized by the infantile onset of ataxia, hydrocephalus, and episodic hyperpnea or apnea, to which are added visual impairment (colobomas), renal cysts, and facial dysmorphism with depressed nasal bridge, hypertelorism, and a high-arched palate. Type 3 (6q23.2) A form with neonatal onset, manifesting breathing problems, hypotonia with motor delay, impaired vision, and kyphoscoliosis, as well as the features common to all forms as above. Type 4 (2q13) A mild form of the syndrome. Type 5 (12q21) A form presenting with mild motor delay and hypotonia, head tilt, breathing abnormalities, and retinal dystrophy. Type 6 (8q21) A variant characterized by early onset of mild to severe disability. Type 7 (16q12) A form showing ataxia, developmental delay, ptosis; nystagmus, scoliosis, polydactyly, and renal failure later in childhood.
Journal of Cognitive Neuroscience A neurological subspecialist journal. Web site: http://jocn.mitpress.org/.
Journal of Communication Disorders A neurological subspecialist journal. Web site: http://www.elsevier.com/ wps/find/journaldescription.cws_home/ 505768/description#description.
Journal of Comparative Neurology ( J Comp Neurol) A neurological/neuroscience journal. Web site: http://eu.wiley.com/WileyCDA/ WileyTitle/productCd-CNE.htm.
Journal of Epilepsy ( J Epilepsy) A neurological subspecialist journal. Address: Butterworth Heinemann, 80 Montvale Ave., Stoneham, MA 02180. Web site: http:// www.ingentaconnect.com/content/els/ 08966974.
See also cerebellar syndromes (congenital Journal of Geriatric Psychiatry and Neurology ( J Geriatr Psychiatry ataxias). Neurol ) The official journal of the Alzheimer Foundation. Web site: http:// Joubert syndrome with jgp.sagepub.com/. orofaciodigital anomalies See Egger syndrome.
Journal of Nervous and Mental Journal of Child Neurology ( J Child Disease ( J Nerv Ment Dis) A private Neurol ) An interdisciplinary subspecialty
publication founded by James S. Jewell of
jugular foramen syndrome
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Chicago in 1874 and owned at one time by Dr. Bernard Sachs of New York. The journal emphasized psychiatric rather than neurological articles, although in part this was due to the relative numbers of articles submitted, and in 1919 turned further toward psychiatry with the founding of the rival Archives of Neurology and Psychiatry. Web site: http://www.jonmd.com/pt/re/ jnmd/home.htm;jsessionid¼Lh1X6n0z XRLDJYbBZKhnbZR47pfbwTVW24y2D LmRHyT362hCYzhS!834597482!181195 629!8091!-1.
Journal of Neuroimmunology A professional research-based journal. Web site: http://www.elsevier.nl/locate/ jneuroim.
The Journal of Neuroscience Online The official journal of the Society
Journal of Tropical and Geographical Neurology ( J Trop
for Neuroscience.
Geogr Neurol ) The official journal of the World Federation of Neurology Research Group on Tropical Neurology, founded in 1991.
Journal of Neurosurgery
( J Neurosurg) A neurosurgical journal. Address: Waverly Press Inc., 428 East Preston St., Baltimore MD 21202. Web site: Journal Watch Neurology A site publishing reviews of papers relevant http://www.thejns.org/?cookieSet¼1. to neurology appearing in over 150 medical journals. Web site: http:// Journal of Neurotrauma neurology.jwatch.org/. ( J Neurotrauma) A neurological subspecialist journal. Web site: http:// J-shaped sella The appearance seen www.liebertpub.com/Products/ when the tuberculum sella and the anterior Product.aspx?pid¼39. clinoids are eroded. This is a typical feature
Journal of Sleep Research A
professional subspecialty journal. Web site: http://www.blacksci.co.uk/ Journal of Neurology ( J Neurol) The ~cgilib/jnlpage.asp?Journal¼JSR&File¼ official journal of the European Neurological JSR&Page¼aims. Society and organ of the Deutsche Gesellschaft fu¨r Neurologie. Address: Journal of Speech and Hearing Springer-Verlag GmbH & Co. KG, Disorders ( J Speech Hear Disord) A Heidelberger Platz 3, D-100 Berlin 33 neurological subspecialist journal. Address: Germany. Web site: http://link.springer.de/ American Speech Language and Hearing link/service/journals/00415/http:// Association, 10801 Rockville Pike, link.springer-ny.com/link/service/journals/ Rockville MD 20852. Web site: http:// 00415/index.htm. jshd.asha.org/.
Journal of Neurology, Neurosurgery, and Psychiatry
Journal of Stroke and Cerebrovascular Diseases ( J Stroke
( J Neurol Neurosurg Psychiatr) A British journal of the neurosciences, published monthly, which was founded in 1920 by Alexander Bruce as the Review of Neurology and Psychopathology (1903–1918), and which became the Journal of Neurology and Psychopathology (edited first by Ninian Bruce and then by Kinnier Wilson until his death). It has been published by the British Medical Journal group since 1926. A new series began in 1938, as the Journal of Neurology and Psychiatry with Dr. E.A. Carmichael as the editor until 1947. Dr. W Ritchie Russell, Prof. J. Simpson, Prof. David Marsden, Prof. R.A.C. Hughes, Prof. Charles Warlow and Prof. Martin Rossor have been editors subsequently. The present name was taken in 1944. Web site: http://jnnp. bmjjournals.com/.
Cerebrovasc Dis) A neurological subspecialist journal. Web site: http:// www.strokejournal.org/scripts/om.dll/ serve?action¼ searchDB&searchDBfor¼home&id¼jscd.
Journal of Neuropathology and Experimental Neurology A professional journal. Web site: http:// neur.allenpress.com/neuronline.
Journal of the History of the Neurosciences ( J Hist Neurosci) A quarterly publication sponsored by the World Federation of Neurology History of Neurosciences Research Group, containing contributions relating to the development of basic neuroscience and clinical neurology from the remote and more recent past. Web site: http://home.earthlink.net/~dgjoseph/ jhn/jhn.html.
Journal of the Neurological Sciences ( J Neurol Sci) A neurological journal. Editors: Drs. G.W. Bruyn and J.M.B.V. de Jong. Elsevier Science Publishers B V, P.O. Box 211, 1000 AE Amsterdam, The Netherlands. Web site: http://www.elsevier.nl/locate/jns.
in patients with gliomas of the optic nerve but is also found in subjects with Down syndrome and gangliosidoses, and occasionally in normal subjects.2955
Juberg–Hayward syndrome A recessively inherited congenital dysmorphic syndrome manifesting also short stature, hypoplastic or absent radii, clinodactyly, microcephaly, cleft palate, and mental and developmental delay.3254
Judgement of Line Orientation Test A test for perceptual disturbances involving the posterior part of the right hemisphere, wherein the subject is required to match the orientation of a line drawn on a paper with a standard set of other lines arranged like spokes on a protractor.533
jugular (from Lat, the throat) So translated by the Benedictine monk who made the first medieval translations of Galen’s works, Galen having called it the ‘‘sacrificial vein.’’ jugular foramen syndrome Involvement of various combinations of cranial nerves IX, X, and XI by a lesion at the jugular foramen. If the XII nerve is also involved, the condition is known as the Collet–Sicard or posterior lacerocondylar syndrome. See Vernet syndrome. Variant syndromes described and separately named (with the cranial nerves involved)6147 include the following: Avellis (X; some have contralateral spinothalamic loss) Collet–Sicard (IX, X, XI, XII) Jackson (Complete X, XI, XII; no comment on taste) Lannois-Jouty (IX, X, XI, XII) Mackenzie (IX, X, XI, XII) Schmidt (X, XI)
Julien-Marie–See syndrome Tapia (XI, XII) Vernet (VII, IX, X, XI, XII) Villaret (Collet–Sicard syndrome with cervical sympathetic palsy)
Cervical sympathetic palsy, hemiparesis, and other signs may, however, accompany any of these.
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defect in the other; the latter is due to compression of those optic nerve fibers from the contralateral inferior nasal retina looping forward in von Willebrand’s knee. See Traquair scotoma.
juvenile amaurotic familial idiocy See GM2 gangliosidoses. juvenile amyotrophic lateral sclerosis See amyotrophic lateral sclerosis.
junctional visual field loss See junctional scotoma.
juvenile amyotrophy of distal upper extremity See monomelic
idiopathic intracranial hypertension.
juster reflex Finger flexion with
amyotrophy.
jumpers See dancing mania.
stimulation or irritation of the palm. The normal response is extension.
jumping Frenchmen of Maine
juvenile absence epilepsy (OMIM
Julien-Marie–See syndrome See
(goosey) A familial syndrome seen mainly in males, characterized by brief involuntary movements occurring from infancy, precipitated by startle without alteration in consciousness, and sometimes accompanied by echolalia, echopraxia, and automatic obedience. It was described in 1878 by George Beard among French–Canadian workers in Maine and is still present in their descendants living in Quebec.460 Tourette translated the article and compared this condition to tics in 1881. Latah and myriachit are similar conditions to jumping and were described first in English by Hammond in 1884.6053
600131) An uncommon idiopathic epilepsy syndrome of childhood and youth in which myoclonic jerks and GTCS usually begin 1 to 10 years after the onset of absences. It is genetically determined but its mode of transmission and relation to other forms of IGE have not yet been established. The syndrome may be possibly mapped to chromosomes 8, 21, 18, and 5. Clinically, frequent, severe absence seizures lasting up to 30 s are accompanied in most cases by occasional GTCS and sometimes by sporadic myoclonic jerks as in childhood absence epilepsy. Hyperventilation and arousal are the main precipitants for the absences, while sleep jumpy stump Involuntary twitching of deprivation, fatigue, alcohol, excitement, and lights (alone or usually in combination) an amputation stump, usually associated precipitate the GTCS. Clinical with lancinating pain, often seen in the photosensitivity is exceptional. While the postoperative period but occasionally becoming chronic. Voluntary movement and absences are the same as occur in pyknolepsy, those accompanied by retropulsive local cutaneous stimuli may act as movements are less common. The ictal EEG precipitants.3754 shows generalized 3 Hz spike or polyspike slow-wave complexes.4882 The response to junctional infarct Infarction in the therapy is excellent. border zone between the territories of the A family history of epilepsy is not superficial (pial) perforating medullary unusual. Juvenile absence epilepsy, branches of the middle cerebral artery and childhood absence epilepsy, juvenile the deep perforators from the MCA trunk, myoclonic epilepsy, and epilepsy with grand carotid siphon, anterior choroidal artery, mal seizures on awakening seem to have a anterior cerebral artery trunk, Heubner’s artery, and posterior communicating artery. close relationship, since more than one of these often appear in a single family. Onset More plainly, they are for the most part in adult life is also described.1749 infarcts in between superficial and deep territories supplied by the middle cerebral juvenile acute nonherpetic artery. encephalitis A condition resembling junctional scotoma (junctional visual limbic encephalitis mediated by an antibody-associated immune response field loss) That visual field defect due to a against the NMDA receptor and associated lesion present at the point where the optic with ovarian teratoma.3073. nerve runs back into the chiasm, compressing both and leading to total visual loss or field constriction in the homolateral juvenile Alzheimer disease See eye and an upper quadrantic temporal field congophilic angiopathy.
juvenile bulbar palsy 1. See Fazio– Londe Syndrome. 2. See Vialetto-van Laere syndrome. 3. See amyotrophic lateral sclerosis. juvenile bulbar spinal muscular atrophy See Fazio–Londe syndrome. juvenile cerebromacular degeneration A clinical syndrome of dementia and visual loss, with diverse causes.
juvenile Creutzfeldt–Jakob disease See Creutzfeldt–Jakob disease. juvenile dermatomyositis See childhood dermatomyositis or polymyositis associated with vasculitis. juvenile distal and segmental atrophy of upper extremities See monomelic amyotrophy.
juvenile distal (nonprogressive) muscular atrophy A syndrome of insidiously progressive asymmetrical muscle atrophy in the hands and forearms with a self-limiting clinical course, usually reported in males from the Orient. A neurogenic etiology is probable.5867 Of clinical interest is the usual sparing of the brachioradialis muscle. Bladder, pyramidal, and sensory signs are absent, and the EMG shows evidence of both myopathic and neurogenic disease.
juvenile distal spinal muscular atrophy of upper extremities See monomelic amyotrophy.
juvenile dystonic lipidosis A juvenile variant of Niemann–Pick disease type C, itself a heterogeneous group of disorders generally manifesting dementia, epilepsy, and vertical gaze pareses in infancy or adult life, and in which sea-blue histiocytes and foam cells are found in the
545
juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies
bone marrow. The nature of the primary biochemical defect remains unknown. See sphingomyelin storage disorders.3314
spikes and the jerks. The response to juvenile muscular atrophy of unilateral upper extremity (distal appropriate drugs is good. (After Dreifuss
chronic spinal muscular atrophy affecting the hands) A benign syndrome of distal, segmental muscular atrophy of the upper juvenile epilepsy See juvenile limb with juvenile onset, affecting mainly myoclonic epilepsy of Janz. the intrinsic hand muscles and those of the forearms.2916 It usually occurs sporadically, juvenile galactosialidosis (type 2 but familial cases have also been recorded. juvenile sialidosis) A lysosomal storage See Hirayama syndrome, hereditary motor disease in which sialyloligosaccharides are stored. The onset is in youth or young adult neuropathy (variants), and monomelic amyotrophy. life and the condition is characterized by mental retardation, coarse facies, corneal juvenile muscular atrophy clouding, a macular cherry-red spot, deafness, seizures, and myoclonus. See simulating muscular dystrophy salidosis. Forms of hereditary motor neuropathy in which the neurogenic nature of the disorder is not initially apparent.869 juvenile global tremor A slow tremor at 1–1.5 Hz seen throughout the body, reportedly associated with bilateral juvenile myasthenia Clinically, olivary disease and with a likely metabolic electrophysiologically and basis. immunologically, typical myasthenia gravis occurring in childhood. It always has juvenile GM2 gangliosidosis with its onset after the age of 1 year and usually hexosaminidase A deficiency A after 10 years.. All degrees of severity including an acute recessively inherited syndrome characterized occur, as with adults, 2007 by ataxia, loss of speech, spasticity, athetosis, fulminating form. and minor motor seizures in early childhood with death by age l5. Late pigmentary juvenile myoclonic epilepsy of retinopathy is also described.4727 See GM2 Janz (impulsive petit mal, Janz syndrome, gangliosidosis. JME, myoclonic epilepsy of adolescents, benign myoclonic juvenile epilepsy; OMIM juvenile head trauma syndrome 254770) A distinct group of diseases in which there are generalized, idiopathic, and See traumatic spreading depression age-related seizures with onset around syndrome. puberty, characterized by clusters of seizures juvenile Leigh disease See infantile with bilateral single or repetitive, arrhythmic, irregular myoclonic jerks, bilateral striatal necrosis. predominantly affecting the arms and occurring characteristically within half an juvenile lipofuscinosis See neuronal hour of awakening. The jerks may cause ceroid lipofuscinosis. some patients to fall suddenly without noticeable disturbance of consciousness (but juvenile motor neuron disease their intensity is usually so mild that only (hereditary bulbar atrophy) A sporadic the patient can perceive them). Sleep variant of amyotrophic lateral sclerosis most deprivation, fatigue, and excessive alcohol commonly seen in the people of southern intake are major precipitants; India. It is characterized by slower progress photosensitivity and mental and than the classical form; the lower motor psychological arousal are less effective neuron lesions of the limbs and bulbar stimuli. muscles are accompanied by fasciculations Generalized seizures also occur often, and hearing loss; and the stretch reflexes are absences less frequently. These also usually increased asymmetrically. The highest occur shortly after awakening and are often cerebral functions are spared.6583 precipitated by sleep deprivation, fatigue, and photic stimulation. Interictal and ictal juvenile muscular atrophy of EEG have rapid, generalized, often irregular the upper extremity See monomelic spike waves and polyspike-waves; there is no close phase correlation between the EEG amyotrophy.
FE, et al. Commission for classification and terminology, ILAE. Proposal for Revised Classifications of Epilepsies and Epileptic syndromes. Epilepsia 1989;30:389–99. By kind permission of Wiley-Blackwell Publications.) Classic JME (as above) is by far the most common variety, but childhood absence epilepsy evolving to JME and JME with adolescent absence or with astatic seizures are other phenotypes described.4124 The disorder was first described as being recessively inherited through an abnormal gene at chromosome 6p.213167 and was initially mapped to 6p21.2–p11 and to 15q.14; both dominant and recessive transmission are described. Generalized tonic-clonic seizures, myoclonus, and absences may all occur.1749 but now seven chromosome loci, three epilepsy-causing mutations, and two genes with single nucleotide polymorphisms associating with JME have been identified. In summary, this is a rather benign form of seizure disorder, in which nocturnal or early morning tonic-clonic epileptic seizures and repetitive attacks of myoclonus on awakening begin in adolescence but remain as a life-long trait, and in which the neurological and mental state of those affected is normal.
juvenile neuroaxonal dystrophy A rare variant of neuroaxonal dystrophy, characterized by the onset in childhood or young adult life of progressive myoclonic epilepsy, cerebellar ataxia, and intellectual deterioration. Dysarthria, pyramidal and extrapyramidal signs, resting tremor, incontinence, and axonal neuropathy are other features.1695 See also infantile neuroaxonal dystrophy.
juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies A syndrome of childhood onset characterized by mental retardation, features of Marfan syndrome, neurogenic muscle atrophy and hyporeflexia, multiple epithelial dysplasia, increased urinary secretion of dermatan sulphate, and decreased lysosomal enzyme activities (-galactosidase, -glucuronidase and n-acetyl -D-glucose amylidase).2518
juvenile nonprogressive muscular atrophy localized in hand and forearm
juvenile nonprogressive muscular atrophy localized in hand and forearm See monomelic amyotrophy.
juvenile-onset Parkinsonism with dystonia See juvenile Parkinsonism syndromes and young-onset Parkinson disease.
juvenile Parkinsonism syndromes (corpus striatum syndrome, Hunt paralysis, pallidopyramidal disease) A pure system disease of unknown cause, causing Parkinsonian syndromes of bilateral rigidity and tremor with diurnal variation and paralysis of certain automatic and associated movements before the age of 21 years. The disease is associated with lesions of the efferent motor neurons of the globus pallidus. The response to levadopa is gratifying.6918 Missense mutations of ATP13A2 have been found in some cases. There tends to be a high familial incidence in these varieties and Lewy bodies are absent in patients examined before the age of
20 years. The condition was first noted by Ramsay Hunt in 1917. A variant is juvenile-onset Parkinsonism with dystonia, an uncommon dominantly inherited disease characterized by the onset in the first two decades of life of levadopa responsive Parkinsonism with prominent dyskinesias, such as equinovarus posturing of the feet, on-off oscillations, and slow progression of symptoms. The presence of motor fluctuations distinguishes this from Segawa dystonia, which it otherwise closely resembles.2355, 3049
juvenile progressive spinal muscular atrophy See hereditary
546
without dementia, associated with total deficiency of hexosaminidase B.3236
juvenile segmental muscular atrophy See monomelic amyotrophy. juvenile spinal muscular atrophy See hereditary motor
neuropathy, type 3.
juvenile spinal muscular atrophy with hexosaminidase A deficiency (GM2) See hereditary
motor neuropathy (variants).
motor neuropathy.
juvenile type of distal and segmental atrophy of upper extremities See monomelic
juvenile Sandhoff disease A
amyotrophy.
syndrome of progressive cerebellar disorder and mental and motor delay with onset in childhood, associated with total deficiency of hexosaminidase.4008 See GM2 gangliosidosis. Other variant forms include partial deficiency of the enzyme producing the same clinical picture, and a syndrome of tremor, cherry-red spots, and mild truncal ataxia
Juvenile Unknown Mitochondrial Problems (JUMP Foundation) A charitable organization. Address: 2232 South Main St., Suite 130, Ann Arbor, MI 48103. Tel: 313-327-5070. Web site: http://www.umdf.org/ (United Mitochondrial Disease Foundation).
k K complex A burst of waves on the EEG of variable appearance, consisting most commonly of a high-voltage diphasic slow wave frequently associated with a sleep spindle. Its amplitude is generally maximal in proximity of the vertex. K complexes occur during sleep, apparently spontaneously or in response to sudden sensory stimuli and are not specific for any individual sensory modality. See also vertex sharp transients. (Adapted from the 1974 report of the Committee on Terminology, IFCN. In: Chatrian GE, Bergamini L, Dondey M, et al. A glossary of terms most commonly used by clinical electroencephalographers. EEG Clin Neurophysiol 1974;37:538–48. Reproduced by kind permission of Elsevier Science and the IFCN.) Such EEG waveforms are recorded from all head regions during non–rapid eye movement sleep stages 2–4 at 2–3/min, and are characterized by an initial slow negative wave followed 700 ms later by a positive wave. They may represent nonspecific evoked potentials because they are sometimes induced by external stimuli.3228 Kabuki make-up syndrome A dominantly inherited congenital dysmorphic syndrome characterized by
depression of the tip of the nose, short stature, ectropion, congenital cardiac anomalies, brachydactyly, recurrent infections, and mental and developmental delay, seen mainly in Japan.4675 The name derives from the supposed resemblance of the affected subjects’ faces to those of a class of Japanese traditional actors.
Kaeser syndrome See scapuloperoneal syndrome (scapuloperoneal muscular atrophy without sensory disturbance). Although Kaeser’s name is given to this condition, his description came 25 years after that of Davidenkow.
kainic acid An excitotoxic amino acid. Kakke The Japanese name for beriberi. Kahlbaum, Karl Ludwig German psychiatrist who described catatonia in 1868.
negativism, impulsiveness, grimacing, stereotypies, mannerisms, command automatism, echopraxia or echolalia, verbigeration). The syndrome was first described by Kahlbaum in 1868, but catatonia itself is nonspecific with a range of psychiatric and organic neurological causes.411
Kahler disease A solitary plasmacytoma, rarely located in the cranial vault and usually observed in elderly patients. Progression to multiple myeloma is recorded. kainate receptors Glutamate receptors, modulators of GABAergic synaptic transmission in the hippocampus. Their activation reduces GABAergic synaptic transmission at principal interneuron cell synapses in the CA1 layer of the hippocampus. Kallmann syndrome (olfactogenital
Kahlbaum syndrome (catatonia) The association of at least one motor sign of catatonia (catalepsy, posturing, or waxy flexibility) and at least one sign of psychosocial withdrawal or excitement and/or bizarre repetitions (mutism,
dysplasia) A syndrome of (usually) X-linked dominant hypogonadotrophic hypogonadism with olfactory agenesis and consequent hyposmia, sometimes associated with color blindness.3278 The responsible gene maps to Xp22.3.
Kanzaki disease
548
Other features found have included mental retardation, hypotelorism, scoliosis, renal agenesis, pes cavus, spasticity, and sensory neuropathy. The disease has also been reported in females.
transferring, continence, and feeding) independently, requiring some assistance or requiring total assistance, and thus of value in the assessment and management of elderly demented people.3332–3334
Kanzaki disease A lysosomal storage disorder with angiokeratoma corporis diffusum due to deficiency of lysosomal -N-acetylgalactosaminidase activity. Clinical features include an axonal sensorimotor polyneuropathy and mild impairment of intellectual functions, attacks of vertigo, and sensorineural hearing impairment.6444
Kaufman Assessment battery for Children A diagnostic test for
kappa rhythm A rhythm consisting of bursts of alpha or theta frequency occurring over the temporal areas of the scalp of subjects engaged in mental activity. The cerebral origin of this rhythm is unproven. It is best recorded between electrodes located lateral to the outer canthus of each eye. (Adapted from the 1974 report of the Committee on Terminology, IFCN. In: Chatrian GE, Bergamini L, Dondey M, et al. A glossary of terms most commonly used by clinical electroencephalographers. EEG Clin Neurophysiol 1974;37:538–48. Reproduced by kind permission of Elsevier Science and the IFCN.) Karnofsky Scale See quality of life.
cognitive impairment in children.3
Kaufman syndrome (oculocerebrofacial syndrome) A congenital dysmorphic syndrome manifesting also fusion of vertebrae with scoliosis, myopia, pendular nystagmus, strabismus, ptosis, brachycephaly, microcephaly, intracranial calcifications, and mental and developmental delay.3340
Kawasaki disease (mucocutaneous lymph node syndrome) An acute febrile illness of unknown cause, usually affecting young children and manifest by cervical and hilar adenopathy, thrombocytosis, and coronary artery aneurysms. Encephalopathy and aseptic meningitis with increased intracranial pressure, muscle tenderness and weakness, and elevated CK levels3546 have also been described.
Kayser, Bernard (1869–1954) German ophthalmologist practicing in Stuttgart.
heart block, pigmentary retinal degeneration, cerebellar ataxia, pyramidal signs, mild facial and somatic muscle weakness, retarded somatic growth, and raised CSF protein levels. The syndrome as initially described has its onset in youth and is characterized by choroidal atrophy and retinal changes resembling retinitis pigmentosa, external ophthalmoplegia, small stature, deafness, an elevated CSF protein level, and cardiac conduction block,3364 with which proximal and distal lipid storage myopathy, cerebellar ataxia, deafness, dementia, hypoparathyroidism, and basal ganglion calcification may be associated. Familial factors play an undefined role in its genesis.3313 See also http://www.ninds.nih.gov/ disorders/kearns_sayre/kearns_sayre.htm, an informational site from the NIH.
Kearns–Sayre–Daroff syndrome See Kearns–Sayre syndrome. Kearns–Shy syndrome See Kearns–Sayre syndrome.
Keating syndrome See glycogen storage disease type 9, phosphoglycerate kinase deficiency. Kehrer, Ferdinand Adalbert
(1883–1966) German neurologist. He described the auriculopalpebral reflex Karsch syndrome A rare, recessively Kayser–Fleischer ring An orange, (closure of the eyes in response to various inherited congenital syndrome consisting of gold, or greenish deposit, about 2 mm wide, stimuli such as sudden noise, in the presence nystagmus, strabismus, pigmentary retinal around the limbus of the cornea and due to of increased intracranial pressure). degeneration, and splitting of the hands and/ copper deposition within the Descemet 3317 or feet. membrane. It is found in cases of Wilson Kehrer–Adie syndrome See Adie disease, for which it is pathognomonic, but pupil, Holmes–Adie syndrome. Kashida sign The appearance of muscle it may not be visible to the naked eye (it was spasms and tingling in response to warming not described by Wilson), requiring the use Keipert syndrome An X-linked or of cooling the skin, reported to occur in of a slit lamp to exclude its presence.3351 autosomal recessively inherited dysmorphic tetany.421 syndrome characterized also by digital Kearns–Sayre syndrome (Kearns– anomalies (broad terminal phalanges), Katsantoni syndrome Shy syndrome, Kearns–Sayre–Daroff hydrocephalus, mental retardation, and (Cote´–Katsantoni syndrome) A congenital syndrome, oculocraniosomatic deafness.3368 dysmorphic syndrome manifesting also neuromuscular disease with ragged red sparse, brittle hair and nails, ptosis, fibers) A laudable coalescence of two Keith–Wagener Scale A torticollis, nystagmus, osteosclerosis, atrial conditions (progressive external classification of hypertensive retinopathy septal defect, abnormal immunoglobulins, ophthalmoplegia and the Kearns–Sayre and mental and developmental delay.676 syndrome) through the demonstration that a developed by Keith, Wagener, and Barker. It combines the clinical findings of deficiency of cytochrome c oxidase and the Katz activities of daily living usual demonstration of deletions of mtDNA atherosclerosis and hypertension and is that most generally employed. The four levels scale A well-known and reliable in muscle and sweat glands are factors comprise: instrument for evaluating a patient’s ability common to patients with various to perform six activities in the realm of basic combinations of progressive 1. Mild-to-moderate narrowing or sclerosis ophthalmoplegia, pendular nystagmus, self-care (bathing, dressing, toileting, of the arterioles
Kernohan notch syndrome
549 2. Moderate-to-marked arteriolar narrowing, local and/or generalized, with exaggeration of the light reflex and compression of the venules at arteriovenous crossings 3. The same retinal arteriolar narrowing with focal constriction, retinal edema showing as ‘‘cotton-wool patches,’’ and/or hemorrhages into the retina 4. The changes listed in point 3 with added papilledema
keratic precipitates Deposits of
Kernig, Vladimir Mikhailovich
inflammatory and epithelioid cells on the posterior surface of the cornea.
(1840–1917) Russian neurologist, born in Latvia, who became director of the Obohovsk Hospital in St. Petersburg until his retirement in 1911.
keratoconjunctivitis sicca See Sjo¨gren syndrome.
Kernig sign The classic test for meningeal irritation, as in meningitis, keratoconus A conical forward described by Kernig in 1882, but a full projection of the cornea due to corneal description of it was only published 23 years dystrophy as occurs in Marfan syndrome, later.3391 To elicit the sign, the hip is flexed Other schemes for classification (Schie, trisomy 21 syndrome, Leber amaurosis, and on the pelvis and the knee flexed also; the Leishman) are also presented at the following other keratopathies. The condition may also knee is then gradually extended by the Web site: http://www.medal.org/ occur in isolation as a dominantly or examiner. Resistance due to involuntary ch19.html/. recessively inherited malformation. See also hamstring contraction suggests irritation of Munson sign. the L5 and S1, 2 roots. Kemp sign Reduction in back pain with The test is now almost invariably done flexion of the lumbar spine, seen in patients with the patient supine, but in his original keratosis follicularis A dominantly with prolapsed intervertebral disks. paper, Kernig described its elicitation in the inherited diffuse encephalopathy sitting position as well. characterized by dwarfism, alopecia, and Kennedy, Robert Foster See Foster hyperkeratosis.6750 Microcephaly, cerebral Kennedy, Robert. atrophy, seizures, and mental and developmental delay have also been Kernohan, J.W. (b. 1897) Irish Kennedy syndrome 1. (Foster described in association. neuropathologist who emigrated to America Kennedy sign) See Foster Kennedy and worked at the Mayo Clinic. He syndrome. 2. See bulbospinal muscular introduced a grading system for gliomas keraunoparalysis (from Gr, A neuronopathy. as well as describing the following syndrome. thunderbolt þ paralysis) A transient state of paralysis particularly affecting the legs that Kennedy’s Disease Association may occur after being struck by lightning. A nonprofit organization working to Cardiac arrest is probably a more common increase public awareness about this disease. result of this event, however. See lightning The multilingual Web site includes encephalopathy. discussion forums, support, research, and The phenomenon was described first by resources. http://www.kennedysdisease.org/. James Parkinson and later by J.-M. Charcot, but the name was applied by Macdonald Kenney–Alter–Sung syndrome Critchley. See progressive proximal spinal and bulbar muscular atrophy of late onset. kernicterus (bilirubin encephalopathy, nuclear jaundice) A syndrome of hypotonia, Kenny self-care scale An instrument lethargy, and poor sucking response, leading for the assessment of a patient’s abilities in on to spasticity, opisthotonos, seizures, and self-care and ambulation, of particular value eventually mental retardation, sensorineural in the elderly.808 deafness, choreoathetosis, dystonia, ataxia, and a pyramidal syndrome. Vertical gaze Kent Waldrep National palsy is also described. Brainstem auditory Paralysis Foundation A charitable evoked potentials are abnormal or absent organization in this field. Address: 16415 (auditory neuropathy) although inner ear Addison Rd., Suite 550, Addison, TX function is normal. 75001. Tel: 972-248-7100; 800-925-2873. The condition is a toxic effect of E-mail:
[email protected]. unconjugated bilirubin which crosses the Figure K–1 James Watson Kernohan. Web site: http://www.spinalvictory.org. immature blood–brain barrier unimpeded in children with hemolytic disease of the Kernohan notch syndrome (clivus newborn or other hyperbilirubinemic keratan sulfate One of the edge syndrome) Unilateral or bilateral syndromes, damaging the globus pallidus glycosaminoglycans, forming part of the pyramidal signs resulting from direct most severely.6505, 141 The condition was mucopolysaccharide which accumulates compression of a cerebral peduncle in the first described by Johannes Orth and is excreted in the (1847–1923), a German physician, in 1875. uncal syndrome, and further indirect mucopolysaccharidoses.
Kerr syndrome compression of the contralateral peduncle as a result of its displacement across the midline to abut the contralateral tentorial free edge, indenting (‘‘notching’’) the peduncle.3393 The name of H.W. Woltman, a colleague of Kernohan at the Mayo Clinic, has also been applied to this syndrome.
550
ketotifen A drug that blocks the
balance in favor of a myopathy (probably 3425 secretion of mast cells, which are thought to mitochondrial), as originally described. This condition and Kearns–Shy contribute to the origin and growth of syndrome are presumably the same. neurofibromas.
Keutel syndrome (humeroradial
synostosis plus) A recessively inherited congenital dysmorphic syndrome manifesting also skeletal and genital Kerr syndrome Stiffness and dryness abnormalities, microcephaly, meningocele, and mental and developmental of the skin for a few segments below a spinal deafness, delay.3410 cord lesion.
Kestenbaum number A rough
keyhole aqueduct syndrome
(pure syringobulbia) The occurrence of a syrinx in the midbrain and upper pons communicating with the aqueduct and fourth ventricle without associated syringomyelia. The condition is associated with gliosis of the cerebellum, and presents clinically with signs and symptoms of cerebellar and brainstem dysfunction with dysarthria, nystagmus, deafness, and internuclear ophthalmoplegia. The syrinx may be a centimeter or more in Kestenbaum syndrome See Sylvian its widest diameter, and is in the shape of an aqueduct syndrome. old-fashioned keyhole.1502
measure of the relative afferent pupillary defect, obtained by comparing the size of each pupil while the other one is in darkness. Kestenbaum also counted the vessels crossing the edge of the optic disk and believed that a substantial reduction was an indication of optic neuropathy, though this has not been confirmed as a valid marker for that condition.
ketoacidosis Accumulation of ketones in the blood, resulting from, for example, glucose dysmetabolism or mitochondriopathies, in which short stature, ataxia, deafness, and episodic coma are notable accompaniments.
ketogenic diet A high-fat, highprotein diet used in the management of intractable generalized or partial seizure disorders in children and adults. As over three-quarters of the calories are derived from fats, chronic ketoacidosis results and this appears to have anticonvulsant activity.
3-ketothiolase deficiency (-ketothiolase deficiency) A congenital metabolic aminoaciduric syndrome manifesting an abnormality in consciousness, neonatal respiratory distress, and mental and developmental delay.381
kindling The progressive and permanent reduction in seizure threshold that occurs when certain brain regions are stimulated repeatedly. Initially stimulus-bound, the seizures later occur spontaneously and eventually become intractable.4262 kinesia paradoxica The remarkable ability of some patients with akinetic Parkinsonism to regain normal motor freedom for a short time, usually when under acute emotional stress (as when their hospital ward catches fire, and they are capable of short-lived but useful movement, such as running out of the building).
kinesics 1. The complex of all of an individual’s gestural activity, conscious or unconscious, replacing or embellishing speech.1337 2. The study of limb, body, and facial movements associated with nonverbal communication.
Kienbock, Robert (1871–1953)
kinesigenic choreoathetosis An
Kiloh–Nevin syndromes
kinesiologic EMG (dynamic EMG)
uncommon paroxysmal movement disorder Austrian radiologist, professor at Vienna, characterized by the onset in childhood or who described both the following condition youth of dystonic spasms, chorea, and and that of osteochondritis of the semilunate athetosis precipitated by walking or other bone. muscle activity, and seizures but without succeeding dementia.3400 Whether this is a Kienbock disease Posttraumatic syringomyelia.3422 See also hematomyelia. form of reflex epilepsy or a movement disorder with basal ganglion origin is undetermined. See paroxysmal kinesigenic Killian–Pallister mosaic choreoathetosis, familial kinesigenic syndrome (chromosome 12p tetrasomy) choreoathetosis. A congenital dysmorphic syndrome characterized by facial dysmorphism and kinesin One of a family of proteins found skeletal abnormalities, brachycephaly, within axons, which are able to translocate strabismus, ptosis, hypotonia, cerebral axoplasmic vesicles along the microtubules, atrophy, seizures, and mental and and thus are responsible for axoplasmic developmental delay.4869 transport.
1. anterior interosseous syndrome.3426 2. ocular myopathy. A syndrome of dominantly inherited progressive weakness of the external ocular muscles with adult onset. The difficulty of distinguishing myopathic ketotic hyperglycinemia A from neuropathic changes in these muscles recessively inherited primary organic acidemia presenting in infancy with failure has led to uncertainty as to the actual pathology, but, in many cases, further spread to thrive, seizures, hypertonia, cerebellar ataxia, and mental and motor delay, induced of the weakness to the facial and bulbar and by the ingestion of milk protein (casein).1148 ultimately to the girdle muscles, coupled See proprionic acidemia, cerebellar ataxias with the frequent finding of ragged red fibers on muscle biopsy specimens, has swung the (variants).
The muscle electrical activity recorded during movement, giving information about the timing of muscle activity and its relative intensity. Either surface electrodes or Intramuscular fine wire electrodes are used. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.)
kinesiology The study of movement.
Kleine-Levin syndrome
551
kinesiometer An instrument for measuring the range of motion of a joint.
congenital skeletal abnormalities.3438 See malignant hyperthermia.
kinesthesis (Gr, to move þ perception) The sense of movement determined by conscious and unconscious awareness of the current state of extension (and thus the length) of the muscles, so in turn of the varying positions of a limb. The afferent impulses actually come from tendon organs and the older term muscular sense for the senses both of movement and of static position is not therefore appropriate. This, the sixth or ‘‘muscular’’ sense or sense of movement, was known to Aristotle but was described precisely by Sir Charles Bell in 1826 and assigned by him to the posterior columns. Bastian introduced the term in its current usage.
meningoencephalitis.
kinetics The internal and external forces affecting the moving body.
kippdeviationen/ kippnystagmus Horizontal conjugate
kinetic cerebellar tremor See cerebellar tremors.
kinking Acute-angle tortuosity of an artery, such as the carotid. The pathological significance of such a directional change is disputed, unless it is associated with stenosis.
kinky hair syndrome See Menkes disease.
kinky hair–photosensitivity– mental retardation See Calderon syndrome.
Kinsbourne–Warrington syndrome See opsoclonic
large-amplitude oscillations of the eyes which are suppressed by visual fixation at a rate of 2.5 Hz.1459 See also square-wave pulses.
leading to a trilobar skull with associated hydrocephalus. Retraction of the upper lids and proptosis lead on to the sunset sign, and both strabismus and visual failure due to optic nerve compression are common. Associated features include bony ankylosis of the limbs, hydrocephalus, EEG abnormalities, motor and mental retardation, cerebellar deformities, and polymicrogyria, while numerous other developmental defects have been reported less commonly.2970
Klein syndrome A dominantly inherited dysmorphic syndrome, characterized also by hypertelorism, blepharophimosis, partial albinism, deafness, syndactyly, and bone dysplasias.3474 See mandibulofacial dysostosis.
Klein–Lisak syndrome See Andersen syndrome.
Kleine, Willi German neuropsychiatrist
who published a series of five cases of periodic somnolence, two of which also Kisch, B. (b. 1890) German physiologist showed morbid hunger, in 1925. He kinetic nystagmus See optokinetic who, like Kehrer, described the considered hypothalamic pathology as a nystagmus. auriculopalpebral reflex. possible basis for it. Four years later, Max Levin, an American neurologist, reported a kinetic perimetry That Kit test Upward movement of the further case and in 1936 he summarized the (conventional) form of perimetry in which a umbilicus of the supine patient with a cord features of seven cases reported as a new test spot of given size and contrast is moved lesion at T 10, on saying the word ‘‘KIT’’ syndrome of periodic somnolence and from the periphery into the center of the loudly. This is due to the retained activity of morbid hunger. See Kleine-Levin syndrome. subject’s visual field.1840 the upper but not of the lower fibers of the rectus abdominis muscle which contract Kleine-Levin syndrome during the expiration required to say the word. (hypersomnia-bulimia) A syndrome kinetic tremor Tremor occurring See also Beevor sign, in which the same during a voluntary movement.1615 When characterized by recurrent periods of the amplitude of the tremulous movements movement is produced (rather more reliably) excessively prolonged sleep in adolescent is increased at the end of the movement of a by neck flexion. males, intermixed with periods of normal limb toward a target, the terms intention or sleep architecture lasting for a few days or terminal tremor may be used. When a kinetic Kitamura syndrome See thyrotoxic weeks, occurring every few months, and tremor occurs only during certain activities, periodic paralysis. eventually ending with recovery. During the such as writing, it is also known as taskabnormal sleep phases, apathy, irritability, specific kinetic tremor. See tremor. Kjellin syndrome A recessive form of confusion, hyperphagia (compulsive eating), hereditary spastic paraplegia complicated by and sexual disinhibition may occur (see also kinetopsia The illusion of movement all muscular atrophy, mental retardation, and Chart S–6). objects in the visual environment, likely due pigmentary retinal degeneration.3467 A confusional state, hallucinosis, to a lesion in the region of the temporoirritability, or a schizophreniform state may parieto-occipital junction.3640 klazomania Paroxysmal shouting. occur around the time of the attacks. Although described as a chronic vocal tic Thalamic rather than hypothalamic disease was detected in the only case so far to come to King–Denborough syndrome A disorder, it is also a distressing feature of severe dementia. postmortem examination. The syndrome congenital myopathy complicated by was reported by Antimoff in 1898, more malignant hyperthermia occurring in fully (in German) by Kleine in 1925,3478 and children with short stature, generalized kleeblattschadel anomaly muscle weakness, dysmorphism with anti(cloverleaf skull) A combination of anomalies in English by Levin 4 years later. The subject Mongolian slant to the eyes, and multiple was reviewed by Critchley in 1962.1332 based on the presence of craniosynostosis,
kinetic deviation See past pointing.
Klemm tetanus Variants of the syndrome include forms due to hypothalamic pathology, menstruation-related hypersomnia, and cyclical depression, and a form characterized by insomnia rather than by hypersomnia.4904 See also recurrent hypersomnia. http://med.stanford.edu/school/ Psychiatry/narcolepsy/KLS.html is a relevant university-based informational resource.
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other ocular abnormalities are other features described. Weber’s paper in 1907 referred to the account of the condition by Kallischer in 1899 but not to that of Klippel and Trenaunay, which had been published in 1900. Manifestations of other neurocutaneous disorders such as tuberous sclerosis and neurofibromatosis have been described in association.379
Klippel–Weil sign When the contracted fingers of the patient are quickly Klippel, Maurice (1858–1942) French extended by the examiner, flexion and adduction of the patient’s thumb indicate neurologist at the Salpeˆtrie`re. He described the presence of pyramidal disease.3484 the following two conditions as well as a familial form of frontal cranial hypertrophy Kloepfer syndrome A recessively resembling that seen in inherited syndrome with onset in infancy, 3486 craniocleidodysostosis. characterized by amentia, cortical blindness, deafness, infantilism, and a photosensitive Klippel–Feil anomaly (congenital erythematous skin rash. Pathologically, there cervical synostosis, congenital webbed neck, is subcortical demyelination and marked loss congenital brevicollis) Fusion of two or of cortical neurons. The biochemical basis for more cervical vertebrae, with or without the condition is not known.3489 occipitalization of the atlas, and basilar impression. Three types are described: Klumpke, Augusta De´je`rine 1. Complete fusion of the cervical vertebrae; (1859–1927) Parisian neurologist, the wife 2. A decreased number of cervical vertebrae; of Dr. Jules De´je`rine. She was born in San and 3. Subtotal fusion of some cervical Francisco and studied medicine in Paris, vertebrae. In all cases, the neck is short, the becoming the first woman Interne des hairline low, and neck movements limited. Hopitaux in Paris (in the face of substantial The major neurological complications are opposition on the grounds of her gender, as myelopathy and radiculopathy, resulting might then have been expected). from the bony or associated neural 5980 malformations but synkineses, Klumpke palsy (De´je`rine–Klumpke pyramidal signs, and a syringomyelic palsy) Lower brachial plexus injury, with syndrome have also been described.4507 consequent weakness and wasting of the Some patients have other skeletal C8–T1 musculature. When due to violent abnormalities, including dysraphism with physical abduction/stretch injury, the hydrocephalus, scapular winging, cleft sympathetic fibers may also be damaged palate, micrognathia, deafness, and spinal with consequent Horner syndrome. The tumors.2504, 3485 syndrome usually follows birth injury A variant is Wildervanck syndrome. (traction of the after-coming arm with Klemm tetanus See Rose disease.
Klippel–Trenaunay–Weber syndrome (Parkes–Weber syndrome, hemangiectatic hypertrophy) A congenital neurocutaneous syndrome, characterized by spinal vascular malformations with dermal hemangiomas of the trunk and limbs, telangiectasias, arteriovenous communications, varices and nevi at the same segmental levels, and asymmetrically hypertrophic limbs.3487, 3923 Irregular dominant inheritance is suggested. Macrocephaly, hypertrophy of other areas, subcutaneous calcification, syndactyly, malabsorption, seizures, glaucoma, and
breech delivery), arrest of a fall by grabbing on to a projection, or motor vehicle accidents.
Klu¨ver–Bucy syndrome A disconnection syndrome of the temporal lobes from midline structures. Clinically, this is characterized by hyperphagia, loss of the ability to make correct choices under visual control (visual agnosia, ‘‘psychic blindness’’), restlessness, excessive oral exploratory behavior and appetite, overattentiveness to visual stimuli (hypermetamorphosis), sexual libertarianism, and loss of the ability to learn
new skills. The syndrome was first described in monkeys following lesions of both hippocampi.3491 In humans, bilateral temporal lobe damage (usually in the context of head trauma, encephalitis, or dementia, or with dysfunction of one remaining temporal lobe) may lead to a blunted, affectless, apathetic state with inability to learn new data, occasional arousing to hypersexuality, bulimia, and a tendency to hypermetamorphosis.3846
Knapp streaks Angioid streaks on the retina, as seen in pseudoxanthoma elasticum. See angioid streaks, Grondblad–Strandberg syndrome. Dr. Herman Knapp (1832–1911) was an American ophthalmologist. knapsack palsy Brachial plexopathy as a result of compression by the straps of a knapsack or a hod.5295 See also Rieder paralysis, cadet palsy, upper brachial plexus palsy.
knee flexor reflex Contraction of the flexor muscles of the knee and of others in the leg in response to a tap behind the calcaneum, either as part of a generalized (increased) flexor response or as the result of vibrations set up by the tap. knee jerk (patellar reflex, quadriceps reflex) Contraction of the quadriceps muscle when its tendon is percussed; like other muscle stretch reflexes, it is augmented in pyramidal tract disease above that level and reduced with damage to the reflex arc, in this case at L3–4. The contralateral quadriceps reflex (tapping one patellar tendon leads to extension of the other knee as well) is part of a generalized mass movement (a crossed-extensor response) in patients with severe pyramidal disease.
knee-bending sign Slight flexion of one knee occurring while the subject is standing. The sign indicates root irritation at L5 or S1.1306 See Neri sign No. 1.
Knobloch-Layer syndrome A recessively inherited congenital syndrome consisting of cataract, macular degeneration, detached retina, myopia, cardiac situs inversus, lung hypoplasia, pendular nystagmus, and occipital encephalocele.1233 knock-knees See genu valgum.
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Kny disease See paramyoclonus multiplex.3504
Kocher, E.T. (1841–1917) Swiss
Koerber–Salus–Elschnig syndrome Retraction nystagmus and failure of up-gaze, described in patients with a pineal tumor or a cysticercus cyst in the region of the Sylvian aqueduct. The best of the original descriptions was that of Salus,5517 a pupil of Fleshnig. See dorsal midbrain syndrome.
surgeon who became professor of surgery at Berne and advanced the techniques of thyroidectomy (an operation commonly required in those days in the iodinedeficient, goitrous regions of Switzerland). He was awarded the Nobel Prize in 1909 for Kofferath syndrome A combination of Duchenne–Erb palsy (upper brachial his contributions to the understanding of plexus palsy) and phrenic nerve paresis thyroid disease.2066 following birth injury.6983 Kocher reflex Contraction of the abdominal wall when the patient’s testicles Koh blocks A set of cubes bearing are squeezed by the examiner. The utility of designs in four colors which the subject is asked to arrange to match a printed pattern. the reflex is hard to discern. The test was used to assess posterior right parietal function but because of its Kocher sign (globe lag) The delay in complexity has now been superseded by the ascent of the eyeball relative to the upper block design test on the Wechsler Adult eyelid on looking upwards in dysthyroid Intelligence Scale. ophthalmopathy.
Kocher–Debre´–Se´melaigne syndrome (muscular hypertrophy in cretins, infant Hercules syndrome, hypothyroid myopathy) The association of general enlargement of muscles with slow muscle contraction and relaxation and myoedema in patients with cretinism or adult hypothyroidism.1527 Painful muscle spasms are not a feature but aching pain, stiffness, and slow muscle contractions, with ‘‘hung-up’’ reflexes and a stiff gait, dysarthria, and paramyotonia are other features.3509 The only differences between this and hypothyroid myopathy (Hoffmann syndrome) appear to be the absence of pseudomyotonia and the amount of pain felt, as both states may occur in the same patient at different times. The condition was described first by Kocher in 1882.3509 The contribution of Debre´ and Se´melaigne was to demonstrate the response of the symptoms to treatment with thyroid extract, in 1935. The underlying mechanism is uncertain, but possibly an increased intracellular potassium concentration makes the end-plate less sensitive to acetylcholine and the cell less excitable; or it may reflect the failure of myosin heavy-chain switching from the neonatal to the adult IIb form of myosin as a result of the absence of thyroxine.
Koenen tumor Periungual or subungual fibromas occurring after puberty and diagnostic of tuberous sclerosis.2460
Kohler syndrome A congenital dysmorphic syndrome manifesting also cataract; congenital heart disease; pulmonary, renal, genital, and endocrine abnormalities; and cerebellar atrophy.381
Kohlmeier–Degos disease See malignant atrophic papulosis.
Kohlschutter syndrome A congenital X-linked or autosomal recessive inherited dysmorphic syndrome, manifesting also hypohidrosis, myopia, abnormality of the dental enamel, intractable seizures, pyramidal signs, and mental and developmental delay.3514
Kopf tetanus Cephalic tetanus, the wound often being cranial and the onset occurring with trismus.
Kornzweig, Abraham Leon (b. 1900) American ophthalmologist who practiced at the Mt. Sinai hospital in New York. See abetalipoproteinemia.
Koro (Indonesian; shrinking tortoise) An acute anxiety reaction occurring in oriental males who fear that their penis is receding into the abdomen and insist that it be grasped firmly, by themselves or others.2066 One cause of such a fear, in some cultures, is the belief that ghosts (who of course lack penises) disguise themselves in order to steal those of the living.
Korsakoff, Sergei Sergeyovich (1854–1900) Russian neuropsychiatrist who studied at the University of Moscow, receiving his MD degree with a thesis on alcoholic paralysis in 1887. He later took charge of the university psychiatric clinic. His contributions, apart from the syndrome of which he summarized the findings and which he described as an entity between 1887 and 1889, included a classification of mental diseases and works on paranoia and memory disturbances. He also wrote a major textbook of psychiatric disease. It is of interest that while Korsakoff noted that the syndrome often follows an episode of delirium tremens, he also reported 16 cases of nonalcoholic origin.
Kojewnikow, A. See Kozhevnikoff. koniocortex (Gr, dust þ Lat, bark) The primary receptive areas of the cortex; the granular primary sensory cortex. It includes the primary visual cortex, the primary auditory cortex on Heschl’s gyrus, the primary somatosensory cortex on the post central gyrus, and the primary motor cortex on the precentral gyrus. Konzo An abrupt-onset, nonprogressive, epidemic upper motor neuron disease (tropical myelopathy) presenting as spastic paraparesis. It occurs in children and young adults in central African countries such as Zaı¨re. The cause is considered to be cyanide intoxication due to excessive consumption of improperly processed cassava.3014
Figure K–2 Sergei Sergeyovich Korsakoff.
Korsakoff psychosis
Korsakoff psychosis See
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classifications of epilepsies and epileptic syndromes. Epilepsia 1989;30:389–99. The condition may also result from mitochondrial encephalopathy (MELAS). 2. Atrophy of the neck and shoulder muscles and later of the muscles of mastication, attributed by Osler to a lesion in the region of the mesencephalon (Osler, 1928 quoted by Durham1765).
age. The disease progresses to decerebration and death within 2 years. The late infantile type is characterized by optic atrophy, dysarthria, dementia, Korsakoff syndrome (Korsakoff hypotonia, cerebellar signs, spasticity, psychosis) See Wernicke–Korsakoff myoclonus, and motor neuropathy with encephalopathy. onset after 6 months of age.3550 Juvenile and adult forms are described with Kousseff syndrome A recessively dementia, cortical blindness, optic atrophy, inherited congenital dysmorphic syndrome and pyramidal signs that resemble hereditary characterized also by short stature, facial Kozlowski syndrome A recessively spastic paraplegia,342 and often peripheral hemangiomas, webbed neck, sacral inherited dysmorphic syndrome, neuropathy is also recognized .1348 meningomyelocele, arthropathy, congenital characterized by generalized skin atrophy The diagnosis is made by finding the cardiac disease, and distal weakness.3545 with excessive wrinkling, short stature, characteristic multi-nucleated globoid cells with severe astrocytic gliosis in an almost dislocation of the hips, microcephaly, Kozhevnikoff, Aleksei seizures, and mental and developmental totally demyelinated brain and in nerve Yakovlyevich (Kojewnikow, A.Y.) delay.3549 biopsy specimens.3550 (1836–1902) Russian neuropsychiatrist Other variants are Hagberg disease who graduated from Moscow and studied (prolonged floppy infant syndrome), which Krabbe, Knud Haraldsen further in Paris, London, and Germany is characterized by the late onset of the usual (1885–1961) Danish neurologist who before returning to Moscow. He was clinical features,379 and a form with added trained at Copenhagen and studied in eventually elected professor of nervous and London and with Marie in Paris, where he congenital fiber type disproportion.1535 mental disease there. He described the form developed an interest in the pineal gland. He See also National Tay–Sachs and Allied of epilepsy described in the next entry,3548 as became head of the neurology department in Diseases Association. well as lathyrism, the microanatomy of the Copenhagen. His full account of the cerebral and cerebellar cortices, the following condition was published in 1916; Krabbe syndrome See Sturge–Weber neuropathology of myasthenia and bulbar other major contributions were his complete syndrome. paralyses, amyotrophic lateral sclerosis, and description of Sturge–Weber syndrome in familial spastic diplegia (reported when 1934 and his description of congenital Krabbe universal muscular studying with Charcot in Paris). He was the universal muscular hypoplasia in 1947. The hypoplasia A wasting disease of infancy, author of a successful textbook of neurology. journal Acta Neurologica et Psychiatrica probably a form of hereditary motor In Moscow, Korsakoff was at one time his Scandinavica was founded in 1926, largely neuropathy. pupil and later his assistant. at his instigation. His colleague Viggo Christensen was Kraepelin dementia A dementing Kozhevnikoff syndrome 1. (partial professor of neurology at Copenhagen. syndrome with onset in early adult life, continuous epilepsy, Kozhevnikoff– manifesting behavioral disturbances, Rasmussen syndrome) A rare form of Krabbe leukodystrophy (globoid extrapyramidal rigidity, and Rolandic partial epilepsy of unknown cell leukodystrophy, Christensen–Krabbe cerebral atrophy with gliosis and spongy etiology occurring in both adults and syndrome, galactosylceramide lipidosis; changes. children but related to some lesion of the OMIM 245200) A recessively inherited motor cortex. Its principal features are the lysosomal degenerative disorder of myelin Kraepelin, Ernst (1856–1926) initial appearance of simple focal motor or (leukodystrophy) occurring in infancy or German psychiatrist, professor at Dorpat, somatosensory seizures or epilepsia partialis later childhood with a fatal course, Heidelberg, and later Munich. His major continua, complex focal seizures without characterized by a deficiency of contributions were in the classification of automatisms, or GTCS. Postictal and later galactosylceramide -galactosidase, the mental symptoms and diseases, the permanent hemiparesis is a residuum. As the deposition of galactocerebroside, and the descriptions of schizophrenia, and the condition progresses, the seizures become presence of globoid cells. The responsible provision of an academic milieu wherein longer, more frequent and more generalized, gene for galactosylceramidase maps to assistants such as Nissl, Jakob, Barany, and and hemihypesthesia, hemianopia, and chromosome 14q31. Spatz flourished. intellectual/language impairment develop Clinically, early and late infantile and over years until the process starts to burn juvenile forms are distinguished. The former Krane–Siroky classification A out. The MRI shows progressive accounts for 90% of cases and is system for classifying disorders of Hemiatrophy that usually starts in the characterized by fevers, psychomotor micturition based on urodynamic data.3556 temporoinsular region and focal or regression, irritability, optic atrophy, tonic Detrusor Hyperreflexia multifocal spikes and slow waves are seizures, opisthotonos, deafness, cortical recorded on the EEG. See also Rasmussen blindness, basal ganglion and pyramidal Coordinated sphincters encephalitis and Dreifuss FE, et al. signs, demyelinating sensorimotor Striated sphincter dyssynergia Commission for classification and peripheral neuropathy, and a raised CSF Smooth sphincter dyssynergia terminology, ILAE. Proposal for revised protein level with onset after 4 months of Nonrelaxing smooth sphincter Wernicke–Korsakoff encephalopathy.
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Detrusor Areflexia Coordinated sphincters Nonrelaxing striated sphincter Denervated striated sphincter Nonrelaxing smooth sphincter See also Bors–Komarr classification, International Continence Society classification.
Kratschmer reflex Inhibition of breathing when a baby encounters a bad smell. The reflex appears not to persist, however.
Krause, Wilhelm Johann Friedrich (1833–1910) German, professor of anatomy at Go¨ttingen and later at Berlin.
Krause corpuscles Rounded end-bulbs on sensory nerves in such sensitive areas as the lips and glans penis. Krause syndrome (retinal dysplasia, congenital encephalo-ophthalmic dysplasia, encephalo-ophthalmic syndrome) The combination of retinal and cerebral dysplasia with microphthalmos, malformations of the retina, choroid and optic nerve, persistent remains of the hyaloid artery, and microcephaly. Affected children, who are usually born prematurely, show failure of mental development and hydrocephalus and are blind. Oxycephaly and encephalocele may also be found.3560 The condition was described by Dr. A.C. Krause, an American ophthalmologist, in 1946. Trisomy 13–15 may be responsible for the syndrome. Kraus–Ruppert syndrome A congenital dysmorphic syndrome, characterized by hypogonadotrophic hypogonadism, small testes, microcephaly, syndactyly, and mental and developmental delay.381
Kretschmer, Ernst (1888–1964) German neuropsychiatrist.
Kretschmer syndrome See apallic syndrome.
publication on depersonalization recorded 38 cases, representing a huge range of mental and neurological symptoms, but linked by the common thread of, at some time, loss of the sense of personal identity. Krishaber considered this to be a neurological condition due to focal pathology, but this view is not now held.5810
Kulenkampff–Tarnow syndrome (cervicolinguomasticatory syndrome) A drug-induced dyskinetic syndrome. See tardive dyskinesia, cervicolinguomasticatory syndrome.3592
Kurtzke, John F. Contemporary American neurologist.
Krishaber disease See
Kurtzke scales (Expanded Disability Status Scale, EDSS; Disability Status Scale, incapacity status scale) Clinical rating scales Kristiansen syndrome Progressive for evaluating the disabilities of patients dissociated anesthesia, hyperpathia, with multiple sclerosis. The Expanded spontaneous pain, hemiballismus, diplopia, Disability Status Scale3612 extends the older seizures, and behavioral changes leading on (1955) scale, which had been widely adopted to bulbar palsies, as a result of an intrinsic in clinical and research settings. The EDSS is 5333 thalamic/brainstem lesion. now half of a bifid rating system, assessing overall disability, while the remainder (the Kubisagari See vertige paralysant, functional scale) represents ‘‘a series of grades Gerlier disease. in each of eight functional groupings . . . In each portion there is a numerical rating Kufor–Rakeb syndrome (autosomal which is mutually exclusive in its category, recessive, levodopa-responsive Parkinsonism and the higher the number, the greater is the with pyramidal degeneration, supranuclear dysfunction. Only objectively verifiable gaze palsy, and dementia) A pallidodefects due to multiple sclerosis as elicited pyramidal disorder first described in Brazil. upon neurological examination are included. It is characterized by subacute juvenileSymptoms are discarded.’’ The scale is given onset, partially levodopa-responsive in Chart K–1 and the EDSS in Chart K–2. Parkinsonism, pyramidal signs, dementia supranuclear palsy of vertical gaze, visual Kuru (laughing death syndrome) See hallucinations; levadopa-provoked motor Lytico–Bodig. The term is derived from the fluctuations, and widespread cerebral atrophy on neuroimaging. Late features are local word meaning ‘‘to shiver.’’ See also facial-faucial-finger mini-myoclonus, visual Creutzfeldt–Jakob Foundation Inc., a charitable organization in this field hallucinations, and oculogyric dystonic providing information and support. 6796 spasms. The condition is mapped to Address: P.O. Box 611625, Miami, FL 4579 1p36 (ATP13A2) but was formerly 33261-1625. Tel: 954-704-0519. E-mail: assigned the label PARK9.
[email protected]. Web site: http:// cjdfoundation.org/. Kufs, Hugo Frederich (1871–1955) depersonalization.
German neuropathologist, who practiced in Leipzig.
Kufs disease (late or adult amaurotic familial idiocy, adult ganglioside lipidosis) The dominantly inherited adult form of neuronal ceroid lipofuscinosis, in which there is deposition in neurons and other cells of an abnormal lipoprotein with characteristic ultrastructural patterns. Clinically, it presents with photosensitive progressive myoclonic epilepsy or with progressive mental deterioration, seizures, and facial dyskinesias, but without pigmentary retinal degeneration.567, 3586
Krishaber, Maurice (1836–1883) Hungarian-French physician who studied medicine at Vienna, Prague, and Paris, graduating from the last in 1864. He settled Kugelberg–Welander disease and practiced in Paris. His original See hereditary motor neuropathy type 3.
Kushtha See leprosy. Kuskokwim syndrome A recessively inherited congenital syndrome characterized by multiple joint contractures, mainly affecting the knees and ankles, hypoplasia of the lumbar vertebrae with spondylolisthesis, and atrophy (less often hypertrophy) of local muscles.4998
Kussmaul, Adolf (1822–1902) Peripatetic German physician, sometime professor or professor emeritus of medicine at Heidelberg. He made advances in a number of areas of medicine, including the invention of the stomach pump, and he was the first to describe the following; polyarteritis nodosa
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Chart K–1. The Kurtzke Scale A. Functional Systems Pyramidal functions 0. 1. 2. 3. 4. 5. 6. V.
Normal Abnormal signs without disability Minimal disability Mild or moderate paraparesis or hemiparesis; severe monoparesis Marked paraparesis or hemiparesis, moderate quadriparesis, or monoplegia Paraplegia, hemiplegia, or marked quadriparesis Quadriplegia Unknown
Cerebellar functions 0. 1. 2. 3. 4. 5. V. X.
Normal Abnormal signs without disability Mild ataxia Moderate truncal or limb ataxia Severe ataxia, all limbs Unable to perform coordinated movements due to ataxia Unknown Is used throughout after each number when weakness (grade 3 or more on pyramidal) interferes with testing
Brainstem functions 0. 1. 2. 3. 4. 5. 6.
Normal Signs only Moderate nystagmus or other mild disability Severe nystagmus, marked extraocular weakness, or moderate disability of other cranial nerves Marked dysarthria or other marked disability Inability to swallow or speak Unknown
Sensory functions (revised 1982) 0. Normal 1. Vibration or figure-writing decrease only, in one or two limbs 2. Mild decrease in touch or pain or position sense, and/or moderate decrease in vibration in one or two limbs; or vibratory (with or without figure writing) decrease alone in three or four limbs 3. Moderate decrease in touch or pain or position sense, and/or essentially lost vibration in one or two limbs; or mild decrease in touch or pain and/or moderate decrease in all proprioceptive tests in three or four limbs 4. Marked decrease in touch or pain or loss of proprioception, alone or combined, in one or two limbs; or moderate decrease in touch or pain and/ or severe proprioceptive decrease in more than two limbs 5. Loss (essentially) of sensation in one or two limbs; or moderate decrease in touch or pain and/or loss of proprioception for most of the body below the head 6. Sensation essentially lost below the head V. Unknown Bowel and bladder functions (revised 1982) 0. 1. 2. 3. 4. 5. 6. V.
Normal Mild urinary hesitancy, urgency, or retention Moderate hesitancy, urgency, retention of bowel or bladder, or rare urinary incontinence Frequent urinary incontinence In need of almost constant catheterization Loss of bladder function Loss of bowel and bladder function Unknown
Visual (or optic) functions 0. 1. 2. 3. 4.
Normal Scotoma with visual acuity (corrected) better than 20/30 Worse eye with scotoma with maximal visual acuity (corrected) of 20/30 to 20/59 Worse eye with large scotoma, or moderate decrease in fields, but with maximal visual acuity (corrected) of 20/60 to 20/99 Worse eye with marked decrease of fields and maximal visual acuity (corrected) of 20/100 to 20/200; grade 3 plus maximal acuity of better eye of 20/60 or less
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Worse eye with maximal visual acuity (corrected) less than 20/200; grade 4 plus maximal acuity of better eye of 20/60 or less Grade 5 plus maximal visual acuity of better eye of 20/60 or less Unknown Is added to grades 0 to 6 for presence of temporal pallor
Cerebral (or mental) functions 0. 1. 2. 3. 4. 5. V.
Normal Mood alteration only (does not affect disability status scale score) Mild decrease in mentation Moderate decrease in mentation Marked decrease in mentation (chronic brain syndrome—moderate) Dementia or chronic brain syndrome—severe or incompetent Unknown
Other functions 0. None 1. Any other neurological findings attributed to multiple sclerosis (specify) V. Unknown From Kurtzke JF. Rating neurological impairment in multiple sclerosis: an expanded disability scale (EDSS). Neurology 1983;33:1444–52. Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
Chart K–2. Expanded Disability Status Scale (EDSS) 0. Normal neurological examination (all grade 0 in FS; cerebral grade 1 acceptable) 1.0. No disability, minimal signs in one FS (i.e., grade 1 excluding cerebral grade 1) 1.5. No disability, minimal signs in more than one FS; disability, minimal signs in more than one FS (more than one grade 1 excluding cerebral grade 1) 2.0. Minimal disability in one FS (one FS grade 2, others 0 or 1) 2.5. Minimal disability in two FS (two FS grade 2, other 0 or 1) 3.0. Moderate disability in one FS (one FS grade 3, others 0 or 1), or mild disability in three or four FS (three/four FS grade 2, others 0 or 1), though fully ambulatory 3.5. Fully ambulatory but with moderate disability in one FS (one grade 3) and one or two FS grade 2; or two FS grade 3; or five FS grade 2 (others 0 or 1) 4.0. Fully ambulatory without aid, self-sufficient, up and about some 12 h a day despite relatively severe disability consisting of one FS grade 4 (others 0 or 1), or combinations of lesser grades exceeding limits of previous steps. Able to walk without aid or rest some 500 m. 4.5. Fully ambulatory without aid, up and about much of the day, able to work a full day, may otherwise have some limitation of full activity, or require minimal assistance; characterized by relatively severe disability, usually consisting of one FS grade 4 (others 0 or 1) or combinations of lesser grades exceeding limits of previous steps. Able to walk without aid or rest for some 300 m. 5.0. Ambulatory without aid or rest for about 200 m; disability severe enough to impair full daily activities (e.g., to work full day without special provisions). (Usual FS equivalents are one grade 5 alone, others 0 or 1; or combinations of lesser grades usually exceeding specifications for step 4.0.) 5.5. Ambulatory without aid or rest for about 100 m; disability severe enough to preclude full daily activities. (Usual FS equivalents are one grade 5 alone, others 0 or 1; or combinations of lesser grades usually exceeding those for step 4.0.) 6.0. Intermittent or unilateral constant assistance (cane, crutch, or brace required to walk about 100 m with or without resting.) (Usual FS equivalents are combinations with more than two FS grade 3þ.) 6.5. Constant bilateral assistance (canes, crutches, or braces) required to walk about 20 m without resting. (Usual FS equivalents are combinations with more than two FS grade 3þ.) 7.0. Unable to walk beyond about 5 m even with aid, essentially restricted to wheelchair; wheels self in standard wheelchair and transfers alone; up and about in wheelchair some 12 h a day. (Usual FS equivalents are combinations with more than one FS grade 4þ; very rarely, pyramidal grade 5 alone.) 7.5. Unable to take more than a few steps; restricted to wheelchair; may need aid in transfer; wheels self but cannot carry on in standard wheelchair a full day; may require motorized wheelchair. (Usual FS equivalents are combinations with more than one FS grade 4þ.) 8.0. Essentially restricted to bed or chair or perambulated in wheelchair, but may be out of bed itself much of the day; retains many self-care functions; generally has effective use of arms. (Usual FS equivalents are combinations, generally grade 4þ in several systems.) 8.5. Essentially restricted to bed much of the day; has some effective use of arm(s); retains some self-care functions. (Usual FS equivalents are combinations, generally 4þ in several systems.) 9.0. Helpless bed patient; can communicate and eat. (Usual FS equivalents are combinations, mostly grade 4þ.) 9.5. Totally helpless bed patient; unable to communicate effectively or eat/swallow. (Usual FS equivalents are combinations, almost all grade 4þ.) 10.0. Death due to MS. FS, functional systems.From Kurtzke JF. Rating neurological impairment in multiple sclerosis: An expanded disability scale (EDSS). Neurology 1983;33:1444–52. Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
Kussmaul aphasia (1866); progressive bulbar paralysis (1873); diabetic coma with the respiratory pattern now bearing his name (1874); and pulsus paradoxus, thoracentesis, gastroscopy, and mesenteric thrombosis. He was the first to use the term poliomyelitis and, for aphasia, ‘‘word-blindness.’’
Kussmaul aphasia (aphrasia paranoica) Voluntary mutism, simulating aphasia, in cases of paranoia; a clinical syndrome of stupor followed by overtalkativeness, described by Kussmaul in 1877. (‘‘The insane often remain for months
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and years in absolute silence; they would be taken for aphasics if they did not begin to speak unexpectedly at a given moment.’’)3616
Kussmaul respirations Deep and rapid breathing in acidotic states, such as diabetic ketosis or uremia.
liver with hypoalbuminuria as a result of starvation in children, who develop the signs after weaning in countries afflicted by family, regional, or national famine.6403
Kwok quease Poisoning by monosodium glutamate. See Chinese restaurant syndrome.
kwashiorkor (M’Bwaki, red boy, plurideficiency or malignant malnutrition syndrome) Depigmentation of hair and skin, edema, growth failure, lassitude, apathy, photophobia, and fatty infiltration of the
kyphosis (from Gr, bent) Flexion curvature of the spine, either regular over a large number of segments, or angular, affecting one or two levels only.
l L-nystagmus A form of nystagmus that with the hysterics until an experienced physician examines them. occurs during prolonged linear (or translational, not rotational) movements of ´ crivains See writer’s the head. The receptors for such movements la crampe des e cramp. are the otolithic organs.5887 See also vestibular nystagmus. la main e´trange`re See alien hand (limb) syndromes. L-2-hydroxyglutaric acidemia A rare recessively inherited chronic leukodystrophic syndrome characterized by microcephaly, mental retardation, pyramidal and extrapyramidal signs, ataxia, organic acidemia and hyperlysinemia, subcortical leukoencephalopathy, and cerebellar atrophy.428 Nerve biopsy shows a reduction in the size of myelinated axons.
la belle indiffe´rence The lack of emotional expression in the presence of an overt bodily disorder, shown by patients with hysterical conversion syndromes (when it is regarded as culpable) and by Stoics (when it is regarded as laudable). Physicians who can tell the difference are called psychiatrists; those who cannot, cynics. Brave, ignorant, agnosic, Parkinsonian, and depressed patients may also decline to wear their emotions on the sleeves of their hospital gowns, but the tempting phrase will nevertheless often lead to their inclusion
la rage See rabies. Labbe´, Charles (1852–1889) French
results of CSF oligoclonal banding are positive (laboratory-supported definite). Other categories are also defined. In the laboratory-supported probable category, there have been two prior attacks and the results of CSF oligoclonal banding are positive.5094 See also Poser criteria.
labyrinth (from Gr, a place with many turnings) The internal ear, composed of the cochlea, vestibule, and the semicircular canals, both osseous and membranous.
anatomist at the medical faculty in Paris.
labyrinthine apoplexy Acute vertigo Labbe´’s vein The posterior anastomotic and vomiting with succeeding permanent vein, crossing the temporal lobe about 5 cm behind its tip.
vestibuloparesis, probably resulting from occlusion of a branch of the artery of the internal auditory meatus.
labials (Lat, pertaining to the lips) Those consonants such as ‘‘B,’’ ‘‘M,’’ and ‘‘P’’ requiring use of the lips for articulation. See also articulated labials, modified labials, and dentolabials.
labyrinthine fistula Leakage of perilymph from the inner ear into the middle ear, disruption of the bone of the labyrinth caused by cholesteatoma or other manifestations of chronic otitis media, and laboratory-supported multiple superior semicircular canal dehiscence sclerosis Diagnostic categories of syndrome. It is caused by abnormal communications between the inner ear and multiple sclerosis in which two previous attacks occurred, separated both in time and its surrounding structures, sometimes as a in the location of the lesions; one clinical or result of barotraumas; and causes sudden sensorineural hearing loss. one paraclinical feature is present; and the
labyrinthine nystagmus
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labyrinthine nystagmus See
lactate stress testing Estimation of
vestibular nystagmus.
serum lactate levels following exercise rather than at rest, and used in the diagnosis of mitochondrial diseases. Abnormally increased levels reflect impairment of function of respiratory chain enzymes in muscle so that anaerobic replaces aerobic metabolism and shifts the pyruvate/lactate equation toward lactate. The addition of exercise enhances the diagnostic yield of the test.2056
labyrinthine reflex The sign is most easily elicited in infancy; the child is held up by, and facing, the examiner, who then rotates about his own axis several turns to the right and then to the left. The baby will look ahead in the direction of the rotation and, after stopping, will look back in the opposite direction.6898 See also vestibulo-oculogyric reflex.
lactic acidemia A metabolic acidosis
with increased intracranial pressure and it tends to go away within the first 6 months of life.
lacunar state The presence of multiple small cavitating infarcts in the white matter, due to multiple lacunes. The term was introduced by De´chambre in 1838 and amplified by Durand-Fardel 4 years later, but the clinical correlations were made with greatest effect by Pierre Marie in 1901 and by Dr. C. Miller Fisher between 1953 and 1982.
labyrinthine righting reflex See
due to a failure in pyruvate catabolism, in which lactate levels exceed 2.2 mmol/l. The causes include many inborn errors of labyrinthine Romberg sign When metabolism, mitochondrial disorders, systemic diseases, and intoxications. An the subject with unilateral labyrinthine 3106 disease stands with his feet together and eyes idiopathic congenital form also exists. See also pyruvate dehydrogenase deficiency, closed, he feels a sensation of being drawn to pyruvate carboxylase deficiency, Leigh one side and there is slow lateral flexion of disease, mitochondrial diseases, and his neck to that side. carnitine deficiency. labyrinthitis See acute peripheral vestibulopathy. lactosylceramidosis A rare neurovisceral glycolipid storage La Crosse encephalitis A mosquito- polioencephalopathy characterized by intracellular accumulation of borne arboviral cause of potentially severe lactosylceramide and clinically by the encephalitis or aseptic meningitis, characterized often by hyponatremia, seizures, appearance in infancy of cerebellar and pyramidal signs and optic atrophy with a focal neurological signs, and increased progressive course to death in the vegetative intracranial pressure.4235 See also the CDC Fact sheet on La Crosse encephalitis at http:// state.1488 www.cdc.gov/ncidod/dvbid/arbor/lacfact.htm lacunar dementia A form of dementia Fact Sheet: La Crosse associated with multiple small infarcts in the subcortical brain regions as a result of Encephalitis occlusive hyalinosis of the small penetrating vessels.90 See also Binswanger disease. Lacheretz–Allain syndrome A congenital dysmorphic syndrome characterized by female lacunar infarcts Infarcts in the deep pseudohermaphroditism, nephropathy, white matter of the brain, presumed to be multiple synostoses, acrocephaly, and due to occlusion of single perforating arteries craniosynostosis.3632 supplying the internal capsule, striatum, thalamus, pons, or cerebellum. The classic syndromes are pure motor hemiparesis, lacrimal (Lat, a tear) Pertaining to sensorimotor stroke, pure sensory stroke, lacrimation; weeping. dysarthria–clumsy hand syndrome, and ataxic hemiparesis. See also striatocapsular lactate dehydrogenase infarcts, thalamic infarcts, white matter deficiency A rare recessively inherited medullary infarcts, and extended large metabolic myopathy in which this muscle subcortical infarcts. isoenzyme is missing, thus causing incomplete block of glycolysis. The responsible gene maps to chromosome lacunar skull (lu¨kenscha¨del) The ‘‘soap11p15. Clinically, the condition is marked bubble’’ radiological appearance of the inner by fatigue, exercise intolerance, muscle table of the skull seen in some newborn cramps, and myoglobinuria following heavy infants with spina bifida and other exercise, without detrimental storage of developmental anomalies. Although this excess glycogen.1649, 3288 resembles copper-beating, it is not associated righting reflexes.
lacunar syndromes Constellations of more or less constant clinical signs considered to arise from the presence of lacunes in certain areas of the cerebral white matter.3892 The syndromes defined at present are listed in Chart L–1.2092 Hachinski2662 has suggested diagnostic criteria (see Chart L–2). Lacunar transient ischemic attacks are also described, in which isolated motor or sensory symptoms involve at least two of the three areas, namely, face, arm, and leg.3670 lacune (from Lat, a pond; or Fr, a small lake) The term used by Pierre Marie in 1901 and reintroduced by Miller Fisher in 1965 to describe small (less than 1 cm) deep cystic cavities in the white matter of the cerebrum, brain stem, and cerebellum, representing healed infarcts resulting from occlusion of deep penetrating cerebral arterioles.2076 For larger lesions he suggested the term giant lacune; others prefer lagoon. Three forms have been described: type 1—small areas of cerebral infarction; type 2—cystic scars, which are the residue of small hemorrhages; and type 3—areas of perivascular dilatation not associated with infarction.4174 Lacunes are associated with a prior history of hypertension, with atherosclerosis of the cerebral vessels, and with cerebral hemorrhages. When numerous, they produce the e´tat crible´ (from Lat, a sieve). Over 20 clinical syndromes have been identified as resulting from lacunes in various sites (see lacunar syndromes above), but most are probably asymptomatic.2092 In some cases, the clinical diagnosis is plain, but in most cases, the differentiation from other stroke pathologies is impossible. The underlying lesion is said to be ischemic infarction resulting from lipohyalinosis, or occlusion of the mouth of the branching vessel, but the sites of the
lacune
561
Chart L–1. Lacunar Syndromes Pure sensory stroke. Pure motor hemiparesis. Ataxic hemiparesis (homolateral ataxia and crural paresis, however, is an example of crossed cerebral–cerebellar diaschisis). Dysarthria–clumsy hand syndrome. Modified pure motor hemiparesis with aphasia, characterized by pyramidal signs mainly in the face and hand, with initial dysarthria and due to a lesion of the genu and anterior limb of the internal capsule. 6. Pure motor hemiparesis sparing the face, in which unilateral pyramidal signs in the limbs with initial nystagmus and vertigo are due to an infarct of the medullary pyramid. 7. Mesoencephalothalamic syndrome characterized by III cranial nerve palsy, impairment of upward gaze and abulia, and due to bilateral paramedian infarcts of the subthalamic and thalamic region or of the midbrain. See also top o’ the basilar syndrome. 8. Thalamic dementia. 9. Pure motor hemiparesis with horizontal gaze palsy in which a transient one-and-a-half syndrome is associated with hemiparesis; this is due to a paramedian pontine infarct.2092 10. Pure motor hemiparesis with crossed III nerve palsy (Weber syndrome). 11. Pure motor hemiparesis with crossed VI nerve palsy in which these findings are due to a low paramedian pontine infarct.2092 12. Pure motor hemiparesis with confusion, a rare syndrome due to a small deep infarct interrupting the thalamofrontal connections, in which the hemiparesis is associated with acute confusion and a memory deficit. 13. Cerebellar ataxia with crossed III nerve palsy (Claude syndrome). 14. Sensorimotor stroke (thalamocapsular). 15. Hemiballism or hemichorea. 16. Lower basilar branch syndrome. 17. Lateral medullary syndrome. 18. Lateral pontomedullary syndrome. 19. Acute loss of memory due to an infarct of the corpus callosum. 20. Locked-in syndrome. 21. Miscellaneous: 1. 2. 3. 4. 5.
Weakness of one leg with ease of falling. Pure dysarthria; a presumed lacunar syndrome characterized by the sudden onset of dysarthria without any angiographic or CT abnormality. Acute dystonia of thalamic origin, a presumed lacunar syndrome. Other lacunar syndromes identified4811 include III nerve palsy, nuclear and prenuclear syndromes of the III nerve, vertical gaze palsy, internuclear ophthalmoplegia, one-and-a-half syndrome, focal dystonia of the arm, and unilateral asterixis. Adapted from Fisher CM. Lacunar strokes and infarcts; a review. Neurology 1982;32:871–6.
Chart L–2. Diagnostic Criteria for Lacunar Syndromes Component
Diagnostic Criteria
Exclusions
Etiology
Hypertension (present on past history or prescribed for)
Deficit
Pure motor hemiplegia in face, arms, or leg
CT
Pure sensory stroke in face, arms, or leg Motor sensory stroke in face, arms, or leg Ataxic hemiparesis Dysarthria–clumsy hand syndrome Compatible with a small deep infarct or normal (or normal isotope brain scan)
Seizures, severe unusual headache, vomiting, loss of consciousness Abnormal higher functions (aphasia, neglect apraxia, agnosia) Hemianopia
EEG Angiography
Normal or symmetrically abnormal No tight stenosis of the internal carotid, middle, cerebral, vertebral, or basilar arteries
Superficial CT lesion Deep lesion greater than >1cm Focal abnormality
(Based upon Hachinski VC. Classification of stroke for clinical trials. Stroke 1990;21:Suppl II. 27–9.)
lacunes (exactly the same as the sites of primary intracerebral hemorrhage), the presence of hematin-laden macrophages around them, the absence of pathological reports of recent acute lacunes, and the occasional CT image of small deep
As criteria for possible lacunar stroke it has hemorrhages in the appropriate areas suggest been suggested4381 that all of the following that to incriminate ischemic infarction in every case is not warranted. must be met: The wholesale ascription of clinical 1. Clinical presentation of lacunar presentations to the collection of lacunar syndrome, which includes pure motor states has been criticized.3665 hemiparesis, pure sensory stroke, ataxic
Laehr reflex The EEG shows generalized and focal or multifocal posterior discharges, 2. photoconvulsive responses, and slowing of the background rhythms. The diagnostic 3. pathological finding of basophilic intracytoplasmic PAS-positive inclusions in cells of the dentate nucleus, thalamus, and brain stem was described by Lafora in 4. 1911,3641 20 years after Unverricht’s original identification of progressive 5. myoclonic epilepsy.6449 The diagnosis is made by detecting Lafora bodies within Laehr reflex (Laehr–Henneberg reflex, neuronal processes in the central nervous system. Similar accumulations occur in the hard palate reflex) Contraction of the orbicularis oculi and lowering of the upper liver, heart, skin, and skeletal muscles. In lip when the hard palate is tickled. This sign practice, the method of choice for confirming 1246 may be found in cases of pseudobulbar palsy. the diagnosis is axillary skin biopsy. Lafora body disease differs from Laehr–Henneberg reflex See Laehr Unverricht–Lundborg–Lafora syndrome in reflex. its slightly later mean age of onset, less severe myoclonus, and earlier and relentless Lafora, Gonzalo Rodriguez cognitive decline, but this does not mean (1886–1971) Spanish neurologist, that the underlying abnormality is not the neuropathologist, and psychiatrist who same. See also adult polysaccharidosis. The graduated from Madrid, taking further following variants are described training there with Cajal and then in a number Progressive myoclonic epilepsy without Lafora of German centers. While working in bodies—a precisely similar clinical Washington DC, he described the amyloid condition in which the Lafora bodies bodies known by his name. After a further are not detected.4181 period as an exile in Mexico during the Spanish Juvenile neuronopathic Gaucher disease, type Civil War, he returned to Cajal’s laboratory in III—a cause of progressive myoclonus Madrid for the remainder of his career. epilepsy, with the added clinical features of horizontal and vertical supranuclear Lafora bodies (amyloid bodies, gaze palsies, hepatosplenomegaly, and myoclonus bodies, polyglucosan bodies) cerebellar signs.4679 Rounded periodic-acid-Schiff-positive, argyophilic intracytoplasmic inclusion laforin A protein with unknown function, bodies with a dense central basophilic core seemingly relevant in the pathogenesis of and a rim that takes up less stain, found in Lafora body disease. the larger neurons of the thalamus, dentate nuclei, and substantia nigra, in progressive myoclonic epilepsy (Lafora body disease) lag-in-pulse sign Delay in the and less abundantly in normal aged brains. re-establishment of the radial pulse after manual compression of the radial artery Lafora body disease (progressive proximally—seen in the vasogenic form of myoclonic epilepsy with Lafora bodies; the thoracic outlet syndrome. OMIM 254780) A recessively inherited polioencephalomyelopathy of late childhood lagophthalmos (from Gr, a hare þ the or early adult life, characterized clinically by eye) Inability to close one or both eyes fully progressive dementia, dysarthria, visual loss, while at rest, as may occur with bilateral VII pyramidal and cerebellar signs, and cranial nerve palsies or myopathy affecting photoconvulsive progressive myoclonic and the facial muscles. The name derives from other seizure types, leading to death in 2–10 the ancient belief that hares sleep with their years from the onset of symptoms. Many eyes open. Iritis and corneal nodules are patients present with an apparently benign predictable complications. seizure disorder but the emergence of myoclonus and rapidly progressive dementia identify it as one of the PMEs. It is mapped Laing distal myopathy See limbto 6q24 but there is more than one locus. girdle muscular dystrophy. hemiparesis, or the dysarthria–clumsy hand syndrome. Age 60 years or a history of hypertension or diabetes. CT or MRI performed 72 h after stroke shows appropriate subcortical lesion 80%) over the age of 10; women are dyspnea in himself, differentiating the affected much less frequently. The condition problem from one of cardiac origin, as his diaphragmatic contractions were not in time affects the second eye within 3 months. Pseudoedema of the retinal nerve fiber layer, with his pulse. peripapillary microangiopathy, and left-handedness (sinistrality) tortuosity of the retinal vessels are A preference for using the left side of the characteristic signs. There is an absence of peripapillary staining on fluorescein retinal body for performing fine motor tasks such as writing, using scissors, a knife, or a sporting angiography. Clinically, loss of acuity, contrast sensitivity, and of color vision and implement. It occurs in some 10% of the population, and more often in males. Leftcentrocecal visual field defects are accompanied by temporal pallor of the disk eyedness also occurs. Except for the nuisance value of being leftand loss of the papillomacular bundle in the handed in a world run mainly by and for the retinal nerve fiber layer. right-handed majority, there is little that is Though familial and following a negative about the preference, although transmission pattern resembling that of there is a statistical excess of subjects with X-linked recessive disorders, being autism, stuttering, dyslexia, migraine, maternally transmitted, this transmission allergies, and immune diseases in a does not follow the usual Mendelian population of strong sinistrals. principles3738, 3739 and is a mitochondrial A major review of cerebral lateralization encephalopathy, usually resulting from point and hypotheses as to its nature was presented mutations at 11778, 3460, or 14484 in the 2341 mitochondrial genome,5317 all of which affect in the last paper of Norman Geschwind. genes that encode subunits of the respiratory chain in Complex I. It is considered to reflect left–right confusion Impairment of the ability to differentiate the two sides, both this abnormality of respiratory chain usually as a result of right parietal lobe enzymes and also the operation of an disease. See also Gerstmann syndrome. exogenous factor such as cyanide or folate deficiency. The diagnosis is proven by mtDNA analysis. In the typical form, the left-sided syndromes 1. Weakness of triad listed above is present. Similar but the left arm and leg (but of the right side of
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the face), left optic atrophy, loss of auscultatory blood pressure in the left arm, and staggering gait with a tendency to fall to the left, all occurring in the presence of renal failure and generalized atherosclerosis.6679 2. The complaint of both positive and negative painless sensory symptoms, felt on the left side of the body (face, neck, and arm >leg) mainly by females, in whom no objective physical signs can be found and no underlying structural pathology demonstrated.6025 In some cases, anxiety with hyperventilation appears relevant in causation, but why unilateral right-sided symptoms are only a tenth as likely to be evidenced than those on the left is unexplained.5435
leg jerks See periodic limb movement disorder.
leg phenomenon See Pool–Schlesinger sign.
leg sign (Barre´ sign) With the patient prone, the knees are flexed so that the lower leg is vertical. Return of a leg to the extended position (on the bed) suggests the presence of a pyramidal lesion (but also argues in favor of gravity). Legallois, Julien-Jean-Ce´sar (1770–1814) French physiologist, notable for his isolation of the medullary respiratory center and for demonstrating neurogenic influences on the heart.
Legionnaire disease A widespread infection by organisms of the class Legionnairaceae, most commonly occurring in epidemics and producing mainly respiratory tract disease. The latter is associated with weakness, headache and myalgia, cough, and high fever. Gastrointestinal symptoms are also common. Neurological signs, including emotional lability, confusion, delirium, or CNS depression, occur in about one-third of the cases. leg-straightening reflex The legs and body normally straighten when the sole of an infant’s foot is pressed onto the surface of the examining table. See also developmental reflexes. Leichtenstern, Otto Michael Ludwig (1845–1900) German physician in Cologne. He had a particular interest in
lengthening reaction
571
infectious diseases, but also gave a good account of subacute combined degeneration of the cord in 1884.
Leichtenstern phenomenon Hyperalgesia when any bone is pressed; found in patients with meningitis.3757
Leigh disease (subacute necrotizing encephalomyelopathy) A fatal, recessively inherited mitochondrial disease of infancy or childhood (rarely occurring in adults, in whom the disease may be relatively mild), of unknown cause but with a major biochemical defect in the deficiency of cytochrome c oxidase and thus in the oxidation of pyruvate.3758 Serum lactate and pyruvate levels may be raised. Abnormalities of the pyruvate dehydrogenase complex and (rarely) of the NADH–CoQ reductase system have also been described.1152 Clinically, it is characterized by psychomotor retardation, weakness, hypotonia, feeding difficulties with failure to thrive, and dystonias, seizures, myoclonus, visual deterioration due to optic atrophy, metabolic acidosis with vomiting, tachypnea, apneic spells, reduced consciousness, nystagmus and other ocular signs, pyramidal and cerebellar signs, and hepatomegaly. The eye signs and the histological appearances are similar but not identical to those of Wernicke disease and, as in that condition, abnormalities of liver function and of cardiac and skeletal muscle may also be found.2425, 6493 However, the response to vitamin B therapy is usually disappointing. Dr. A. Denis Leigh (1915–1998) was a consultant psychiatrist at the BethlemMaudsley Hospital in London, UK. The following variants have been identified: See Alpers disease. The differentiation of this condition from Leigh disease is uncertain. Acute neonatal Leigh disease—A fatal recessively inherited syndrome with rapid progression, characterized by hypotonia, 0acidosis, and cardiomyopathy with sudanophilic leukoencephalopathy.5714 Juvenile Leigh disease—A sporadic syndrome of adolescence characterized by weakness, exercise intolerance with dyspnea, Parkinsonism, pyramidal and cerebellar signs, and dementia.6493 Adult Leigh disease—A sporadic pleomorphic condition, usually diagnosed initially as multiple sclerosis but with no MRI abnormalities in the initial stages, despite
clinical evidence of brain stem involvement (respiratory failure, nystagmus, oculomotor palsies, palatal myoclonus, reticular myoclonus, etc.), visual failure, ataxia, and spasticity. Coma and paroxysmal brain stem failure with apnea may occur.2556
Lemierre, Andre´-Alfred (1875–1956) French physician in Paris who specialized in infectious diseases.
Lemierre syndrome (postanginal septicemia) Septic thrombophlebitis of the internal jugular vein and metastatic See also Association for Neuro-Metabolic infections involving especially the lungs, Disorders, a charitable organization in this following an acute oropharyngeal infection. field providing information and support. The syndrome was described by Lemierre in Web site: http://www.kumc.edu/gec/ 1936. support/neuro-me.html. Leigh Disease is an information sheet compiled by the NINDS. Lemierre–Boltanski–Justin– Web site: http://www.ninds.nih.gov/ Besanc¸on syndrome (tuberculous disorders/leighsdisease/leighsdisease.htm. alcoholic polyneuritis) Regarded by the original authors as a specific variety of leiodystonia A chronic but intermittent polyneuropathy with twin etiologies, it disturbance of regulation of the autonomic seems likely that this condition represents nervous system manifesting as hypotension, the occurrence of both polyneuropathy and pallor, dilated pupils, perspiration, and tuberculosis as complications of alcoholic impotence, described in the 1930s in malnutrition, although it is singular that the Europeans living in the tropics and probably cases reported initially were all in relatively representing a combination of dehydration young women with marked cachexia, and depression.4876, 6884 cirrhosis, and miliary tuberculosis. The condition has not hitherto been reported from the Western world.3771 leiomyoma (Gr, smooth þ muscle þ tumor) A benign tumor of unstriated muscle, as in the uterus or prostate gland.
Lemieux–Neemeh syndrome A
congenital syndrome, perhaps recessively transmitted, manifesting sensorineural Leishmaniasis (kala-azar) Infection deafness, nephropathy, and sensorimotor with Leishmania donovani, resulting from the neuropathy, resembling hereditary motor bite of a sandfly and causing a parasitic and sensory neuropathy.3772 reticuloendotheliosis. Peripheral neuropathy is a complication, perhaps reflecting the lemniscal system (from Gr, bandage nutritional deficiency that results from or woolen strand) One of two somatosensory 5724 anorexia in this condition. systems (the other is the spinothalamic) comprising the ascending fiber pathway, Leiter International Scale (Arthur which transmits tactile and kinesthetic adaptation) A nonverbal test of cognitive impulses from the large myelinated fibers in ability, used in children and young people. the peripheral nerves and posterior columns See http://portal.wpspublish.com/ portal/ to the medullary gracile and cuneate nuclei, page?_pageid¼53,114601&_dad¼ from which arise second-order afferents, portal&_schema¼PORTAL. which decussate and pass to the ventrobasal thalamic nuclei. Nerve cells from here project to the primary somatosensory area of leitungaphasie See conduction the postcentral cortex. aphasia. The system is highly adaptive, rapidly conducting, and mode- and place-specific, Lejeune disease See cri-du-chat and appears to provide the anatomical base syndrome. for the discriminative and localizing functions of the nervous system.
Lejonne–Lhermitte disease (olivorubrocerebellar atrophy) A syndrome of adult onset, characterized by atrophy and gliosis of the olives, cerebellar cortex, dentate nucleus, and both superior and inferior cerebellar peduncles.3768
LEMS See Lambert–Eaton myasthenic syndrome.
lengthening reaction 1. When a tonic muscle is stretched, it assumes, by
Lennox, William Gordon absence, atonic, myoclonic and generalized tonic-clonic seizures, head drops, and falls) in children aged 1–8 years. The seizure frequency is high, and status epilepticus is frequent (stuporous states with myoclonic, tonic, and atonic seizures).3777, 6833 The EEG usually shows abnormally slow background activity, slow spike-waves (1– 2.5 Hz), and often multifocal abnormalities. During sleep, bursts of fast rhythms appear. Seizures are difficult to control, and their development is mostly unfavorable. In 60% of the cases, the syndrome occurs in children suffering from a previous encephalopathy, but is primary in other cases. Known causes are metabolic and dysgenetic and many periLennox, William Gordon (1884– or postnatal acquired disorders can also precipitate the syndrome.1398 The prognosis 1960) American humanitarian, clinical neurophysiologist, and epileptologist who is poor, severe neurological and mental trained at Harvard and, after a period spent deficits persisting for the remainder of the in China at the Rockefeller Medical School, patient’s life. satisfying in part his missionary zeal, The term has been used to refer to a returned to Harvard and began his lifelong number of conditions, indicating that the studies of the cerebral circulation and later precise delineation of the syndrome has not the nature and treatment of epilepsies. yet been achieved. He collaborated with Stanley Cobb, H.G. 1. A syndrome of epilepsy in childhood Wolff, F.A. Gibbs, E.L. Gibbs, and others accompanied by diffuse slow spike-wave patterns on the EEG (see above). In this during the long period of his research output. Prominent among the studies childhood epileptic encephalopathy, there are completed and published as a large series of diffuse interictal slow spike-wave complexes papers was his investigation of the electrical and multiple seizures including tonic seizures activity of the brain, using the newly as well as atonic and myoclonic attacks, introduced EEG. His major book Epilepsy atypical absences, and even absence, tonic, or and Related Disorders (written in association myoclonic status. The classic EEG feature is a with his daughter, Dr. Margaret Lennoxdiffuse slow spike-wave pattern originally Buchthal) was immediately hailed as a described as a ‘‘petit mal variant.’’ Secondary classic. or symptomatic forms of the syndrome are common. Aicardi defines the syndrome as one In addition to his important laboratory studies, he built up a major epilepsy service limited to those cases characterized clinically and taught widely on all aspects of epilepsy, by brief tonic and atonic seizures and atypical absences as the predominant types of attacks not the least being the importance of the education of the patient, the family, and the and from the EEG viewpoint by at least some community. 2-Hz (slow) diffuse spike-wave activity. Myoclonic seizures may also occur, as may 3Lennox disease See Lennox–Gastaut Hz (fast) spike-wave activity.72 2. Myoclonic syndrome. epilepsies. In such variants, the frequency and intensity of the myoclonic jerks are both unusually high. The EEG is typical except Lennox–Gastaut syndrome that it is activated by overbreathing.72 3. An (severe myokinetic epilepsy of childhood with slow spike and wave, childhood epileptic syndrome secondary to diffuse or mild focal brain damage and characterized by encephalopathy with diffuse slow spikewaves, Lennox syndrome, minor motor astatic and myoclonic seizures, mental seizures, myoclonic–astatic seizures)1 An retardation, the presence of neurological signs, and in most cases neuroradiological epileptic encephalopathy of infancy and abnormalities. childhood—a polioencephalopathy, See also Epilepsy Foundation, a charitable characterized by the association of slow organization in this field providing spike-wave activity in the EEG, mental retardation, and various types of intractable information and support. Web site: seizure (including tonic-axial, atypical http://www.epilepsyfoundation.org/ and virtue of its proprioceptive arc, a new tonic length that is approximately the length to which it has been stretched.5788 2. Sherrington later wrote that in trying to bend the knee of a decerebrate animal, ‘‘the attempt causes further accentuation of the stretch reflex in muscles which are already highly responsive to stretching. If the attempt to flex the joint is maintained, there comes a point and time at which the muscle suddenly gives way and allows any degree of flexion to be imposed on it (the clasp-knife reaction). This is the lengthening reaction and it marks the partial or total abolition of the stretch reflex.’’5164
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Dreifuss FE, et al. Commission for classification and terminology, ILAE. Proposal for Revised Classifications of Epilepsies and Epileptic syndromes. Epilepsia 1989;30:389–99.
Lenoble–Aubineau syndrome (nystagmus–myoclonus syndrome) An X-linked congenital nonprogressive syndrome of nystagmus with myoclonic contractions of the extraocular and limb muscles occurring in response to cold and muscle percussion. Pigmentary retinopathy, tremor of the head and arms, muscle fasciculations, hyperactive reflexes, and vasomotor disturbances made worse by cold are also described. The syndrome was described first in 1898 in the residents of Brittany3778 and appears to be confined to Breton and British Celts.
lenticular, lenticulate (from Lat, a lens or a lentil)
lentiginosis–deafness– cardiopathy syndrome See LEOPARD syndrome.
Lenz micropthalmia syndrome An X-linked recessive or autosomal dominant syndrome characterized by micropthalmia; skeletal abnormalities of the hands; renal, genital, and dental abnormalities; and mental retardation with microcephaly.3779
Lenz–Majewski syndrome (hyperostotic dwarfism) A congenital dysmorphic syndrome manifesting also short stature, polysyndactyly, dental and dermal abnormalities, delayed closure of the fontanelles, a thick calvarium, sclerosis of the skull, osteoporosis, and spasticity.4034
Leonardo da Vinci (1452–1519) Italian artist, anatomist, and scientist. A brilliant contributor in many areas of science, art, and medicine, he himself dissected corpses and was probably the illustrator for Vesalius. He published in these pictures many structures that others proclaimed in prose only centuries later. There exists dispute as to his handedness, some suggesting that he was left-handed, others that he used the left hand only after he suffered a right hemiparesis.
Leonhard syndrome An acquired syndrome characterized by a disturbance in
leptomeningitis
573
mononeuropathies, the nerve territories involved being those in the distal, cooler parts of the body, where also the skin nodules leontiasis ossea Bilateral hypertrophy and macules are most abundant. The clinical features include those of a of the bones of the cranial vault, leading to a predominantly thin-fiber hypertrophic lion-like appearance; first described by Marcello Malpighi (1628–1694), an Italian neuropathy with patchy sensory loss that eventually becomes confluent; mutilating anatomist. acropathy; Charcot joints and autonomic involvement.5485 LEOPARD syndrome (dominant lentigines and congenital deafness, lentiginosis–deafness–cardiomyopathy leprosy (from Gr, scaly) (Hansen disease, syndrome) A dominantly inherited elephantiasis anesthetica, Kushtha) A mildly neurocutaneous syndrome consisting of contagious disease with a long incubation multiple lentigines over the entire body, period, caused by infection with the electrocardiographic conduction defects (due Mycobacterium leprae (Hansen bacillus), which to hypertrophic cardiomyopathy), ocular has an affinity for cells originating from the hypertelorism giving a triangular shape to neural crest. Tuberculoid, lepromatous, the face, pulmonary stenosis, abnormal dimorphous, and indeterminate forms are genitalia, growth retardation, and congenital described. severe neural deafness with normal Leprosy was Hippocrates’ name for vestibular function.2502 Scoliosis, spina psoriasis; later what we know today as bifida, dwarfism, and scapular winging are leprosy was called leontiasis by Arateus of also described inconsistently. See also Cappadocia, while Lucretius and Celsus multiple lentigenes syndrome. called it elephantiasis.5886 Kushtha (in the Indian Vedas MS of 1300 BC) was probably leopard skin appearance the same disease, but English biblical Hypointense punctate areas within the translators, using bridging Arabian medical regions of demyelination on the MRI in texts as well as Hebrew sources, rendered the leukodystrophies. See also tigroid Hebrew word tsara’ath (‘‘zaraath’’), meaning appearance. any variety of skin disease requiring separation from the tribe, as leprosy, which leprechaunism See Donohue led to use of the term for Hansen disease,2731 syndrome. the leprosy that we recognize. There is good evidence that syphilis, not leprosy, was a more likely cause of the contagions referred lepromatous leprosy (nodular leprosy, cutaneous leprosy) That form of the to in Mosaic texts. (EWM) This age-old condition was known in India disease in which the bacterial proliferation in at least 2500 years ago but was also found the skin and peripheral nervous system throughout Europe at least since the return to proceeds unabated, leading to multiple the sense of time, constructional apraxia, dysgraphia, and dyscalculia.1335, 3781
the Mediterranean shores of Alexander the Great. While it was taught that this was the commonest cause of neuropathy worldwide, limited control of the disease has meant that diabetes is now likely to be more prevalent as a cause. The various forms of leprosy are listed in Chart L–3.
leptocephaly (from Gr, thin þ head) A malformation due to premature fusion of the anterior fontanelle and the metopic suture, leading to elongation of the skull and narrowing of the forehead.4 leptomeningeal carcinomatosis A rare metastatic complication of solid tumors, usually of the breast or lung or of melanoma. It usually presents with headache, altered level of consciousness, and focal neurological deficits. Imaging shows meningeal enhancement and the CSF contains malignant cells.31
leptomeningeal cyst See arachnoid diverticula.
leptomeningeal glioneuronal heterotopias Irregular nodules of glial tissue, sometimes containing neurons, budding from the pial surface or forming nests within the leptomeninges.471
leptomeninges (Gr, thin þ membrane) The pia and arachnoid—the delicate as opposed to the coarse (dural) meninges.
leptomeningitis Inflammation of the arachnoid and pia mater. Although the term was originally used to refer to inflammation
Chart L–3. The Forms of Leprosy The tuberculoid form indicates the presence of increased resistance, as is seen mainly in African patients, in whom classically there are a few asymmetrical lesions, the skin is dry, scaly, and anesthetic in places, and there is evidence of a thin-fiber neuropathy in such areas. The lepromin test result is strongly positive and the nerves are enlarged and granulomatous. Acid-fast bacilli are not found. In an intermediate form (BT type), the clinical features are the same, but the number of lesions is markedly increased and there is more scaling induration of the skin and less evidence of neuropathy and sensory loss. In the second major form (borderline, intermediate dimorphic or BB type), the skin lesions consist of rounded red papules that are not anesthetic. Intermediate between this and the third major form is a type characterized by the presence of macular, popular, or nodular lesions that are asymmetrical (BL type) and which contain substantial numbers of acid-fast bacilli. In the third major lepromatous form (LL type), there is decreased resistance or even no resistance to the acid-fast bacilli. The Lepromin test result is negative and mycobacteria are abundant. In a diffuse variant, the whole skin is thickened; this has given rise to the name pretty leprosy as facial wrinkles are abolished; and in a nodular lepromatous form, nodules form plaques in the skin in all regions, although less upon the scalp and in the axillae and groins. A late finding in this form is the presence of generalized symmetrical polyneuropathy. In a variant form (neural leprosy), only the nerves are involved and the skin is unaffected; however, anesthetic patches are detected, mainly distally and in the colder acral parts. Dementia is a rare complication. See also mutilating acropathy and ocular leprosy.
Le´ri, Andre´ of these thinner meninges, it has now been replaced by the simpler meningitis to embrace all forms of infection of the meninges .
Le´ri, Andre´ (1875–1930) French physician who trained in Paris and took further training with Charcot and Marie at the Salpeˆtrie`re. He practiced in Paris, writing mainly on rheumatic and neurological topics.
574
Lermoyez, M. (1858–1929) French
hypoxanthine-guanine phosphoribosyltransferase,3791 overproduction of uric acid, and low levels of immunoglobulin E are commonly Lermoyez syndrome Tinnitus, found.3222, 3886 nausea, vomiting, and deafness with As a variant, some forms present late with temporary improvement in hearing after the choreiform movements, dysarthria, and renal onset of vertigo. The attacks complicate a condition of gradually increasing deafness, as stones. in Me´nie`re syndrome, but generally occur in younger adults.3788 lethal catatonia A rare syndrome otolaryngologist.
Leroy, Raoul (b. 1868) French psychiatrist.
Leroy syndrome (Lilliputian hallucinosis) The perception of hallucinations of small people, animals, etc., against a background of normal size. The phenomenon thus differs from micropsia, in which everything is seen in miniature. The occurrence of such hallucinations was recorded by Macarius in The Lives of the Saints (4th century AD) who dismissed them with the words ‘‘Arise, Oh Lord, that your enemies might be dispersed, that they may flee before Thy face; for our soul is full of illusions.’’5704 Henceforward, they were usually documented in religious mystics, in those suffering from systemic infections or in those exposed to toxic substances such as ether, hashish, cocaine, hyoscine, or caffeine. Organic brain diseases held responsible have been many and various—general paralysis of Figure L–6 Andre´ Le´ri. the insane, seizures, temporoparietal tumors, and lobar hematomas, for Le´ri reflex See Le´ri sign. example—and these hallucinations have also been reported in dementing states and in Le´ri sign (Le´ri reflex) Flexion of the elbow schizophrenia. of the patient’s relaxed arm in response to Finally, they have also been recorded in forceful and painful passive flexion of the healthy people, including Ben Jonson (the fingers and hand on that side; said to be playwright), who regarded them as products increased in subjects with lesions of the of his ‘‘overheated imagination.’’ pyramidal tracts or of the frontal lobes.3784 The difference between this and the bending Les Turner ALS Foundation, reflex is not easy to discern. Ltd. A charitable organization based at 3325 West Main Street, Skokie, IL 60076. Le´ri syndrome (pleonosteosis) A Web site: http://www.lesturnerals.org/ dominantly inherited congenital osteodystrophy with premature ossification Lesch–Nyhan syndrome of the epiphyses, leading to dwarfism, A congenital X-linked recessive syndrome corneal opacities, and cataract, and often to with the abnormal locus situated at compression of the median nerve in the chromosome Xq26, characterized clinically carpal tunnel.5809 by choreic, dystonic, and athetoid movements, pyramidal signs, hyperuricemia Le´riche syndrome Occlusion of the with urinary stone formation, mental aorta or iliac arteries causing ischemic pain retardation, and compulsive, recurrent selfin the buttocks and legs, as well as, variably, injurious behavior such as biting the lips, cheeks, and fingers. Deficiency of either impotence or priapism.3785
resembling the neuroleptic malignant syndrome, characterized by prolonged mental and physical excitement and agitation leading on to stupor and hypotension with muscle rigidity, hyperpyrexia, increased serum CK levels, and death. The condition was first described by Calmeil in 1832. Typically, the patient becomes rigid and mute, with periods of intense agitation and bizarre repetitive movements. This condition occurs in the setting of a major psychiatric disturbance with labile mood, insomnia, anorexia, increasingly disorganized thought processes, auditory and visual hallucinations, as well as bizarre delusions. Violence is occasionally a feature, and there may be unprovoked assaults and attempts at suicide. High fever, tachycardia, and fluctuations in blood pressure develop and can be followed after several days by exhaustion, coma, cardiac arrest, and death. The autonomic features and abnormal movements characteristic of the neuroleptic malignant syndrome are not seen in this condition.4044
lethal multiple pterygium syndrome A congenital recessively inherited dysmorphic syndrome characterized by low birthweight, dwarfism, hypertelorism, cleft upper lip and palate, webbed neck often with a cystic hygroma, fusion of vertebrae, hydranencephaly, congenital hernia of the diaphragm, congenital cardiac anomalies, lung hypoplasia, webbing of the elbows and knees, radioulnar synostosis, symphalangism of the fingers, and neurogenic muscle weakness.4195
lethargic encephalitis See encephalitis lethargica.
lethargy (Gr, forgetful) The ancient meaning has given way to that of a state of drowsy inertia.
575
letter fluency test A test of language in which subjects are asked to name verbally as many words beginning with the letters ‘‘F,’’ ‘‘A,’’ and ‘‘S’’ as they can within 1 min, proper names and different forms of the same word being disallowed.2732 See also Category Fluency Test and FAS Test.
leukoencephalopathy, cerebral calcifications, and cysts
leukocytoclastic angiitis See Churg–Strauss syndrome.
leukodysplasia, microcephaly, and cerebral malformation An autosomal recessive congenital microcephaly mapped to chromosome 2p16 with severe failure of postnatal brain growth, the neonatal onset of intractable seizures, lack of developmental Letterer-Siwe histiocytosis A diffuse encephalopathy of infants, who also progression, and death within 3 years. Cerebral imaging shows simplified gyration, manifest osteolytic bone lesions, hepatosplenomegaly, a reduction in all blood a nonthickened cortex, severe hypoplasia of the corpus callosum, a small flattened brain cell types with hemorrhage, and skin infiltration. The condition is a disseminated stem, and specific cystic lesions in the white matter around the temporal and occipital form of histiocytosis. horns.1092 Lettsom, John Coakley (1744– leukodystrophies A group of 1815) A popular and successful English progressive genetically determined Quaker physician working in the Virgin demyelinating disorders selectively affecting islands, where he was the first to describe the myelin of the cerebral or peripheral alcoholic peripheral neuropathy.3373 He later returned to practice in London, where nervous system. The main disorders and their subgroups were classified by he probably became aware of delirium Baraitser.379 Some additions are made in tremens and of the Wernicke–Korsakoff Chart L–4. syndrome too. leucine encephalin An opioid peptide leukodystrophy, cerebellar in the brain with a role in the mediation of deficits, and spastic paraparesis A dominantly inherited disorder with onset in early childhood characterized by progressive spastic paraparesis, cerebellar deficits, and mild leukemia A systemic hematological malignancy with neurological complications mental deterioration, resulting in severe disability in the third to fourth decades of life. including intracerebral hemorrhages, the Brain MRI shows diffuse white matter accumulation of leukemic cells within the involvement but no biochemical or genetic brain, progressive multifocal 2229 leukoencephalopathy, and infiltration of the deficits have been determined. meninges. pain perception.
leukoaraiosis (from Gr, white þ rarefied) A modern descriptive term for the presence of lucencies (patchy diffuse areas of low attenuation) in the deep white matter surrounding the frontal and occipital horns and in the centrum semiovale.2665 It is clinically associated with advancing age, a history of hypertension, motor weakness, upgoing plantar responses, and signs of the multi-infarct rather than of the Alzheimer type of dementia. The condition is a descriptive label and is associated with numerous pathologies including lacunar strokes, cerebral amyloid angiopathy, CADASIL, and possibly migraine. Diffuse confluent white matter abnormalities showing low density on CT and high intensity on T2 weighted or FLAIR MRI scans, often with irregular margins, are notable imaging findings.
leukodystrophy with brain stem and spinal cord involvement and high lactate A syndrome of slowly progressive pyramidal, cerebellar dysfunction, often with dorsal column dysfunction and with an MRI pattern showing heterogeneous cerebral white matter abnormalities and selective tract involvement over their lengths. Onset is in childhood or youth, with spasticity and ataxia mainly affecting the legs.6486
Chart L–4. The Leukodystrophies Aicardi–Goutie`res syndrome Alexander disease X-linked forms: Adrenoleukodystrophies Adrenoleukomyeloneuropathies Infantile sudanophilic leukodystrophy Cerebrotendinous xanthomatosis Cockayne syndrome 18q syndrome Glial or glioneuronal degenerations Alpers disease Canavan disease Glioneuronal degeneration Globoid-cell leukodystrophy (Krabbe disease) Infantile neuroaxonal dystrophy NBIA (Neurodegeneration with Brain Iron Accumulation) Menkes disease Metachromatic leukodystrophy Multiple sulfatidase deficiency (Austin disease) Pelizaeus–Merzbacher disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Reye syndrome Sjogren–Larsson syndrome Orphan genetic leukodystrophies Adult-onset autosomal dominant leukodystrophy Cystic leukoencephalopathy without megalencephaly Dominantly inherited leukodystrophy with cerebellar deficits and spastic paraparesis fatal infantile leukoencephalopathy (CACH, vanishing white matter disease) Hereditary diffuse leukoencephalopathy with spheroids Leukoencephalopathy, cerebral calcifications, and cysts Leukoencephalopathy with metaphyseal chondrodysplasia Ovarioleukodystrophy Vacuolating megalencephalic leukodystrophy with subcortical cysts Modified from Baraitser M. The Genetics of Neurological Disorders. Oxford, Oxford University Press, 2nd edition, 1990; and Berger, et al. (2001)554
leukoencephalopathy Any disease primarily affecting the white matter of the brain. See also posterior leukoencephalopathy, toxic leukoencephalopathy, hereditary adultonset leukoencephalopathy, and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy as well as the preceding and succeeding entries.
leukoencephalopathy, cerebral calcifications, and cysts A rare, probably recessively inherited microangiopathic syndrome of childhood manifesting these features, some of which overlap with those of Coats disease.4574
leukoencephalopathy with ataxia, hypodontia, and hypomyelination
leukoencephalopathy with ataxia, hypodontia, and hypomyelination A hypomyelination
as a result of inflammation, also described after local surgical procedures and in the elderly; a cause of ptosis.
syndrome of childhood characterized by the early onset of slowly progressive ataxia, short levels of organization A concept of stature, hypodontia, hypomyelination, and Hughlings-Jackson in which he postulated cerebellar atrophy.6843 the existence of separate hierarchically ordered brain regions that function together leukoencephalopathy with to produce a motor effect. The highest level is metaphyseal chondrodysplasia made up of centers of the prefrontal lobes and A slowly progressive X-linked syndrome of governs the most complex movements of all childhood characterized by the onset after parts of the body from the eyes to the the age of 2 of spastic paraparesis, tremor, perineum. (‘‘The central nervous system ataxia, optic atrophy, and eventually spastic knows nothing of muscles, it only knows tetraparesis and metaphyseal movements . . . There are, shall we say, thirty chondrodysplasia.4630 muscles in the hand, these are represented in the nervous system in thousands of leukoencephalopathy with combinations—that is, as very many neuroaxonal spheroids A rare, movements. It is just as many chords, dominantly inherited progressive, diffuse musical expressions and tunes, can be made white matter disorder with onset in adult out of a few notes.’’) The second level is life, characterized by seizures, evidence of composed of centers of the rolandic region frontal lobe dysfunction, pyramidal signs, (so-called motor regions of the cerebral ataxia, and mild extrapyramidal signs. cortex) and possibly of the ganglia of the MRI shows cortical atrophy and corpus striatum as well. It is responsible for multifocal white matter changes mediating complex movements of all parts of especially in frontal regions. Biopsy the body from the eyes to the perineum. The reveals the presence of axonal spheroids in lowest level, corresponding to the pons, the white matter.6483 medulla, spinal cord, and motor units, represents the simplest movements of all leukoencephalopathy with parts of the body mediated by a series of ragged red fibers See MERRF. lower motor centers.61, 800 In fact, at this last level, the CNS structures mainly function as lines of communication. leukoencephalopathy with The analogy of an army is appropriate; at vanishing white matter (CACH) A chronic progressive and episodic disease of the highest level, the general determines the childhood and youth, probably recessively strategy, namely what is to be accomplished by military means; the staff determine the inherited, manifesting episodes of mechanisms whereby that goal is to be deterioration following infections and accomplished; and, at the lowest level of minor head traumas that result in unexplained coma. The MRI findings are of organization (corresponding to the motor changes such that the signals from the white unit), the soldiers try to do it. matter resemble those of CSF as a result of extensive cystic degeneration of the cerebral Levic syndrome See progressive white matter, the cortex being nuclear ophthalmoplegia syndrome. 6484 preserved. See also fatal infantile leukodystrophy. Levin, Max (b. 1901) American leukoma A corneal scar. neuropsychiatrist, born in Latvia, who graduated from Johns Hopkins and worked levator (from Lat, to lift up) The first in neurology and psychiatry in Philadelphia name of those muscles elevating, for and Pittsburg before returning to Johns example, the eyelids, the pelvic floor, and the Hopkins and eventually becoming clinical scapula. professor of neurology at the New York Medical College. He is best remembered for levator dehiscence–disinsertion his description of the Kline–Levin syndrome syndrome Separation of the levator in 1936; his other publications chiefly palpebrae superioris muscle from its origin focused on toxic psychoses and delirium.
576
Levine syndrome See neuroacanthocytosis.
Le´vy, Gabrielle (1886–1935) French neurologist who collaborated with Roussy in describing the Roussy–Le´vy syndrome.
Lewis–Besant dystrophy A rare congenital muscular dystrophy localized to the diaphragm and pectoralis muscles and leading to early death.3817 Lewis–Sumner syndrome (multifocal acquired demyelinating sensory and motor neuropathy/MADSAMN; multifocal motor sensory demyelinating neuropathy/MMSDN) An immunemediated form of neuropathy with slow progression presenting with asymmetrical weakness (predominantly distal, asymmetric weakness mainly affecting the upper limbs but involving the cranial nerves in a few patients) with sensory impairment and atrophy and impaired sensation in the distribution of specific peripheral nerves. There is evidence of persistent multifocal conduction block over short segments of the affected nerves. Muscle cramps and fasciculations are common complaints. The CSF protein is raised in a third of cases. The condition can be distinguished from multifocal motor neuropathy by the presence of sensory involvement, the absence of serum anti-GM1 antibodies, and, in some cases, a positive response to steroids.6540 Whether this condition is the same as or distinct from multifocal motor neuropathy with conduction block or chronic inflammatory demyelinating polyneuropathy (into which state the condition occasionally evolves) is unresolved.4915, 5548 See also multifocal inflammatory demyelinating neuropathy.
Lewy (Lewey) Fritz Heinrich (1885–1950) German neuropathologist, neurologist, and psychiatrist who left Germany urgently in 1934 to live in the United States, where he held academic appointments at the University of Pennsylvania.
Lewy bodies Intracytoplasmic, eosinophilic, hyaline inclusions staining for -synuclein and ubiquitin, signifying the presence of neuronal injury and found in the cortex, substantia nigra, autonomic nervous system, basal nucleus of Meynert, and brain
Lhermitte–McAlpine syndrome
577
stem nuclei in patients with Parkinson disease, NBIA, dopa-responsive dystonia, idiopathic dementia with Lewy bodies, and some other disorders affecting the basal ganglia.3822 They are also found in the anterior horn cells in amyotrophic lateral sclerosis and have been found in asymptomatic elderly people. The most consistent association is with dementia in patients with Parkinson disease.2359 Lewy bodies are detected more frequently with increasing age.2355
Lewy body disorders Conditions comprising Parkinson disease, Parkinson disease with dementia, and dementia with Lewy bodies, or pure autonomic failure, linked by their shared basis as disorders of -synuclein metabolism. As the Lewy bodies and the neurites and oligodendroglial inclusions in multiple system atrophy are composed of -synuclein, these disorders are named synucleopathies.
Lewy neurites Nerve cell processes containing -synuclein seen in Parkinson disease with dementia, Parkinson disease, and dementia with Lewy bodies. lexical agraphia A form of agraphia marked by the impairment of writing of words but not of speech, of spelling without impairment of phoneme–grapheme conversion, nor of reading. There is thus a specific difficulty in spelling words with irregular phoneme–grapheme transformations. The condition has been reported in the context of a left parietooccipital lesion.465 lexical system One of two reading method systems (the other being the phonological system) in which reading is considered to be performed by lexical or semantic processing. This system is affected when surface dyslexia occurs, in which subjects can read pronounceable nonsense words but not orthographically irregular words.
lexicon The words contained in a
dystrophy. He also described a form of ataxia cord lesion, intrinsic or extrinsic, is capable (pseudotabes), periodic vomiting, and the of inducing it. following disorders.
Leyden ataxia See acute cerebellar ataxia.
Leyden neuritis (lipomatous neuritis) Neuropathy with fatty replacement of the degenerating nerve fibers. Leyden’s paper was entitled [On Poliomyelitis and Neuritis] and this condition may be a variant of that viral motor neuropathy.
Lhermitte syndrome 1. See peduncular hallucinosis.3832 2. See internuclear ophthalomoplegia. Lhermitte–Cornil–Quesnel syndrome (progressive pyramidopallidal
degeneration) A rare syndrome of slowly progressive degeneration of the pyramidal and pallidal systems, manifest as pathological emotionality, generalized Leyden paralysis 1. See Weber muscle rigidity, pseudobulbar palsy, syndrome. 2. Quadriplegia associated with Parkinsonian signs, and chorea. pontine hemorrhage, described by Leyden in Pathologically, there is cell loss in the basal 1875. ganglia and dentate nucleus with calcium deposition.3830, 3833 Dr. Lucien Cornil (1888–1952) was a Leyden syndrome (cerebral peduncle French physician who trained in Paris and syndrome) See Weber syndrome. worked with Roussy and Lhermitte during the First World War on spinal cord injuries. Leyden–Mo¨bius muscular He later became professor of experimental dystrophy A recessively inherited medicine at Marseille. muscular dystrophy affecting the pelvic girdle initially and beginning in adult life.3823 The classification of this among Lhermitte–Duclos disease similar syndromes is in flux. See also limb(granular cell hypertrophy, cerebrellar girdle muscular dystrophy and scapulohamartoma, dysplastic gangliocytoma of the humeral dystrophy. cerebellum, Purkinjeoma, Cowden disease, diffuse cerebellar cortical hypertrophy, Lhermitte, Jean-Jacques (1877– striated cerebellum) A sporadic or 1959) French neurologist who trained in dominantly inherited hamartomatous Paris and after graduation became chef de condition of cerebellar hypertrophy with clinique under Raymond at the Salpeˆtrie`re. onset in childhood or adult life, characterized Later, he emphazised psychiatry in his by hypertrophy of the ganglion cells in the practice and held the chair of mental diseases granular and molecular layers and excessive at the Hoˆpital Ste. Anne. He coined the term myelination of axons in the molecular layer. internuclear ophthalmoplegia (sometimes The gyri are ‘‘coarse.’’ Whether the condition known as Lhermitte syndrome), described the represents a neoplasm, a malformation, or a sign described in the next entry and hamartoma remains undetermined. peduncular hallucinosis, and made Clinical manifestations include significant contributions to the study of macrocephaly, increased intracranial pressure, narcolepsy,3828 encephalitis lethargica, and mental and developmental delay.4850, 6553 herpes, neuropathies, Huntington disease, See also Cowden disease, which may sleep, phantom limb, and disturbances of the indeed be a variant of this condition. body image.1198, 5704
Lhermitte sign (barber’s chair sign) language and their semantic definitions.3949 Described in 1924 by Lhermitte (but before him by Babinski), this is more properly a Leyden, Ernst Victor von (1832– symptom, comprising a sensation as of an electric shock or paresthesia that shoots 1910) German physician who became professor of medicine in Berlin after Frerichs. down the back and/or into the limbs when the neck is flexed or with coughing or neck He was most successful in his practice, in flexion or rotation.3834 which he concentrated on tuberculosis and neurological diseases, especially Although Lhermitte regarded the sign as poliomyelitis, tabes, and muscular diagnostic of multiple sclerosis, any cervical
Lhermitte–McAlpine syndrome A syndrome of gradual onset and slow progression affecting adults and characterized by Parkinsonism and choreic movements of the face and bulbar muscles with pseudobulbar and pyramidal signs and marked hypertonia, with only slight weakness. Pathological examination shows lesions in the putamen, globus pallidus, and pyramidal tracts.3833
Lichtenstein–Knorr syndrome
578
Lichtenstein–Knorr syndrome A lid twitch sign See Cogan twitch sign. rare, congenital, recessively inherited ataxic syndrome characterized also by progressive Liepmann, Hugo Karl (1863–1925) deafness and skeletal anomalies.3837 German psychiatrist and humanitarian who graduated in philosophy and then in medicine from Berlin and who then studied Lichtheim, Ludwig (1845–1928) further under Weigert and Wernicke. He German pathologist and neurologist who directed a mental hospital for some years but graduated from Zurich and eventually succeeded Quincke as professor of medicine then entered private practice since he was at Berne. He later removed to Ko¨nigsberg. excluded from a chair in psychiatry because Lichtheim made important contributions of his Jewish birth. He showed in 1904 that the left hemisphere is dominant for praxis in to the study of aphasia, describing subcortical aphasia in 1885, and also wrote right-handed people; other topics to which he contributed were alcoholic delirium, on the topics of pseudobulbar palsy, brain agnosias, and the effects of callosal lesions. tumors, meningitis, the spinal cord in During the final blockade of Germany in pernicious anemia (once known as Lichtheim syndrome), and oculomotor palsies, as well as 1918, he refused to eat any better than did his patients and as a result lost 60 lb, but it on general pathology.5704 was his Parkinson disease that led him to suicide in 1925. Lichtheim aphasia (subcortical sensory aphasia) A form of expressive dysphasia in which the patient is mute but able to indicate with his fingers the number of syllables in the word he would like to utter.3838
Lichtheim syndrome See subacute combined degeneration of the cord.4060
Liepmann disease Motor apraxia— the inability to perform skilled acts in the presence of normal motor power and coordination, differentiated by Liepmann into three varieties: ideational, ideomotor, and limb-kinetic.3845 See also apraxia.
ligature neuropathy Severe ischemic damage to peripheral nerves, described in lid apraxia See apraxia of eyelid opening. association with the detention of prisoners by their adversaries using tight cables to lid lag Abnormal delay in descent of the bind the limbs for prolonged periods. See eyelid when the globe of the eye rotates also handcuff neuropathy. downward. This classic sign was described by von Graefe in hyperthyroidism. See light blindness Episodic binocular Graefe sign. visual impairment related exclusively to exposure to light. The cause is usually lid nystagmus Type 1—Jerky vertical bilateral stenosis or occlusion of the internal movements of the eyelids, mimicking (but carotid arteries causing delay in the regeneration of visual pigment in the exceeding the amplitude of) an underlying relevant epithelial layer of the retina.6769 vertical nystagmus.277 Type 2—Rapid, phasic twitches of the eyelids occurring with lateral deviation of the eyes in patients with light reflex Constriction of the pupil horizontal jerk nystagmus, as in the lateral stimulated by light, the first modern medullary syndrome. Type 3—Similar description of which was that of Robert movements to the last, occurring on Whytt in 1751. convergence in the presence of cerebellar or medullary lesions.1460, 5535 Type 4—The light sleep stage Non-rapid eye association of type 3 lid nystagmus with movement sleep stages 1 and 2.280 neck extension movements during attempts at upward gaze.2400 This is described in the light stress test (photostress test) Miller Fisher syndrome. A method of assessing the degree of macular disease as opposed to optic nerve disease, based upon the impairment of lid retraction Elevation of the upper photochemical processes in the retina as a lid, giving rise to a staring gaze and result of local disease. The function tested is occurring in association with the dorsal the delay in the regeneration of visual midbrain syndrome. See also Collier sign.
pigment after retinal ‘‘bleaching’’ with the light; optic nerve disease is not associated with any delay in the return of visual acuity in this test.2401 The best-corrected vision is assessed in each eye, and then bright light is shown into one eye for 10 s. The amount of time elapsing before the patient can read one line larger than he could prior to the light stimulation is recorded, and the process is then repeated in the opposite eye. Normally, the recovery takes less than 1 min (usually less than 30 s) but in the presence of macular disease, recovery takes longer than a minute, while in the presence of optic nerve disease, the recovery time should be normal.2401
light-near dissociation Pupillary constriction occurring when a person focuses on a close object, but not in response to light stimulation. The mechanism is more likely to be found in the much more extensive innervation of the ciliary muscle than of the sphincter; after infection or other injury to the ciliary ganglion, some of the nerves passing to the ciliary muscle sprout into channels destined for the sphincter muscle instead. lightning encephalopathy Syndromes exhibited by victims of lightning strikes. In the acute stage, these include immediate but transient unconsciousness, amnesia, headache, and temporary pareses (keraunoparalysis), most likely due to circulatory arrest with hypoxic encephalopathy, less commonly due to intracranial hemorrhage or cerebral infarction. Delayed syndromes can also occur; these are progressive and include Parkinsonism, myelopathy, and a syndrome resembling amyotrophic lateral sclerosis.1136, 1137 Electrical currents delivered by Tasers (‘‘stun guns’’) also appear able to cause some of these short-term effects and even death.
lightning eye movements Uncommon fast horizontal ocular dyskinesias of small amplitude, which represent disordered saccadic deviations and which may be seen with lesions of the Parapontine reticular formation.284 See also square-wave jerks, opsoclonus, and ocular myoclonus.
lightning eyes See opsoclonus.
limb-girdle muscular dystrophy
579
lightning pains Sudden lancinating pains. occurring chiefly in the legs but also in the trunk, arms, or even head. They are paroxysmal, lasting some hours or a day or two, and represent irritation of the dorsal roots, typically seen in tabes dorsalis.1107 Similar pains occur in trigeminal neuralgia.
diseases, sporadic or variously inherited, which share the common characteristic of slowly progressive girdle and proximal limb weakness (often sparing the deltoid muscles at first) with later spread to the pelvic girdle and limbs1901 and which are not caused by a primary dystrophin deficiency. Only heelcord contractures are commonly found. Lilliputian hallucinations The Myopathic features are notable on muscle lightning polyneuropathy An acute hallucinated perception of small people, alone or with small animals. The beings are biopsy specimens and serum CK levels are polyneuropathy resulting from extensive 4709 peripheral nerve damage as a result of being mobile, colored, and generally multiple and very high. The condition starts at variable ages are seen by the subject within real external struck by lightning. Apart from death, between birth and later adult life, and it is space (which itself is of normal size). The cataract, autonomic dysfunction, renal unlikely that it represents a single entity, a Lilliputian people occasionally speak, not failure, rhabdomyolysis, and respiratory number of conditions formerly so diagnosed surprisingly in small voices. distress syndrome are also documented now being classified as, for example, The phenomenon occurs in toxic complications of this mishap.2801 congenital myopathies. Fifteen forms are encephalopathies such as those due to known, 10 autosomal recessive and alcohol, cocaine, or marijuana abuse and lightning streaks (Moore lightning (rarely) as an aura in migraine.3789 See also accounting for over 90% of cases, and 5 streaks) Brief, alarming but benign autosomal dominant. Leroy syndrome. luminous visual impressions arising as a A complete classification of limb-girdle result of separation of the vitreous from the muscle dystrophies (and of all other limb apraxia See apraxia. surface of the retina.4462 neuromuscular diseases) is provided by lightning stroke A syndrome of subtle limb placement reaction When a Dr. Alan Pestronk at his Web site http:// www.neuro.wustl.edu/neuromuscular/ cognitive impairment described in survivors healthy baby is supported and the musdist/lg.html. anterior aspect of the tibia or of the ulna of a lightning strike, manifest as loss of Genotype–phenotype correlations in is brought into contact with the edge of a consciousness with subsequent amnesia, this group are poor. Forms of autosomal table, the leg or the arm is lifted and fatigue, loss of energy, irritability, and placed on the surface of the table. See also recessive LGMD include calpainopathy, emotional lability with associated caveolinopathy, telethoninopathy, and placing reaction. impairments in attention, memory, and dysferlinopathy. Some LGMDs share visual reaction times.6509 The similarity to pathogenetic mechanisms with other chronic fatigue syndrome is obvious. limb shaking The occurrence of brief, irregular, coarse, and wavering movements forms of muscular dystrophy, such as of an arm or leg, or both; it is evidence of a the sarcoglycanopathies (LGMD2C–F) and Lihastautiliitto R.Y. A member the dystrophinopathies (Duchenne and society of the European Alliance of Muscular transient ischemic attack in the carotid Becker muscular dystrophy) and some territory2081 and occurs as a result of Dystrophy Societies based at De 376 are allelic with other forms of muscular cerebrovascular insufficiency. Muskelhandikappades Forbund RF, dystrophy. Thus LGMD1B is allelic Lantinen Pitkakatu 35, SF-0100 Turku, Finland. limb-girdle muscular dystrophy with autosomal dominant muscular dystrophy and LGMD2H is likely due (LGMD, Erb–Landouzy syndrome, Erb to mutations affecting the ubiquitin– Lille Apathy Rating Scale A 33-item dystrophy, dystrophia muscularis proteasome pathway. scale assessing manifestations of apathy such progressiva) A heterogeneous group of as reduction in everyday productivity, lack of interest, lack of initiative, extinction of novelty-seeking and motivation, blunting of emotional responses, lack of concern, and poor social life. It has been validated for use in Parkinson disease.5940
Chart L–5. Forms of Limbe-Girdle Muscular Dystrophy Dominant limb-girdle dystrophies: Much of the following information is derived from the Web site of Dr. Alan Pestronk (http://neuromuscular.wustl.edu/musdist/lg.html) with kind permission. LGMD1 subtypes present with weakness and atrophy, which are roughly symmetrical, and in some cases there are complaints of stiffness and myalgias. Bulbar signs may be present. There is occasionally evidence of cardiomyopathy. Progression is usually slow. The forms described include the following: LGMD1A (5q22, myotilin) Onset is in adult life. Dysarthria is added to the usual features. Spheroid body myopathy is a variant. LGMD1B (1q11–21, lamin A/C gene) Onset is in childhood or youth with symmetrical proximal leg weakness, contractures and frequently rigid spine, and cardiomyopathy.3454 Quadriceps myopathy is a variant. This condition is allelic with dominant Emery–Dreifuss dystrophy. LGMD1C (3p25, caveolin) Onset is from childhood to late adult life with pelvic girdle weakness and possibly calf pseudohypertrophy. Idiopathic hyperCKemia, rippling muscle disease, and distal myopathy are associated. LGMD1D (7q; 6q23?) A form with adult onset. LGMD(?1E) familial dilated cardiomyopathy (7q) Onset is in youth or adult life without cranial involvement but with significant arrhythmias, later cardiac failure and sometimes sudden death. continued
limb-girdle muscular dystrophy
580
Chart L–5. (continued ) LGMD1F (7q32) The onset of distal weakness is in youth or adult life. LGMD1G (4q21) A form with adult onset and with notable leg cramps. Biopsy shows rimmed vacuoles. Other dominantly inherited variants are: Autosomal dominant cardiomyopathy with conduction system disease Bethlem myopathy (21q22 and 2q37, collagen VI) A form allelic with Ulrich muscular dystrophy, usually presenting in infancy or early childhood with hypotonia, proximal and distal weakness, and contractures, especially in the hands. Its course is relatively benign. Multiple epiphyseal dysplasia with mild myopathy (20q13.3, collagen 9) A form with childhood onset of joint pains and symmetrical proximal girdle, including neck, weakness. Dominant myopathy with bone fragility (9p21–p22) A rare variant presenting in young adult life with proximal weakness, a tendency to bone fractures with poor healing, premature gray hair, and hernias. Dominant myopathy with cardiomyopathy Possibly the same condition as LGMD1; it presents in childhood or adult life with proximal symmetrical girdle weakness, which leads to the development of cardiomyopathy and the potential for sudden death. Dominant myopathy with ankle contractures and high CK levels A form with onset in adolescence or early adult life with proximal symmetric weakness, ankle contractures, and eventual severe disability. CK levels are very high. Barnes myopathy This is possibly the same condition as LGMD1. Other variants with earlier onset or later onset with dominant inheritance,869, 1179 the dominant form mapping to 5q22. Laing early-onset distal myopathy A form presenting with initial weakness of the hallux and of ankle dorsiflexion but with the later development of weakness of finger extension and neck flexion. Age of onset is before the age of 30 and progression is slow. The condition is due to mutations within the slow skeletal muscle heavy chain gene MYH7 and is allelic with hyaline body myopathy.3653 Other dominantly inherited myopathies include Central core disease Cytoplasmic body myopathy Centronuclear myopathy Distal myopathies Emery–Dreifuss muscular dystrophy Facioscapulohumeral dystrophies Hyperkalemic periodic paralysis Myofibrillar (desmin storage) myopathy Myotonic dystrophy Oculopharyngeal dystrophy Proximal myotonic myopathy Rippling muscle syndromes (some variants) Scapuloperoneal syndrome (most variants) Recessive limb-girdle dystrophies Much of the following is taken from the Web site of Dr. Alan Pestronk (http://neuromuscular.wustl.edu/musdist/lg.html) with kind permission. Most of the forms of LGMD2 are recessively inherited. The numerous chromosomal mutation sites variously encode for calpain-3, dysferlin, sarcoglycans, and telethonin.1660, 1732, 4166, 6954 LGMD2A (15–q15.1, calpain-3) Onset is in childhood or youth (Leyden–Mo¨bius dystrophy) or later (Erb dystrophy) with scapular, pelvic girdle, and trunk weakness with sparing of the face and hip abductors. CK levels may be normal or grossly raised. LGMD2B (2p13.3, dysferlin) Onset is in youth or young adult life with weakness affecting the legs (especially the gastrocnemii) earlier than the arms. Progression is slow and CK levels are very high. The condition is allelic with Miyoshi distal myopathy. LGMD2C (13q12, -sarcoglycan) A severe childhood form with macroglossia, resembling Duchenne or Becker dystrophy but with sparing of the quadriceps. Cardiomyopathy is an occasional complication. LGMD2D (17q12, -sarcoglycan) A mild or occasionally severe childhood form with very high CK levels. Cardiomyopathy and ventilatory insufficiency are occasional complications. LGMD2E (4q12) A severe form with onset in early childhood or youth and with very high CK levels. Cardiomyopathy may ensue. LGMD2F (5q33–q34, -sarcoglycan) A severe form with onset in childhood, with very high CK levels. Cardiomyopathy and ventilatory insufficiency may ensue. LGMD2G (17q11–q12, telethonion) A variety reported from Brazil that presents in youth with proximal and distal weakness and atrophy, often progressing to cardiomyopathy. LGMD2H (9q31–q33, TRIM32 mutation, as in sarcotubular myopathy) A form with mainly pelvic girdle and quadriceps weakness and wasting, and with slow progression, reported from Canada. Sarcotubular myopathy (9q31–q33, TRIM32) A variant of the above with onset at any time with mild facial and girdle weakness and calf hypertrophy and with exercise-induced myalgias. LGMD2I (19q13.3, fukutin-related protein gene FKRP) A relatively mild form presenting in infancy or youth with girdle weakness progressing to calf hypertrophy and with eventual cardiac and respiratory muscle involvement. Serum CK levels may be grossly raised.4555, 5077 An allelic variant is myopathy with abnormal merosin (laminin-2) (19q13.3) characterized by onset in youth or adult life of cranial, neck, shoulder, and pelvic girdle weakness and wasting, with calf hypertrophy. LGMD2J (2q13, titin) This type, reported from Finland, is allelic with a distal myopathy variant and with dilated cardiomyopathy and presents in childhood with proximal and anterior tibial weakness and wasting. CK levels are high.
limbic encephalitis
581
LGMD2K (9q34.1, POMT1) Allelic with Walker–Warburg syndrome, this type presents in childhood with proximal weakness, often with contractures and with mental retardation. CK levels are very high. LGMD2L (11p13) An adult-onset form with marked quadriceps wasting and with complaints of muscle pain. LGMD2M (9q31, fukutin) Allelic with Fukuyama congenital muscular dystrophy, this form presents in infancy with proximal and distal weakness and hypotonia and very high CK levels. LGMD4 A geographically restricted condition, possibly a variant of LGMD2E. A recessive or sporadic form with pelvi-femoral involvement.6107 Adult-onset autophagic vacuolar myopathy with multiorgan involvement A sporadic disorder described once in Japan, characterized by the adult onset of proximal weakness with achromatopsia, retinal pigmentary degeneration, optic atrophy and subsequent blindness, exertional pain, cardiomyopathy, and pulmonary fibrosis. Autosomal recessive dystrophy of childhood, resembling Duchenne dystrophy, but more benign and affecting both sexes. The condition is more common in Tunisia and in parts of the Middle East.502 Childhood autophagic vacuolar myopathy A rare variant described in the UK with the onset in youth of neck and girdle weakness and knee contractures. Familial partial lipodystrophy with associated somatic and/or cardiomyopathy. Infantile autophagic vacuolar myopathy Described in Japan; a form presenting with congenital hypotonia, developmental delay, and cardiomyopathy, leading to early death. Late-onset limb-girdle muscular dystrophy with diabetes A myopathic syndrome with onset in adult life, characterized by proximal myopathic weakness with cataracts and diabetes.6157 LGMD with quadriceps femoris asymmetrical atrophy A recessive variant (11p12) characterized by atrophy and weakness of the hamstrings and adductor magnus in which there is fatty infiltration. Serum CK values vary from normal to very high.3171 Limb-girdle muscular dystrophy and Wolff–Parkinson–White syndrome A myopathic syndrome with onset in adult life, characterized by proximal myopathic weakness and cardiomyopathy.6709 Limb-girdle myasthenia Quadriceps myopathy X-linked limb-girdle dystrophies (myopathies) Much of the following is taken from the Web site of Dr. Alan Pestronk (http://neuromuscular.wustl.edu/musdist/lg.html) with kind permission. Barth syndrome (X-linked dilated cardiomyopathy) (Xp28, tafazzin) characterized by the onset in infancy of hypotonia due to a mild and nonprogressive proximal myopathy and later cardiomyopathy, which is eventually lethal. The serum CK levels are normal. Becker muscular dystrophy A dystrophinopathy (Xp21) A variant is partial dystrophin deficiency (Xp21) a recessively inherited form. Danon disease (X-linked vacuolar cardiomyopathy and myopathy) (Xq24, LAMP-2) Duchenne muscular dystrophy A dystrophinopathy (Xp21) Emery–Dreifuss syndrome (Xq28, emerin) McLeod Syndrome (Xp21.1, XK) Other variants are Barth-like syndrome with mitochondrial mtRNA Leu mutation, which has a similar presentation; and a form with scapulohumeral, pelvic-femoral muscle, and cardiac muscle involvement (atrioventricular conduction blocks and dilated cardiomyopathy).503 X-linked myopathy with excessive autophagy (Xq28) A form with onset in the first 20 years of life, presenting with slowly progressive, mild girdle weakness and with the development of cardiomyopathy. Mental retardation, hepatomegaly, and retinopathy are also described. Female carriers present the same phenotype in a milder form. In one variant form, there is no mental retardation and onset may not occur until mid-adult life. Another variant is scapuloperoneal muscular dystrophy with mental retardation and lethal cardiomyopathy.
limb-girdle myasthenia A rare syndrome of abruptonset, manifestingproximal weakness and fatigability without involvement of the bulbar or extraocular muscles, occurring in childhood or adult life. It is likely that this is a heterogeneous group of conditions.1862, 2007 limb-kinetic apraxia See apraxia. limbic (Lat, edged, a border, or fringe— hence ‘‘limbo,’’ the suburbs of hell)5886
limbic dementia A rare amnestic syndrome with cognitive and behavioral changes including marked confabulation, denial of illness, distractibility, and change
of affect, resulting from complete, selective limbic lobe destruction in a previously normal nervous system. The functions primarily lost, however, are not those cognitive abilities usually associated with intelligence, but those that add an affective quality to all perceptions. Clinically, the presentations resemble both the Wernicke–Korsakoff and the Klu¨ver– Bucy syndromes. Herpes simplex encephalitis is a typical cause.2296
parts of the limbic system gray matter, resembling those of a viral encephalitis and complicating small cell lung carcinoma in most cases. The clinical manifestations include personality changes, irritability, depression, and seizures followed within weeks by an abrupt permanent impairment of recent memory leading to clinical dementia, variable focal neurological signs stemming from medullary, spinal, or peripheral nerve altered limbic encephalitis A paraneoplastic disease, and subsequently1290, 2296 consciousness and death. syndrome of the CNS occurring in adult The diagnosis of PLE requires life and due to sterile inflammatory or neuropathological examination or the degenerative changes in the temporal
limbic epilepsy
582
line bisection test A diagnostic maneuver to detect evidence of visual neglect, in which the subject is asked to draw vertical lines bisecting each of several horizontal lines randomly printed on the right- or the left-hand side of a sheet of paper. In the presence of neglect, the point marked will veer toward the damaged, CSF with inflammatory changes but neganondominant hemisphere, and thus away tive cytology; from the neglected side. The lines on the MRI demonstrating temporal lobe abnormalities; right-hand side of the paper may also be EEG showing epileptic activity in the temignored. By using multiple lines, the test poral lobes.2637 discriminates between right and left Commonly associated neoplasms are small limit dextrinosis See glycogen storage hemisphere lesions, whereas to ask a patient to bisect a single line is unlikely to yield such cell carcinoma of the lung (50%), and diseases. information.5596 carcinomas of the testis and breast. Neurological symptoms precede the cancer limit-setting sleep disorder A diagnosis in most patients by a median of 3 linear envelope EMG Moving childhood disorder characterized by the months or so. Antineuronal antibodies (antiaverage of the full wave rectified EMG, inadequate enforcement of bedtimes by a Hu, anti-Ta, CRMP5, ANNA-3) are present obtained by low-pass filtering. See also caretaker, with the child’s resultant stalling in most cases. Pathologically, perivascular integrated EMG. or refusal to go to bed at an appropriate inflammatory infiltrates, microglial nodules, time.1629 neuronal loss, and gliosis are the major linear scleroderma (‘‘scleroderma en features seen especially in Ammon’s horn coup de sabre’’) A rare sporadic form of limited chronic focal and the amygdala but also in the localized scleroderma characterized by an encephalitis A likely variant of hypothalamus, orbitofrontal cortex, and Rasmussen syndrome, more limited and less atrophic band-like region of induration cingulate gyri. as a result of collagen deposition in the malignant than the original.2266 See also juvenile acute nonherpetic forehead and scalp, extending deeply to encephalitis. involve also the underlying muscles and limp man syndrome A rare bone, and leading to local atrophy as in limbic epilepsy Epileptic syndromes in syndrome characterized by intermittent the Parry–Romberg syndrome of attacks of hypotonia with failure to maintain idiopathic progressive facial which complex focal (‘‘partial’’) seizures partial, involving the medial aspect of the temporal posture as a result of continuous, hemiatrophy. The condition may be a fluctuating cataplexy.6009 lobe are associated with behavioral neurocutaneous syndrome of vascular disturbances and evidence of dysplasia similar to the Sturge–Weber psychopathology, such as the Lindau, Arvid (1892–1958) Swedish syndrome. schizophrenia-like psychoses.6375, 6702 pathologist who trained at Lund and in Neurological complications include Europe and America before returning to complex partial seizures, headache, and focal Lund, where he was eventually appointed neurological signs. Brain MRI may show limbic lobe Also known as the gyrus professor of pathology. predominantly ipsilateral relapsing and fornicatus (Lat, arched gyrus), the lobe on the remitting gray and white matter lesions, medial aspect of the cerebral hemispheres was so called by Thomas Willis, who noted Lindau disease Cavitating myelopathy cerebral atrophy, ventricular enlargement, and parenchymal calcifications which with that the structures comprising it encircle the due to spinal hemangioblastoma. CSF and brain biopsy results provides gray matter of the thalamus and basal evidence of an underlying inflammatory ganglia. These structures include the Lindenov–Hallgren syndrome A process.6072 cingulate and parahippocampal gyri, the syndrome of infancy characterized by the Although the condition overlaps with hippocampal formation, fornix, amygdala, combination of pigmentary retinal some collagen vascular diseases, it is more mammillary bodies, mammillothalamic degeneration, congenital deafness, and likely to be a developmental or focal tract, and the dorsomedial and other vestibulocerebellar ataxia, often with mental inflammatory disorder.1174, 5466 3853 thalamic nuclei. retardation. presence of the following four criteria: (i) a compatible clinical picture; (ii) an interval of 460 ms (normal It should be differentiated from reflexes lotus footdrop Sciatic neuropathy in 15 days/month with discontinuation of exogenous hormones. 1. Bilateral 2. Pressing/tightening quality 3. Mild or moderate intensity
at least one of the following characteristics and fulfilling criteria C and D: Predominantly unilateral Pulsating quality Moderate or severe intensity Aggravated by or causing avoidance of routine physical activity (e.g., walking or climbing stairs) 5. Associated with at least one of the following:
1. 2. 3. 4.
Based on the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]).
medullary respiratory centers Dorsal and ventral nuclear masses (the solitary nucleus and tract, and the nucleus ambiguus) which act as pattern generators for respiratory activity.
medullary satiety Diminution in appetite and early satiety, thought to be due to a lesion of the area postrema in the medulla.4137 medullary sheath The Schwann cell layer of peripheral nerves; the investment of myelin-containing Schwann cells surrounding the axons. medullary tegmental paralysis See Babinski–Nageotte syndrome.
Medin, Oskar (1874–1928) Swedish physician in Stockholm. He described the Stockholm poliomyelitis epidemic of 1887 in great detail, and the disease was accordingly known for some time by the name of Medin and of Heine.
medullary tube The tube formed by the closure and union of the laminae dorsales in the embryo, and from which the brain and spinal cord develop. Its walls constrict to a, nausea and/or vomiting become the forebrain or proscencephalon, b. Photophobia and phonophobia the interbrain or thalamencephalon, the B. Triptan intake (any formulation) on 10 medioplantar reflex (of Guillain and midbrain or mesencephalon, the hindbrain days/month on a regular basis for 3 or epencephalon, and the afterbrain or Barre´) Tapping the heel or the middle of months metencephalon. The tube itself becomes the the sole elicits plantar flexion of the ankle C. Headache frequency has markedly cerebral ventricles of the brain and the in patients with pyramidal lesions. This increased during triptan overuse central canal of the spinal cord. D. Headache reverts to its previous pattern represents merely an alternative method of within 2 months after discontinuation of eliciting the ankle jerk. triptan. From the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.
See also analgesic overuse headache. For opioid-overuse headache combination medication-overuse headache and exogenous hormone-induced headache, broadly similar diagnostic criteria have been defined. Thus, for opioid-overuse headache
medium chain acylCoA dehydrogenase deficiency See acylCoA dehydrogenase deficiency.
MEDLINEplus A US Government site that provides extensive information about diseases for patients. Web site: www.nlm. nih.gov/medlineplus/neurologicdiseses general.html.
medullated (myelinated) nerve fibers (myelinated nerve fibers) Those
nerve fibers which are individually surrounded by myelin-containing Schwann cells and which are thus greater in diameter, visibility, and conductive ability than the nonmedullated fibers which are invaginated into nonmyelin-containing Schwann cells.
medulloblastoma (Cushing tumor, medullomyoblastoma) A malignant primitive neuroectodermal tumor arising MedLink Neurology A neurology from the cerebellum (in children, from the on-line textbook, available by paid vermis or medullary velum) and composed of subscription. Web site: www.medlink.com/. sheets of small, round cells with oval A. Headache is present on >15 days/month hyperchromatic nuclei and small amounts of and fulfills criteria C and D Medscape A commercial Web site fibrillary cytoplasm, frequently arranged in B. Opioid intake on 10 days/month for covering many areas of medicine, including rosettes with the nuclei at the periphery of the >3 months neurology. http://www.medscape.com/ cells. Local invasion of the cerebellum and C. Headache has developed or markedly neurologyhome/. brainstem is usual, and the tumor seeds worsened during opioid overuse throughout the spinal subarachnoid space in D. Headache resolves or reverts to its many cases. This is the commonest primary previous pattern within 2 months after medulla oblongata (Lat, marrow þ brain tumor in childhood. Unbalanced oblong shape) That part of the brainstem discontinuation of the opioid. translocations, with loss of chromosome 17q between the pons and the spinal cord. For combination medication-overuse headache, Formerly, according to Willis and others, the and changes in chromosome 1, are the it is suggested that a mild or moderate, commonest karyotypic abnormality described. word signified the entire brainstem, but it bilateral, pressing/tightening Clinically, it presents with signs of has been restricted to its present extent since (nonpulsating) headache is present for >15 Haller’s text published in 1750.5886 midline cerebellar and medullary
medulloepithelioma
612
dysfunction and ultimately leads to signs of megaduodenum, redundant colon, and megacystis; type 2 is recessively inherited and raised intracranial pressure.1364 is characterized by dilatation of the stomach Variants include desmoplastic and the small intestine with external medulloblastoma, in which local invasion of ophthalmoplegia and ptosis.642 the meninges leads to the occurrence of an intense fibrous reaction; medullomyoblastoma in which striated muscle and epithelial cells megadolichobasilar anomaly appear; and medulloepithelioma, characterized (S aneurysm) A rare condition consisting of the abnormal elongation and widening of the by the tubular arrangements of cells basilar arteries, usually in adult males, first resembling the ‘‘epithelial’’ cell pattern in described by Dandy in 1947. The distortion the primitive neural tube.6 may be so great that aqueductal and cranial nerve compression syndromes result.699 medulloepithelioma A primitive, highly malignant tumor of the cerebral megalencephalic hemispheres containing a columnar leukodystrophy with cysts A rare epithelial layer resembling that of the recessively transmitted disorder mapped to primitive neural tube,3305 lacking cellular 22qtel and characterized by macrocephaly, differentiation and frequently hemorrhage and necrotic. It occurs in the first 5 years of slow progressive delay in development and mild mental deterioration followed by slowly life. See medulloblastoma. progressive ataxia, pyramidal tract involvement, and seizures. MRI shows diffuse medullomyoblastoma See cerebral white matter lesions and subcortical medulloblastoma. temporopolar and frontal cysts.6352, 3544
Mees lines Single solid white bands across the finger- and toenails, a sign of arsenic intoxication at least 2 months before (on appearance) and 5 months before if the bands have reached the free edge of the nails. Multiple episodes of arsenic ingestion lead to multiple bands.
meeting badge neuropathy Superficial radial (sensory) nerve injury as a result of compression against this personal label when the arms were crossed for a prolonged period. See also cheiralgia paresthetica.
MEG See magnetoencephalography. megaconial myopathy A familial muscular disorder presenting with slowly progressive weakness from infancy and associated with an excess of giant mitochondria and morphological inclusions within such organelles.5822 This is a member of the group of benign, nonprogressive congenital myopathies presenting in infancy with weakness and hypotonia which result in significant motor delay. megacystis–microcolon– intestinal hypoperistalsis syndrome (Berdon syndrome)
megalencephaly (Gr, big þ brain) (macrocephaly) Enlargement of the brain with or without histological abnormalities, as shown by a rapid increase in the occipitofrontal circumference of the head above the 98th percentile during the first year of life. This occurs with such infiltrative or storage diseases as GM2 gangliosidosis, Niemann–Pick disease, sulfatidosis, tuberous sclerosis, and glioblastomatosis, and also as a familial characteristic without associated disease. The primary form is developmental or it can be associated with
other inherited disease. In the secondary form, the brain enlargement results from the accumulation of excessive lipid. See also macrocephaly, megalobarencephaly, megalocephaly, and microcephaly. A Web site providing data on these subjects, compiled by NINDS, is found at: http:// www.ninds.nih.gov/disorders/megalence phaly/megalencephaly.htm. Anatomic and metabolic forms are recognized. In the former, the brain is enlarged because of an increase in the number or size of its cells. In the latter, the enlargement reflects the accumulation of a metabolic product without any increase in the number of cells. Diagnostic criteria are given in Chart M–4. In a variant form, megalencephaly is associated with polymicrogyria and hydrocephalus.404
megalobarencephaly An abnormal increase in the weight of the brain. This is a more accurate term than the foregoing, in that a brain may be enlarged as a result of hydrocephalus, but it remains susceptible to misinterpretation in the presence of brain edema. megaloblastic madness Cognitive and emotional symptoms resulting from deficiency of vitamin B12. megalocephaly The word usually employed to indicate enlargement of the head, although the derivation suggests rather enlargement of the brain. See also megalencephaly.
Chart M–4. Diagnostic Criteria for Asymptomatic (Benign) Familial Anatomic Megalencephaly1575 1. Occipitofrontal circumference (OFC) more than 2 standard deviations above the mean or above the 98th percentile. 2. No clinical evidence of increased intracranial pressure in the form of bulging fontanelles, palpably split sutures, or persistent vomiting. 3. Normal developmental and neurological examination findings. 4. Absence of any neurocutaneous signs, or craniofacial, or somatic anomalies that may identify a specific syndrome. 5. At least one parent or sibling has a large occipitofrontal circumference but is neurologically normal, or the increased OFC can be traced through several generations. 6. Follow-up visits establish the normality of the patient’s developmental course, and the OFC curve levels off and, although it remains high, begins to parallel the normal curve. 7. Radiographic demonstration of normal or only slightly enlarged ventricles in one of the family members with an enlarged OFC, establishing that the condition is megalencephaly, not arrested hydrocephalus or some other lesion. 8. Negative chemical screening test results for metabolic disorders or lysosomal enzyme deficits in those patients lacking some of the other criteria.
A congenital visceral myopathy with two variant types: type 1 is dominantly inherited Adapted from DeMyer W. Megalencephaly; types, clinical syndromes and management. Pediatr Neurol and is characterized by esophageal dilatation, 1986;2:321. Reproduced by kind permission of Elsevier Science.
Melkersson–Rosenthal syndrome
613
megalocornea with skeletal abnormalities A congenital dysmorphic syndrome characterized by frontal bossing, low-set posteriorly rotated ears, hypertelorism, macrocornea, micrognathia, open-mouth appearance, gibbus, kyphoscoliosis, camptodactyly, clubfoot, macrocephaly, and mental and developmental delay.381
megalocornea-mental retardation See Neuhauser syndrome. megalopapilla Congenital enlargement of the optic disk, sometimes associated with midline cranial defects, dysmorphism, and midline clefting.2450
megalopsia Exaggerated macropsia, a condition in which everything looks abnormally big. A word generated by neologismophiles for neologismophiles. megaphagia Excessive ingestion of food without inducing hunger; often a compulsion. The condition should be distinguished from morbid hunger. The word was suggested by Critchley as more precisely derived than hyperphagia in the context of the Kleine–Levin syndrome. megaseme The term of Charcot for a skull with an orbital index greater than 90, but this measurement is not now considered to be of practical usefulness. megasthenic Possessed of great muscular power. The necessity for the word must be limited, but it is reassuring to come across an exaltation of the normal in a work otherwise devoted to the abnormal.
in similar dystonic postures, the name of Breughel has been added to that of Meige (see next entry) but unaccountably those of Stanley Spencer and William Blake (British artists of the distortive school) have not.4290
Meige syndrome (idiopathic orofacial dystonia, Breughel syndrome) A segmental cranial dystonia of adult onset characterized by blepharospasm, oromandibular dystonia, apathy, depression, tics, bulbar weakness, rigidity, chorea, and tremor at rest. See cranial dystonias.
melanomatosis (primary diffuse meningeal melanomatosis) A rare variant of primary malignant melanoma of the CNS with extensive leptomeningeal invasion, presenting with intracranial hypotension and nonspecific neurological deficits. CT scans show hydrocephalus with effacement of the cerebral convexity sulci and abnormal contrast enhancement in the fissures, while MR shows diffuse dural and leptomeningeal contrast enhancement.5037
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke; OMIM 540000) A maternally transmitted mitochondrial Meinecke syndrome A congenital disease with onset in infancy or childhood, dysmorphic syndrome characterized by characterized by recurrent migraine-like brachydactyly (short, broad thumbs), wideheadaches, vomiting, hemiplegia (‘‘strokespaced teeth, speech delay, patchy like episodes’’ not conforming to known pigmentation of the skin, seizures, and vascular territories), and hemianopia. 381 mental and developmental delay. Other features include dementia, partial seizures, cortical blindness, ataxia, deafness, Meissner, Georg (1829–1905) short stature, intracranial calcification, and German anatomist, professor of physiology cardiomyopathy. Increased lactate levels in the and anatomy at Basle, later at Freiburg and blood and CSF, ragged red fibers/abnormal Go¨ttingen. mitochondria in muscle biopsy specimens, and spongy degeneration of the cortex with basal Meissner’s corpuscles Expansions of gangion calcification are the laboratory sensory nerve endings, sensitive to touchabnormalities usually detected.1645, 4941 pressure. Noninsulin-dependent diabetes mellitus may also develop. Myoclonus, cerebellar lesions, Meissner’s plexus The submucous retinal pigmentary changes, and heart block plexus of the intestine, described in 1853. are not present. Diagnostic criteria have been suggested as follows:2914 melancholy See chronic fatigue 1. Stroke before the age of 40 syndrome. 2. An encephalopathy characterized by melanocytoma (cellular blue nevus)
A rare, relatively benign pigmented nevoid tumor of the meninges or elsewhere, presenting as an intradural, extrinsic mass lesion. The histological patterns resemble megrim (from Middle English and Fr, a those of Schwannoma, dermal nevi, and headache; derived from Gr, a pain on one side neuroblastomas, and the tumor shows positive immunochemical reactions for the of the face) An obsolete term for migraine, S-100 protein.3630 but applied still to a staggering disease in horses.
melanodermic leukodystrophy
seizures, dementia, or both 3. Blood lactic acidosis or ragged red fibers in skeletal muscle, or both.
Diagnostic criteria for the associated headache2820 suggest that this resembles migraine with or without aura in association with stroke-like episodes and seizures in the presence of the 3243 point mitochondrial DNA mutation in the tRNA Leu gene or other DNA MELAS point mutation. See also MERRF and mitochondrial diseases.
Meige, Henri (1866–1940) French
See adrenoleukodystrophy.
neurologist who trained in Paris and studied with Charcot. He gave the first good description of the symmetrical dystonic spasms of the facial muscles occurring in oromandibular dystonia, and of Munchausen syndrome. He was cofounder of the Revue Neurologique and of the Socie´te´ de Neurologie in Paris. Because some paintings by Pieter Breughel the Elder (1525–1569) depict faces
Melkersson–Rosenthal syndrome The unusual combination of
melanoma A tumor usually arising from neural crest tissues and skin, commonly malignant and with likely autosomal dominant inheritance, mapped in some cases to 9p. In familial cases, other family members may have at least multiple dysplastic nevi of the skin. Cerebral or optic gliomas appear to be associated. Multiple secondary metastases to the brain are common.3338
recurrent facial palsies with facial edema, migraine headaches, and fissuring of the tongue (lingua plicata).4295 Ocular complications are also described. Miescher cheilitis is considered to be the same thing.3113 The syndrome is usually sporadic, but dominant inheritance has been recorded. Hubschmann described it in 1894, Melkersson in 1928, and Rosenthal in 1931.
melodic intonation therapy
melodic intonation therapy The utilization of the retained capacity of some aphasic patients to sing when they cannot speak, whereby short phrases are incorporated first into a musical recitative and thereafter into progressively less and less intonational speech. One recalls the epigram of Dr. Samuel Johnson: ‘‘That which is too silly to be said may yet be sung,’’ but that was in the context of opera. The success of the method is thought to indicate the recruitment of the undamaged right hemisphere into the process of language production.108, 24
membrane instability The tendency
614
four-item delayed free- and cued-recall test of memory impairment, usable as a screening test for dementias.958
Memory Loss Scale An abbreviated test of mental status emphasizing orientation, but also assessing attention, abstraction, mental tracking, language, memory, and praxis.4091
memory tests See Computerized Everyday Memory Battery, Wechsler Memory Scale,6686 Memory Assessment Clinics Test Battery, Memory for Designs Test, Memory Impairment Screen, MiniMental State Examination, Recognition Memory Test, Buschke selective reminding tests, Babcock sentence, and Rey tests. Lezak3825 has provided a critique and compendium of the tests available.
of a cell membrane to depolarize spontaneously, with mechanical irritation or after voluntary activation. It may be used to describe the occurrence of spontaneous single muscle fiber action potentials such as fibrillation potentials during needle electrode menace reflex See palpebral reflex. examination. (From the 2001 Report of the Nomenclature Committee of the American Mendel, Kurt (b. 1874) German Association of Electromyography and neurologist. Electrodiagnosis.19 Reproduced by kind permission of the AANEM.)
Mendel–Bekhterev sign memory (from Lat, memoria, memory) The ability to retain and recall experiences; a physical system by which a record or representation of organized spatiotemporal events is made which thus can be carried forward in time. One mechanism (explicit memory) deals with those memories for which there is conscious awareness and is dependent upon frontotemporal cortex, hippocampal, and perirhinal function. In the other form (implicit memory) the memory is acquired without intention, is maintained without awareness, and does not depend on hippocampal function.1743 See also episodic memory, working memory, semantic memory, and procedural memory.
1. (dorsocuboidal reflex, tarsophalangeal reflex, dorsal foot response) Percussion over the dorsal aspect of the cuboid bone leads to plantar flexion of the toes in patients with pyramidal lesions. The normal response is dorsiflexion.4305 See dorsal foot response. 2. (carpometacarpal reflex, carpophalangeal reflex) In the hand, percussion over the carpal bones causes flexion of the wrist and fingers in patients with pyramidal lesions.
Figure M–3 Prosper Me´nie`re.
was a brief mention of vertigo in patients who died suddenly and had had a bloodtinged or grayish exudate in the semicircular canals; the cause of this was not given, but Me´nie`re considered tuberculosis was the likely cause in one patient.6083
Me´nie`re disease Idiopathic,
symptomatic, endolymphatic hydrops leading to a syndrome of intermittent aural vertigo with nausea, vomiting, progressive tinnitus, and low-tone deafness with increased endolymphatic pressure. The name was once applied to suppurative or hemorrhagic labyrinthitis as well. This relatively common syndrome was first described in 1861,4312 but Me´nie`re followed this with a further series of papers Mengel syndrome A recessively on the same subject. Hallpike and Cairns inherited syndrome characterized by earlyshowed in 1938 that dilatation of the onset severe neural hearing loss, leading to membranous labyrinth was commonly complete deafness after the age of 6 years, but associated.4887 Jonathan Swift had given a normal vestibular responses.4311 good personal description of the condition Memory Assessment Clinics Me´nie`re, Prosper (1799–1862) French 100 years before the medical description. Test Battery A complex memory test otologist who trained in Angers and Paris meningeal angiomatosis See and initially was assistant to Baron instrument assessing also attention and Dupuytren at the Ho¨tel Dieu. He failed in Sturge–Weber syndrome (van Bogaert–Divry psychomotor speed, and designed to assess memory function in normal elderly subjects his attempt to become professor of medicine form). in Paris, but instead directed the Institute for and patients with age-associated memory meningeal apoplexy An ancient Deaf-Mutes, which provided him greater impairment or Alzheimer disease.3702 experience in the diagnosis and management term for subarachnoid hemorrhage. of otological problems, and also more time to Memory for Designs Test An devote to the study of literature, of which he meningeal carcinomatosis See instrument for assessing visual recall and carcinomatous meningitis. reproduction,2544 and thus right hemisphere was passionately fond. The syndrome that he described was function. certainly that known today by his name, but meningeal gliomatosis Diffuse or the only evidence which he adduced for his multifocal invasion of the cranial and/or Memory Impairment Screen belief that the lesion affected the inner ear spinal leptomeninges by malignant glioma. A validated, sensitive, and specific 4-min,
meningocerebral angiodysplasia
615
meningiomas in Chart M–5.
are frequently found in its rare familial forms, almost all these patients having neurofibromatosis (NF2). An extracranial origin is rare and metastasis quite exceptional, but recurrence not uncommon. They represent about 20% of all intracranial tumors. Their slow growth leads to late detection in most cases; although headache, visual disturbances, loss of intellectual functions, and memory disturbances are common presentations, certain features are typical at different sites. Olfactory groove meningiomas sometimes cause uni- or bilateral anosmia. The histological appearances vary and numerous variant subtypes are differentiated (see Chart M–5). The tumor was first described by Felix Platter in his book Observationem in Hominis Affectibus (1614) but first fully documented by Cushing,1391 who noted their origin from cell rests in the arachnoid; their appearance as solid masses or en plaque; the associated cranial hyperostosis; and the particular sites whence they arise, which he listed as intraspinal, foraminal, suprasellar, olfactory groove, sphenoidal ridge, sylvian cleft, convexity (including parasagittal, falx, and true convexity tumors), transverse sinus, and cerebellopontine angle. They may also occur (rarely) in the lateral ventricles.
meningioma (dural endothelioma,
meningioma en plaque The
The condition was considered rare before more recent studies showed otherwise.6940
meningeal hemorrhage An old term for extradural hemorrhage.
meningeal hydrops See idiopathic intracranial hypertension and arachnoid diverticula. meningeal sarcoma An uncommon malignant tumor arising from the arachnoid and resembling a fibrosarcoma or malignant fibrous histiocytoma histologically, but liable to recur, invade, and metastasize. meninges (from Gr, a membrane) The membranous coverings of the CNS, comprising the dura mater, arachnoid, and pia mater.
meningioangiomatosis without neurofibromatosis An uncommon cerebral dysplasia characterized by the localized proliferation of fibrous tissue in the arachnoid membrane and by perivascular fibrous tissue infiltration of the subjacent cortex. Clinically, the condition presents with seizures.3601
meningioblastoma See anaplastic
contiguous spread through the CSF to other locations. This happens in less than 10% of the population with meningiomas.
meningism (meningismus) A clinical syndrome resembling mild meningitis, and due to irritation without direct infection of the meninges. See serous meningitis. meningismus See meningism. me´ningite de voisinage See parameningeal infections.
meningitis Inflammation of the meninges by bacterial, viral, fungal, or other infectious agents or as a result of chemical irritation or malignant invasion. Leptomeningitis is the usual alternative term, indicating that the finer meninges are affected. Pachymeningitis indicates inflammation of the dura. Basal meningitis is that form in which the meninges of the skull base are maximally affected; chronic lymphocytic and carcinomatous (malignant) meningitis and spinal arachnoiditis are entered elsewhere.
meningitis circumscripta spinalis See chronic spinal meningitis. meningitis serosa circumscripta
appearance of a meningioma that forms a Nonpurulent meningitis with focal signs, flattened mass, usually adjacent to the dura resulting either from subjacent cortical mater at the skull base or over the convexity. infarcts or from the presence of loculated arachnoid, forming cysts and giving rise to meningiomatosis The presence of signs appropriate to an expanding mass multiple meningiomas arising due to lesion. For the spinal form meningitis serosa circumscripta spinalis, see spinal arachnoiditis. Chart M–5. Varieties of Meningioma Pathology
fungus durae matris) The most common benign and slow-growing brain tumor of adult life arising from the meningoepithelial arachnoid cells of the arachnoid membrane or from the choroid plexus. Multiple deletions of chromosome 22 (22q12.3-qter)
Meningoepithelial (syncytial) meningiomas are characterized histologically, by the uniformity of nuclei with prominent nucleoli, the formation of whorls of cells, the presence of desmosomes between adjacent cells and of fibrous collagenous bands within the tumors, and by the absence of reticulin in most forms. Fibroblastic meningiomas are characterized by the presence of sheets of elongated spindle cells with arachnoid cell nuclei; they contain psammoma bodies. Transitional meningiomas combine features of both fibroblastic and meningoepithelial meningiomas. Psammomatous meningiomas contain numerous psammoma bodies. Angiomatous meningiomas resemble syncytial or transitional forms but contain many blood vessels, around which reticulin is prominent. Angioblastic meningiomas comprise hemangioblastic forms that resemble hemangioblastomas located elsewhere in the body; and the hemangiopericytic variety, which contains numerous thin-walled blood vessels and which has a strong tendency to invade locally and to recur after removal. Papillary meningiomas contain collagenous cores of papillae comprised of sheets of uniform cells; pseudorosettes are common. These tumors are aggressive in their growth. Anaplastic meningiomas are malignant tumors with the usual histological features thereof, and may invade locally, recur, and metastasize.6 See also meningeal sarcoma. Forms in which bone, fatty tissue, cartilage cells, or melanin are present.
meningitis tuberculosa chronica circumscripta A subacute or chronic variety of tuberculous meningitis in which the tubercles elicit a jelly-like exudate upon the meninges, in which there is but a limited mesodermal reaction.6819
meningocele A defect of neural tube closure at any level of the neuraxis, leading to the exposure of meninges, which do not contain nervous tissue. There is no associated neural deficit.4358
meningocerebral angiodysplasia A developmental anomaly of the cerebral vasculature, characterized by the presence of multiple tortuous and dilated vessels on the surface of
meningococcal meningitis
616
the cerebral cortex, with subjacent infarcts and calcification.
the finding of high levels of a-fetoprotein in menopausal muscular the amniotic fluid and in maternal blood. dystrophy See chronic polymyositis.
meningococcal meningitis
meningovascular syphilis A form
(cerebrospinal fever) An acute meningitis seen mainly in youth, resulting from infection with Neisseria meningitidis, a grampositive diplococcus. The condition was described first by Thomas Willis in his book The London Practice of Physick (1684) and next by Gaspard Vieusseux (1746–1814), a Geneva physician in 1805.5619 The organism was first discovered by Anton Weichselbaum (1845– 1920), a German pathologist, in 1887.
meningoencephalitis Inflammation of the meninges and of the underlying substance of the brain.
of tertiary syphilis, characterized by cerebral arteritis and by lymphocytic infiltration of the meninges with or without gummas. The clinical effects result from a basal meningitis with optic and lower cranial nerve involvement, and from multiple small cerebral infarcts resulting from obliterative endarteritis. Pachymeningitis cervicalis hypertrophicans is a variant in which the cervical meninges are matted together, leading to compressive and vascular myelopathy.
menstrual-associated sleep disorder A disorder of unknown cause, characterized by a complaint of either insomnia or excessive sleepiness temporally related to the menses or menopause. Three forms are delineated: premenstrual insomnia, premenstrual hypersomnia, and menopausal insomnia.1629
menstrual-associated syndrome A syndrome characterized by marked hypersomnolence in association with menstruation.639
meningomyelocele A severe defect of
Menkes disease 1. (trichopoliodystrophy, kinky-hair disease, steely-hair disease) An X-linked recessive degenerative disorder due to a deficiency of copper as a result of its impaired absorption, leading to failure of function of copper-dependent enzymes such as cytochrome c oxidase. The responsible gene maps to chromosome Xq12-q13. The main clinical features are failure to thrive with seizures in infancy, severe mental retardation, dysmorphism, ivory-white and brittle hair that feels like steel wool (pili torti), short stature, bony changes, poikilothermia, poor feeding, abnormal temperature control, and arterial tortuosity from the age of 2 months. Generalized seizures, cerebral atrophy, callosal dysgenesis, and demyelination accompany these features. The disorder leads eventually to decerebration and death within 2 years. It was first defined by Dr. Milton Alter4314 while he was a junior resident. In a variant form, chorea, athetosis, hypotonia, seizures, and psychomotor retardation are associated with low copper and ceruloplasmin levels, and intestinal copper absorption is reduced.2659 2. See branched-chain ketoaciduria.4315
neural tube closure occurring at any level of the neuraxis, leading to the exposure of both the meninges and the neural contents of the spinal canal to the outside. These represent the commonest physically disabling birth defects in humans. The relative roles of genetic and of environmental causes have not yet been determined. The condition is associated with severe motor and sensory deficits in the legs, and frequently with the Chiari malformation and resulting hydrocephalus. The presence of the disorder is suggested antenatally by
Menkes disease A Web site providing mental retardation A state of information and images at: http:// abnormal development manifested by themenkesfoundation.org. impaired intelligence and inadequate ability to learn. Nonspecific X-linked forms without other distinguishing neurological Menkes Support Group At eGroups A support group open to anyone features have been mapped to chromosome Xq11-q12 or Xp22. interested in making friends, sharing information, and providing support for mental retardation, aphasia, persons affected by Menkes syndrome. shuffling gait, adducted thumbs Web site: http://www.healthinforum.org/ Menkes-Support-Group-info-23006.html. See MASA syndrome.
meningoencephalocele (hernia cerebri) A developmental anomaly (a craniofacial malformation), characterized by the presence of a sessile or pedunculated swelling in the glabellar region, composed of glial tissue and fibrous tissue, protruding through a skull defect. Telecanthus and elongation of the nose are invariably present, and hydrocephalus due to atresia of the foramen of Monro, agenesis of the corpus callosum, cortical atrophy, seizures strabismus, and mental retardation are common accompaniments.4 meningoencephalomyelitis Inflammation of the meninges, brain tissue, and spinal cord.
meningoepithelial meningioma See meningioma.
meningomyelitis Inflammation of the meninges and of the underlying substance of the spinal cord.
menstrual migraine (pure) Attacks of migraine that occur on days 2 to þ3 of the menstrual cycle and at no other time. The headache is associated with increased circulating prostaglandin levels.473 A variant is menstrually associated [or related] migraine, in which the attacks occur at any time of the cycle but with increased frequency at period times. mental 1. (from Lat, the mind) Relating to the mind. 2. Relating to the chin.
mental coprolalia The unwanted intrusion of obscene words into the thoughts of patients with Tourette syndrome. Mental Health Inventory A 31-question multiple-choice self-assessment instrument designed to survey experience of anxiety, depression, behavior/emotional control, general positive affect, and emotional ties in response to life events experienced by the subject.6520
mental neuropathy Numbness of the chin, most commonly due to malignant infiltration of the mental nerve.4149
Merzbacher, Ludwig
617
mental retardation, diabetes mellitus, hypogonadism, and nerve deafness A rare recessive syndrome characterized by these features, in which pigmentary retinal degeneration has also been described.1810
mental retardation–epilepsy See cerebellar syndromes (congenital ataxias).
mercuric neuropathy A syndrome resembling amyotrophic lateral sclerosis or lead neuropathy resulting from the ingestion of organic mercury. Headache, loss of the teeth, tremor, weakness initially of the arms, wasting, fasciculations, hyperreflexia, and up-going plantar responses are found, and a blue line on the gum margins is noted in some patients.3290 See also Hatters shakes.
Meretoja syndrome Dominantly Mental Status Questionnaire inherited generalized amyloidosis with (MSQ) A widely used, formalized bedside lattice dystrophy of the cornea, progressive
screening test of cognitive function. Like the many others developed in the last quartercentury, it is brief (requiring only 5 min or so to put the 10 questions on orientation, memory, and general knowledge) to the patient; focuses on cognitive factors rather than on affect, thought-disorder or behavioral features; and is valid, reliable, and simple both to give and to score. However, it is rather insensitive.3270 See also Mini-Mental Status Examination.
cranial neuropathies, and late peripheral neuropathy.4321
the presence of ragged red fibers in muscle biopsy specimens.2232, 3780 In short, it presents as a typical progressive myoclonic encephalopathy with myoclonus, tonicclonic seizures, progressive ataxia, and dementia. Optic atrophy, Parkinsonism, deafness, pyramidal signs, peripheral neuropathy resembling HMSN, myopathy migraine, and hypoventilation are other inconstant features described. See also MELAS and mitochondrial myopathies.
Merritt, H. Houston (1902–1979)
A leading American neurologist who was educated at Chapel Hill and at Vanderbilt merged gyri A cortical dysplasia, and Johns Hopkins, then at the Boston City characterized by fusion of the gyral surfaces of Hospital and in Munich. His professional the brain; a forme fruste of polymicrogyria.471 life was spent first at Harvard (where with Tracy Putnam he was first to complete meridrosis Localized sweating. clinical studies of diphenylhydantoin in 1937),4325 and then in New York at Merkel, Karl Ludwig (1812–1876) Columbia University where he became professor and chairman of the Department of German anatomist. Neurology and established model mentation Use of the mind, or intellect. Departments of Neurology at Montefiore Merkel disks A form of sensory nerve and the New York Neurological Institute. ending, sensitive to touch. Menzel disease A dominantly He was also sometime dean of the medical inherited form of cerebellar ataxia causing merlin A molecule protective against the school and vice president for medical affairs. pyramidal, cerebellar, and posterior column excessive replication of cells; alterations in Merritt was an outstanding clinician, a dysfunction.1793, 4317 See superb teacher (his Textbook of Neurology went the neurofibromatosis-2 gene coding for olivopontocerebellar atrophy and through six editions before his death), and a merlin cause all of the benign tumors that autosomal dominant cerebellar ataxia. productive researcher, but he also was active occur in patients suffering from that on the boards of charitable organizations in condition, all spontaneous Schwannomas MEPP See miniature end-plate potentials. and most meningiomas.2726 the neurological field and of the National Institute of Neurological Diseases. As one of the most influential neurologists meralgia paresthetica (Gr, the mermaid syndrome See caudal in the United States, he promoted neurology thigh þ pain) (lateral femoral cutaneous regression syndrome. as an independent clinical discipline and neuralgia, Roth–Bernhardt disease, Bernhardt–Roth [Rot] paresthesia) meropia Partial dullness or obscuration fostered the organization of dedicated neurological training programs with a strong Paresthesias, hypoesthesias, numbness, and of vision. basic science component. His residency often pricking or burning pain in the distribution of the lateral cutaneous nerve of Merrill Palmer scales of mental program trained a remarkable proportion of those physicians who today are most the thigh, supposedly often caused by development A composite nonverbal influential in American neurology. Merritt compression of the nerve by a fat pad under test of perceptual and motor skills designed was also instrumental in the foundation of the lateral part of the inguinal ligament for children under the age of 5 years. the National Institute of Neurological and and most commonly seen in middle-aged 583, 5425 Communicative Disorders and Stroke and as a men. Lumbar plexus or L2, 3 lesions MERRF (Myoclonic Epilepsy with research worker himself, published over 200 can cause the same picture. A familial form Ragged Red Fibers, Fukuhara syndrome, papers, particularly on the topics of epilepsy, has been described.4143 leukoencephalopathy with ragged red fibers; syphilis, cerebrovascular disease, and Despite the usual eponyms, the condition OMIM 545000) A maternally transmitted nutritional disease. was first described by Remak. mitochondrial disorder with onset in infancy, childhood, or early adult life, Merwarth syndrome See Rolandic meranesthesia (Gr, part þ deprivative þ characterized by short stature, myoclonus, vein occlusion. feeling) Partial anesthesia. nerve deafness, generalized tonic–clonic seizures, ataxia, myopathy with ptosis and mental and developmental delay, with lactic Merzbacher, Ludwig (1875–1942) mercuric encephalopathy acidosis, spongiform encephalopathy, and German physician who trained in Strasbourg See pink disease and Minamata disease.
mesaticephalic and practiced mainly in Argentina. In 1910 he added to the 1885 description by Friedrich Pelizaeus of the syndrome now known by both of their names, having restudied members of the same family.
mesaticephalic Broca’s term for a skull with a cephalic index between 75 and 80. The significance of the shape is not known.
mesencephalic artery syndrome See top o’ the basilar syndrome. mesencephalitis and rhombencephalitis A syndrome of subacute progression, manifesting drowsiness; oculomotor, facial, and bulbar palsies; anarthria; and cerebellar ataxia without limb weakness. There may be mild pyrexia. The CSF contains increased numbers of mononuclear cells. Despite severe bulbar failure occurring at some time during the course of the disease, eventual recovery may be complete.621 See Bickerstaff brainstem encephalitis.
mesencephalon (Gr, the middle brain) (mesocephalon) That part of the brain derived from the middle cerebral vesicle and comprising the brainstem structures below the hypothalamus and above the pons. mesial temporal lobe epilepsy syndrome See temporal lobe epilepsy. mesial temporal sclerosis (Ammon’s horn sclerosis, hippocampal sclerosis, incisural sclerosis, and pararhinal sclerosis) Loss of nerve cells with gliosis in Sommer’s sector of the hippocampus, usually with additional abnormality elsewhere in the temporal lobe. After many years of uncertainty as to whether such changes were the cause or the effect of complex focal (partial) seizures, Falconer concluded that they signified prior anoxia due to repetitive seizures in infancy, were themselves epileptogenic, and were the commonest lesions found in tissue specimens removed after anterior temporal lobectomy for the management of drug-resistant epilepsy.1954, 1955 However, the issue remains unsettled and the seizures may in some cases at least be the result rather than the cause of the sclerosis.6513
mesiobasal limbic seizures See amygdalohippocampal seizures.
618
Mesmer, Franz Anton (1734–1815) and gliosis in the limbic system and also in Austrian physician and metaphysician who trained originally for the priesthood and then for law before changing to medicine, the subject in which he graduated from Vienna in 1765. He was earlier interested in the effect of the planets on the human body, which he considered similar to their effects on each other; this formed the subject of his dissertation and led to his proposition of the existence of animal magnetism (gravitas animalis), a mysterious fluid permeating all organic and inorganic substances. Mesmer considered that obstruction to the flow of this fluid was the basis of disease, and that such obstructions could be relieved by putting the patients into a trance and then inducing a convulsion. His ideas were rejected by orthodox physicians in Vienna and he left for Paris, in which city his success was phenomenal, thanks to adept stage management, the innocuous nature of the treatments, and the high prevalence of naı¨vete´ and ignorance at that time. By 1784, these had diminished enough to allow the creation of a commission of inquiry into the basis of Mesmer’s system, of which Benjamin Franklin, Antoine Lavoisier, and Dr. Armand Guillotin were members. Their conclusions that mesmeric fluid did not exist and that the effects of Mesmer’s treatments were but the result of imagination led to his departure from Paris and to his further demonstrations being given in a traveling format. Mesmer considered that he was dealing with physical rather than with mental forces. It was James Braid who introduced the term hypnotism for the trance-like state induced in his subjects by Mesmer, and who regarded this as a mental state of heightened suggestibility.
the mesencephalic dopaminergic fields, their terminal fields in the cortex and the caudate nuclei, substantia nigra, and inferior olive. Clinically, late-onset, slowly progressive personality changes; loss of memory, insight, judgment, and self-care skills; behavioral disturbances such as those in the Klu¨ver–Bucy syndrome; and sometimes Parkinsonism, all giving rise to features of subcortical dementia, are the most prominent features.6356, 6529
mesomelia and nephritis syndrome See Funderbunk syndrome. meta- Greek prefix, signifying ‘‘beyond.’’ metabasis The changing over from one thing to another—as suggested by its derivative metabolism. However, a change in the appearance of symptoms of disease is also an acceptable, if somewhat archaic, meaning.
metabolic craniopathy See Morel–Stewart–Morgagni syndrome.
metabolic headache See headache (headache associated with disorders of homeostasis). metabolic myopathy See lipid myopathies; carnitine deficiency, riboflavin responsive; acid maltase deficiency; glycogen storage disease; and myopathy. metabolic poliodystrophy Anterior horn cell disease due to chemical disorders, such as hypoglycemia or lead poisoning.
metabolic syndrome A group of
interrelated risk factors linked to insulin resistance (atherogenic dyslipidemia, abdominal obesity, raised blood pressure, raised serum glucose, and a prothrombotic mesoencephalothalamic state) that affect about a quarter of the adult syndrome Isolated bilateral internal and population and together increase a person’s external ophthalmoplegias with vertical gaze risk of cardiovascular disease. Leukoaraiosis paresis and abulia resulting from a vascular and intellectual decline are clinically lesion in thalamic and high brainstem associated. regions. This may occur as a lacunar syndrome.2092, 2106 See syndrome of the metachromasia A change in color. mesencephalic gray matter.
mesocephalon See mesencephalon.
metachromatic leukodystrophy mesolimbocortical dementia A rare, insidiously progressive dementing syndrome of unknown cause, characterized pathologically by nonspecific neuronal loss
(Greenfield disease, Scholtz syndrome, van Bogaert–Nijssen–Pfeiffer disease, sulfatide lipidosis; OMIM 250100) A group of recessively inherited lysosomal storage
methemoglobinemia
619
diseases caused by deficiency of leukocyte arylsulfatase A and leading to intralysosomal storage of cerebroside sulfate in the white matter of the CNS and peripheral nerves. The resulting demyelination causes a variety of neurological features including loss of cognitive function or behavioral abnormalities and neuromuscular weakness with impaired nerve conduction. The responsible gene maps to chromosome 22q13.13-qter or, when there is a lack of sphingolipid activator protein, to 10q21-q22. The usual presentation is of a slow progressive symmetrical and severe demyelination of the cerebral and cerebellar hemispheres occurring as a result of damage to oligodendroglia, and leading to axonal damage; pyramidal degeneration with isomorphic gliosis; and loss of myelin in the peripheral nerves with sparing of the
subcortical U-fibers. Sulfatide (a cerebroside sulfuric acid ester, which is a metachromatic material causing a brown stain in the presence of acidic cresyl violet) is deposited in white matter, nerves, neurons such as the anterior horn cells; in the dentate and other nuclei;2563 and in the liver, kidney, testes, and pituitary gland. CT scanning shows bilateral white matter lucencies in the cerebrum and cerebellum, with cortical atrophy. There are three types of arylsulfatase: A and B are lysosomal; C is microsomal. The A form is deficient in the late infantile, juvenile, and adult forms of metachromatic leukodystrophy. Some allelic types of the disease are recognized. Clinically the disease is heterogeneous, and different forms are classified according to the age at onset of symptoms (late infantile, juvenile, and adult) (Chart M–6).
metacognition The diverse processes of self-knowledge, self-monitoring, and selfregulation that contribute to adaptive behavior in complex and changing environments.1913 It is especially disturbed in the frontotemporal dementias. Such patients are unable to follow the dictum of the philosopher Michel de Montaigne; ‘‘Know thyself’’ so that they can neither monitor nor regulate their behavior. See also dysexecutive syndrome. metamorphopsia Distortion (alteration of size, shape, or angulation) of objects seen. When persistent, it is usually due to ocular disease or to bilateral occipital or occipitotemporal lesions. In some cases, the distortion affects only one or two quadrants of the visual field, making the environment appear grotesque.
metamorphosis The change in an Chart M–6. Allelic Forms of Metachromatic Leukodystrophy The late infantile form is commonest. Clinically, it presents at the age of 1–2 years with irritability, poor eating, gait disorder, floppy posture, loss of motor skills, optic atrophy, squint, and nystagmus. With further decline, spasticity takes over, despite evidence of a peripheral neuropathy, and seizures, myoclonus, cortical blindness, mental deterioration, decerebration, and opisthotonos lead on to death. In the juvenile form, the onset is between 3 and 16 years of age with gait disturbance and behavioral change. The neuropathy is less prominent, but mental changes, dystonia, and incontinence may be severe.2713 The adult form is rare; clinical features include insidious dementia, psychoses, optic atrophy, ataxia, pyramidal and extrapyramidal signs, and neuropathy with onset after the age of 16 years.6634 The neuropathy has been reported as occurring in isolation. Other variants include the following: Metachromatic leukodystrophy due to cerebroside sulfatase activator defect: A phenotype resembling the juvenile form, in which the enzyme activity is reduced but not absent.5760 The Austin variant (O Variant, multiple sulfatase deficiency): A recessively inherited mucosulfatidosis—a nonallelic variant. The features are similar to the late infantile variety, with progressive motor and intellectual deterioration, ichthyosis, and hepatosplenomegaly, progressing to blindness, deafness, decerebrate rigidity, and dementia; but the biochemistry resembles that of some of the gangliosidoses and mucopolysaccharidoses, with storage of gangliosides in the cortical neurons.302 Adult onset form of metachromatic leukodystrophy with nor-aryl sulfatase: A form characterized by the onset in adult life of dementia, ataxia, spasticity, orthostatic hypotension, diffuse demyelination, and low-density lesions in the white matter on CT scans. Metachromatic leukodystrophy with heterozygous compound allele (pseudodeficiency): A form characterized by the onset in infancy of gaze palsy, dysarthria, ataxia, spasticity, psychomotor arrest, cerebral atrophy, and diffuse gliosis and demyelination. The same apparent deficiency may also occur in healthy people. Metachromatic leukodystrophy with early juvenile onset: A form characterized by the onset in childhood of optic atrophy, seizures, ataxia, pyramidal and extrapyramidal signs, sensorimotor peripheral neuropathy, and dementia. Metachromatic leukodystrophy without arylsulfatase deficiency: A form characterized by dementia, pyramidal signs, hypertrophic demyelinating sensorimotor peripheral neuropathy, neurogenic bladder, and developmental delay. Metachromatic leukodystrophy with retinitis pigmentosa: A form characterized by the onset in infancy of pigmentary retinal degeneration, dysarthria, dysphagia, dystonia, ataxia, pyramidal signs, demyelinating sensorimotor peripheral neuropathy, diffuse demyelination with low-density lesions in the white matter on CT scanning, and mental and developmental delay.
object from one form or structure to another.
metaphyseal dysplasia A craniotubular dysplasia with cranial bone sclerosis, associated sometimes with muscle weakness, scoliosis, or optic atrophy.6250 See Pyle disease.
metastatic Shifting of disease from one place in the body to another. metencephalon That part of the brain derived from the posterior part of the third cerebral vesicle during embryonic development and comprising the medulla oblongata, the VIII cranial nerve and the fourth ventricle. methacholine test Instillation of one drop of 2.5% methacholine into the conjunctival sac normally has no effect, but produces miosis within 15 min, lasting for up to 2 h, in states of parasympathetic denervation with denervation hypersensitivity, as with the Adie pupil. See also pilocarpine test.
methemoglobinemia (recessive hereditary methemaglobinemia) An inborn error of metabolism. The type II recessive form is due to deficiency of generalized NADHcytochrome b5 reductase and results in mild cyanosis but severe neurological impairment— severe encephalopathy, microcephaly, generalized dystonia, and other movement disorders, with early death. Never do the children either speak or walk.1934
methionine malabsorption syndrome
methionine malabsorption syndrome See oasthouse disease.
methylmercuric encephalopathy
methioninemic myopathy A rare
metopic (Gr, between the eyes) Relating
inborn metabolic error manifest in infants by high circulating levels of methionine; it presents as a proximal myopathic syndrome with hyporeflexia and mental retardation.2319
methyl crotonyl-coenzyme A-carboxylase deficiency A congenital metabolic disorder characterized by neonatal seizures, hypotonia, spinal muscular atrophy, alopecia, patchy skin abnormalities, neurodegenerative regression, and organic aciduria with metabolic acidosis.381
See Minamata disease.
to the forehead. An antique term for the frontal bone. A metopic suture is a persistent sagittal suture between the right and left sides of the frontal bone.
metopion (Gr, the forehead) An alternative term for the glabella or interorbital region. metrizamide encephalopathy
A syndrome of asterixis, sometimes with generalized seizures and with severe stuttering speech, occurring as a toxic manifestation of metrizamide myelography. It is considered that impaired brain glucose metabolism may be responsible for some of 5-10 methylenetetrahydrofolate these effects. reductase deficiency A rare inherited Metrizamide is a nonionic contrast agent error in the pathway for synthesis of derived from glucose and metrazoic acid, methionine, presenting as an infantile widely used for imaging of the CSF dysmorphic syndrome of pyramidal signs spaces.592 with spasticity, cognitive deterioration, myoclonic seizures, microcephaly, sensory mevalonate kinase deficiency ataxia, rigidity, tremor, motor neuropathy, A disorder due to mutations in the neurogenic bladder, cerebral atrophy, and mevalonate kinase gene, associated with the diffuse cerebral demyelination with following two phenotypes: 1. HyperIgD and 6598 aminoaciduria. periodic fever syndrome, an autoinflammatory disease characterized by lifelong recurrent 3-methylglutaconic aciduria episodes of fever, abdominal distress, A rare, congenital, dominantly inherited lymphadenopathy, and skin rash starting in syndrome characterized by chorea, truncal infancy. 2. Mevalonic aciduria, also starting in and limb ataxia, optic atrophy, retinal infancy but manifesting psychomotor aplasia, sensorineural deafness, severe retardation, failure to thrive, dysmorphisms, hypotonia giving way to spasticity by the age cataracts, and ataxia.5846 of 6 years, and mild mental retardation, with excessive excretion of 3-methylglutaconic Meyer, Adolf (1866–1950) Swissacid (MGA) in the urine. The clinical American neurologist and psychiatrist born features closely resemble those of Behr in Zurich, who became professor of syndrome. psychiatry at Cornell after emigration and Three syndromes are differentiated later went to Johns Hopkins. Although according to the amounts of MGA excreted, outstanding as a psychiatrist, his early in which the same features, and also neurological and pathological studies led to macrocephaly, seizures, pigmentary retinal his identification of the following degeneration, and cataracts, are seen in anatomical fact. 1293 varying combinations.
Meyer loop (Fleschig loop) The methylmalonic acidemia A group
lowermost fibers of the geniculocalcarine (optic) radiation, which pass through the of rare congenital inborn metabolic errors, temporal lobe and loop around the tip of the usually manifesting neonatal seizures, temporal horn on their way to the calcarine dystonias, feeding problems, apneic attacks, cortex. These carry impulses from the and mental and developmental delay, but inferior nasal quadrant of the retina, and thus occasionally with minor signs only. Organic aciduria, hyperammonemia, and raised plasma lesions of the temporal lobe may produce a superior quadrantanopia.1219 lactate levels are characteristically found.3534
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Meyer phenomenon Mydriasis in response to abdominal pressure, described in psychiatric patients. For a sign so trite the word phenomenon seems overstated; perhaps happening would be more appropriate? Meyer–Betz disease Paroxysmal myoglobinuria, unassociated with other evidence of muscle disease, but occurring after heavy exertion or during infections, with associated muscle pain and swelling. The myoglobinuria can lead to renal impairment.3532, 4344 Meynert, Theodor Hermann (1833–1892) German professor of psychiatry and later of neurology in Vienna, where he combined neurological science with psychiatric research, convinced that diseases of the mind must reflect disease of its substrate, the brain. His anatomical studies revealed the central projections of the sensory fields onto the cortex, the functional topography of which he mapped out, differentiating between the association fields and the primary receptive areas. He also studied the morphology of the brainstem in detail.
Meynert amentia An acute confusional psychosis. See Wernicke– Korsakoff encephalopathy.
Meynert decussation The decussation of the dorsal tegmental tract. Meynert fasciculus (habenulopeduncular tract) A small bundle passing from the habenula of the thalamus to the interpeduncular region, described by Meynert in 1867.
MGUS See monoclonal gammopathy of uncertain significance. Michael J. Fox Foundation for Parkinson’s Research A charitable organization in this field. Address: Grand Central Station, P.O. Box 4777, New York, NY 10163. Tel: 212-213-3525. Web site: http://www.michaeljfox.org/.
Michel defect A developmental defect comprising the absence of the otic capsule and the VIII cranial nerve.
621
microcephaly with basal ganglion calcification
Michel syndrome (clefting with
micro syndrome Microphthalmia and described. In such cases, the cerebrum is small and contains evidence of multiple cerebellar and callosal hypoplasia, usually neuronal migration defects, but the with X-linked inheritance.4944 cerebellum is usually of normal size. Sporadic cases are also common.4244 microadenoma A functioning In primary microcephaly, anomalies of adenoma within the pituitary gland which induction and migration have occurred has caused no detectable expansion of the gland by virtue of its size, arbitrarily defined during the first 7 months of intrauterine life; in the secondary form, the reduction in brain as less than 10 mm in diameter. size is due to infectious, traumatic, metabolic, or anoxic lesions incurred in the Michigan Diabetic Neuropathy microaneurysm 1. (lipohyalinotic last 2 months of gestation or in the perinatal Score A protocol used to evaluate aneurysm) Focal bulging of the wall of an period.4313 peripheral neuropathy in diabetic patients. It arteriole damaged by lipohyalinosis and A classification of the congenital is based both upon clinical examination arteriolosclerosis with an increase in the microcephalies has been suggested.404 (sensory: vibration in great toe touch with diameter of the vessel’s lumen. This is seen 10 g filament, pin prick to great toe); mainly in the putamen, caudate, and 1. Microcephaly with normal to thin cortex (muscle strength; finger spread, great toe thalamus, and to a lesser extent in the a. Primary microcephaly (microcephaly extension, ankle dorsiflexion); (reflex cerebral cortex. 2. (saccular miliary vera) testing; biceps and triceps brachii, aneurysm) Focal bulging of the wall of an b. Extreme microcephaly with quadriceps, ankle jerk) and median, ulnar, arteriole, its new wall being composed of simplified gyral pattern and sural sensory and median and peroneal fibrin thrombus and organized red blood 2. Microlissencephaly (MLIS: extreme motor nerve conduction studies.1994 cells resulting from prior bleeding from the microcephaly with thick cortex) arteriole. Charcot–Bouchard aneurysms are a. MLIS with thick cortex considered to include both of these forms. Mickey Illness Severity Score A (Norman–Roberts syndrome) weighting system providing an overall score b. MLIS with thick cortex, severe of functional disability in patients with microangiopathic brainstem, and cerebellar hypoplasia multiple sclerosis, based upon Kurtzke’s encephalopathy and hearing (Barth MLIS syndrome) functional systems score and his disability loss A syndrome with onset in young adult c. MLIS with intermediate cortex, 4351 status scale. life, characterized by sensorineural deafness, abrupt AP gradient d. MLIS with mild-to-moderate cortex vascular abnormalities of the retina, dysarthria, Mickey Mouse sign The appearance dementia, aggressive behavior, cerebellar whose thickness is 6–8 mm. on the MRI scan of atrophy of the mid-brain ataxia, and spasticity. See RED-M syndrome. 3. Microcephaly with polymicrogyria or tegmentum as seen on axial views in other cortical dysplasias 5648 progressive supranuclear palsy. microcephalic primordial ocular anomalies) A congenital dysmorphic syndrome characterized by sensorineural deafness, telecanthus, hypertelorism, iris adhesions, corneal opacities, strabismus, impairment of upward gaze, ptosis, blepharophimosis, epicanthic folds, cleft upper lip and palate, and mental and developmental delay.4
micrencephaly Reduction in brain
dwarfism A congenital dysmorphic
syndrome characterized by low birthweight, dwarfism with short (or absent) limbs and metacarpal bones, alopecia, beaked nose, micrognathia, short neck, rhizomelia of the upper limbs, dislocation of the elbows and hips, Perthes disease, delayed skeletal maturation, hyperkeratosis, microcephaly due to early closure of the fontanelles, and micro- Greek prefix signifying smallness. mental and developmental delay.381
weight to a value less than a figure 2 standard deviations below the mean for a given age, with any size of cranium. Broca considered that brain weights below 1049 g in males and below 907 g in females were abnormal. Microcephaly is also commonly present.
microbleeds Small, homogeneous, round foci of low signal intensity seen on MRI gradient echo (GRE) sequences, due to hemosiderin deposition. If deep they are closely correlated with the presence of hypertension and are possible markers for microangiopathy;1283 when lobar, they are associated with cerebral amyloid angiopathy.
microcephaly A reduction in the
circumference of the head, the occipitofrontal circumference measuring less than 2 standard deviations below the mean for the person’s gestational age, sex, and race. This may be due to failure of development of the underlying brain or of the skull bones themselves during the first 4 months of gestation, or may result from premature fusion of the cranial sutures. The result is usually severe psychomotor delay. micro border-zone infarct The In familial cases, recessive, dominant, and distribution of lesions occurring after arterial X-linked inheritance have all been occlusion.
a. Extreme microcephaly with diffuse or asymmetric polymicrogyria b. Extreme microcephaly with agenesis of the corpus callosum and cortical dysplasia.
From Barkovich AJ, Kuzniecky R, Jackson GG, et al. Classification system for malformations of cortical development. Neurology 2001;57:2168–78. Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
Variant forms are listed in Chart M–7. See also COFS and the syndromes of Aicardi, Cockayne, Coffin and Siris, de Lange, dysencephalia splanchnocystica, Dubowitz, Hallermann–Streiff–Francois, Meckel, Pen–Shokeir phenotypes, Rett, Rubinstein and Taybi, Seckel, and Smith, Lemli, and Opitz.
microcephaly with basal ganglion calcification See Aicardi–Goutie`res syndrome.
microcephaly–absent phalanges–short stature–retardation syndrome Chart M–7. Variant Forms of Microcephaly Microcephaly and chorioretinal dysplasia: A dominantly inherited anomaly characterized by microphthalmia, dysplasia of the optic nerve and retina, detached retina, pigmentary retinopathy with blindness, strabismus, early closure of the fontanelles, microcephaly, and psychomotor retardation.6252 Microcephaly-chorioretinopathy: A recessively inherited syndrome of dwarfism, microphthalmia, optic atrophy, aplasia or dysplasia of the retina, pigmentary retinopathy, microcephaly, and cutis marmorata.999 Microcephaly, motor neuron disease, and nigral degeneration: A congenital dysmorphic syndrome characterized by the onset in early childhood of dysarthria, dementia, microcephaly, tremor at rest, dystonias, fasciculations, neurogenic muscle atrophy, and cerebral atrophy.381 Multiple epiphyseal dysplasia–microcephaly–nystagmus: A congenital syndrome characterized by short stature, small pelvis, epiphyseal dysplasia, microcephaly, nystagmus, and mental and developmental delay.3940 Microcephaly with spasticity and seizures: A congenital dysmorphic syndrome characterized by tonic–clonic and myoclonic seizures, microcephaly, spasticity, and cerebral atrophy.937 See Paine syndrome. In other variant forms, lymphedema, retinopathy, cervical spine anomalies, intracranial calcification and/or pyramidal signs are associated. These and a summary of syndromes in which microcephaly also occurs are reviewed by Baraitser.379
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microgliomatosis See microglioma. microglossia Smallness of the tongue, congenital or acquired.
micrognathia Congenital smallness of the jaw.
micrographia Smallness of the handwriting; a classic sign in Parkinsonism.
microgyria (hemiatrophy of the brain) A developmental abnormality of prenatal origin, characterized by a decrease in the cell population of the middle cerebral cortical layer leading to decreased width and therefore an increased number of cerebral cortical gyri focally. It is sometimes combined with macrogyria. Such laminar destruction of the middle layer only is considered evidence of an acquired injury object. They are of no known pathological microcephaly–absent rather than of a neuronal migration defect.3 significance. phalanges–short stature– Clinically, seizures and a degree of retardation syndrome See Drayer mental impairment are commonly microdysgenesis Disturbances of focal present.5904, 5909 syndrome. cortical architecture from the presence of nests of ectopic neurons and glia in the first microcephaly-albinism-limb micromelia Small limbs. layer of the cerebral cortex. This is often defects See Castro–Gago syndrome. associated with focal dysplasia of adjacent microneurography The technique of cortical layers, including focal microgyria, microcephaly–syndactyly recording peripheral nerve action potentials and with superficial excrescences known as in humans by means of intraneural syndrome See Filippi syndrome. brain warts representing abnormalities of electrodes. cortical development. Clinically, the abnormality may either be asymptomatic or microcompression An operative associated with dyslexia or seizures3343 micropapilla See optic nerve technique in which a small balloon is hypoplasia. inflated in a position where it will compress (cortical dysplasias). Variable usage of the term, however, has led to its abandonment. a nerve, such as the trigeminal nerve in Meckel’s cave in cases of trigeminal neuralgia microphthalmia A congenital ocular microflutter See ocular flutter and resistant to medical treatment. malformation in which the presence of some microsaccadic flutter. ocular development can be determined by clinical means. Microcephaly and other brain microcoria A synonym for miosis. microglia (Gr, small þ glue) The smaller malformations are occasionally associated. supporting neuroglial cells in the CNS; See Walker–Warburg, Meckel, and microdeletion syndromes interstitial cells of mesoblastic origin Inherited conditions caused by the deletion representing the reticuloendothelial system Neu-Laxova syndrome. of small segments of chromosomes at a in the CNS, having both the morphology micropsia The illusion of reduction in variable number of contiguous loci. and staining characteristics of macrophages. the size of objects seen, as in some forms of They were first described by Rio Hortega in complex partial seizure. microdiskectomy Microsurgical 1921. See primary CNS lymphoma. excision of prolapsed intervertebral disks, of microsaccades Small-amplitude, value in patients with segmental signs who microglial stars Clusters of activated rapid saccadic oscillations of the eyes have not responded to conservative microglia around damaged or dead neurons. contributing to ocular ‘‘noise’’ in normal treatment, including chemonucleolysis, and subjects and suppressed during the in those with osseous spinal stenosis. microglioma (microgliomatosis, 3762 reticulum cell sarcoma) A form of reticulosis performance of close work. affecting the brain and producing clinical microdrift Dysconjugate slow eye signs of a fast-advancing intracranial movements of less than 1 degree in microsaccadic flicks See tumor.5473 See primary CNS lymphoma. amplitude, occurring during fixation of an microsaccadic flutter.
middle finger test
623
microsaccadic flutter (microflutter, microsaccadic flicks) The rare phenomenon of conjugate saccadic horizontal ocular oscillations at 15–30 Hz, invisible to the naked eye and inconsistently associated with neurological disease, although considered to reflect abnormal function of the brainstem omnipause neurons.266 The perplexed lexicographer notes the high validity but the slight importance of this phenomenon but recalls with relief: A symbol said ‘‘I represent The meaning someone else has meant. I personally have no leanings Toward any of the many meanings.’’ micro-saccadic oscillations and limb tremor A familial disorder manifest by tiny saccadic oscillations of the eyes and tremor of the hands.
microscopic polyangiitis (overlap syndrome) A vasculitis affecting arterioles, capillaries, and venules with skin manifestations and frequently with neuropathy.5582 microsleeps Brief periods in which the EEG activity is that of stage 1 or 2 nonrapid eye movement sleep activity but lasting less than 10 s, interrupting wakefulness and impairing sustained attention. They occur in normal people after sleep deprivation and may be associated with excessive daytime sleepiness and with automatic behavior.280
microtremor Dysconjugate, low amplitude, high-frequency ocular vibrations, of no known pathological significance except in the case of a rare familial disease of saccadic oscillations and limb tremor.5751
midbrain corectopia A shift in the geometric center of a pupil, which becomes oval, in association with disease of the brainstem.
midbrain deafness Total deafness as a
result of degeneration of the lateral lemnisci and inferior colliculi, described following a 3011 axes, leading to a manifest deviation so small head injury. that the alternate cover test fails to reveal it. midbrain infarction Localized A degree of diplopia may result.2400 posterior circulation infarctions, usually in microtubules Cytoskeletal structures the territories of paramedian branches of the basilar artery supplying the midbrain and within axons synthesized within the cell presenting with overt eye movement body, consisting of polymerized dimers of disorders such as those due to oculomotor tubulin protein forming a hollow tube, nerve palsies, vertical gaze palsies, pure about 20 nm in diameter and 1 mm long. motor hemiparesis, and/or four-limb ataxia They are longitudinally oriented and are but with few other localizing findings. linked by cross-bridges to neurofilaments, and move centrifugally within the axoplasm Infarcts in the territories of the mesencephalic branches of the posterior at up to 3 mm/day. cerebral artery and of the superior cerebellar artery are distinctly less common.708
microtropia Divergence of the ocular
microvasculitic neuropathy
Neuropathy due to a small vessel disease, as with hematological malignancies and rarely as a paraneoplastic manifestation, usually with B-cell lymphomas.
miction (from Lat, to pass water) The act of passing water. The word is hardly used now, but it appears to be the better derivation to describe normal urinary functioning.
midbrain ‘‘myasthenia’’ The occurrence of some ocular signs of myasthenia (fatigable ptosis, lid twitch, ophthalmoparesis) as a result of a midbrain tumor.5168 midbrain pseudo-sixth Impairment of ocular abduction as a result of convergence spasm without any lesion of the VI cranial nerve.1007
midbrain tremor (cerebellar outflow micturition (Lat, a desire to pass water) tremor, red and black tremor) A
1. A constant inclination to urinate. 2. The predominantly unilateral tremor at 1.5–3 Hz, act of passing water—the modern, but involving both proximal and distal muscles, microsomia Smallness of the whole slightly incorrect meaning. See also miction. present at rest but successively increased by body—head, trunk, and limbs. maintenance of a posture and by volitional micturition syncope Syncope which movement. Occasional large-amplitude MICROSTROKE A computer-based occurs during or after voiding, usually in the tremor bursts may induce a quasi-myoclonic system designed to use the clinical features of case of elderly men who rise from their beds component.2052 See rubral tremor. a patient’s case to diagnose the type of stroke at night for this purpose, and thus are at risk suffered.5995 See also TOPOSCOUT. by virtue of attaining the upright posture midcervical central cord when peripherally vasodilated, and also syndrome Numbness of the fingertips because of the Valsalva maneuver required to and clumsiness of the hands with tightness microsurgery Surgical procedures 1225 utilizing the operating microscope and small overcome the effects of prostatism. felt at midthoracic levels resulting from instruments for meticulous operations midline cervical disk protrusions at C3–4.4583 within a confined space. Microvascular MIDAS (Migraine Disability Assessment decompression of the V cranial nerve in the Scale) A tool for the evaluation of the effects middle cranial fossa syndrome cerebellopontine angle for relief of of headaches upon those that suffer from See Raeder paratrigeminal syndrome. trigeminal neuralgia is an example. them. A pediatric version is also available. Web site: http://www.migraine-disability. middle finger test The patient net/home.asp/. extends his elbow, wrist, and middle finger microtia Small ears. A sporadic See also Headache Impact Test. and holds them against resistance. Increase of congenital syndrome of middle ear pain in the region of the lateral part of the anomalies, ear atresia, and conductive elbow indicates pressure on the posterior hearing loss.3 midbrain The mesencephalon.
midfacial hypoplasia interosseous nerve, as with compression underneath the arcade of Frohse.3871
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midline splitting The precise change
from abnormal to normal sensation across the midline of the trunk. While this is usually considered to be evidence of a midfacial hypoplasia Dominantly functional disorder, it has also been inherited or sporadic malformations reported in patients following a thalamic (dysmorphisms) occurring in holoproscencephaly, or in Apert or Crouzon stroke.6074 syndromes, characterized by maldevelopment of the parts derived from midwinter insomnia A seasonal form the frontonasal process. Deafness and facial of the delayed sleep phase syndrome dysmorphisms (hypotelorism, flattening of encountered in the ‘‘Land of the Midnight the nose, cebocephaly, ethmocephaly, Sun.’’3859 cyclopia, an indistinct philtrum, palatal deformity, mandibular hypoplasia, Mietens syndrome A recessively malformations of the temporomandibular inherited congenital dysmorphic syndrome joints and tongue, fusion of the jaws, and manifesting also strabismus, corneal other anomalies of the cranial bones) may be clouding, horizontal and rotary nystagmus, associated. short limbs with flexion contractures, and mental retardation.4354 midlatency SEP That portion of the waveforms of a somatosensory evoked migraine (from Gr, half þ skull, through potential normally occurring within 25– Lat, hemicrania to Fr, migraine) A familial 100 ms after stimulation of a nerve at the wrist, within 40–100 ms after stimulation of systemic syndrome encompassing various a nerve at the knee, and within 50–100 ms forms of head pain or evidence of focal disturbance of the nervous system. The after stimulation of a nerve at the ankle. condition was known to Hippocrates, (Adapted from the 1987 Report of the Nomenclature Committee of the American Celsus, Arateus, and Galen, but the first modern account was that of Thomas Willis Association of Electromyography and Electrodiagnosis. AAEE glossary of terms in and a more formal description was provided by John Fothergill in a pamphlet ‘‘Remarks on clinical electromyography. Muscle Nerve that complaint commonly known under the name 1987;10S:G5–G23. 1987. Reproduced 4502 The by kind permission of the AANEM and John of sick headach’’ published in 1777. history of the development of thought in the Wiley and Sons Inc.) area has been recounted by Pearce,4948 who midline fusion defect syndrome quotes Liveing’s definition of 1873: ‘‘A form of centrencephalic seizure, the activity of See Wolf–Hirschorn syndrome. which is projected rostrally upon the cerebral hemispheres and peripherally via the midline hyperplasia with autonomic nervous system,’’ and notes that malformation of the fornical we are little wiser now. system A congenital dysmorphic The classification of the International syndrome characterized by meningocele, Headache Society,2820 is reproduced in hydrocephalus, and cerebellar atrophy. Chart M–8. Definitions or descriptions of the various subtypes reproduced midline nevus flammeus with elsewhere in this book are as shown in intracranial vascular disease See bold below. Sturge–Weber syndrome. Our knowledge of the pathophysiology of migraine has advanced since the second edition of this book, though not far enough midline spikes An encephalographic finding during interictal periods, consisting to allow confident mapping of the whole underlying chain of events. Cortical of the appearance of spikes with maximal hyperexcitability, evidenced by laboratory amplitude at the Fz, Pz, and Cz positions, techniques and by the persistence of the with phase reversals in the waking or after-image following fundoscopy1519 and sleeping states. They correlate well with the presence of various forms of epilepsy, the activity of a brain-stem generator of including generalized tonic–clonic and impulses activating the trigemino-vascular focal motor seizures and less commonly complex and thus leading to the liberation of myoclonic or atonic attacks.1818 vasoactive peptides in the extra- and
Chart M–8. Classification of Migraine 1. Migraine 1.1 Migraine without aura 1.2 Migraine with aura 1.2.1 Typical aura with migraine headache 1.2.2 Typical aura with nonmigraine headache 1.2.3 Typical aura without headache 1.2.4 Familial hemiplegic migraine 1.2.5 Sporadic hemiplegic migraine 1.2.6 Basilar-type migraine 1.3 Childhood periodic syndromes that are commonly precursors of migraine 1.3.1 Cyclical vomiting 1.3.2 Abdominal migraine 1.3.3 Benign paroxysmal vertigo of childhood 1.4 Retinal migraine 1.5 Complications of migraine 1.5.1 Chronic migraine 1.5.2 Status migrainosus 1.5.3 Persistent aura without infarction 1.5.4 Migrainous infarction 1.5.5 Migraine-triggered seizure 1.6 Probable migraine 1.6.1 Probable migraine without aura 1.6.2 Probable migraine with aura 1.6.5 Probable chronic migraine
intracranial arterial walls, in turn causing progressive pain perception through other brainstem mechanisms appear to be the major elements of the process.
migraine accompagne´e See migrainous accompaniments.
migraine accompaniments (migraine accompagne´e) Transient and reversible neurological deficits occurring in the absence of a current headache and of any other detectable cause, supposed to be occurring on the same basis as the rest of the migrainous syndrome, whatever that may be. Not all patients who have such problems have migraine headaches as well. Clinically, scintillating scotomas, blindness, blurred vision, numbness, paresthesias, aphasia, dysarthria, and motor weakness are the commoner symptoms. Clues to the migrainous nature of the syndrome are A. The presence of visual symptoms B. A gradual build-up and migration of any scintillating display C. A march of paresthesias D. The serial progression of symptoms
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migraine with interparoxysmal headache
migraine with aura (classic migraine, classical migraine, ophthalmic migraine, hemiparesthetic migraine, hemiplegic migraine, aphasic migraine, migraine accompangnee´, complicated migraine) An migraine coma (meningitic migraine) idiopathic, recurring disorder manifesting with attacks of neurological symptoms A repetitively occurring, self-limited, generalized encephalopathy with delirium, unequivocally localizable to the cerebral cortex rarely reported in patients with prior classic or brainstem, usually gradually developed over 5–20 min and usually lasting less than 60 min. or familial migraine, but sometimes Headache, nausea, and/or photophobia following head trauma.1281 The attacks are usually follow neurological aura symptoms preceded by severe headache and vomiting and lead through clouding of consciousness directly or after a free interval of less than an hour. The headache usually lasts 4–72 h but to pyramidal signs, often accompanied by fever and further reduction in consciousness, may be completely absent. This definition and the following diagnostic criteria are with recovery in about 2 days. Despite the migraine angiitis See reversible suggested by the Headache Classification alternative title the CSF is usually normal, cerebral vasoconstriction syndrome. Committee of the International Headache although pleocytosis may occur some days Society (Chart M–9). See also migraine after admission. migraine-anxiety related without aura. dizziness (MARD) The concurrence of A variant is migraine with aura, flushing migraine complications See migraine, balance disorder, and anxiety, spells, myalgias, asthma, and advanced sleep chronic migraine, status migrainosus, suggested as occurring with more than phase syndrome. persistent aura without infarction, chance frequency.2242 migrainous infarction, and migrainemigraine with interparoxysmal migraine-associated vertigo See triggered seizure. headache A condition in which migrainous vertigo. migraine equivalents See migraine occasional but increasingly frequent episodes aura without headache. of migraine headache are separated by migraine aura A recurrent disorder periods during which further headaches manifesting in attacks of reversible focal Migraine Foundation A Canadian occur, similar to but not identical with the neurologic symptoms that usually develop charitable association. Web site: http://www. patient’s usual migraine and which occur gradually over 5–20 min and last for less migraine.ca/. daily and chronically. The condition has than 60 min. been considered a ‘‘transformational syndrome’’ between migraine and chronic migraine aura status Frequent but migraine madness Psychosis occurring in temporal association with daily headache.5546 See rebound headache. separate auras over a prolonged period of migraine in subjects known to have that time (at least two auras per day for 5 condition in the past without such mental consecutive days). abnormality. The state may last days or weeks Chart M–9. Diagnostic Criteria for and recur over many years. Delusions, both Migraine with Aura migraine aura without paranoid and other, visual hallucinations, headache (migraine equivalents, migraine with aura (classic or classical acephalgic migraine) A condition diagnosed reduplicative paramnesia and speech migraine, ophthalmic, hemiparesthetic, disturbances are described. Migraine-induced when focal neurological symptoms come on hemiplegic or aphasic migraine) A recurrent ischemia of the nondominant hemisphere is disorder manifesting in attacks of reversible gradually and spread or intensify over a 2239 See also period of minutes; positive visual symptoms considered to be responsible. focal neurological symptoms that usually develop gradually over 5–20 min and lasts occur classically as in migraine; headache is dysphrenic migraine. for less than 60 min; and headache with the absent or mild if present; and the patient has features of migraine without aura. The head not had similar symptoms previously in the migraine stroke See migrainous pain usually follows the aura. context of classical migraine or in association infarction. with a more severe headache.1582 For the A. At least two attacks fulfilling criterion B migraine-triggered seizure A ICHD criteria, see aura. B. Migraine aura fulfilling criteria B and C for one of the subforms 1.2.1–1.2.6 seizure triggered by a migraine aura. E. The occurrence of two or more identical spells F. Accompanying headache G. A duration of 15–25 min F. The occurrence of a flurry of accompaniments I. Recurrence of similar spells over a period of years J. The exclusion of cerebral thrombosis, subclavian steal, epilepsy, thrombocythemia, polycythemia, hyperviscosity, and lupus anticoagulant; and K. Normal cerebral arteriographic findings.2095
and vomiting; incapacitation leading to bed, etc., with migraine; and with eye redness and tearing; Horner syndrome; rhinorrhea; and physical mobility with cluster headache).5947
migraine–cluster headache syndrome The occurrence of headaches
migraine with acute-onset aura
which are predominantly of one of these types, but with at least one major timing factor (random vs. clustering, frequency, duration, hour of onset) or three other major features of the other (prodrome; aura; nausea
The full development of an attack of migraine with aura in less than 5 min in Which a thromboembolic transient ischemic attack and other intracranial lesions are ruled out by appropriate investigations.
C. Not attributed to another disorder From the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society; Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.
migraine with prolonged aura
626
migraine with prolonged aura Migraine with one or more aura symptoms lasting more than 60 min and less than a week. Neuroimaging findings are normal. According to the International Classification of Headache Disorders, the diagnostic criteria are that the syndrome fulfils criteria for (migraine with aura, as above) but at least one symptom lasts between 60 min and 7 days. If neuroimaging reveals a relevant ischemic lesion, migrainous infarction should be diagnosed, regardless of symptom duration.
migraine with typical aura
Chart M–10. Diagnostic Criteria for Migraine without Aura migraine without aura (common migraine, hemicrania simplex) A recurrent headache disorder manifested by attacks lasting 4–72 h. Typical characteristics of the headache are unilateral location, pulsating quality, moderate or severe intensity, aggravation by routine physical activity and association with nausea and/or photophobia and phonophobia. Diagnostic criteria have been defined as follows: A. At least five attacks fulfilling criteria B–D B. Headache attacks lasting 4–72 h (untreated or unsuccessfully treated) C. Headache has at least two of the following characteristics: 1. 2. 3. 4.
unilateral location pulsating quality moderate or severe pain intensity aggravation by or causing avoidance of routine physical activity (e.g., walking or climbing stairs)
(ophthalmic, hemiparesthetic-, hemiparetic-, hemiplegic-, or aphasic migraine, migraine accompagne´e) Migraine with an aura consisting of homonymous visual disturbances, hemisensory symptoms, hemiparesis or dysphasia or combinations thereof. Gradual development, duration under 1 h and complete reversibility characterize the aura which is associated with headache.
From the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.
migraine with unilateral motor symptoms A sporadic form of migraine
migrainous dysautonomia
D. During headache at least one of the following: 1. nausea and/or vomiting 2. photophobia and phonophobia E. Not attributed to another disorder
in which patients complain of weakness on one Autonomic disturbances resulting in labile hypertension and sometimes alternating side (usually the same side as the headache) with postural hypotension with tachycardia, with a ‘‘give-way’’ character. Such weakness reported in peri-menopausal women during may be accompanied by sensory symptoms and tends to ‘‘march’’ up the limbs. It is also acute headache episodes. often present between attacks. The face is migrainous infarction (complicated seldom involved. Other symptoms include 6934 migraine; migraine stroke) The condition language disturbances and dizziness. in which one or more migrainous aura See also familial hemiplegic migraine. symptoms are associated with relevant ischemic lesions as demonstrated on migraine without aura (common neuroimaging studies. Compare persistent migraine, hemicrania simplex) An aura without infarction (aura symptoms idiopathic, recurring headache disorder manifesting in attacks lasting 4–72 h. Typical persisting for more than 1 week without radiographic evidence of infarction). characteristics of headache are unilateral A combination of (possibly migraine location, pulsating quality, moderate or attack-related) hypoperfusion and embolism severe intensity, aggravation by routine physical activity, and association with nausea, is the likeliest mechanism rather than3571, 714 atherosclerosis or small-vessel disease. photophobia, and phonophobia. This definition and the diagnostic criteria in Chart The occipital lobe is most commonly affected, producing a homymous field loss. Diagnostic M–10 are suggested by the Headache Classification Committee of the International criteria have been defined as follows: Headache Society. A. The present attack in a patient with A variant is familial migraine with vertigo migraine with aura is typical of previous attacks except that one or more aura and essential tremor.356
migrainous disorder not fulfilling criteria are those headache attacks that are
symptoms persists for >60 min B. Neuroimaging demonstrates ischemic infarction in a relevant area C. Not attributed to another disorder.
believed to be a form of migraine, but which do not quite meet the operational diagnostic From the International Classification of Headache criteria for any of the forms of migraine (nor Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia of tension-type headaches).
2004;24(Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.
migrainous neuralgia See cluster headaches.
migrainous vasospasm (crash migraine) See reversible cerebral vasoconstriction syndrome.
migrainous vertigo A common cause of episodic vertigo in migrainous subjects who present with attacks of spontaneous or positional vertigo lasting seconds to days with nystagmus and imbalance but without hearing loss. It can present both as a central and as a peripheral vestibular disorder.6565 The occurrences of the headache and the vertigo are not necessarily at the same time. Diagnostic criteria have been suggested;4633, 972 and also by the IHS. 1. Recurrent vestibular symptoms (rotatory/ positional vertigo, other or illusory self or object motion, head motion intolerance) of at least moderate severity. 2. Migraine according to IHS criteria. 3. At least one of the following symptoms during two vertiginous attacks; migrainous headache; photophobia; phonophobia; visual or other auras. 4. Other causes are excluded by appropriate investigations.6565
See also basilar-type migraine.
mild head injury
627
Benign paroxysmal positional vertigo and Me´nie`re disease are statistically related to migraine, but the possible pathogenetic links have not been established. Moreover, migraineurs suffer from motion sickness more often than controls.4632
current criteria. The essential complaint is of subjective memory impairment (relative to the performance of others matched by age and education). General cognitive functions are relatively unimpaired and activities of daily living are carried out normally. Criteria for the diagnosis of clinical dementia are not fulfilled. migralepsy The association of features of Pathologically, patients with amnestic migraine and of epilepsy in the same attack. MCI show the early changes of Alzheimer The term was suggested by Sir William disease. Conversion rates from amnestic MCI Gowers. Minor Abnormalities That May Exist Alone or to Alzheimer disease are about 15% per year. in Association with Major Anomalies However, scores below the expected level for migrant sensory neuritis (of any subject could reflect the normal 6. Glioneuronal heterotopias: A verrucous Wartenberg) A self-limiting condition cortex with excess cell migration into the attainment level for that individual; the characterized by the repetitive brief molecular layer and the meninges. effect of the earliest stages of Alzheimer or occurrences of a sudden searing pain in the 7. Microdysgenesis: An excessive number of another disease, or the effects of some territory of a sensory nerve, precipitated by neurons in the molecular layer, irregular intercurrent influence, such as drug or movement of a limb and leading sometimes thickness of neuronal layers, and the alcohol ingestion, recent/current morbidity to sensory deficits. It has been considered presence of heterotopic neurons in the from other disease, other psychological outer white matter. that this may occur because of stretching stresses, etc.3183 Thus reversible causes of resulting from movements of a limb4180 or MCI include depression, upper airway from compression (as in the case or meralgia migratory recurrent cranial obstruction, and a variety of metabolic, paresthetica) but multiple sclerosis is neuritis A syndrome of repetitive cranial nutritional, or sensory impairments. Control sometimes a more acceptable explanation. of vascular risk factors such as systolic nerve palsies lasting a few weeks and hypertension, hypercholesterolemia, affecting the same or different nerves migrating focal seizures in diabetes mellitus, atrial fibrillation, (usually the cranial nerves II to VI), with infancy A rare epileptic encephalopathy of headache.6228 See also acute painful transient ischemic attacks, and strokes may infancy characterized by frequent and then delay progression to dementia.4089 ophthalmoplegia. almost continuous intractable, multifocal Examining the cognitive domains of speed/ seizures with motor and autonomic migratory seizures See fragmentary attention, memory and learning, visuocomponents. The EEG records multifocal spatial function, language and executive seizures. spikes, particularly in the Rolandic and function, rather few subjects actually have temporal areas, and diffuse background theta Mikulicz–Gougerot–Sjo pure, isolated, memory impairment;4696 ¨ rgren activity.6833, 4882 The disorder is devastating however, the relative sparing of cognitive syndrome See Sjo¨gren syndrome.4478 and often fatal. domains other than memory does distinguish the condition from diagnosable Milan Overall Dementia Alzheimer disease. Diagnostic criteria have migration abnormalities See assessment A composite tool for the been suggested as follows:5000 heterotopias, lissencephaly and Chart L–6. assessment of cognitive impairment, The main pathological types of migration Complaint of memory loss (by patient or an composed of an autonomy scale measuring informant) abnormality have been defined as everyday coping skills; four items Normal activities of daily living (no follows:75, 1673 concerning orientation; and nine impairments) neuropsychological tests assessing attention, Major Abnormalities Normal general cognitive functioning intelligence, memory, language, space Abnormal memory for age (score more than 1. Type I lissencephaly-agyria: A smooth 1145 1.5 SD below mean for age) brain possessed of a 4-layer cortex with a cognition, and visual perception. thick layer of arrested heterotopic neurons, resembling a fetal brain at 13 weeks of gestation. 2. Type II lissencephaly (Walker–Warburg syndrome): A totally disorganized cortex divided by gliomesenchymal trabeculae into glomeruli with disoriented cells. 3. Pachygyria: few, thick gyri, similar to lissencephaly with less numerous heterotopic neurons. 4. Polymicrogyria: Multiple small gyri with ‘‘cauliflower’’ appearance; 4-layer cortex without heterotopic neurons but paucicellular layer in continuity with
normal layers 4–5. Other types include unlayered microgyria. 5. Localized cortical dysplasia. (The term dysplasia is used both in a general sense to designate all developmental cortical abnormalities or in the restricted sense of focalized defect of cortical organization). Absent lamination, anarchic distribution of neurons and glial cells are typical. In one type, ‘‘balloon cells’’ similar to those in tuberous sclerosis are found.
mild Broca aphasia See Broca aphasia.
mild cognitive impairment (benign senescent forgetfulness, ageassociated cognitive decline, age-associated/ consistent memory impairment; minimal cognitive impairment, MCI) An operational definition for a heterogeneous collection of disorders causing a measureable degree of cognitive decline in elderly people, which however is not definable as dementia by
Failure to meet current criteria for dementia. These criteria were only minimally changed by an European Working Group in 1995. It has been suggested that four subcategories (amnestic or not, and with single or multiple domains) can be differentiated, but the value of this is uncertain.
mild head injury (mild traumatic brain injury) A traumatic incident resulting in loss of consciousness for less than 30 min, or in dazing without loss of consciousness at all; an initial Glasgow Coma Scale score of
mild postural cerebellar tremor 13–15 without subsequent deterioration; and an absence of focal neurological deficits, depressed skull fracture, intracranial bleeding, or other pathology.1931 Symptoms such as headache, dizziness, fatigue, irritability, impaired concentration, memory, and the ability to perform mental tasks, insomnia, depression, and reduction in tolerance to stress, alcohol, and excitement are however common, and are remarkable for their transience in the presence of verbal motivation.3370
mild postural cerebellar tremor See cerebellar tremors.
mild traumatic brain injury See mild head injury.
milestones The motor skills acquired, in order, by the developing infant. These are listed in Chart M–11. See also Denver Developmental Screening Test.
628
miliary aneurysms (from Lat, millet seeds) The term of Charcot (1866) and of Bouchard (1872) for the tiny dilatations of arterioles now known by the names of both. See Charcot-Bouchard aneurysm.
milk-alkali syndrome See Burnett syndrome.
milkmaid sign Variability in the isometric force exerted by the wrist and by individual fingers during attempts to grasp an object. The sign is positive in choreic states.6789
Millard, Auguste (1830–1915) French physician who graduated from Paris, where he practiced and published extensively in the areas of pediatrics and internal medicine.
Millard–Gubler syndrome (Gubler paralysis) A pontine lesion affecting the VII nerve nucleus and the descending pyramidal fibers on one side of the ventral pons, causing homolateral facial paresis and contralateral Milgram Test When the supine patient hemiplegia.2608 The syndrome may also raises both legs a few inches off the bed for include a VI nerve palsy. Credit for 30 s, back pain suggests the presence of localization of the syndrome belongs to radiculopathy, caused by the increased Gubler, Millard having his anecdotal intrathecal pressure induced by the contribution (a letter) published immediately maneuver. after it in the same issue of the Gazette Chart M–11. Developmental Milestones Months (The latest date by which the milestones are normally first attained) Watches mother Smiles Extends neck in prone position, raising head briefly Vocalizes, apart from crying Lifts head prone when held in ventral suspension Laughs; turns head toward meaningful sound Grasps with whole; hands come together in play; rolls over alone Head held erect while sitting; raises upper body on arms in prone position; transfers objects between hands; drinks from a cup (held); looks at own hands; stretches arms out to mother 7 Simple sounds (Ba, Da, Goo, etc.) 8 Double-syllable words (DaDa, MaMa etc.) 9 Sits supported 10 Responds to own name 11 Crawls; pulls up to standing; walks while holding-on 12 Pincer (finger-thumb) grasp 14 Says at least one meaningful word 15 Builds a tower of two cubes; Walks unsupported 16 Picks up, and drinks from, a cup 24 Builds a tower of 6 cubes; uses pronouns (I, me, you) 36 Builds a tower of 9 cubes; copies a circle 48 Copies a cross 60 Copies a triangle 60–96 Dry at night
1 1–2 1 2 3 4 5 6
hebdomadaire me´dicine et chiurgerie although he had previously described the same condition, but without any useful analysis.4359
Miller, Henry (1913–1976) English neurologist. After completing medical studies at the University of Newcastleupon-Tyne, he trained in psychiatry and neurology in Newcastle and London, returning to northern England for the rest of his clinical career, except for wartime service. His teaching and almost prescient clinical skills were legendary. The clinical research topics he explored included multiple sclerosis, accident neurosis, and numerous other topics in neurology and psychiatry, not all of the latter being welcomed by psychiatric colleagues, perhaps in part because in his writing he displayed readability, irreverence, individuality, courage, and common sense. Some of his obiter dicta are not to be forgotten; ‘‘The best instrument for obtaining the plantar response is the ignition key of a Bentley’’ and ‘‘Hemiplegic multiple sclerosis is a rarity and only to be diagnosed by me’’ are classic examples. He was professor of neurology, dean of the medical school, and later vice-chancellor of his University, secretary-general of the World Federation of Neurology, and visiting professor in numerous universities. He also held many other positions in national or international neurology by election or acclamation. The book Remembering Henry (BMJ Publications) was compiled within a decade of his death by those who knew him and displays a true renaissance figure who enhanced the form as well as the substance of neurology. Miller–Dieker syndrome (OMIM 247200) The association of lissencephaly with facial dysmorphism, hypertelorism, cloudy corneae, congenital cardiac and renal anomalies, enlarged liver, polydactyly, syndactyly, seizures (infantile spasms), decerebrate posturing, and microcephaly, described by Dr. J.Q. Miller.4367 The responsible chromosomal deletion is of a band on 17p13.3. See lissencephaly. Miller Fisher syndrome (Fisher syndrome, ophthalmoplegia–ataxia–areflexia syndrome, acute oropharyngeal palsy, brainstem ‘‘encephalitis’’) A self-limited syndrome in which truncal and limb ataxia, ptosis, and conjugate gaze palsies leading on
Minamata disease
629
to ophthalmoplegia, the involvement of other cranial nerves, and hyporeflexia without significant motor or sensory deficits in the limbs are the leading signs. There is often a history of recent antecedent infection. Other features include acellular CSF with high protein levels and occasionally internal ophthalmoplegia.2077 IgG antibodies to GQ1b and GT1a have been detected.6807 Sensory loss is unusual. Electrodiagnostically, sensory and motor conduction velocities are normal but sensory nerve action potentials may be small. Long considered to be a variant of the acute inflammatory demyelinating polyneuropathy syndrome, it has now been suggested that it is actually a manifestation of brainstem encephalitis;83 but whether this represents a central or a peripheral lesion (or both) is still debated. Anti-GQ1b IgG antibodies have been found in both of these conditions and in acute ophthalmoparesis. IgG anticerebellum (anti-Purkinje cell) antibodies may also be found, the latter perhaps explaining the central nervous system involvement.970 A similar condition was reported by Collier in 1932. See also multiple cranial nerve palsies syndrome, mesencephalitis, rhombencephalitis, and Bickerstaff brainstem encephalitis. Variants include absence of the ophthalmoplegia; a syndrome of bilateral ptosis, ataxia, and areflexia;6917 and an ataxic form of acute inflammatory polyneuropathy resulting from damage to the brainstem or cerebellum. Diagnostic criteria in Chart M–12 have been suggested by Ropper et al.5387 http://www.ninds.nih.gov/disorders/ miller_fisher/miller_fisher.htm is a relevant Web site from the NIH.
polyneuropathy or a form of gammopathic Milles syndrome A variant of the Sturge–Weber syndrome in which an angioma neuropathy, although the latter presents with a lower motor neuron syndrome.3631 of the choroid occurs without glaucoma.
Millikan–Siekert syndrome See
mimetic (Gr, imitative) Apt to imitate. 1. Applied to diseases which resemble others in their manifestations, such as syphilis, Mills, Charles Karsner (1845–1931) AIDS, and systemic lupus erythematosus. American neurologist, the first professor of 2. Human actions which copy those of others. neurology in the United States, who operated the first neurological ward, at mimetic automatism In the context Philadelphia General Hospital. (Later of epilepsy, a facial expression suggesting an neurological wards were created at Bellvue in emotional state such as fear. 1898 for Dana, at Mount Sinai in 1900, and at Boston City Hospital in 1909. By 1923, mimetic palsy See emotional facial eight independent neurological departments palsy. existed in the United States.) Mills described ascending and descending mimetic smile Retention of the ability forms of progressive paralysis, alcoholic to contract the lower facial muscles on the polyneuropathy, and geniculate ganglion hemiparetic side during the spontaneous act neuralgia. His classic and highly popular of smiling or laughing, while voluntary textbook The Nervous System and its Diseases— contraction of these muscles is impossible on A Practical Treatise on Neurology command; and due to an upper motor (Philadelphia) was published in 1898 and neuron lesion above the pons. was notable for its inclusion of sections on The disparity results from the anatomical the neurological examination and on situation; while the corticobulbar tract functional localization. mediates the volitional ‘‘smile,’’ the mimetic
vertebrobasilar insufficiency.
smile depends on the functional integrity of fibers from the central tegmental tract unilateral progressive ascending or descending derived from the hypothalamus, thalamus, paralysis with wasting but also hyperreflexia, and globus pallidus. Thus, the subject with a usually starting in the leg and later affecting high supranuclear lesion may laugh the arm and eventually the other side as well symmetrically even though the lower facial without significant sensory involvement. The quadrant is paretic when attempting bulbar muscles are spared.4384 voluntary, nonemotional movements. It is an entity of uncertain nature, but probably represents a form of amyotrophic mimic palsy Facial palsy. See Bell palsy. lateral sclerosis (primary lateral sclerosis). Some have considered it to represent acute mimic spasm Facial muscle spasm, inflammatory demyelinating probably due to dystonia.
Mills syndrome A rare chronic,
Chart M–12. Diagnostic criteria for Miller Fisher syndrome
mimo-causalgia See reflex sympathetic dystrophy.
Clinical Features:
Minamata disease A toxic encephalomyeloneuropathy due to chronic mercury poisoning, which occurred between 1953 and 1956 in people living by a bay in southern Japan, methyl mercury in the seawater having been concentrated in the fish that they caught and ate. Salivation, cerebellar signs, numbness due to sensory neuropathy, Laboratory abnormalities that confirm the diagnosis: deafness, concentric constriction of the visual fields, and delirium or dementia were the A. Variable, usually slight, elevation of CSF protein concentration B. Abnormal motor nerve conduction and late responses in the legs major signs recorded.4197 Low-level exposure is under investigation as a factor reducing From Ropper AH, Wijdicks EFM, Truax BT. Guillain–Barre´ Syndrome. Philadelphia, F.A. Davis, 1991 by motor skills and auditory and visual functions kind permission of Oxford University Press. in the young. A. B. C. D. E. F.
Bilateral, relatively symmetrical weakness of several extraocular muscles, and ptosis Limb and gait ataxia with cerebellar tremor Areflexia in all limbs by 1 week Progression of the aforementioned three features over several days to 3 weeks Minimal or no limb, facial or oropharyngeal weakness, or paresthesias Normal alertness, no cerebellar dysarthria except as a result of the previous feature; no Babinski signs
mind
mind (Middle English, from Saxon; to remember) 1. The power of human intelligence. 2. The sum total of the phenomena of the functional activity of the brain, subdivided into feeling, will or volition, and thought, through which all subjective and objective experience is derived.
630
minimal brain dysfunction (minimal brain damage, Struwwelpeter syndrome, hyperkinetic syndrome) A syndrome of incoordination, overactivity, impulsivity and emotional lability, reduced attention span, and often specific learning deficits, apparent when the child first attends school.1203 See attention deficit disorder.
minimally conscious state
A condition of reduced consciousness characterized by inconsistent but discernible, sustained, and reproducible evidence of consciousness/awareness, retention of sleep–wake cycles, ability to localize sounds and noxious stimuli and to fixate visually, and with some ability to vocalize and to show emotional facial miner’s nystagmus A form of movement.2353 Thus patients may minimal change myopathy pendular nystagmus accompanied by light purposefully track objects visually and even Weakness of presumably congenital origin intolerance and oscillations of the head in communicate; sleep–wake cycles are associated with normal or near-normal people who have worked for years in 1966 retained; the subject can localize noxious See benign congenital darkness. Whether this entity really exists is muscle biopsy. stimuli and sounds, are capable of sustained myopathy. questionable. visual fixation, and may vocalize, smile, or cry in response to environmental stimuli. It minimal ice water caloric test A Mingazzini maneuver With the is related to dysfunction of the forebrain and test of labyrinthine function using 0.2 ml of patient lying supine, the hips are actively medial thalamus. flexed to about 808 and the knee is held at a ice-cold water with the head elevated 308 and Surveying the diagnostic criteria 1008 angle so that the lower leg is horizontal, tilted toward the opposite side for the first suggested2352, 2064 it seems agreed that at 10 s. The patient should wear þ20D parallel to the bed. The ankles are then least one of the following must be present: dorsiflexed to 908 and this position is held as (Frenzel) lenses. The standard test popularized by Ba´ra´ny 1. The subject can follow simple long as possible, up to a maximum of 30 s. used 10–20 ml, which induces nystagmus, commands, though perhaps The test is positive (for a pyramidal lesion) inconsistently, and if the hip or the leg begin to fall or if there past-pointing, and drift, but also nausea and 2. Can respond with gestures or yes/no vomiting in many cases. This modification 6245 is a loss of foot dorsiflexion. answers (regardless of accuracy). results in nystagmus for a shorter period, but 3. Intelligible verbalization is retained without the unpleasant miniature end-plate potential (to some degree) accompaniments.4619 4. Purposeful behaviors (contingent (MEPP) The postsynaptic muscle fiber smiling or crying, vocalization or potentials produced through the spontaneous minimal record of disability gestures, reaching for, holding, or release of individual acetylcholine quanta (MRD) A rating scale published by the touching objects) are present and from the presynaptic axon terminal. As U.S. National Multiple Sclerosis Society, contingent upon environmental stimuli recorded with monopolar or concentric needle designed to quantitate the effects of multiple rather than being reflexive. electrodes inserted in the end-plate region, sclerosis. It was last modified in 1983.3094 The 5. Sustained visual pursuit or sustained MEPPs are monophasic, negative, short record was designed to follow the three-tier visual fixation occurs in direct response duration (2% COX-negative fibers if 5% COX-negative fibers if >50 years of age; extensors Rash typical of dermatomyositis: heliotrope (purple) periorbital edema; violaceous papules or macules, scaly if chronic, at metacarpophalangeal and interphalangeal joints and other bony prominences. Erythema of chest and neck (V-sign) and upper back (shawl sign)
Exclusion criteria a. Clinical features of inclusion body myositis; asymmetric weakness, wrist/finger flexors same or worse than deltoids; knee extensors and ankle dorsiflexors same or worse than hip flexors. b. Ocular weakness, isolated dysarthria, neck extensor > neck flexor weakness c. Toxic myopathy (e.g., recent exposure to myotoxic drugs) active endocrinopathy (hyper- or hypothyroid, hyperparathyroid), amyloidosis, family history of muscular dystrophy or proximal motor neuropathies. 2. Elevated serum CK levels 3. Other laboratory criteria a. Electromyography Inclusion criteria: Increased insertional and spontaneous activity (fibrillation potentials, positive sharp waves or complex repetitive discharges) Morphometric analysis reveals predominantly long-duration large amplitude MUAPs Decreased recruitment pattern of MUAPs Exclusion criteria Myotonic discharges Morphometric analysis reveals predominantly long-duration large amplitude or decreased recruitment of MUAPs b. MRI: diffuse or patchy increased signal within muscle disuse on STIR images c. Myositis-specific antibodies detected in serum 4. Muscle biopsy inclusion and exclusion criteria a. b. c. d. e. f. g. h. i.
Endomysial inflammatory cell infiltrate (T-cells) surrounding and invading non-necrotic musclefibers Endomysial CD8 þ T cells surrounding, but not definitely invading non-necrotic muscle fibers or ubiquitous MHC-1 one expression Perifascicular atrophy MAC depositions on small blood vessels, or reduced capillary density or tubuloreticular inclusions in endothelial cells on EM or MHC-1 expression of perifascicular fibers Perivascular perimysial inflammatory cell infiltrate Scattered endomysial CD8 þ T cells infiltrate that does not appear to surround or invade muscle fibers Many necrotic muscle fibers as the predominant abnormal histological feature. Inflammatory cells are sparse or only slight perivascular; perimysial infiltrate is not evident. MAC deposition on the small blood vessels, or pipestem capillaries on EM may be seen, but tubuloreticular inclusions in endothelial cells are uncommon or not evident. Rimmed vacuoles, ragged red fibers, COX negative fibers that would suggest IBM MAC deposition on the sarcolemma of non-necrotic fibers and other indications of muscular dystrophies with immunopathology.
Reprinted from Hoogendijk JE, Amato AA, Lecky B. Trial design in adult idiopathic inflammatory myopathies with the exception of inclusion body myositis. Neuromuscul Disord 2004;14: 337– 45 with permission from Elsevier Science.
Pompe, J.C.
815
smallness of the extremities, and shortness of polyradiculitis with cellular 3962 infiltrates See neurolymphomatosis. Acute myoglobinuric polymyositis with virus-like stature. Variant forms are as follows:
crystals: An acute, degenerative, necrotic muscle disease presenting with fever and muscle hypotonia and accompanied by myoglobinuria, probably due to influenza B6 virus infection.1164, 2236 Chronic focal polymyositis: A chronic, sporadic inflammatory myopathy of adult life with insidious onset, affecting the quadriceps, the forearm flexors, and the brachioradialis muscles, associated with raised serum CK levels and with typical muscle biopsy specimen appearances.606 Inflammatory myopathy with COX negative muscle fibers: A slowly progressive proximal myopathy affecting mainly the quadriceps.3812
An overlap syndrome with the features of both polymyositis and inclusion body myositis is also described. See also inclusion body myositis, scapuloileoperoneal atrophy with cardiomyopathy and inflammatory myopathy, congenital inflammatory myopathy, acne fulminans with inflammatory myopathy.
polyneuritis cranialis 1. A demyelinating disorder affecting the lower cranial nerves (V, VII, IX, X, and XII), and considered to represent a localized form of acute inflammatory demyelinating polyneuropathy. In some cases, ophthalmoplegias, ataxia, or weakness of the limbs and trunk are also present. The CSF protein level is raised.5074 2. See superior orbital fissure syndrome.
polyneuropathy–skin polyradiculoneuritis See acute pigmentation– inflammatory demyelinating hepatosplenomegaly syndrome polyneuropathy. A syndrome with onset in early adult life, characterized by papilledema, gynecomastia, hepatosplenomegaly with ascites, lymphadenopathy, demyelinating sensorimotor neuropathy, edema, skin hyperpigmentation, and cavernous hemangiomas.381
polyopia The perception of multiple
mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
polyosotic fibrous dysplasia See McCune–Albright syndrome.
polyphagia Excessive ingestion of food without hunger; often a compulsion, to be distinguished from morbid hunger. polypharmacy The practice of prescribing more than one drug for the same condition, notably the use of multiple anticonvulsant agents in the treatment of intractable forms of epilepsy. action potential with four or more baseline crossings, producing five or more phases. See phase. Cf. serrated action potential. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis. Reproduced by kind permission of the AANEM.) See also diphasic wave, triphasic wave.
polyneuropathy, organomegaly, polyporencephaly See multicystic endocrinopathy, monoclonal encephalopathy. gammopathy, and skin changes See POEMS. polyradiculitis (polyradiculopathy, polyneuropathy with acromicria A recessively inherited demyelinating peripheral neuropathy accompanied by retardation of intellectual function, premature menopause, unusual
polyradiculopathy.
polyradiculopathy 1. Any disease involving numerous spinal roots. 2. An EMG diagnosis made in patients with clinical evidence of disease affecting multiple roots and with normal or near-normal motor and sensory nerve conduction study findings but EMG evidence of denervation in a multiple-root distribution, either bilaterally or in three or more levels on one side.
images with a single visual stimulus. This occurs occasionally in patients with right-sided occipital lobe disease who see multiple images of moving targets in the defective field of vision. In such cases, the polyopia closely resembles, and may actually represent, visual perseveration. See also polysclerosis See multiple sclerosis. cerebral diplopia.
polyphasic action potential An polyneuropathy, ophthalmoplegia, leukoencephalopathy, intestinal pseudo-obstruction syndrome (POLIP) See
polyradiculoneuropathy See
polyradiculoneuropathy) Disorders affecting the spinal nerve roots at many levels. Most are inflammatory, often as a result of autoimmune attack, as in the case of acute inflammatory demyelinating polyneuropathy.
polysomnogram (polysomnography) The concurrent recording during sleep of such physiological variables as EEG, EOG, EKG, ear oximetry, respiratory rate and excursion, nasal air flow, and surface EMG of the anterior tibial and submental muscles. polysomnography See polysomnogram.
polyspike complex See multiple spike complex.
polyspikes See generalized multiple spikes.
polysynaptic reflex arc A spinal reflex arc in which interneurons are involved between the afferent and efferent neurons. Most nociceptive reflexes and some postural reflexes are of this type.
polytoxic fish poisoning A form of seafood poisoning in Indian, Pacific, and Caribbean waters with clinical features indistinguishable from ciguatera fish poisoning.2484 Pompe, J.C. (1901–1945) Dutch pathologist who described the disease named for him in his Amsterdam graduation thesis. He was shot by the German occupying forces for his resistance activities.
Pompe disease
816
Pompe disease (glycogenosis type 2)
Pool, James Lawrence (b. 1906)
See glycogen storage diseases.
New York neurologist who described myeloscopy (in 1942) and the following sign.
developmental delay. Callosal agenesis is commonly found as well. This condition is similar to olivopontocerebellar degenerations in that spastic paraparesis Pompe disease of children See may also be found; it is incompatible with glycogen storage diseases. life after a few years.4700 One form maps to 7q11–21. See cerebellar ataxias (variants), Pompe disease of infants See Paine syndrome. glycogen storage diseases. Variants are pontocerebellar hypoplasia type 1, a recessively inherited form characterized by pons (or pons varioli) (Lat, a bridge) The hypoplasia of the pons and the cerebellum in section of the brain stem between the medulla association with an axonal motor neuropathy and the midbrain. The first published and gross developmental delay without description was that of Variolus in 1573. extrapyramidal features; spinal muscular atrophy with pontocerebellar hypoplasia; and pontine disconnection pontocerebellar hypoplasia type 2, also recessively syndrome See locked-in syndrome. inherited and associated with microcephaly and extrapyramidal dyskinesia.426 pontine locked-in syndrome See locked-in syndrome. pontogeniculo-occipital waves (PGO waves) Cortical signals recorded in animals during rapid eye movement sleep, accompanied by muscular twitching, embryonic defect in which on MRI shows autonomic changes, and irregular vermal hypoplasia, subtotal absence of the respirations.These electrical discharges arise middle cerebellar peduncles, flattening of from the giganticocellular field in the pons the ventral pons, a vaulted pontine and pass to many brain areas, as a result of tegmentum, a molar tooth sign, and absence disinhibition during rapid eye movement of the inferior olivary prominence. Clinical sleep. They have been considered to underlie features include peripheral hearing the desynchronization of the EEG, the eye impairment in all patients and horizontal movements, and the instability of the gaze palsy, dysphagia, bilateral V and VII autonomic nervous system during rapid eye nerve involvement, ataxia, and bony movement sleep.280 They are also vertebral anomalies in some cases.429 occasionally recorded in the human EEG immediately before the onset of rapid eye pontobulbar palsy with deafness movement sleep.2255 (Brown–Vialetto–Van Laere syndrome) A rare recessive syndrome of bilateral nerve pontomedullary sulcus infarct deafness and nonfunctioning labyrinths with See lateral medullary syndrome. progressive weakness of all the muscles supplied by the cranial nerves below the pontoneocerebellar hypoplasia fifth, occurring in early childhood. Spinal See pontocerebellar hypoplasia. motor neurons and the pyramidal tract are also affected2260 such that the condition may pontopseudocoma See locked-in be considered as a motor neuron disease. syndrome.
pontine tegmental cap dysplasia A brainstem and cerebellar
pontocerebellar hypoplasia
pontosubicular necrosis Neuronal
(pontoneocerebellar hypoplasia) A group of hereditary neurodegenerative disorders of uncertain etiopathogenesis, though possibly mitochondrionopathies. These rare congenital disorders are characterized by hypoplasia mainly of the lateral lobes of the cerebellum and the brainstem, manifested clinically in neonatal life with feeding problems and respiratory distress, microcephaly and brachycephaly, seizures, optic atrophy, ataxia, hypotonia with hyperreflexia, and mental and
injury limited to the pontine nuclei and hippocampus occurring in premature infants born between 26 and 36 weeks gestation who suffer hypoxia and acidosis and who are subsequently exposed to high oxygen concentrations.407
ponytail headache A pure extracranial headache arising from pericranial muscle fascia and traction on tendons by the weight of hair within a ponytail.678
Pool-Schlesinger sign (leg phenomenon) A sign of latent tetany; the induction of painful spasms in the knee extensors and ankle plantar flexors when the hip is maintained in flexion with the knee extended. The same phenomenon occurs in the forearm and hand when the shoulder is held in a position of elevation and forced abduction. Popeye effect The appearance of the wasted proximal part of the arm compared with the less-affected forearm in certain forms of muscular dystrophy, notably facioscapulohumeral dystrophy. The phenomenon is named for the cartoon character depicted thus.
Popeye syndrome A form of brachial plexus palsy in which there is proximal (upper arm) muscle atrophy with retention of muscular bulk more distally, as may occur with C5–6 lesions. A similar finding is occasionally seen in patients with limb-girdle muscular dystrophy.
popliteal angle Part of Dubowitz’ battery of tests for assessing gestational age.1728 With the infant supine and the pelvis flat on the examining couch, the thigh is held in the knee-chest position by the examiner’s left index finger and thumb supporting the knee. The knee is then extended by gentle pressure from the examiner’s right index finger behind the ankle, and the popliteal angle (between the femur and the lower leg) is measured—the smaller the angle, the greater the degree of hypertonia.
Popplelreuter task A test of right hemispheric visual perceptual processing, wherein the subject is required to identify each of two superimposed line drawings of common objects.5078 Porch index of communication ability A standardized and reliable (but complex) instrument for the assessment of a sample of language functions, praxis, and other communication skills, requiring substantial training on the part of the interviewer, in which a patient is made to
positive sharp wave
817
see, hear, or feel common objects, and his spoken and written naming responses are recorded.5080
porencephaly The replacement of cerebral tissue by fluid, usually as the result of a localized ischemic lesion in the pre- or perinatal periods (type 1) or as a familial developmental disorder (type 2). The condition was recognized by Cruveilhier, but was so named by Heschl in 1859. Clinically, hemiparesis, seizures, and intellectual impairment are the usual features. Radiological criteria have been defined.1842 See also the NIH Web site: http://www.ninds.nih.gov/disorders/ porencephaly/porencephaly.htm.
poriomania Wandering, as a manifestation of a clouded or confused state in complex partial seizures. The term was introduced by Emil Kraepelin.4191
Porteus maze test A test of planning surest and simplest sign of disturbance of the vestibular system. Most cases have a peripheral cause (benign paroxysmal positional vertigo). In such cases there is a latency of 5–30 s before the nystagmus appears with assumption of the provocative position, the nystagmus fatigues after some seconds, habituation occurs on portmanteau word The fusion of part or whole of two or more words to form a re-testing, the direction of the nystagmus is always to one side only (although a torsional hybrid neologism.1330 component may be present), and the accompanying vertigo may be severe. None portosystemic shunt of these features is present when the lesion is encephalopathy See acquired central. hepatocerebral encephalopathy. In a variant form, persistent directionchanging positional nystagmus,358 fatigue does Porto-Systemic not occur but the nystagmus persists as long Encephalopathy Index A scale used as the position is held but changes direction to evaluate the severity of the with different head positions. encephalopathy by scoring asterixis, the mental state, trailmaking test time, EEG positional vertigo See benign changes, and arterial ammonia levels.1268 positional vertigo. behavior assessing largely the function of the frontal lobes, wherein the subject is required to trace with a pencil the paths through progressively more complicated printed mazes.5086
Portuguese neuropathy See Andrade neuropathy.
porphyrias Dominantly inherited disorders in the biosynthesis of heme, leading to the excessive production and excretion of porphyrins. Hepatic and erythropoietic forms are differentiated, neurological complications occurring only in the former. See acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria.410, 1322 Doss porphyria is a very rare variant, presenting with abdominal pain. Excessive excretion of porphobilinogen and of l-aminolevulinic acid is characteristic. In a classic exercise in medical detection, Macalpine and Hunter3984 concluded that porphyria has affected members of the royal houses of the United Kingdom (and their European relatives), back at least to Mary, Queen of Scots, but most prominently to King George III. porter’s tip position That position of the arm assumed by patients with Erb palsy (C5–6 or upper trunk brachial plexopathy). The arm hangs adducted and pronated, with the fingers in slight flexion due to weakness of the shoulder abductors, the elbow flexors and supinators, and the long extensors of the wrist. In previous eras, porters were available to carry luggage. Today, regrettably, the alternative name of policeman’s tip has gained favor.
Portuguese Society of Clinical Neurophysiology A professional organization based at Laboratoria de EEG, Centro de Estudos Egas, Moniz Hospital, Santa Maria 1699, Lisboa Codex, Portugal.
positioning nystagmus A common form of nystagmus occurring as a result of rapid head movement, seen in many patients with lesions of the vestibular system of any type and at any site. See vestibular nystagmus.5 positive myoclonus See myoclonus.
Poser criteria Criteria for the diagnosis positive occipital sharp of multiple sclerosis, the first to introduce transients of sleep (lambdoids) Sharp, the concept of laboratory evidence as support for the clinical diagnosis.5094 Dr. Charles M. Poser is a contemporary American neurologist.
transient, single, or repetitive EEG waves with maximal amplitude over the occipital regions, positive relative to other areas, and occurring apparently spontaneously during sleep. Their amplitude varies but is generally positional alcohol nystagmus below 50 mV. (Adapted from the 1974 The occurrence of nystagmus and vertigo in Report of the Committee on Terminology, the presence of levels of blood alcohol above IFCN1117 and reproduced by kind 0.4 gm/l. This occurs due to the diffusion of permission of Elsevier Science and the alcohol into the cupula within the ampulla of IFCN.) the semicircular canals, where it alters the relative densities of the cupula and the positive sharp wave A biphasic, endolymph, transforming the semicircular initially positive action potential from a canals into gravity-sensitive receptors.819 See single muscle fiber. It may be initiated by also vestibular nystagmus. needle electrode movement (insertional or unsustained positive sharp wave) or may occur spontaneously. Typically the discharge positional nystagmus Nystagmus is in a uniform, regular pattern at a rate of induced by changes in the position of the head, usually tested by getting the patient to 1–50 Hz; the discharge frequency may decrease slightly just before it ceases. The move quickly from an upright to a headinitial positive deflection is rapid 3 months poliomyelitis with partial or complete than 30 min; the GCS score was 13 or higher; after whiplash injury.’’ recovery of neurological function followed and the headache resolves within 3 months An unusual variant is acute postcraniotomy by a period of stability (usually several headache, a headache of variable intensity, decades); persistent new muscle weakness or after head trauma. For acute headache attributed to other head maximal in the area of the craniotomy, abnormal muscle fatigability; and the developing within a week of the craniotomy exclusion of other causes of new symptoms. and/or neck, the ICHD criteria are very similar. and commonly resolving in less than The etiology is likely due to a distal A related form is acute headache attributed to 3 months, although persistence is degeneration of enlarged postpoliomyelitis motor units, while contributing factors may whiplash injury. The IHS committee pointed recognized. The ICHD Classification2820 recognizes be aging (with motor neuron loss), overuse, out that the term whiplash commonly refers 6393 to sudden acceleration/deceleration of the and disuse. the following varieties: acute and chronic A persisting intrathecal neck (usually due to a motor vehicle posttraumatic headache (attributed to immune response to the poliovirus is accident). The clinical manifestations moderate or severe head injury); acute or frequently present.5762 The condition include symptoms and signs that relate to chronic headache attributed to whiplash probably represents the exhaustion of overstressed motor neurons as they try to maintain innervation of the unusually large number of myofibrils in each of the few Chart P–17. Diagnostic Criteria for Acute Post-Traumatic Headache remaining motor units.1414 A synthesis of suggested diagnostic Acute post-traumatic headache attributed to moderate or severe head injury. Diagnostic criteria have been criteria2709, 4539, 1965 follows: defined: after that time. Either penetrating or nonpenetrating injuries may be responsible in either case.3203, 3204
1. A confirmed prior episode of paralytic poliomyelitis with residual motor neuron loss 2. A period of neurologic recovery, followed by an interval of stability (partial to fairly complete neurologic and functional recovery, usually for 15 years) 3. The gradual or abrupt onset of two or more of the following health problems since achieving a period of stability:
A. Headache, no typical characteristics known, fulfilling criteria C and D B. Head trauma with at least one of the following: 1. 2. 3. 4.
Loss of consciousness for >30 min. Glasgow coma scale [score] 48 h Imaging demonstration of a traumatic brain lesion (cerebral hematoma, intracerebral and/ or subarachnoid hemorrhage, brain contusion and/or skull fracture)
C. Headache develops within 7 days after head trauma or after regaining consciousness following head trauma D. One or other of the following: 1. Headache resolves within 3 months after head trauma 2. Headache persists but 3 months have not yet passed since head trauma
• Unaccustomed fatigue, muscle, and/or joint pain Adapted from the International Classification of Headache Disorders (Headache Classification • New weakness in muscles previously Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission affected and/or unaffected of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.)
posttraumatic syndrome
826
Chart P–18. Diagnostic Criteria for Chronic Posttraumatic Headache
month or two after recovery of consciousness from a head injury without Chronic headache attributed to other head and/or neck trauma, for which the ICHD criteria are the same abnormal EEG activity or imaging evidence as those for the acute form except that criterion D now reads: ‘‘Headache persists for >3 months of lesions of the basal ganglia. The reported after the head and/or neck trauma’’. response to anticonvulsants suggests that Headache attributed to epidural hematoma Diagnostic criteria have been defined: the condition may have an epileptic A. Acute-onset headache, no other typical characteristics known, fulfilling criteria C and D basis.1710 B. Neuroimaging evidence of epidural hematoma C. Headache develops within minutes to 24 h after development of the hematoma D. One or other of the following: 1. Headache resolves within 3 months after evacuation of the hematoma 2. Headache persists but 3 months have not yet passed since evacuation of the hematoma.
posttraumatic stress disorder (shellshock, nostalgia) A multisymptom complex occurring in some
Related to this is headache attributed to subdural hematoma for which the ICHD criteria are the same subjects following severe and distressing physical or emotional trauma outside the as the foregoing except that criterion B now reads; ‘‘Neuroimaging evidence of subdural range of normal human experience. The hematoma’’.
disturbance causes clinically significant distress or impairment in social, occupational, or other important areas of functioning. It has also been defined in the ICD-10, accessible at http:// www.nimh.nih.gov/health/publications/ adhd/symptoms.shtml/ as an anxiety injury; headache attributed to traumatic posttraumatic neuralgia intracranial hematoma (epidural (cold pain) Intense, deep throbbing pain in disorder that can develop after exposure to a terrifying event or ordeal in which hematoma, subdural hematoma); acute or the hand or foot, referred proximally and chronmic headache attributed to other resembling the normal person’s sensation of grave physical harm occurred or was head and/or neck trauma; and acute and intense cold, brought on by cold or by deep threatened. The traumatic events that may trigger PTSD include violent chronic postcraniotomy headache. pressure in the area bordering the zone of personal assaults, natural or humancomplete anesthesia following a peripheral caused disasters, accidents, or military nerve injury. It is a variant of Head’s posttraumatic syndrome hyperesthesia, but differs from causalgia in combat. A condition of asthenia, irritability, People with PTSD have persistent its restriction to the innervation territory of diminished concentration, depression, frightening thoughts and memories of the affected nerve and in the response to and frequently headache following head their ordeal and may experience sleep cooling.1590 trauma that was severe enough to have problems, feel detached, or be easily caused at least a brief period of startled. The person who develops posttraumatic neurosis See unconsciousness. PTSD may have been the one who was disability neurosis. harmed but alternatively the harm may posttraumatic hypersomnia posttraumatic osteoporosis See have happened to a loved one or the person may have witnessed a harmful A dyssomnia that occurs as a result of a reflex sympathetic dystrophy. event. Though first brought to public traumatic event involving the CNS, attention in relation to war veterans, it characterized clinically by complaints of posttraumatic pain syndrome can also result from a variety of excessive sleepiness and frequent daily See reflex sympathetic traumatic incidents such as mugging, sleep episodes, their onset temporally dystrophy. rape, torture, being kidnapped or held associated with head trauma, and with captive, child abuse, car accidents, train normal timing, quality, and duration posttraumatic Parkinson wrecks, plane crashes, bombings, or of sleep. The minimal sleep latency disease Criteria for the diagnosis have natural disasters such as floods or test shows a mean latency of less than been suggested by Crouzon,1359 who earthquakes. 10 min and less than two sleep-onset considers that the trauma shall have been People with PTSD may startle easily, REM sleep periods as recorded by sufficiently violent to cause concussion; the become emotionally numb (especially in polysomnography.1629 time between the trauma and the onset of relation to people with whom they used to Parkinsonism must be short, and that an be close), lose interest in things they used uninterrupted course of Parkinson disease posttraumatic movement to enjoy, have trouble feeling affectionate, should follow. be irritable, become more aggressive, or disorders Tremors, Parkinsonism, and even become violent. They avoid situations generalized or segmental axial dystonias of that remind them of the original incident, central or peripheral origin, occurring either posttraumatic paroxysmal and anniversaries of the incident are often as a direct result of the trauma on the nervous choreoathetosis A syndrome system or by acceleration of a pre-existing characterized by the occurrence of attacks of very difficult. PTSD symptoms seem to be condition.3158 typical paroxysmal choreoathetosis within a worse if the event that triggered them was Adapted from the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24 [Suppl 1] by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.)
postvaccinial encephalomyelitis
827
deliberately initiated by another person, as in a mugging or a kidnapping. Most people with PTSD repeatedly relive the trauma in their thoughts during the day and in nightmares when they sleep. These are called flashbacks. Flashbacks may consist of images, sounds, smells, or feelings, and are often triggered by ordinary occurrences, such as a door slamming or a car backfiring on the street. A person having a flashback may lose touch with reality and believe that the traumatic incident is happening all over again. Not every traumatized person develops full-blown or even minor PTSD. Symptoms usually begin within 3 months of the incident but occasionally emerge years afterward. They must last more than a month to be considered PTSD. The course of the illness varies. Some people recover within 6 months, while others have symptoms that last much longer. In some people, the condition becomes chronic. The major indices are that there shall have been exposure to a traumatic event that is persistently re-experienced in any of several ways; the subject avoids reminders of the event and displays a numbness of feeling to it; and has symptoms of increased arousal such as insomnia, mood swings, impaired concentration, and increased startle reactions. The American Psychiatric Association DSM IV-TR diagnostic guidelines172 can be found at http://www.behavenet.com/ capsules/disorders/ dsm4TRclassification.htm/.
posttussive syndrome See cough
Postural control declines with age, as assessed by counting the number of steps a (forewarned) patient takes backward in postural deviation Tilting or response to a modest thrust on the sternum; movement of the whole body in the direction two to four steps are considered evidence of of the flow of endolymph provoked by moderate impairment.2596, 6696, 6266 See also caloric testing or by intrinsic disease of the rescue reactions, protective reactions. vestibular system. This is noted when the subject walks heel-to-toe or along a straight postural syncope (areflexic syndrome) line on the floor. Reduction in consciousness as a result of
syncope.
postural motor seizure The adoption of a posture which may be bilaterally symmetrical or asymmetrical (as in a ‘‘fencing posture’’) during a seizure.16
reduced cerebral perfusion after attaining the upright posture. The mechanisms of this may be either vasovagal, or an impairment of autonomic reflex function.
postural tremor Tremor present when postural orthostatic tachycardia syndrome (POTS) (neuro-mediated cardiogenic syncope) A mild and treatable form of autonomic dysfunction presenting with modest falls in blood pressure that are insufficient to cause actual syncope, but produce near-syncope with vertigo, dizziness, atrial tachycardia, disabling fatigue, exercise intolerance, and lightheadedness accompanying postural tachycardia. It usually is seen in young people who experience recurrent episodes leading to neurocardiogenic syncope that occur without warning. Diagnosis is facilitated by head-upright tilt table testing, which demonstrates a heart rate increase of 30 beats/min (or a maximum heart rate of 120 beats/min) within the first 10 min upright (unassociated with profound hypotension), reproducing the symptoms. Central serotonergic mechanisms appear to participate in the pathogenesis of such recurrent neurally mediated syncope. Aside from the secondary risks of sudden syncope, the condition is usually not life-threatening.2597
the subject voluntarily maintains a position against gravity. When it appears, usually during the performance of visually guided tasks, it may be called position-specific postural tremor. See cerebellar tremors, tremor.
posturography A standardized quantitative laboratory method of studying vestibulo-ocular function, in which patients with dysequilibrium stand on a platform and the amount of body sway is analyzed when standing level or with anteroposterior or lateral tilt of the platform and with the eyes open and closed.2046, 23
postvaccinal encephalomyelitis See disseminated vasculomyelinopathy.
postvaccinial encephalomyelitis
A potentially lethal multifocal immunological, inflammatory, and posttraumatic syndrome demyelinating polioencephalopathy A condition of asthenia, irritability, occurring as a complication in subjects who diminished concentration, depression, and have received primary vaccination. In frequently headache following head trauma children younger than 2 years, encephalitis that was severe enough to have caused at least may develop abruptly in the first 10 days a brief period of unconsciousness. See also after vaccination, presenting with any postural reflexes Involuntary patterns combination of fever, malaise, irritability, de Morsier syndrome. of muscle contraction designed to headache and vomiting, hyperactivity or compensate for shifts in gravity with somnolence or coma, apnea, Jacksonian posttraumatic syringomyelia alterations in body position. Such neural seizures, aphasia, VI nerve palsy, hemiplegia, The occurrence of a syrinx, usually at equilibratory mechanisms are of two kinds: Guillain–Barre´ syndrome, stiff neck, and thoracic or cervical levels, months or years Anticipatory postural responses are truncal opisthotonos. Survivors are usually left with after spinal cord injury.1833, 5665 adjustments made immediately preceding mental impairment and paralysis. a limb movement in order to preserve In older children, the encephalitis occurs balance. posttraumatic tremor Postural and 10 days after vaccination, with fever, Reactive postural responses are sequential vomiting, malaise, lethargy, personality kinetic tremor of the hands and head postural reactions to a shift of the center 4723 changes, paraparesis, headache, anorexia, occurring 1–4 weeks after mild head injury, of gravity of the body when standing. often accompanied by myoclonic-like confusion and drowsiness, generalized and (Reproduced by kind permission of the focal motor seizures, and coma. The brain is jerking. The shaking resembles that of American Academy of Neurology and hyperemic, with lymphocytic infiltration of essential tremor.615 Lippincott Williams and Wilkins.)
postventilatory paretic syndrome the meninges and degeneration of the ganglia. Mortality is 10–35% within 7 days of onset. Survivors are often left with upper motor neuron paralyses and mental impairment. Except for its causation, the condition is identical with post infectious encephalomyelitis.
postventilatory paretic syndrome An acquired syndrome of unknown cause occurring in adults or in children, characterized by neurogenic or myopathic weakness due to axonal neuropathy developing after a period of assisted ventilation for asthma or other severe pulmonary or meningitic illness. See Hopkins syndrome, acute myopathy, and critical illness polyneuropathy, the conditions variously considered to be responsible.2913, 3633
828
(After the 2001 Report of the Nomenclature collapse or dislocation.5099 See also chronic Committee of the American Association of spinal meningitis. Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the Potter syndrome (oligohydramnios AANEM.) syndrome) A recessively inherited congenital dysmorphic syndrome, characterized by potential field The amplitude oligohydramnios prior to birth, and distribution of an EEG wave at the surface of thereafter by growth retardation, lung the head or of the cerebral cortex or in the hypoplasia, bilateral renal agenesis, dry skin, depth of the brain, measured at a given micrognathia, limb deformities, defects of instant in time, and usually represented in neuronal migration with cerebellar diagrams by equipotential lines. (Adapted heterotopias, and, in some cases, from the 1974 report of the Committee on hydrocephalus.2601 Terminology, IFCN. In: Chatrian GE, Bergamini L, Dondey M, et al. A glossary of Potzl, Otto (1877–1962) Austrian terms most commonly used by clinical psychiatrist who graduated from Vienna, electroencephalographers. EEG Clin Neurophysiol 1974;37:538–48. Reproduced where he spent most of his professional life, latterly as professor of neurology and with kind permission from the IFCN and psychiatry. Elsevier Science.)
postviral asthenia See chronic fatigue potentiation Physiologically, the
Potzl syndrome Word blindness with
enhancement of a response. The convention is to use the term to describe the potassium-aggravated incrementing mechanical response of muscle elicited by repetitive nerve stimulation, e.g., myotonia A sodium channelopathy posttetanic potentiation, whereas the term presenting with muscle stiffness after facilitation is used to describe the exercise. incrementing electrical response elicited by repetitive nerve stimulation, e.g., potassium exercise test postactivation facilitation. (From the 2001 A standardized exercise test designed to Report of the Nomenclature Committee show that increases in serum potassium levels as a result of exercise (80–100 W on a of the American Association of Electromyography and Electrodiagnosis.19 bicycle ergometer) are less than normal in Reproduced by kind permission of the subjects with the hypokalemic variety of AANEM.)6325 See also incrementing familial periodic paralysis.3291 response.
hemianopia and disturbance of the recognition of colors.5100
syndrome.
potassium depletion myopathy An acute myopathy associated with endogenous or drug-induced potassium loss, and presenting with flaccid muscle weakness without sensory loss, myalgia, polyuria, and polydipsia. Serum CK levels are markedly raised. Atrophy of type 2 fibers is observed on muscle biopsy specimens. The condition reverses with potassium repletion.1262
(1664–1741) French ophthalmologist, anatomist, and army surgeon who described contralateral innervation as a result of the decussation of the pyramids in his Lettres d’un me´decin des hospitaux (Naumur, 1710) as well as the anatomy of the sympathetic chain and the ocular signs resulting from damage to it, as in the following syndrome which he observed in soldiers wounded by sabres.
potomania An abnormal desire to drink. (HJM)
Pott, Sir Percival (1714–1788)
See myotonia fluctuans.
English surgeon at St. Bartholomew’s Hospital. Pott’s fracture was that of the fibula, originally described in himself following a fall from a horse. He also described cancer of the scrotum in chimneysweep children and wrote on hernias and head injury as well as the following condition, in 1779.
potential 1. A difference in charge (measured in volts) that exists between two points. Most biologically produced potentials arise from the difference in charge between two sides of a cell membrane. 2. A physiologically recorded waveform.
Pott paraplegia Paraplegia due to compressive myelopathy, the latter resulting from tuberculous spondylitis (caries of the vertebral column), local accumulations of tuberculous pus or granulation tissue, or as a result of vertebral
potassium-sensitive myotonia
Pourfour du Petit, Francois
Figure P–1 Francois Pourfour du Petit
preictal pseudosleep
829
Pourfour du Petit syndrome (cervical sympathetic irritation syndrome) Mydriasis, exophthalmos, widening of the palpebral fissure, and increased intraocular pressure as a result of irritation of the sympathetic chain in the neck. This represents the inverse of Horner syndrome.1720
pragmatic decoding The utilization of non language cues to assist in decoding verbal meaning.
artery proximal to the posterior communicating artery.
prandic epilepsy See eating epilepsy.
Texidor twinge.
precordial catch syndrome See praxis The function of performance, as of a predormital myoclonus See sleep manual task; the execution of a learned
Powassan encephalitis A tick-borne movement in response to an appropriate direct infection of the brain by a flavivirus member of the togavirus group of arboviruses, and representing another member of the Russian spring-summer encephalitis complex but characteristically causing only sporadic (but severe) encephalitis with convulsions, respiratory failure, coma, and frequently death. The condition is described rarely, mainly affecting children, in all parts of the Northern United States and Southern Canada.6816
Practical Neurology A neurology digest journal covering current research, practice, and thinking in neurology, published by BMJ Journals and complementing the Journal of Neurology, Neurosurgery and Psychiatry.
stimulus, in the presence of normal afferent and efferent functions and without lack of attentiveness or of cooperation. This may be assessed formally by, for example, the Block Design test, using patterned cubes; by constructional tasks; and by having the patient perform complex movements on command or in imitation.
starts.
prefixation An anatomical variant in which the optic chiasm is situated unusually far forward with reference to the sella turcica, such that it lies above the tuber cinereum.
prefixation blindness The inability to see objects introduced into the space between the subject and the point of preacher’s hand (main de pre´dicateur) fixation, as the result of overlap of the two patient Extension of the metacarpophalangeal joints, blind hemifields when the eyes of a5027 with binasal hemianopia converge. flexion of the interphalangeal joints, and extension of the thumb as a result of combined median and ulnar nerve pareses, prefrontal leukotomy See prefrontal which put the hand into the position lobotomy. traditionally assumed by priests during the act of blessing. prefrontal lobotomy (prefrontal leukotomy) An operation introduced by
preangular alexia (anterior alexia) See Egas Moniz, designed to free schizophrenic alexia.
patients from the torment of their disordered thinking. Latterly it was found of some use in the management of obsessive-compulsive precentral area See motor cortex. states and of depressive illnesses, but its wide prechiasmal syndrome (Lat, before þ use, frequently in cases where the blunting of affect and the dilution of personality Gr, decussation) Compression of an optic characteristics were more troublesome than nerve and of the olfactory, as by a presellar the original disorder of mentation, led to its meningioma, which later grows back to vilification and eventual disuse.1816, 2194 involve the optic chiasm. Initially there is Prader–Willi syndrome involvement of one optic nerve, including (hypotonia, hypomentia, hypogonadism, the fibers within von Willebrand’s knee; at a preganglionic neurons Those obesity syndrome, HHHO syndrome) later stage, a Foster Kennedy syndrome may neurons of the parasympathetic and A complex multisystem chromosomal be also present. sympathetic systems arising from the CNS disorder. The diagnostic features (present in and passing to the peripheral ganglia. The over 90% of cases) include congenital name was attached by J.N. Langley. preclinical multiple sclerosis mental retardation; cerebellar ataxia; A speculative diagnosis made in asymptomatic infantile hypotonia; short stature; obesity patients with a normal neurological after infancy; cryptorchidism; preherpetic neuralgia Severe, examination whose MRI scans fulfill the hypogonadism; diabetes, strabismus, burning radicular pain felt in those and various musculoskeletal and dysmorphic Barkhof–Tintore´ criteria for multiple sclerosis. dermatomal regions destined to bear the develop MS acute lesions of herpes zoster between a week deformities, including ocular hypertelorism; About a third of them do in fact3740 after a mean delay of 6 months. low-set ears with overlapping helix; and 3 months later.2379 high-arched palate; micrognathia; precocious Alzheimer disease microdontia; defective dental enamel; preictal pseudosleep A state See congophilic angiopathy. and partial syndactyly of the toes. behaviorally resembling normal sleep in that Most affected subjects have a deletion the subject is motioness with the eyes closed, 1054, 1236 at 15q11. precognition See prescience. although the EEG shows a persisting alpha rhythm. It is recorded as preceding the precommunal posterior appearance of pseudoseizures (nonepileptic prae- (pre-) (Lat, in front of, before) cerebral artery That segment of the seizures).504 Prefix denoting before.
Prader syndrome (pseudodeficiency
rickets) A congenital dysmorphic syndrome manifesting also short stature, dental and skeletal anomalies, aminoaciduria and renal tubular acidosis, hypocalcemia, multiple fractures, hypotonia, seizures, and delayed closure of the fontanelles.381
premature aging with telangiectasias
premature aging with telangiectasias See Breathnach syndrome.
premature senility syndrome (Hutchinson–Gilford syndrome) See progeria.
prescience A profound sense of ‘‘knowing’’ what is going to happen in their environment in the immediate future, experienced as an aura by some patients with temporal lobe epilepsy.5493
‘‘presenile’’ dementia A term with no useful meaning, there being no notable difference either in the characteristics of a premaxillary agenesis A congenital, disease attacking mankind after as opposed sporadic, dominantly or recessively inherited to before the age of 65 years or indeed in the dysmorphic syndrome reflecting disordered people themselves. The term is best reserved embryonal differentiation and characterized as a pejorative for political opponents rather by midline cleft lip, microcephaly, flattened than as one bundling together such entities nose, hypotelorism, mental and as early-onset Alzheimer disease, the developmental delay, seizures, spastic frontotemporal dementias, dementia with quadriparesis, and impaired vision with Lewy bodies, and prion disorders such as colobomas. Hypopituitarism is commonly Creutzfeldt–Jakob disease. associated. The chromosomal abnormalities include trisomy 13 or 18, deletions at 18p- ‘‘presenile’’ dementia–motor and 13q-, etc.1235 neuron disease (ALS–Parkinson–
830
within months unless the severity of compression has led to axonotmesis. A variant familial form occurs, with onset at any age, in which weakness and sensory loss with autonomic dysfunction occur randomly in peripheral nerves in the presence of relatively minor compressive lesions.
pressure sensation The awareness of deep, nonpainful compressive distortion of a body part. This function is mediated by the same pathways as subserve discriminative touch sensation, and uses the larger myelinated fibers in the peripheral and in the posterior columns of the CNS. The term touch-pressure sensation underscores the similarity of the two modalities, which indeed may form a continuum.
pressure–volume index That volume of CSF required to produce a 10-fold dementia syndromes) A dementing syndrome increase in CSF pressure; a calculation of value physiologically in assessing CSF premotor area An arbitrary term for of adult onset manifesting behavioral and that area of brain lying immediately anterior speech disturbances, bulbar palsies, pyramidal formation and absorption rates and clinically in prognosticating the outcome after severe signs, and cerebral atrophy with gliosis to the motor cortex; its posterior border is head injuries.4140 ill-defined and its functions and those of the and spongy changes in the cerebral cortex. See amyotrophic lateral sclerosis. motor cortex overlap or may even be the pretectal pseudobobbing same, except that damage to this region leads Involuntary, repetitive, rapid, arrhythmic, to motor apraxia rather than to hemiplegia. Present Behavioral downward, and inward eye movements with Damage to the areas immediately anterior to examination A semistructured a faster downstroke than upstroke, occurring it gives rise to slowness of movements and examination with 121 main questions at slow rates and associated with pretectal perseveration. assessing mental health and abnormal rather than with pontine lesions, such as behavior in patienst with dementia, acute obstructive hydrocephalus. A blink 2981 premotor syndrome According to administered to a caregiver. precedes most of the movements, which may Fulton, a syndrome bearing witness to the represent a form of spontaneous convergence effects of lesions of the premotor cortex. This Present State examination nystagmus.3357 A semistructured psychiatric interview used syndrome has four main components: mainly in the diagnosis of dementia.6824 inability to perform skilled movements, pretectal syndrome A collection of particularly with the digits, without gross ocular changes associated with lesions of the impairment of motor power; spasticity and presque vu (Fr, almost seen) An internal dorsal brainstem at the level of the superior an increase in the muscle stretch reflexes; feeling of patients with visual field defects colliculus, characterized by limitation of forced grasping; and vasomotor that they are going to see something within downward gaze; retraction of the upper lid; disturbances, often with Jacksonian seizures the blind field; a feeling not borne out by convergence–retraction eye movements; in addition. Walshe,6623 however, criticized subsequent experience. paralysis of convergence; dysjunctive eye this formulation and considered that apraxia positions including esotropia and skew of movement was the only important pressor nerves Those sympathetic deviation; and nystagmus. The pupillary consequence of such lesions. nerves which, when stimulated, lead to abnormalities include diminished light arteriolar vasoconstriction and thus to an response, light-near dissociation, and increase in blood pressure. anisocoria.3361 See dorsal midbrain syndrome. presbyacusis Deafness occuring with advancing age. pressure palsy Weakness as a result of pretraumatic amnesia See conduction block occurring in a peripheral retrograde amnesia. presbyophrenia Dementia occurring nerve compressed as a result of internal with advancing age. derangements caused by external forces; the pretrigeminal neuralgia A mild loss of function of a peripheral nerve due to ‘‘toothache’’ or ‘‘sinus-like’’ pain felt in the incidental compression. The compression distribution of the trigeminal nerve, presbyopia (from Gr, old man þ eye) triggered by jaw movement or drinking hot Impairment of the power of accommodation has presumably led to ischemia with local conduction block; it is usually reversible or cold liquids and preceding by days or years with aging.
primary cough headache
831
acute episodes of trigeminal neuralgia in the primary angiitis of the central same facial region.2219 nervous system See Ab-related angiitis.1314 Preus syndrome A congenital dysmorphic syndrome characterized also by primary antiphospholipid low birth-weight, small mouth, cleft palate, syndrome The occurrence of clinical thrombotic disease and/or fetal loss in dwarfism, coarse hair, hernias, skeletal association with thrombocytopenia and the anomalies, sensorineural deafness, presence of antiphospholipid antibodies in cryptorchidism, hypotonia, myoclonic the blood. Young adults are predominantly seizures and mental and developmental affected; noninflammatory thrombotic delay.381 occlusion of large or small arteries or veins causes, variously, spontaneous abortion, Prevention and Treatment of migraine, seizures, multi-infarct dementia, Wernicke–Korsakoff Syndrome chorea, amaurosis fugax or retinal artery An informational site of the Medical Council occlusion, cardiac murmurs, mitral valve on Alcohol. Web site: http:// lesions, and livedo reticularis.2887 www.medicouncilalcol.demon.co.uk/.
Pre´vost sign (Vulpian sign) Conjugate
primary autonomic failure See
progressive autonomic failure. deviation of the head and eyes toward the side of an acute cerebral lesion and away from primary basilar impression the paralysed side.5116 See also conjugate eye A bony deformity characterized by deviation, Vulpian sign. indentation of the floor of the posterior fossa by the atlas, diminishing its volume, and not priapism (from Lat, Priapus—the god of due to bone disease such as osteomalacia or Paget disease. The condition may be procreation) Sustained penile erections, as asymptomatic or associated with features may occur in men with incomplete spinal cord lesions or on walking, when it may be a suggesting the Chiari malformation. sign of spinal (canal) stenosis.
primary adhalinopathy See myopathy (severe childhood muscular dystrophy)
primary alcoholic dementia A non-entity.6542 See instead Wernicke– Korsakoff encephalopathy, pellagra encephalopathy, Marchiafava–Bignami disease, and acquired hepatocerebral encephalopathy.
primary cerebrovascular amyloidosis See congophilic
angiopathy.
primary chronic cluster headache See chronic cluster headache. primary chronic insomnia
lymphocytes with multiplication of the basement membranes of those blood vessels involved by the lymphomatous process. The B-cell and T-cell types can be differentiated by immunocytochemistry.4739 It can also appear in the eye, the spinal cord, and the peripheral nerves. Clinically, the tumor presents as a supratentorial solitary lesion in 80% of cases, producing the clinical syndromes of confusion, dementia, increased intracranial pressure or focal CNS signs, and seizures; uveocyclitis is unusually common. Both progressive and relapsing-remitting courses are described. Such features are increasingly seen in this decade as a complication of immunosuppression, as in AIDS,4200 as well as of congenital immunodeficiency syndromes, drug therapy, and collagen vascular diseases, but in the past the tumor was found to affect mainly males during later adult life. Enhancement of a mass in the gray matter or the corpus callosum without surrounding edema, and contrast-enhancing lesions in contact with the subarachnoid space and without necrosis are characteristic findings on CT or MRI scans. They sometimes appear well before the clinical manifestations of the disease (sentinel lesions).6860 The tumor is exquisitely sensitive to steroid treatment, which induces lysis of its cells. Lesions are located in deep structures only in one-third of the cases, and rarely involve the posterior fossa. Most are hyperdense or isodense on CT scans, hypointense or isointense on T1-weighted MRI images. Nearly all enhance. Meningeal or ventricular enhancement is rare but suggestive.1297 See also intravascular lymphomatosis (primary intravascular lymphoma).
An idiopathic syndrome of lifelong fragmentation of sleep with daytime fatigue, tension, and depression, sometimes associated with signs of minimal brain primary cough headache (benign cough headache, Valsalva-maneuver primary aldosteronism See Conn damage. headache) Headache of sudden onset and syndrome. lasting from 1 s to 30 min resulting from primary CNS lymphoma temporary impaction of the cerebellar tonsils (reticulum cell sarcoma, perivascular primary alveolar sarcoma, microglioma, perithelial small cell below the foramen magnum due to the hypoventilation syndrome See pressure difference between the ventricles sarcoma, primary [malignant] cerebral congenital central hypoventilation and the lumbar subarachnoid space during lymphoma, immunoblastic sarcoma) syndrome. coughing, etc. but in the absence of any A potentially fatal primary neurological malignancy characterized by the presence of intracranial disorder. Idiopathic intracranial multiple deep intracerebral (periventricular) hypotension is another cause. primary amnesia The headache occurs only in association or sub-meningeal lymphomatous masses, A monosymptomatic cognitive disorder in which there is slowly developing amnesia in their histological appearance similar to that with coughing and/or sneezing, straining, e.g., during bowel movements, laughing, or of systemic non-Hodgkin lymphoma, and the absence of other signs of cortical stooping or any other activity that induces a consisting of large lymphoid cells, functional impairment such as that of Valsalva maneuver. Because possible perivascular histiocytes, microglia, plasma language, praxis, perception, or etiologies include Chiari malformation type cells and various (mainly B) forms of calculation.3947
primary degeneration of the granular layer of the cerebellum 1, posterior fossa mass lesions, basilar impression, intracranial hemorrhage, and brain tumours, MRI of the brain must be performed to exclude possible structural lesions.1132
deviation of the covered normal eye is known as secondary deviation. The latter is of greater amplitude. See Cover test.
primary diffuse leptomeningeal gliomatosis A rare, fatal syndrome
832 A. Pulsating headache fulfilling criteria B and C. B. Lasting from 5 min to 48 h. C. Brought on by and occurring only during or after physical exertion. D. Not attributed to another disorder.
primary degeneration of the characterized by extensive basal and chronic From the International Classification of granular layer of the infiltration of the meninges by tumor cells Headache Disorders (Headache Classification cerebellum A congenital developmental arising from heterotopic cell nests, without Committee of the International Headache abnormality leading to cerebellar ataxia. See parenchymal involvement. The clinical presentation is typically with headache, Lhermitte–Duclos disease. raised intracranial pressure, and primary degenerative dementia encephalopathy. Elevated CSF levels of protein and low glucose with moderate Those forms of dementia caused by disease processes that primarily affect the CNS but mononuclear pleocytosis are usual and in the absence of direct evidence of neoplasia which are neither infectious nor due to 6871 vasculopathy. Other organs may also be commonly lead to a diagnosis of chronic meningitis. Meningeal biopsy may assist in affected. The disease causes progressive 463 dysfunction and degeneration of neurons and making the diagnosis. other cells. Four subgroups are defined primary diffuse meningeal (Chart P–19):2647 melanomatosis See melanomatosis. primary dementias Those primary generalized epilepsies dementing conditions due to degenerative disease of the brain affecting primarily the Seizure disorders without macroscopic nerve cells. pathological features, inherited either as polygenic or as autosomal dominant characteristics with age-dependent penetrance primary deviation A phenomenon and characterized by generalized tonic–clonic, observed during the performance of the alternate cover test in a patient with a lesion myoclonic, or generalized absence seizure types, either alone or in combination. of one of the oculomotor nerves causing muscle paresis. When patients direct their gaze in the direction of action of the affected primary exertional headache muscle, deviation of the covered paretic eye (benign exertional headache, ‘‘weight-lifters’ away from the target is known as primary headache’’) Headache precipitated by any deviation. When they direct their gaze so that form of exercise. Diagnostic criteria have the paretic eye fixes on the target, the been defined:
Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications. Exercise-induced migraine may also occur in such subjects.
primary generalized epilepsy of adolescence See typical absence epilepsy of adolescence.
primary generalized epileptic myoclonus A fragment of primary generalized epilepsy usually manifesting as small focal muscle jerks (minipolymyoclonus) or as generalized and precisely synchronized bodily jerks. The origin of the electrical discharge is considered to be an area of hyperexcitable cortex driven to synchrony by ascending impulses from subcortical regions.2695
primary headaches The ICHD2820 lists these as migraine, tension-type headache, cluster headache, and trigeminal autonomic cephalalgias; also hemicrania continua; hypnic headache; new dailypersistent headache; primary cough headache; primary exertional headache; primary headache associated with sexual activity; primary stabbing headache; primary thunderclap headache.
Chart P–19. Subgroups of Degenerative Dementia Frontotemporal cortical predominance Pick disease. Frontal lobe dementia. ALS with dementia. Atypical Alzheimer disease. Rare familial forms. Temporoparietal cortical predominance Alzheimer disease with early onset. Alzheimer disease with late onset. Down syndrome with dementia of Alzheimer type. Subcortical Dementias. Other forms Parkinson disease with dementia. Diffuse Lewy body disease. After Gustafson L. Clinical classification of dementia conditions. Acta Neurol Scand Suppl 1992;139:16–20.
primary headache associated with sexual activity (benign sex headache, coital cephalalgia, benign vascular sexual headache, sexual headache) Headaches precipitated by sexual activity, usually starting as a dull bilateral ache as sexual excitement increases and suddenly becoming intense at orgasm, in the absence of any intracranial disorder. Two forms are recognized: Preorgasmic headache, for which diagnostic criteria have been defined:2820 A . Dull ache in the head and neck associated with awareness of neck and/ or jaw muscle contraction and fulfilling criterion B B . Occurs during sexual activity and increases with sexual excitement C . Not attributed to another disorder
primary lateral sclerosis (PLS)
833 Adapted from the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications. Orgasmic headache, a postural headache resembling that of low CSF pressure, developing after coitus.
primary hyperaldosteronism (Conn syndrome) Excessive secretion of aldosterone by the adrenal cortex, leading to hypertension, sodium retention, hypokalemic alkalosis, muscle weakness, tetany, and, in some cases, to features of familial periodic paralysis (hypokalemic form).
Chart P–20. Diagnostic criteria for Primary Idiopathic Polymyositis A. Predominantly or exclusively proximal, usually symmetrical muscle weakness, progressive over weeks or months, with or without myalgia and with or without compatible dermatological features. B. Biopsy evidence of muscle fiber necrosis, regeneration and mononuclear cellular infiltrate (perifascicular and intrafascicular) with or without perifascicular atrophy. C. Elevated serum CK (MM isoenzyme), aldolase or myoglobin levels. D. Multifocal EMG changes typical of myopathy (small, short-duration polyphasic motor potentials), with or without increased insertional activity and spontaneous potentials. Definite polymyositis is diagnosed when all four criteria are satisfied; three criteria allow a diagnosis of probable polymyositis. Adapted from Hudgson P, Peter JB. Classification (of Polymyositis). Clin Rheum Dis 1984;10:3–8, reproduced by permission.)
macrophages and scattered muscle fiber necrosis is notable.3310 The presence of skin changes should dictate the diagnosis of primary hyperoxaluria Two rare dermatomyositis. recessive disorders of glyoxalate metabolism The diagnostic criteria in Chart P–20 have characterized clinically by recurrent calcium been suggested by Hudgson (1984).3026 oxalate nephrolithiasis leading to chronic renal failure with death from uremia. The primary intravascular pathological mechanism responsible is the lymphoma See intravascular deposition of calcium oxalate crystals within lymphomatosis. the kidney and within the walls of arterioles and venules in other organs. An associated primary intraventricular neuropathy with both axonal degeneration hemorrhage The uncommon and segmental demyelination has been occurrence of hemorrhage into the ventricles reported rarely.2688 without periventricular extension, usually as a result of bleeding from an arteriovenous primary idiopathic malformation in a lateral ventricle, or as a dermatomyositis A form of result of moyamoya disease.1451 idiopathic dysimmune inflammatory myopathy in adults, resembling primary idiopathic polymyositis but showing in primary lateral sclerosis (PLS) addition various skin changes including A syndrome of adult life with slowly erythema affecting the butterfly area of the progressive generalized, asymmetric face and extensor limb surfaces and trunk, spasticity starting most commonly in the violet discoloration of the eyelids with legs, but sometimes in the arms or with periorbital edema, periungual hyperemia, speech, and resulting from circumscribed telangiectasia, sclerodactyly, keratosis, and atrophy of the precentral gyrus where skin edema. See dermatomyositis. there is eventually a complete loss of Betz cells, decreased numbers of pyramidal primary idiopathic polymyositis neurons, and laminar gliosis in the external and internal pyramidal cell cortical layers. (isolated polymyositis) An acute inflammatory myopathy due to a disorder of There are no lower motor neurone lesions and there is no cognitive impairment, the immune mechanisms. Clinically, the condition is characterized by acute, subacute, though emotional lability does occur. Severe spastic dysarthria progressing to or chronically progressive proximal anarthria is usual. weakness and Raynaud phenomenon, with Signs start most commonly in the legs, maximal incidence in childhood and again in but can start in the arms, or with speech in mid-adult life. Arthralgia, bulbar and respiratory muscle involvement, and muscle the form of a progressive spastic dysarthria pain are unusual and the skin is not involved. which all patients eventually develop. Other features include saccadic breakdown of Muscle biopsy specimens show little vascular change, but there is marked invasion smooth pursuit eye movements (in most), and urinary incontinence (in about half). of myofibrils by cytotoxic lymphocytes and
Patients become wheelchair bound after several years, but the rate of progression is variable. Cognitive impairment is absent but emotional lability common. MRI scans may show atrophy of the precentral gyrus. Pathologically there is highly circumscribed atrophy of the precentral gyrus with complete loss of Betz cells, decreased numbers of pyramidal neurons, and laminar gliosis in the external and internal pyramidal cell cortical layers. No lower motor neuron abnormalities are found in hypoglossal or spinal nuclei and the substantia nigra is unaffected. Pathology in these cases sometimes shows the nonspecific degenerative changes of frontotemporal dementia. Degeneration of motor neurons in the motor cortices is a hallmark feature of motor neuron disease, and primary lateral sclerosis (PLS) has been thought by many to represent a pure upper motor neuron form of MND. Pathological confirmation of the diagnosis has seldom been achieved in life and confusion with cervical spondylotic myelopathy, stroke, multiple sclerosis, or hereditary spastic paraparesis is likely in many of the reported cases.457 A genetic locus has been identified at 4ptel–4p16.1.6460 Erb in 1875 considered this is a rare variant of amyotrophic lateral sclerosis characterized by the isolated appearance of slowly progressive upper motor neuron lesion signs affecting all four limbs in the absence of any lower motor neurone signs and of disorder of cognition; that view is still disputed. A categorization of PLS has been proposed (Gordon et al.),2492 equating PLS with amyotrophic lateral sclerosis. This work is reproduced in Chart P–21 by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.
primary leukodystrophies
834
Chart P–21. Diagnostic Categories of Upper Motor Neurone-Predominant Motor Neurone Disease Autopsy proven primary lateral sclerosis (PLS) Clinically diagnosed PLS with degeneration in motor cortex and corticospinal tracts, no loss of motor neurons, no gliosis in anterior horn cells and no Bunina bodies nor ubiquitinated inclusions. Clinically pure PLS Evident upper motor neuron signs, no focal muscle atrophy or visible fasciculation and no denervation on EMG within 4 years from onset of symptoms. Age at onset >40 years. Secondary and mimicking conditions are excluded by laboratory tests and neuroimaging. UMN-dominant ALS Symptoms present for less than 4 years. or disability due predominantly to UMN signs but with minor EMG denervation or LMN signs on examination, not sufficient to meet diagnostic criteria for ALS. PLS plus Predominant UMN signs accompanied by clinical, laboratory, or pathologic evidence of dementia, Parkinsonism or sensory tract abnormalities. (If cerebellar signs, urinary incontinence, or orthostatic hypotension are evident, multiple system atrophy should be considered.) Symptomatic lateral sclerosis Clinically diagnosed PLS with evident possible cause (e.g., a paraneoplastic syndrome). Suggested diagnostic criteria are adult onset; negative family history; a duration of at least 3 years and normal. blood, CSF, EMG, and MRI results.3030 A more extensive set of diagnostic criteria has also been proposed by Singer (2007)5862 and is adapted here. Clinical features Presence of: 1. Findings of UMN disorder (spasticity, pathologic reflexes, weakness, when present, in UMN distribution) 2. Regions of involvement: Limb (legs, arms, or both); Bulbar; Mixed limb and bulbar. 3. Time course >4 years; 4. Progressive; 5. Age of onset: adult >20 years; 6. Bladder symptoms due to UMN dysfunction may be present. Absence of LMN disorder such as fasciculations or atrophy; sensory signs on examination; family history of a similar disorder Laboratory features supporting the diagnosis; 1. Transcranial magnetic stimulation: Increased CMCT, decreased cortical excitability (e.g., MEP cannot be obtained) 2. Magnetic resonance spectroscopy findings in motor cortex of decreased NAA/Cr ratio or NAA/Cho ratio 3. Diffusion tensor imaging findings in posterior limb of internal capsule such as decreased FA or increased ADC. Exclusionary findings: Serologic evidence for etiology of myelopathy; abnormal CSF; evidence of structural abnormality or demyelinating disorder on MRI of brain or spine; EMG findings of abnormal motor or sensory nerve conductions; the finding of any known HSP or alsin gene mutations. Classification of PLS Clinical PLS fulfils the above clinical and laboratory inclusionary and exclusionary features. Suspected PLS fulfils above clinical and laboratory inclusionary and exclusionary features except: 1. < 4-year duration; and 2. The finding of EMG evidence of minimal denervation that does not satisfy EI Escorial criteria for ALS. Complicated PLS (PLS plus) is that condition in which patients fulfil the criteria for clinical or suspected PLS but also have evidence of dementia, parkinsonism, or sensory abnormalities.
Frontal lobe patterns of dementia have been primary memory See short-term associated on rare occasion with amyotrophic memory. lateral sclerosis. Excellent reviews are those of Pringle and of Milller Fisher.5124, 1051, 2088 See primary orthostatic tremor also amyotrophic lateral sclerosis. (supermarket tremor, cocktail party tremor, orthostatic tremor) A high-frequency, primary leukodystrophies Rare, synchronized tremor in the legs and axial usually genetic metabolic disorders resulting muscles occurring within seconds after from deficits of myelin sphingolipids or standing up and increasing in amplitude specific proteins, with clinical onset mainly over time until relieved by walking, sitting, in infancy or childhood. See or lying down again. The patients usually leukodystrophies. complain of unsteadiness or imbalance. The frequency of the tremor is between 14 and primary malignant (cerebral) 18 Hz.2838 It is sometimes possible to see and to hear with a stethoscope (or detect with lymphoma See primary CNS EMG) a 16-Hz tremor in the quadriceps lymphoma.
muscle after the patient has been standing for a few seconds. The condition may occur alone or in association with cerebellar disease.
primary pallidal atrophy A basal ganglion syndrome characterized by involvement of the subthalamic nucleus, globus pallidus, and cerebellum.3049 See pure pallidal atrophy. primary parasomnias Sleep disorders occurring without associated pathology. Sleep and wakefulness are not mutually exclusive; for example, sleep drunkenness, microsleeps, and automatic behaviour. Rapid eye movement sleep has
primary progressive multiple sclerosis (PPMS)
835
both tonic and phasic components, and these Three subvarieties are distinguished: may persist into wakefulness; such disorders semanatic dementia, progressive nonfluent are subsumed under this heading. aphasia, and logopenic progressive aphasia.5393 The language deficit most often resembles primary partial epilepsies Focally Broca aphasia in its agrammaticism and originating, age-dependent seizure disorders nonfluency, but other dysphasic types are of congenital or childhood origin without macroscopic pathology. The group includes also described. The difference between this condition and slowly progressive aphasia, in benign rolandic epilepsy, benign partial epilepsy with occipital sharp waves, benign which dementia eventually supervenes, sensorimotor epilepsy with parietal spikes, appears to be largely a function of time. The relationship with Alzheimer disease is unclear, and atypical benign parietal epilepsy of but, on the basis of current neuropathological childhood. See also primary generalized data, seems unlikely to be close,3455 and the epilepsies. pathology may resemble that of Pick 3404 primary position The position of the disease; thus it is best regarded as an asymmetric cortical dengeneration syndrome. eyes at rest, looking directly forward in Diagnostic criteria have been parallel. See also secondary position. proposed4334 and are reproduced in Chart P–22 by permission. primary position upbeat See also Pick disease, corticobasal nystagmus A downward drift of the eyes ganglionic degeneration. when the patient attempts to maintain the primary position of gaze, interrupted by saccadic movements that correct the position primary progressive freezing of the eye back toward the primary position. gait A neurodegenerative syndrome that causes gait freezing during the first 3 years It is due to intra-axial lesions, usually of and later results in postural instability and a the pons or of the superior cerebellar wheelchair-bound state. Bradykinesia, vermis.2075 rigidity, postural tremor, hyperreflexia, and dementia are sometimes associated. The primary progressive aphasia condition does not respond to dopaminergic A focal cerebral cortical degenerative medications. syndrome characterized by a slow but It has been described in association with relentless deterioration of language abilities pallidonigroluysian degeneration, dementia with sparing of cognitive and behavioral with Lewy bodies, progressive supranuclear functions for 2 years or so, and due to focal palsy, and cortico-basal degeneration. spongiform degeneration in the left perisylvian region, confirmed by imaging techniques.4330 Although usually sporadic, primary progressive multiple sclerosis (PPMS) That form of an autosomal dominant form has been multiple sclerosis in which the disease described.1095 Chart P–22. Diagnostic Criteria for Primary Progressive Aphasia
manifests a slowly progressive course from its onset. It usually presents in later life (about 10 years later than the mean for relapsing–remitting MS) with asymmetrical spastic paraparesis (or quadriparesis) although visual distubances, ataxia, hemiparesis, or brainstem syndromes are also described in this form. Sensory changes are minimal if present at all but early bladder involvement (spastic bladder) is ususal and some cognitive impairments are described.4364 PPMS may manifest a reduced number of MRI lesions and be associated with a specific heterozygous Taq 1 HLA DQ ß restriction fragment, unlike secondary progressive multiple sclerosis.6296 This form represents 10–15% of all cases of multiple sclerosis. Linkage to the DR2 haplotype DRB1*1501 (Class II MHC, chromosome 6), has been established. MRI scans usually show atrophy of the cervical cord in addition to cerebral lesions as in relapsing-remitting multiple sclerosis. A late-onset form may in fact be due to Pelizaeus–Merzbacher disease.6650 Diagnostic criteria have been suggested:6301 and are reproduced with permission of Lippincott Williams and Wilkins. Definite PPMS 1. Clinical progression for at least 1 year and 2. Positive CSF evidence and 3. Positive MRI evidence or equivocal MRI evidence and a delayed visual evoked potential (VEP)
Probable PPMS Either: 1. Clinical progression for at least 1 year and 2. Positive CSF evidence and 3. Equivocal MRI evidence or delayed VEP
1. Insidious onset and gradual progression of word finding, object-naming, or wordcomprehension impairments as manifested during spontaneous conversation or as assessed or: through formal neuropsychological tests of language 1. Clinical progression for at least 1 year and 2. A limitation of daily living activities attributable to the language impairment, for at least 2 2. Positive MRI evidence or equivocal years after onset MRI evidence and a delayed VEP (but 3. Intact premorbid language function (except for developmental dyslexia) CSF evidence either unavailable or 4. Absence of significant apathy, disinhibition, forgetfulness for recent events, visuospatial negative) impairment, visual recognition deficits or sensory-motor dysfunction within the initial 2 years of the illness. (This criterion can be fulfilled by history, survey of daily living activities Possible PPMS or formal neuropsychological testing.) 1. Clinical progression for at least 1 year and 5. Acalculia and ideomotor apraxia may be present even in the first 2 years. (Mild constructional deficits and perseveration [as assessed in the go no-go paradigm] are also acceptable as long as 2. Equivocal MRI evidence or delayed VEP neither visuospatial deficits nor disinhibition influences daily living activities.) The revised McDonald criteria5073 are 6. Other domains possibly affected after the first 2 years faster than other affected domains similar, requiring progression for at least 7. Absence of ‘‘specific’’ causes such as stroke or tumor as ascertained by neuroimaging.
a year and two of the following:
primary reading epilepsy Nine MRI brain lesions or at least four brain lesions and abnormal visual evoked potentials At least two MRI spinal cord lesions Positive CSF oligoclonal banding or increased IgG index
primary reading epilepsy A dominantly inherited form of reflex epilepsy with symptoms beginning in the second decade, in which seizures are triggered by reading or by the eye or jaw movements commonly associated with that activity. If reading continues, a generalized convulsion may occur. A family history of epilepsy is common. The developmental history, neurologic examination, interictal EEG, and CT scan are normal, but EEG paroxysmal activity may be seen in the attacks with paroxysmal rhythmic theta activity or spikes evoked by reading over one or both frontocentral, centroparietal, or temporoparietal regions in association with jaw jerks. More prolonged reading-induced partial seizures with ictal dyslexia or alexia, possibly speech arrest, and reading-induced bilateral myoclonic seizures and absences have also been reported. Increased task difficulty, increased complexity of different types, and long duration of reading increase the chance of an attack. Most patients respond well to anticonvulsant therapy. An EEG pattern of left frontotemporal wave discharges is a common concomitant. See reading epilepsy.
primary rhinencephalic epilepsy Seizure disorders with initial involvement of the hippocampal and amygdaloid structures. Their clinical features include olfactory hallucinations, visceral motor symptoms, elementary automatisms, apnea, cardiovascular changes, tonic somato-motor manifestations, and disturbances of memory.72
836
women), now included as a separate entity in the IHS classification under ‘‘other primary headaches.’’ It is a paroxysmal disorder of short duration manifested as head pain involving the area supplied by the first division of the trigeminal nerve and occurring as a single stab or a series, lasting seconds, recurring irregularly from once to many times per day, with no underlying attributable disorder. The ICHD criteria2820 describe head pain occurring as a single stab or a series of stabs lasting up to a few seconds and recurring irregularly, exclusively or predominantly felt in the distribution of the first division of the trigeminal nerve (orbit, temple, and parietal area).
primary subcortical gliosis
headache associated with sexual activity, which can all present as thunderclap headache too.
primary trochlear headache Orbital pain emanating from the trochlear area in the absence of trochleitis or other orbital or systemic disease and possibly acting as a trigger point for migraine attacks. The condition appears to be more common in women, who complain of chronic unilateral moderate pain in the trochlear area with acute exacerbations and frequently with extension to other cranial sites. The diagnosis requires:6899 1. Unilateral headache with intense pain in the periorbital area appearing at the same time as soreness of the trochlea itself 2. Clear tenderness and exacerbation of the pain on examination of the trochlear region 3. Pain is exacerbated when the patient abducts the eyes fully 4. Lack of abnormal radiological and blood findings
A dementing syndrome of adult life with progressive and insidious course, differing from Pick disease only in the general atrophy of the cortex and in the absence of Pick cells. The usual histological features of Alzheimer disease are also absent, but there is widespread gliosis of the brainstem, basal ganglia, and subcortical white matter.4634 See also frontal lobe dementias. primary writing tremor A task-specific tremor; a variant of essential primary suppurative myositis tremor in which the unwanted movement See pyomyositis. appears only with attempts to write or on assuming the writing position.3265, 4745, 5434 primary systemic amyloidosis Dystonia may be associated. See amyloid.
primary thrombocythemia See thrombocythemia.
primary thunderclap headache A high-intensity headache with an abrupt onset mimicking that of ruptured cerebral aneurysm. Diagnostic criteria have been defined: A. Both of the following characteristics:
prime movers (agonists, protagonists) Those muscles whose action is to perform precisely a movement in question. See also antagonists, synergists, muscles of fixation. primidone embryopathy See fetal anticonvulsant syndrome
primitive neuroectodermal tumors (PNETs) Rare, highly
malignant embryonal neuroectodermal tumors found in children and young adults and characterized histologically by small B. Does not recur regularly over subsequent cells with a high nuclear–cytoplasmic ratio; primary sensory area The principal fine fibrillary processes; small, oval weeks or months somatosensory area of the cerebral cortex hyperchromatic nuclei; frequent mitotic C. Not attributed to another disorder comprising Brodmann’s areas 3, 2, and 1. figures; and evidence of glial, neuronal, or Adapted from the International Classification ependymal differentiation. They usually of Headache Disorders (Headache primary sensory neuropathy See Classification Committee of the International occur above the tentorium and seed widely subacute sensory neuronopathy. through the neuraxis.2783 Medulloblastoma, Headache Society. Cephalalgia medulloepithelioma, cerebral and 2004;24[Suppl 1]) by kind permission of abdominal neuroblastoma, primary stabbing headache (ice- Dr. Jes Olesen, the International Headache Society, and Wiley-Blackwell Publications. esthioneuroblastoma, retinoblastoma, pick pains, jabs and jolts, ophthalmodynia medulloblastoma, pinealoblastoma, periodica) An indomethacin-responsive See also primary cough headache, ependymoblastoma, and polar headache syndrome of mature adults (mainly primary exertional headache, and primary 1. Sudden onset, reaching maximum intensity in 4 taps/sec. smooth 1 ¼ 3 taps/sec. or faster but arrhythmic 2 ¼ < 2 taps/sec. 3 ¼ Cannot perform Diadochokinesis (Ask the patient to pronate and supinate his hand alternately, patting the other palm on the ipsilateral knee. Score each hand separately.) 0 ¼ 30% cell loss with specific patterns). 2. Sprouting of dentate granule cell mossy fibers. 3. Selective loss of certain hilar neurons (Somatostatin and NPY-containing cells). 4. Hamartomas and heterotopias may occur as ‘‘dual pathology.’’ 5. Microdysgenesis common. 6. Seizures may originate in sclerotic hippocampi but much larger area appears to be included in the epileptogenic region. H. Features that cast doubt on the diagnosis 1. A history of severe head trauma, encephalitis, or other specific causal events. 2. The occurrence of focal motor or specific sensory symptoms at seizure onset or postictally. 3. Interictal focal neurologic deficits. 4. Marked cognitive impairment on neuropsychological testing. 5. Bilaterally synchronous, generalized, or extratemporal focal EEG spikes. 6. Diffuse or extratemporal focal EEG slowing. 7. The presence of any cerebral lesion other than hippocampal sclerosis on MRI scans.
998
disorders in the case of a focus in the hemisphere dominant for language. These may progress to complex focal (partial) seizures with alteration in consciousness if propagation to mesial temporal or extratemporal structures occurs. Motor ictal symptoms include clonic movements of facial muscles, grimacing, finger and hand automatisms, dystonic posturing of an upper extremity, leg automatisms, restlessness, and unformed vocalizations. Lack of an epigastric aura or fear and the occurrence of rotation of the whole body differentiate this condition from mesial TLE. The scalp EEG shows unilateral or bilateral midtemporal or posterior temporal spikes which are most prominent in the lateral derivations.1264 This form comprises a third of all temporal lobe epilepsies and about 10%–15% of all epilepsies. Any temporal lobe pathology may be responsible.4882 A variant autosomal dominantly inherited form is described with the onset in youth or young adult life of visual and auditory and a benign course. Mapping to chromosome 10q has been achieved.5104
capsule(s). The headache should resolve within 3 months and not recur after successful treatment of the TMJ disorder.
Temtamy syndrome A dominantly inherited congenital syndrome characterized by brachydactyly, affecting mainly the second and fifth digits of the hand and the lateral four toes.3113 Obesity, hirsutism, blindness, scoliosis, platyspondyly, sclerosis of the skull, optic atrophy, pendular nystagmus, metaphyseal dysplasia, and skin atrophy have also been described in association.
tenalgia Pain arising from tendons of muscles overtaxed by protracted contraction. See repetitive strain injury, overuse syndromes.
tenascin An extracellular matrix glycoprotein expressed predominantly on glioma tissue in the CNS. Its assay may be useful in the evaluation and monitoring of the progress of brain tumors.6919
tendinous xanthomatosis See cerebrotendinous xanthomatosis.
temporal lobectomy Resection of the anterior 5–6 cm of a temporal lobe (back to the vein of Labbe´) in the treatment of medically intractable seizures arising from this region. Other stereotactic or surgical approaches are also available.
temporolimbic epilepsy See temporal lobe syndromes.
temporomandibular dysfunction (Costen syndrome [?],
oromandibular dysfunction, facial arthromyalgia, Schwartz syndrome, craniomandibnular disorder) A painful syndrome arising from dysfunction of the temporomandibular joint (TMJ), characterized by facial or jaw pains often radiating to the temple and neck, tenderness of the masticatory muscles, clicking arising from the TMJ, and restriction of jaw opening.6946 The syndrome has been critically reviewed.4614 The ICHD2820 suggests diagnostic criteria, including the demonstration of TMJ disorder by imaging; precipitation of pain by In lateral temporal lobe epilepsy, simple jaw movements, such as chewing of hard or seizures occur, characterized by auditory tough food; a reduced range of or irregular hallucinations or illusions or dreamy states, jaw opening; crepitus from a TMJ during visual misperceptions, or language jaw movements; and tenderness of the joint
tendon reflex (deep tendon reflex) See muscle stretch reflexes. That the percussion of a tendon should lead to reflex contraction of that muscle was not appreciated until 1875, when the German physicians Erb and Westphal each described the phenomenon. Despite the fact that Erb introduced this term, it remains a misnomer, as tendons have no part to play in the generation of the reflex, except for providing a convenient place to hit the patient. See also deep tendon reflex, an even worse misnomer.
TENDS See transient episodes of neurological dysfunction. tennis elbow See lateral epicondylitis. tensilon See edrophonium. Tensilon Test The observation of a patient with suspected myasthenia gravis, who shows fatigability after exercise and who is then given an intravenous injection of edrophonium chloride (Tensilon; an inhibitor of cholinesterase) in an attempt to reverse the fatigability temporarily. A 2-mg dose is usually injected first; if there are no untoward effects within 2 min more is given, either as one 8-mg dose or as
terminal latency
999
two doses (3 mg followed by 5 mg). Salivation, sweating, and fasciculations are common; hypotension and bradycardia are less common side effects. Cardiac arrhythmias and asthma are contraindications. Atropine should be available in the event of marked bradycardia. Cynics give a placebo dose of saline first. Improvement in ocular signs is the easiest to assess clinically, though better accuracy is obtained with the Lancaster red-green test. Unfortunately, ptosis and oculomotor weakness do not respond to the Tensilon in all cases of myasthenia gravis.5745, 1457
tensilon tonography A test for myasthenia gravis in which increased ocular pressure occurs after the intravenous injection of Tensilon (edrophonium chloride) in myasthenic patients as a result of contraction of the extraocular muscles in response to the drug; no such increase is seen in normal subjects.6876
Adapted from the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society. Cephalalgia 2004;24[Suppl 1]) by kind permission of Dr. Jes Olesen, the International Headache Society and Wiley-Blackwell Publications.2820
Subcategories delineated are as follows: Infrequent episodic tension-type headache associated with pericranial tenderness, which have the same diagnostic criteria but in which there is increased pericranial tenderness on manual palpation. Infrequent episodic tension-type headache not associated with pericranial tenderness. Frequent episodic tension-type headache, again with the same criteria except that the headaches occur on 1 but 50
5’ UTR/SLR 5’ UTR/SLR intron 1/AR 3’ UTR/AD Ant
6 16–37
8–13 >110
(Ala)n/AD 3’ UTR/AD
13p12–13 5q31–33 6q27
II. Diseases caused by other trinucleotide expansions Fragile X syndrome (FRAXA)/CGG Fragile XE syndrome (FRAXE)/GCC Friedreich ataxia/GAA Myotonic dystrophy/CTG
Xq27.3 Xq28 9q13–21.1 19q13.3
Oculopharyngeal muscular dystrophy/GCC Spinocerebellar ataxia type 8/CTG (SCA8)
14q11 13q21
FMR-1 FMR-2 Frataxin Dystrophia myotonica protein kinase (DMPK) PABP2 KLHL1
* Modified from Tables 1 and 2 in Cummings CI and Zoghb iHY. Hum Molec Genet 2000;9:906–16, with thanks to Dr. Homer J. Moore. † See cerebellar ataxia.
tropias
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to increase in length during replication so that each affected generation possesses a successively longer expansion. This results in genetic anticipation, wherein each generation expresses the phenotype of the disease at successively younger age. Note, however, that triplet repeat expansions can also occur within an intron, or within an altogether untranslated segment of the gene, and in these cases the resulting disease arises by some other mechanism. Expansions of runs involving other triplet combinations including thymine (T) also occur. (HJM)
triplopia The complaint that when one object is regarded, three are seen. The symptom is usually regarded as functional (especially when monocular) but sometimes is due to eye movement abnormalities such as oscillopsia or binocular diplopia. trismus (Gr, grinding) Involuntary, painful spasm of the masseter muscles leading to an inability to open the mouth. Classically, it is a sign of tetanus, but it also occurs with dystonic reactions to drugs, with local disease of the muscles or joints and in psychogenic disease. trismus nascentium Neonatal tetanus.
trisomy 8 syndrome An uncommon congenital chromosomal disorder with marked phenotypic variation. Dysmorphic facies, skeletal deformities, clino- and camptodactyly, mental and motor delay, agenesis of the corpus callosum, and the presence of deep furrows on the palms and soles are characteristic and representative findings.3 See Warkany syndrome.
trisomy 13 syndrome (Patau syndrome, chromosome 13 trisomy syndrome) An uncommon congenital chromosomal dysmorphic syndrome in which the extra chromosome is responsible for causing microcephaly, physical and mental retardation, feeding difficulties, breath-holding spells, atypical minor motor seizures with hypsarrhythmia, agenesis of the olfactory apparatus, optic atrophy, deafness, holoprocencephaly, microphthalmia, congenital cardiac and genital malformations, polydactyly, and multiple other skeletal anomalies. Numerous other associated anomalies, such as cleft lip or palate, capillary hemangiomas of the scalp, and genital anomalies, have been described in a minority of cases.5908 A report of Bartholin (a Danish physician) in 1657 was probably of the same condition.4925 trisomy 18 syndrome An uncommon congenital chromosomal dysmorphic syndrome, characterized by low birth weight, cardiac and skeletal anomalies (e.g., micrognathia, long narrow head, flexed fingers, and pelvic and foot deformities), and hypoplasia of the cerebellum, anterior commissure, and corpus callosum. Mental retardation, seizures, and spasticity are common. Most affected infants die before they are 3 months old.1812 See Edwards syndrome.
trisomy 21 syndrome See Down syndrome.
triton tumor A rare, high-grade malignant tumor of the peripheral nerve sheath showing rhabdomyosarcomatous degeneration, commonly in the context of neurofibromatosis.878
trochanter reflex The adductor reflex elicited by the vibration set up by a tap over the greater trochanter.
trochlear nerve (from Lat, a pulley) The IV cranial nerve, described by Alessandro Achillini (1463–1512), an Italian anatomist. TROG Acronym for the Test for the Reception of Grammar, an instrument for assessing language comprehension in which the child is asked to select which of four pictures best fits the verbal cue given by the examiner. Trolard, Paulin (1842–1910) Professor of anatomy in Algiers.
Trolard’s vein The great annectent vein of the cerebral cortex, described by Trolard in his graduation thesis (University of Paris) in 1868.
trombone tongue Repetitive protrusion and replacement of the tongue, seen characteristically in Huntington disease and other choreic states, but also in tertiary syphilis.
TRISS An acronym deviated from TRauma Tro¨mner reflex Flexion of the fingers
score and Injury Severity Score, noting also the age of the patient and whether the injury is blunt or penetrating, in order to provide a measure of the probability of survival. The injury scale is derived from the abbreviated trisomy 9p A relatively common injury scale booklet (AIS 1990) obtainable syndrome of mental retardation, seizures, from the Northwestern Injury Research microcephaly, short stature, kyphosis, Centre, University of Manchester, Hope other dysmorphic features, and extra Hospital, Salford England, M6 8HD. The chromosomal material on the short arm of 9, 6041 trauma score combines coded measurements of chromosome. respiration, systolic blood pressure, and the Glasgow Coma Scale to provide a general trisomy 12p syndrome A congenital assessment of physiological derangement.6908 dysmorphic syndrome manifesting hypotonia, enlarged fontanelle, turricephaly, hypertelorism, severe mental retardation, tritanopia Dominantly inherited yellowand a seizure disorder resembling blue color blindness. In a variant rare, progressive myoclonic epilepsy dominantly inherited syndrome, the accompanied by 4-Hz slow waves and tritanopia is associated with optic polyspikes on the EEG.2613 atrophy.3565, 6879
in response to a tap on the volar surface of the tip of the patients second or third finger; a sign with the same significance as the finger flexion reflex, of which it is a variant.
Tromner–Hoffman reflex See Hoffmann reflex.
trophic 1. Causing movement. 2. Stimulating growth.
trophic influences Factors causing growth or differentiation of the targeted structures. tropias Manifest deviation of the eyes (with misalignment of the visual axes), present when both eyes are viewing a target. See heterotropia, phoria.
tropical ataxic neuropathy
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tropical ataxic neuropathy See
malignant tumor in the lateral pharyngeal recess, producing facial pain and numbness, palatal paresis, and weakness of the tropical neuropathy See brucellosis, masticatory and facial muscles with due to infiltration of the leprosy, Nigerian neuropathy, HIV, HTLV, conductive deafness 6398 eustachian tube. See also pterygopalatine cassava, ciguatoxin, scombroid. Poisoning by coyotillo and gloriosa suberba may also cause fossa syndrome. acute neuropathies.6280 trouble du sens de l’e´space See visuomotor ataxia. tropical nutritional ataxia See Nigerian neuropathy.
Nigerian neuropathy.
tropical pyomyositis See pyomyositis.
tropical spastic paraparesis (HTLV-1-associated myelopathy [HAM]) An insidiously progressive paraparesis occurring in the third to fifth decades as a result of cytotoxic T-cell-mediated demyelination following infection with HTLV-1. Clinically, the major features include ‘‘burning feet’’ and later spastic gait, spastic bladder, and impotence in men. Additional features include lumbar girdle pains, leg spasticity and hyper-reflexia, myoclonic jerks, and slowly progressing loss of vibration and common sensation in the feet with paresthesia in both the hands and the feet. The ankle reflexes are diminished at a later stage.5365, 5364 The disease is more prevalent in tropical, rain-forested countries such as India, Africa, the Seychelles, Jamaica, and Colombia, but has extended with the spread of the virus elsewhere in the world. The clinical features resemble those of pure spinal multiple sclerosis.1365
tropical sprue A malabsorption syndrome of unknown cause, seen particularly in India and Africa. Clinical features include steatorrhea with xylose malabsorption, and (later) progressive muscle weakness, sensory neuropathy, and features of both tetany and subacute combined degeneration of the cord.6208
tropomyosin A protein constituent of
Trousseau, Armand (1801–1867) French physician who was trained in medicine and practiced in Paris. He introduced the procedure of tracheotomy; wrote two successful textbooks on medicine and therapeutics; and described what is now known as Hodgkin disease independently in 1864, hemochromatosis in 1859, his sign in tetany in 1861, and the occurrence of thrombophlebitis in association with a visceral carcinoma (in himself) shortly before his death.2066
instrumental phase reversal. (Adapted from the 1974 report of the Committee on Terminology, IFCN. In: Chatrian GE, Bergamini L, Dondey M, et al. A glossary of terms most commonly used by clinical electroencephalographers. EEG Clin Neurophysiol 1974;37:538–48. Reproduced by kind permission of Elsevier Science and the IFCN.)
trunk control test See motricity index.
trunk extension test The subject extends the spine while standing. Pain felt in the back, radiating to the leg, indicates the presence of root compression at lower lumbar levels.
trunkal dystonia Rare, isolated, focal dystonias affecting the trunk alone, and causing trunk flexion, extension, scoliosis, or torsion, often increased by walking.4101
Trousseau sign 1. A test for latent
trunkal incurvation See tetany; the appearance within 3 min of developmental reflexes, Galant reflex. paresthesias, muscle tightening, and carpopedal spasm distal to a blood pressure trunkal mononeuropathy See cuff inflated to 20 mmHg above the systolic diabetic truncal neuropathy. blood pressure in the arm. 2. The taˆche cerebrale. trunk-thigh sign Flexion of the thigh with elevation of a paretic leg from the bed Troyer syndrome (hereditary spastic when the subject attempts to sit up from the paraparesis with wasting and growth supine position without using his arms for retardation) A recessively inherited support. The normal response is for the legs syndrome of hereditary spastic paraparesis to remain in contact with the bed during this with onset in early childhood, complicated movement. by pseudobulbar palsy, distal muscle wasting, choreoathetosis, and short stature, trypanosomiasis (human and detected in the Amish people of 1355 African) See sleeping sickness. Ohio. true Broca aphasia See Broca
trypanosomiasis (American) See
aphasia.
Chagas disease.
true myoclonic epilepsy See
tryptophan-eosinophiliamyalgia syndrome A form of
centrencephalic myoclonic-astatic epilepsy.
eosinophilic fasciitis presenting as a
true phase reversal The occurrence of scleroderma-like syndrome, and caused by
simultaneous pen deflections in opposite muscle with contractile properties, manifest directions in two referential derivations when contacted by troponin. using a suitable common reference electrode and displaying the same wave. This Trotter, Wilfred Batten Lewis phenomenon is rarely observed in scalp (1872–1939) English physician. EEGs, but when demonstrated beyond doubt in appropriate recording conditions, it indicates a 1808 change in phase of an EEG Trotter syndrome (sinus of Morgagni syndrome) Malignant infiltration wave between adjacent areas of the brain on of the lower cranial nerves unilaterally by a either side of a zero isopotential axis. See also
the oral ingestion of tryptophan products. Whether the cause of the syndrome is the tryptophan or something in the excipient is not determined.
tryptophanuria A rare syndrome resulting from a block in the pathway of tryptophan metabolism. The clinical features resemble those of Hartnup disease and include cerebellar ataxia, dermal
tuberous sclerosis
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tuberculous granuloma See
Complications of the numerous calcifying subependymal tubers and of those scattered elsewhere in the brain tuberculous meningitis A chronic include focal neurological signs and tsara’ath See leprosy. obstructive hydrocephalus. Elsewhere in basal meningitis characterized by the usual the body, simian hands, short in-curved features of meningeal irritation, increased Tschlenow reflex See spino-adductor intracranial pressure, and involvement of the little fingers, accessory thumbs, reflex. cranial nerves, usually with a protracted but deformities of the ears, rhabdomyoma of the heart, hypernephroma, spina bifida, accelerating course culminating in death if tsiminakis syndrome Chorea. dental enamel abnormalities, cardiac untreated. The infection of the meninges tumors, honeycomb lung, renal cysts, renal proceeds from the spillage of acid-fast bacilli tsutsugamshi fever An infectious tumors, osteosclerosis, skeletal cysts, and from a small tuberculoma anywhere within disease manifesting rash, fever, 771, the nervous system. The first description was thickened calvarium may also be found. meningoencephalitis, and a positive 2460, 1323 Bourneville gave the first report that of Robert Whytt, published Weil–Felix reaction. of the disease at the Salpeˆtrie`re in 1867 and posthumously in 1768. The disease is frequently complicated by published his observations in 1880, the peripheral neuropathy, seizures, and residual same year as the condition was described by 4685 tuberous sclerosis (tuberose sclerosis, nerve deafness. See scrub typhus. Hartgeden from Germany. Pringle Bourneville disease, Bourneville–Brissaud described the skin signs in 1890. disease, Bourneville–Pringle disease, tuberculoid leprosy Brushfield–Wyatt disease, Bourneville– In a variant form, tuberous sclerosis is (maculoanesthetic leprosy) That form of the Pellizzi disease, Sherlock epiloia, Pellizzi associated with the Klippel–Trenaunay– disease in which the body’s immune response Weber syndrome in childhood. The clinical disseminated cortical dysplasia; OMIM to the bacillus is relatively successful. 5704 features then include pseudogliomas of the 191090, 1911092). A complex syndrome Clinical manifestations include raised inherited as an irregular autosomal retina, seizures, bony abnormalities, and anesthetic maculopapules involving the face, mental and developmental delay. Diagnostic dominant trait, and manifesting mental buttocks, and limb extensor surfaces and a criteria for tuberous sclerosis complex have deficiency, multifocal seizures including nodular hypertrophic multiple infantille spasms, and adenoma sebaceum. been proposed5325 and can be found at http:// 5485 mononeuropathy. See leprosy. Bourneville’s early description made all the www.tsalliance.org//pages.aspx?conten important clinical points.770 The responsible t=54/. They are summarized, without the tuberculoma (tuberculous granuloma) genes map variously to 9q34.1–9q34.2, to explanatory notes on the Web site, in Encapsulated nodules of granulation tissue 11q14–q23, or to 16p13.3. Chart T–8. which range in size from millimeters to centimeters in diameter. They are composed of acid fast bacilli; necrotic caseous material; Chart T–8. Diagnostic Features of Tuberous Sclerosis lymphoid, epitheliomatous, and plasma Major features Minor features cells; histiocytes; and giant cells, and are surrounded by a zone of vascularity in the Facial angiofibromas (best seen above the Multiple, randomly distributed pits in dental periphery.6206 Tuberculomas result from the philtrum) or forehead plaque enamel hematogenous spread of Mycobacterium Nontraumatic ungual or periungual fibroma Hamartomatous rectal polyps tuberculosis to any part in the body. In the Three or more hypomelanotic patches (best Multiple renal cysts seen with Woods light) nervous system they are usualy intracerebral Shagreen patch (connective tissue nevus) Bone cysts and supratentorial. photosensitivity, small stature, and mental retardation.1409
tuberculoma dolorosa The glomus tumor.
tuberculous alcoholic polyneuritis See Lemierre–Boltanski– Justin–Besançon syndrome.
tuberculous encephalopathy A rare syndrome of diffuse brain damage, apparently restricted to children and characterized by edema of the white matter with perivascular demyelination and sometimes hemorrhagic leukoencephalopathy. The condition is considered due to an allergic reaction to proteins released by the mycobacteria.1466
tuberculoma.
Multiple retinal nodular hamartomas Cortical tubers Subependymal nodules Subependymal giant cell astrocytoma Cardiac rhabdomyoma, single or multiple Lymphangiomyomatosis Renal angiomyolipoma
Cerebral white matter radial migration lines Gingival fibromas Nonrenal hamartoma Retinal achromatic patch ‘‘Confetti’’ skin lesions
Definite Tuberous Sclerosis Complex (TSC): Two major or one major and two minor features Probable TSC: One major and one minor feature Possible TSC: Either one major or two or more minor features. However, revised criteria (2004) require tuberous sclerosis complex-associated lesions of two or more organ systems or at least two dissimilar lesions of the same organ to be found in order to confirm the diagnosis. DNA testing complements the clinical diagnosis and allows more precise genetic counseling and perhaps prenatal diagnosis, but it carries a 15% false-negative rate, further complicated by germline mosaicism in about 2% of people with tuberous sclerosis complex. From Roach ES. et al. J Child Neurol 1988;13:624–8 and J Child Neurol 2004;19:643–9.
Tuberous Sclerosis Alliance
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Tuberous Sclerosis Alliance
tucked-lid sign Retraction of the upper medicae (1641),7 but is better remembered
A charitable organization providing support and information on this condition. Web site: http://www.tsalliance.org/. See also http://www.kumc.edu/gec/support/ tuberous.html.
eyelid, with scleral show. A finding in Parinaud syndrome. See Collier sign.
tubular constriction See gun-barrel constriction of the visual fields.
Timed motor activities:
because his anatomy lesson at the Amsterdam surgeon’s guild was painted by Rembrandt in 1631.
Tuck–McLeod syndrome
Tumarkin otolithic crisis See A sporadic disorder characterized by onset otolithic catastrophe. in childhood or middle adult life of a tubular aggregate myopathies predominantly sensory peripheral tumor (Lat, swelling) See brain tumor and polyneuropathy, cerebellar ataxia, and (myopathy with tubular aggregates) Rare, specific entries. sensorineural hearing loss without slowly progressive, dominantly or recessively 6414 distinguishing biochemical abnormalities. inherited myopathies presenting in adult tumor circoidius See arteriovenous life. Clinical complaints include cramps, malformation. Tufts Quantitative muscle stiffness, and myalgias which are Neuromuscular examination brought on by exertion and relieved by Tunbridge–Paley syndrome A 29-item protocol assessing the prolonged rest, as well as proximal muscle 2376 A recessively inherited syndrome of progressive neuromuscular deficits at various levels of the weakness and fatigability without deafness with pigmentary retinopathy, optic neuraxis in amyotrophic lateral sclerosis. The atrophy. Compact collections of tubules are commencing in seen on electron microscopy preparations in items include the results of pulmonary function atrophy, and diabetes mellitus, tests, tests of bulbar function, timed functional the first decade of life.6421 the subsarcolemmal regions of some of the muscle fibers of each type (especially type II), tests of hand activities, and measurements of isometric strength. To date, it has been used tunnel vision Symmetrical constriction associated with some type II fiber mainly in research studies (Chart T–9).200 of the visual fields as though the subject were atrophy.4484, 4485, 5356 This pathological looking down a hollow cylinder. The change may also be a feature of the familial diameter of the field is identical, whether the tullidora See buckthorn neuropathy. periodic paralyses.869 target object is close or far away, unlike the In a variant form progressive muscular physiological ‘‘funnel vision’’ in which the Tullio phenomenon Vertigo, weakness occurs with contractures and nystagmus, and postural instability induced field’s diameter increases with distance. skeletal deformity and with pupillary by high-intensity sound stimulation in abnormalities. The tubular aggregates are turban tumors See cylindromatosis. patients who are congenitally deaf or who found in both type I and type II muscle have labyrinthine fistulas. The effect is due fibers. to physical activation of the vestibular Turck, Ludwig (1810–1868) Austrian system by the sound vibrations.819, 6673 anatomist and chief of a neurology service in tubular aggregates Densely packed, Vienna, who showed in 1851 that subsarcolemmal, basophilic tubules with degeneration in a nerve fiber corresponds to the Tulp, Nicholaas (Claes Pieteszoon, doubled walls, found in type IIb direction in which it conducts impulses 1593–1674) Physician of Amsterdam who myofibrils, which stain red on trichrome physiologically, degeneration in ascending trained in Leyden. He gave the first full 4485 staining. They derive from description of spina bifida in his Observationes tracts being above the lesion and in descending proliferations of the sarcoplasmic reticulum and are detectable in a variety of diseases, including a myasthenic syndrome, Chart T–9. The Tufts Quantitative Neuromuscular Examination dominantly and recessively inherited myopathies (tubular aggregate myopathies), Pulmonary function: a syndrome of myalgias and cramps 1. Forced vital capacity; best of two trials without other pathological change,5405 2. Maximum voluntary ventilation familial and nonfamilial myopathies and Oropharyngeal: hyperornithinemia, and after poisoning 1. Time (seconds) to say ‘‘pa’’ 20 times with diazepam or alcohol.5356 2. Time (seconds) to say ‘‘pata’’ 15 times 1. Dialing 764–7172 on a spring-loaded dial phone 2. Number of pegs placed on the Purdue peg board in 30 s 3. Time (seconds) taken to walk 15 ft (4.5 m) with any aid or assistance as needed
tubulomembranous inclusion disease A progressive myopathy of youth Scores for isometric arm and leg strength (measured using an electronic strain gauge) are awarded on resembling limb-girdle dystrophy, with facial involvement, marked fatigability, and elevated serum CK levels, in which these inclusions are seen on electron microscopy preparations of muscle.2233
the basis of assessments of maximum voluntary contractions, which reliably quantitate motor unit losses (Adapted from Andres PL, Hedlund W, Finison L, et al. Quantitative assessment in amyotrophic lateral sclerosis. Neurology 1986;36:937–41. Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.)
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tracts, below it.4502 The bundle of Turck comprises the motor fibers that run from the parietotemporal cortex through the posterior limb of the internal capsule to the cerebral peduncle, and thence to the pons. Turck also described the anterior corticospinal tract in 1849 and demonstrated overlap of innervation in adjacent dermatomes.
Turcot syndrome (intestinal polyposis and glioma) A rare, genetically transmitted (dominant or recessive) syndrome, characterized by the co-occurrence of multiple colorectal tumors such as familial adenomatous polyposis, and cerebral glioblastoma or medulloblastoma.2718 turn The point of change in polarity of a waveform and the magnitude of the voltage change following the turning point. It is not necessary that the voltage change pass through the baseline. The minimal excursion required to constitute a change should be specified. (Adapted from the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.) turns analysis An automated method of analyzing EMG activity during isometric voluntary contraction whereby the number of positive and negative potential changes exceeding 100 mV is counted over a specific period. The method provides some data distinguishing primary myopathic from neurogenic muscle disease.2273
type I fiber hypotrophy with central nuclei occurrence of dull, generalized matutinal headaches, presumed to be due to the hypercapnia resulting from sleeping with the head completely under the bedclothes.2410
palsy. The occurrence of bedsores in demented patients has a negative score.[JF] The lengthy discussion of differential diagnoses (i.e., describing many conditions that could possibly be considered, all but one of which are wrong) is rather similar.
tussive syncope (Lat, cough þ Gr, faint) (Laryngeal vertigo) See cough syncope. tylosis-optic atrophy A rare syndrome of adult life consisting of thickening of the palms and soles and the twilight state (absence status, e´tat later development of optic atrophy.1658 confusionnel simple, spike-wave stupor, fugue state) A syndrome characterized by tympanic neuropathy (syndrome of prolonged confusion, diminished Jacobson’s nerve and plexus) Loss of secretion responsiveness, speech arrest, automatic behaviour, and subsequent amnesia as a result by the parotid gland as a result of damage to the nerve, usually as a result of cranial trauma.3807 of petit mal or of subconvulsive complex partial seizure (psychomotor) status. tympanic plexus neuralgia See In the former, diffuse, irregular 1.5- to glossopharyngeal neuralgia. 4-Hz multispike-wave complexes are recorded, there is no complete loss of responsiveness, and the episode represents type grouping The presence of one single prolonged attack. In the latter, the unusually large numbers of fibers (50 or episode is due to repetitive, discontinuous more) of the same histochemical type, attacks; total unresponsiveness may ensue; arranged contiguously in groups within a and the EEG patterns are variable and microscopic preparation of muscle. The include both fast and slow-wave discharges, appearance is considered to indicate the rhythmic diffuse bilateral spikes, and collateral sprouting of motor axons in cases anterior temporal sharp waves.491 Twilight of chronic motor neuropathy.3315 See fiber states may also occur as postictal type grouping. manifestations.1912 type/token ratio A measure of verbal diversification in which the number of times a twitch-convulsive syndrome A symptom of uremic encephalopathy in the particular word appears in a block of language setting of other metabolic disorders such as is expressed as its ratio to the total number of words in the block. All the words in the block delirium tremens, diabetes, and systemic are counted (Tokens), but the count of the lupus erythematosus. Clouding of number of different words is the Type. In the consciousness, seizures, and multifocal myoclonus occur, the latter in any area of the shortest and simplest sentences, in old age and body in both the waking and sleeping states. in dementia, the ratio is low (e.g., 55% would be abnormal. 300 mg/min) suggests the presence of of epileptic syndromes including frequent The finding is present in cases of denervation hypersensitivity, and an absence attacks occurring in isolation between congenital and Duchenne muscular impaired response, severe postganglionic dystrophies, various congenital myopathies, the ages of 4 and 10 years (pyknolepsy); 374 damage. The test is based on the fact typical absence epilepsy of adolescents, hypothyroid myopathy, and benign that normally the tyramine is taken up sometimes with associated tonic-clonic congenital hypotonia, and also in some by sympathetic vesicles and leads to seizures, etc.; petit mal epilepsy; myoclonic children with hypotonia without other the secretion of norepinephrine, and hence 3625 absences (clonic absences); and typical evidence of neuromuscular disease. 374 an increase in blood pressure. absence epilepsies with unusual EEG features. The latter include adversive absence, absences occurring with focal clinical features, absence fibers containing substantial amounts of with evidence of a brain lesion, and absences myoglobin and staining well for induced by visual stimuli.72 The condition dehydrogenases. ATPase stains at pH 9.4 was first described by Poupart in 1705. color these fibers poorly, but they stain dark Simple typical absences are characterized by a at pH 4.35. sudden decrease in mental functioning of type II myofibrils Fast-twitch muscle brief duration, usually 5–15 s, with abolition or diminution of awareness, responsiveness, fibers staining well for phosphorylase, and memory for the event when the subject glycogen, and a-glycerophosphate returns from this period of unawareness and dehydrogenase. ATPase stains at pH 9.4 stain these fibers dark. At pH 4.35 they are unresponsiveness. Hyperventilation and unstained and at pH 4.63, two fiber subtypes stimulation are strong precipitants. In complex typical absences, the impairment (colorless IIa and intermediate IIb) can be of consciousness is associated with motor differentiated. manifestations, including gaze deviation, head rotation, clonic jerks, or decreased type-specific atrophy Selective atrophy of type I or type II myofibrils. Type muscle tone. IIb atrophy is seen in the settings of cachectic wasting, or systemic malignancy or typical absence epilepsy of prolonged immobilization. adolescence (primary generalized epilepsy of adolescence) A syndrome of typhus A louse-borne rickettsial infection repetitive absences clustering within the hour following awakening, in which the causing generalized vasculitis. Clinical features consist of fever, headache, vomiting, attacks are shorter and less frequent than the similar syndrome in younger children, respiratory symptoms, conjunctival and sometimes without complete loss of injection, and diarrhea, followed by the contact with the surroundings. Generalized appearance of a purpuric rash.
type I myofibrils Slow-twitch muscle
tyrosine hydroxylase The ratelimiting enzyme in catecholamine synthesis.
tyrosinemia I (OMIM 276700) A rare recessively inherited disorder of aminoacid metabolism due to a deficiency of the gene for fumarylacetoacetate hydrolase, leading to hepatic disease, neuropathy, and other neurological features resembling those of porphyria.2587
tyrosinemia II A diffuse encephalopathy presenting with cataracts, skin lesions, and mental delay.4400 The responsible gene maps to 16q22.1–q22.3. See Richner–Hanhart syndrome.
tyrosinosis A recessively inherited dysmetabolic state seen in neonates, and due to impairment of hepatic tyrosine transaminase function. The condition is characterized by hepatic and renal impairment, vitamin D-resistant rickets, blepharospasm, and mental and motor delay in the survivors.6947
u U fibers The longitudinal (arcuate, from
(1853–1927) was a German physician who described the phenomenon in 1889. Lat, bow-shaped) myelinated fibers of the An inverse Uhtoff sign has been reported, cerebral cortex which course beneath the 153 sulci. They are spared in Binswanger disease, in which vision improves with warming. in some leukodystrophies, and in cerebral amyloid angiopathy. ulcerative mutilating acropathy
ubiquitin An abnormal protein
the deepest parts of the cortical wall in the sulci with relative sparing of the cortex at the surface. The abnormality may be generalized or localized, but in either case is usually a result of perinatal hypoxia.
with abnormal CSF aminoacids Ullmann Syndrome (systemic A rare variant of hereditary sensory and autonomic neuropathy.
UBOs See unidentified bright objects.
ulceromutilating acropathy See
Udorn encephalopathy A syndrome described in the population of Thailand which closely resembles Reye syndrome, but which is due to aflatoxin poisoning.4790
hereditary sensory and autonomic neuropathy.
angiomatosis) A heterogeneous syndrome characterized by the presence of cavernous and telangiectatic angiomas in the brain with associated dural abnormalities. The condition is probably a form of Osler– Rendu–Weber disease.
ulceromutilating acropathy
Ullrich muscular dystrophy
component of neuronal inclusions in Alzheimer, Parkinson, and Pick diseases.
(mutilating acropathy) The trophic changes, including impaired circulation and loss of hair, nonhealing ulceration of the skin, and infection of soft tissues and bone, occurring Uhthoff symptom (hot-bath sign) usually in the distal parts of limbs as a result Deterioration of neural function in of peripheral sensory neuropathies impairing association with a rise in local body 6439 temperature. It is seen in patients with pain sensation and autonomic functions. See hereditary sensory and autonomic demyelinating disease as a result of the neuropathy, familial amyloid neuropathy. increased conduction block occurring at Lesions of the conus medullaris and higher temperatures, and is usable as a sign central cord may do the same. Compare with of demyelination when nystagmus, motor power, or visual acuity are measured before Charcot joint (in which the damage is and after heating a patient by as little as 18C. usually more proximal). While present in many patients with multiple sclerosis, the sign is not diagnostic ulegyria (mantle sclerosis, nodular of that condition. Dr. Wilhelm Uhthoff cortical sclerosis) A localized destruction of
(atonic-sclerotic type) The second most common form of congenital muscular dystrophy; a slowly progressive form due to mutations of collagen type VI, subunits 1, 2, or 3. All are inherited as either recessive or dominant traits (the same gene as Bethlem myopathy). Typical features include presentation in the neonatal period with hypotonia, kyphosis of the spine, proximal joint contractures, torticollis, and hip dislocation. Historically there may have been reduced fetal movements. Variable weakness mainly affecting the neck and distal musculature and early hyperlaxity of distal joints are notable in infancy. Sometimes distal arthrogryposis is
Ullrich syndrome present. Congenital contractures are more proximal than distal but the long finger flexors are much affected. Spinal rigidity, kyphoscoliosis, and torticollis are also common. Respiratory insufficiency is notable even in childhood, and death occurs before the end of the second decade. The skin shows follicular hyperkeratosis, keloids, atrophic scars, striae, and petechiae. The serum CK is normal or high and the EMG is myopathic. Muscle biopsy shows varied muscle fiber size with some very small fibers and increased endomysial connective tissue.4992, 4555
Ullrich syndrome A benign form of muscular dystrophy associated with hyperexcitability in the CNS. See minimal change myopathy.
1032
potentials between the wrist and the elbow.4324 Isolated damage to the dorsal sensory branch of the nerve on the dorsum of the hand is a rarity, and almost always due to local trauma. See also all-ulnar hand. Ulnar nerve palsies sometimes occur in the perioperative period, usually after 24 h have passed; it has been thought that this is a result of poor positioning of the outstretched arm during the surgery, but postoperative compression of the nerve as a result of sitting in a chair or bed with the elbows flexed is a much more likely cause.6058
ultimum moriens The superior portion of the trapezius muscle, which Gowers considered to be remarkable in that it does not atrophy in certain myopathic states although other muscles do.
however.5383 The herniating tissue compresses the brainstem at the level of the peduncles and distorts the III cranial nerve, leading to III nerve palsy, diminution in conscious level, Cheyne–Stokes respirations, and direct compression of the same and secondary compression of the opposite cerebral peduncle, leading to ipsi- and contralateral hemiparesis with a grave prognosis.5053 Compression of the posterior cerebral artery may lead to occipital infarction, the resultant homonymous hemianopia then representing a false localizing sign.
uncinate (Lat, hooked) To do with the uncus.
uncinate fits Complex focallyoriginating seizures in which olfactory hallucinations occur as part of the pediatrician who practiced in Essen, Berlin, consciously appreciated manifestations of the and Rostock, and who described what is now ultraterminal sprouting The known as Turner syndrome and hypophosphatemic growth of neuronal shoots at the motor nerve seizure, and assumed to be due to electrical excitation of the uncus and olfactory renal rickets as well as the syndromes described terminal to innervate orphaned end-plates, 1426 The name was applied by in the adjacent entries. seen when the release of acetylcholine from cortex. Hughlings-Jackson in 1899: ‘‘There is at the the terminal is blocked, as in botulism. onset of the paroxysm a crude sensation of Ullrich–Noonan syndrome See smell or of taste or in which there are Noonan syndrome. ultraviolet keratitis See movements of chewing, smacking of the lips, photophthalmia. and sometimes spitting, etc.’’ Jackson ulnar flexion maneuver Flexion of was aware of the researches of Ferrier showing the elbow and flexion and ulnar deviation of umami The savory taste associated with that the functions of smell and taste in the wrist increase paresthesias in the fourth cured meats, Parmesan cheese, and animals are localized in the uncinate gyrus. and fifth digits in cases of ulnar nerve monosodium glutamate, additional to the usually recognized sweet, salt, sour, and entrapment beneath the flexor carpi uncrossed diplopia That form of ulnaris.2054 bitter quartet. diplopia which results from esotropia, and in ulnar nerve palsy (tardy ulnar palsy) uncal herniation (Lat, hook þ rupture) which the false image is displaced toward the Sensory deficits with weakness and wasting (lateral transtentorial herniation) Downward side of the paretic eye. See also crossed diplopia. of the muscles supplied by the ulnar nerve, displacement of the uncus and Ullrich, Otto (1894–1957) German
usually as a result of its compression in the cubital tunnel or distally, in Guyon’s canal. The former is far more common (cubital tunnel syndrome); the interossei, adductor pollicis, and hypothenar muscles are affected, and there is reduced common sensation in the ulnar palm and the ulnar 1½ digits. The Tinel sign is frequently positive at the cubital tunnel. Damage to the deep palmar branch of the nerve in Guyon’s canal occurs in carpenters, cobblers, cyclists, and others who repeatedly compress the nerve there in the course of work or play. Weakness and wasting of the interossei and adductor pollicis without hypothenar muscle involvement and without sensory changes are the characteristic findings. The most useful electrodiagnostic test compares the latencies of the median and ulnar mixed nerve action
parahippocampal gyrus through the tentorial opening due to increased intracranial pressure, as may result from an expanding mass in the temporal lobe. One of the earliest and still surely the most perfect image of uncal herniation is that engraved by Robert Hooper and published in his The Morbid Anatomy of the Human Brain (London: Longman, 1826; Plate XIII) although the artist did not comment on the appearance which was only spotted later by Sir Geoffrey Jefferson, an English neurosurgeon.
Underwood, Michael (1737–1820) English physician, pediatrician, and obstetrician, who gave the first modern account of poliomyelitis in 1789.4938 undifferentiated jargon See jargon. undulatory nystagmus See pendular nystagmus.
unformed hallucinations Visual hallucinations, the images not being recognizable as people or objects, or, in the uncal syndrome The clinical effect of case of auditory hallucinations, those in herniation of the uncus downward through which the sound heard does not resemble that the tentorium cerebelli as a result of increased from any recognized source. intracranial pressure, usually resulting from a temporal lobe mass on the same side. Lateral unidentified bright objects (UBOs) Areas of brightness on displacement of the brainstem may be as important as the downward shift, T2-weighted (long spin-echo) MRI scans
Unified Multiple System Atrophy Rating Scale
1033
Chart U–1. Unified Form for Neurological Stroke Scale
indicating the presence in those areas of high concentrations of H+ protons (i.e., water or glial cells); such areas may be multiple sclerosis plaques, infarcts, or other pathologies.
Item
Unified Batten Disease Rating Scale An instrument quantifying the
Normal/fully conscious Somnolent/drowsiness Reacts to verbal command Stupor (reacts to pain only) Coma
physical, behavioral, and functional aspects of juvenile neuroceroid lipofuscinosis. Visual acuity, fundoscopy, speech clarity, tongue protrusion, initiation and velocity of saccades, ocular pursuit, passive motion of the neck and of each limb, power in each limb, hand tapping on each side, maximal dystonia bilaterally, overall body bradykinesia, gait, tandem walking, retropulsion (pull-test), heel stomping bilaterally, motor tics, myoclonus, rest and action tremor, finger-to-nose dysmetria, and appendicular chorea are all assessed on a 0–4 scale.4109
Unified Dystonia Rating Scale An instrument for this purpose, accessible at the Web site: http://www.mdvu.org/ library/ratingscales/dystonia/TWSTRS_ 09_29_02.pdf/.
Unified Form for Neurological Stroke Scales A combination scale constituting reconciliations of the neurological scale for middle cerebral artery infarction (MCANS) and the Scandinavian stroke scale (SNSS). It also allows the generation of scores on the Canadian Stroke Scale.4810 (Chart U–1)
Unified Multiple System Atrophy Rating Scale A rating scale for multiple system atrophy including the following items:6723 I. Historical (speech, swallowing, handwriting, cutting food and handling utensils, dressing, hygiene, walking, falling [in the past month], orthostatic symptoms) II. Motor examination (facial expression, speech, ocular motor dysfunction, tremor at rest, action tremor, increased tone, rapid alternating movements of hands, finger-tapping, leg agility, heel-shin test, arising from chair, posture, body sway, and gait) III. Autonomic examination (urinary, sexual, and bowel functions; systolic and diastolic blood pressures, supine and standing for 2 min; heart rate supine and standing for 2 min; orthostatic symptoms) IV. A 5-point global disability scale.
SNSS
MCANS
6 4 2 0 0
15 10 10 5 0
10 6 3 0
10 5 5 0
No gaze/palsy/none Gaze palsy/gaze failure Conjugate eye deviation/forced
4 2 0
10 5 0
Facial Palsy: None/dubious/slight paresis Present/paralysis or marked paresis
2 0
5 0
6 5 4 2 0
10 10 5 0 0
6 4 2 0
15 10 5 0
6 5 4 2 0
15 10 5 0 0
— — —
10 5 0
— —
5 0
— —
5 0
6 4 2 0
— — — —
Consciousness:
Speech/Verbal communication: Normal/no aphasia Limited vocabulary or incoherent speech/difficult More than yes/no but not longer sentences/difficult Only yes/no or less/extremely difficult or impossible Eye movements/Eyes and head shift:
Arm: Motor power/Raising: Raises with normal strength/normal Raised with reduced strength/possible Raises with flexion in elbow/incomplete Can move but not against gravity/impossible Paralysis Hand: Motor power/Movements: Normal strength/normal Reduced strength/skilled Fingertips do not reach palm/useful Paralysis/useless Leg: Motor power/Raising: Normal strength Raises with reduced strength/against resistance Raises with flexion of knee/against gravity Can move, but not against gravity/impossible Paralysis Foot Dorsiflexion: Against resistance/normal Against gravity Foot drop Upper limb tone: Normal (even if brisk reflexes) Overtly spastic or flaccid Lower limb tone: Normal (even if brisk reflexes) Overtly spastic or flaccid Orientation: Correct for time, place, and person Two of these One of these Completely disoriented
continued
Unified Myoclonus Rating Scale
1034
unilateral jaw and masticatory spasm A focal dystonic syndrome with
Chart U–1. (continued ) Item
SNSS
MCANS onset in youth or early adult life,
Gait: Walks at least 5 m without aids Walks with aids Walks with help of another person Sits without support Bedridden/wheelchair Total
12 9 þ6 3 0
— — — — —
characterized by spasm and secondary hypertrophy of the masseters. See oromandibular dystonia.
unilateral juvenile muscular atrophy of upper limbs See monomelic amyotrophy.
(From Orgogozo JM. A unified form for neurological scoring of hemispheric stroke with motor impairment. Stroke 1992;23:1678–9, with paid permission from Lippincott, Williams and Wilkins)
Unified Myoclonus Rating Scale uniform fiber-type myopathy An instrument for this purpose, accessible at A form of muscle disorder in which the Web site: http://www.mdvu.org/library/ histochemical staining demonstrates that more than 99% of the muscle fibers belong to ratingscales/myo/UMRS.pdf/. one histochemical type.4762
unilateral lobar atrophy A form of unilateral frontotemporal atrophy causing slowly progressive aphasia without dementia, and associated with neuronal loss, gliosis, and spongiform change in the affected cortical region.3455
unilateral pursuit paresis The association of saccadic (rather than smooth)
Unified Rating Scale for Parkinsonism A popular and
unihemispheric sleep The biological pursuit when the eyes follow toward the side
comprehensive scale for the determination of disability in Parkinson disease.6044 The headers of a modified version from the Movement Disorder Society are presented in Chart U–2. See also http:// www.wemove.org/.
changes of sleep occurring in but one of the of a hemispheric lesion, and contralateral cerebral hemispheres; an attribute of homonymous hemianopia.6311 dolphins. For a human to be ‘‘half-asleep,’’ however, suggests the presence of stage 1 non–rapid eye movement sleep on both sides. unilateral spatial agnosia Massive neglect of the left half of visual space, leading to loss of topographical orientation and caused unilateral atonic seizures See by a lesion of the right parietal region. hemiparetic seizures.
Chart U–2. Revised MDS–Unified Rating Scale for Parkinsonism Part I: Nonmotor Aspects of Experiences of Daily Living Cognitive impairment Hallucinations and psychosis Depressed mood Anxious mood Apathy Features of dopamine dysregulation syndrome Sleep problems Daytime sleepiness Pain and other sensations Urinary problems Constipation problems Lightheadedness on standing Fatigue Part II: Motor Experiences of Daily Living Speech Saliva and drooling Chewing and swallowing Eating tasks Dressing Hygiene Handwriting Doing hobbies and other activities
Turning in bed Tremor impact on activities Getting in and out of bed Walking and balance Freezing Part III: Motor Examination Speech Facial expression Rigidity Finger tapping Hand movements Pronation–supination movements of hands Toe tapping Leg agility Arising from chair Gait Freezing of gait Postural stability Posture Global spontaneity of movement (body bradykinesia) Postural tremor of hands Kinetic tremor of hands Rest tremor amplitude Constancy of rest tremor
Part IV: Motor Complications Dyskinesias: time spent with dyskinesias Dyskinesias: functional impact of dyskinesias Dyskinesias: painful off state dystonia Motor fluctuations: time spent in the off state Motor fluctuations: functional impact of fluctuations Motor fluctuations: complexity of motor fluctuations The patient’s blood pressure, pulse, and weight are also to be recorded on the scoring form. The Movement Disorder Society–Unified Rating Scale for Parkinsonism (UPDRS) retains the previous UPDRS structure of four parts with a total summed score, but the parts have been modified to provide a section that integrates nonmotor elements of Parkinson disease: All items have five response options with uniform anchors.2431 The full scale is accessible at the Web site: http://www.movement disorders.org/UserFiles/New%20UPDRS%207% 203%2008%20final.pdf. See also Hoehn and Yahr Scale,2933 Columbia Rating Scale,1942 Parkinson Disease Impairment Index, and SCOPA.
upper brachial plexus palsy
1035
unimacular nystagmus See latent
2097. Web site: http://www.pdf.org/ AboutPDF/history.cfm/.
particularly ataxia and dementia.’’ The syndrome was first reported by Unverricht in 1891 and appears to occur mainly in the unimodal apraxia Any form of apraxia unloading reflex A biphasic response populations of eastern Sweden and Finland, determining the name Baltic, but it has also that is specific to actions demonstrated in a characterized by an initial reduction or been reported from distant shores. It is absence of electrical potentials recorded on single modality, e.g., visual but not the EMG, followed by an abrupt increase in probably the same condition as many (but not auditory.3540 See apraxia. all) cases of the dyssynergia cerebellaris electrical activity, when a muscle is 6221 Lundborg contracted against an external load and the myoclonica of Ramsay Hunt. uniocular nystagmus Vertical 148 contributed by adding new cases, load is then suddenly removed. oscillations of one eye in association with demonstrating autosomal recessive inheritance, long-standing visual loss. The amplitude of and confirming that the disease is indeed the oscillations ranges from 3 to 508 and the unprovoked seizures of progressive. Lafora contributed by identifying 1265 frequency from 0.1 to 5 Hz, inversely unknown etiology Cases of 5125 the presence of intracytoplasmic inclusions correlated with the amplitudes. unprovoked seizures for which no clear (Lafora bodies) within the nervous system. antecedent etiology can be detected. One Myoclonic encephalopathy with progressive unipolar See referential derivation. form comprises the idiopathic epilepsies, which cranial nerve palsies and a form with younger are defined by the ILAE as certain partial or onset mapped to chromosome 12 unipolar needle electrode See generalized epileptic syndromes with (EPM1B)570 are variants. monopolar needle recording electrode. particular clinical characteristics and with See also progressive myoclonic ataxias, specific EEG findings; the term should not dentate-rubropallidoluysian atrophy. United Cerebral Palsy be used to refer to epilepsy or seizures Association A charitable organization. without obvious cause. Address: 1522 K Street NW Suite 1112, Unverricht–Wagner syndrome Washington, DC 20005. Tel: 202-842Unverricht, Heinrich (1853–1912) See dermatomyositis. 1266; 202-842-3519. Web site: http:// German physician, practicing in Jena, www.ucpa.org/. Austria. His graduating thesis, in which he upbeat nystagmus A form of central vestibular jerk nystagmus in which the fast asserted that all seizures required the United Cerebral Palsy presence of cortex, aroused great interest and component is upward and which is present in Association A charitable organization in within 6 years he had been appointed the primary position but increases on upward gaze. Defective upward pursuit but this field. Web site: http://www.ucpa.org/. professor of medicine at Dorpat. He published his account of familial myoclonic intact vestibulo-ocular movements are characteristic accompaniments. Bilateral United Leukodystrophy epilepsy in 1891. lesions of the ventral tegmental pathways at Foundation A charitable association in the pontomesencephalic junction or in the this field. Web site: http://www.ulf.org/. Unverricht–Lundborg–Lafora caudal brainstem close to the syndrome (Lafora body epilepsy, perihypoglossal nuclei and lesions of the United Mitochondrial Disease Unverricht–Lundborg disease, Baltic or anterior vermis are most commonly Foundation A charitable organization Nordic myoclonus, myoclonic incriminated.3362, 5181 promoting research and providing support encephalopathy with progressive cranial to families of people with nerve palsies, progressive familial myoclonic up-gaze palsy Failure of conjugate mitochondriopathies. Address: P.O. Box epilepsy, progressive myoclonic epilepsy 568, 6449 upward deviation of the eyes as a result of a 1151, Monroeville, PA 15146-1151. Tel: type 1 [EPM1] OMIM 254800) A pretectal lesion in which the posterior 412-856-1297. Web site: http:/ recessively inherited mitochondrial commissure is damaged. Other features of the biochemgen.ucsd.edu/umdf/. encephalomyelopathy presenting between the ages of 6 and 16 years with tonic–clonic Parinaud syndrome are usually present as well. United Mitochondrial Disease seizures; spontaneous, stimulus-sensitive and Foundation An American charitable action myoclonus (cortical myoclonus); drop upper airway resistance association promoting research and attacks, ataxia; rigidity; cerebellar signs; and, syndrome Anatomical constriction of the airways at levels above the larynx, supporting families of people with later, ataxia, incoordination, intentional considered relevant in the genesis of some mitochondriopathies. Web site: http:// tremor, dysarthria, and progressive mental 113 biochemgen.ucsd.edu/umdf. deterioration. Repetitive morning myoclonus cases of idiopathic hypersomnia. is common. The biochemical cause is unknown but one responsible gene maps to chromosome upper brachial plexus palsy (Erb United Parkinson Foundation 21q22.3 (EPM1) and another to chromosome palsy, cadet palsy, Duchenne–Erb palsy, An organization dedicated to funding 12 (EPM1B). This is the commonest cause of rucksack palsy, knapsack palsy, pallbearers’ research on Parkinson disease, publishing palsy) Weakness and atrophy of the muscles educational materials for patients and health progressive myoclonic epilepsy.3280 care professionals, and providing support for The Marseilles consensus group defined the supplied by C5–6 through the upper trunk of patients with the disease. It is based at Saint condition as follows: ‘‘Myoclonus with epileptic the brachial plexus, leading to the posture of the arm described as the ‘‘porter’s tip’’ Louis University, St. Louis, MO 63103seizures and progressive neurological decline,
nystagmus.
upper motor neuron lesion position. It is commonly caused by violent falls on the shoulder, excessive traction on the head during delivery, or direct injury to the upper fibers of the brachial plexus.1896 Erb’s name is popularly attached to this condition, although he attributed its delineation to Duchenne, whose adequate account had been provided 19 years before.5729 Another, by William Smellie, a Scottish obstetrician, had been published in 1768.
1036
herniation of the cerebellar tonsils precede the upward movement. Clinically, the patients are in coma with unreactive miotic pupils, loss of vertical doll’s head movements, asymmetrical or absent caloric responses, and decerebrate posturing.1380
wasting and weakness reflect large-fiber involvement. Autonomic features include postural hypotension, impaired sweating, diarrhea, constipation, and/or impotence. Chronic hyperkalemic depolarization is the most likely mechanism.262, 3567
Urbach–Wiethe disease
urethral crisis Acute paroxysms of pain
(hyalinosis cutis et mucosae) A rare, recessively inherited lipid storage disorder, characterized by hoarse voice, waxy infiltration of the skin and mucous upper motor neuron lesion (pyramidal lesion, corticospinal tract lesion) membranes, skin nodules over the upper A lesion of the descending motor pathways body, photosensitivity, alopecia, short stature, ocular and dental abnormalities, between the cortex and the brainstem or spinal cord, producing a relatively constant intracranial calcifications, seizures, rage syndrome of postural disturbance, increased attacks, and memory disturbances without other evidence of tone (spasticity), decreased power especially (sometimes4653 dementia). Although some of the in the arm extensors and the leg flexors, children have little cognitive abnormality, hyperreflexia of the muscle stretch reflexes they differ emotionally and in their and loss of superficial reflexes, and an judgment of all emotions in facial upgoing plantar (positive Babinski) expressions from their peers.5828 The response. Both the corticospinal and the manifestations reflect damage in the corticoreticulospinal pathways are amygdaloid region, usually symmetrically. considered to be involved. A variant is an hereditary small vessel The alternative term pyramidal lesion is used synonymously, but could be considered disease of the brain, its mutated gene distinct from NOTCH3, and a potential cause of inappropriate in those cases in which the lacunar infarcts with leukoaraiosis.6535 See lesion affects the corticopontine fibers, because obviously these do not go as far as also lipoid proteinosis. the pyramids. Lesions of the extrapyramidal ureal diabetes See diabetes insipidus. pathways are also upper motor neuron lesions, but the syndrome resulting is different and by convention such disturbances uremic encephalopathy Diffuse cerebral dysfunction occurring in the context are not included under this heading. On of acute or chronic renal failure, but more electromyographic examination of weak severe in the former, and presenting with muscles, there is slow motor unit action fatigue, impaired concentration, clumsiness potential firing at maximal effort. leading to asterixis, myoclonus or generalized seizures, confusion, and eventual upper syndrome of the brainstem tegmentum Infarction coma. In the chronic form, lability of mood, asthenia, inverted sleep rhythms, and of the nucleus of the IV cranial nerve, and impaired frontal lobe functions are the most perhaps of the III; with superior cerebellar common findings. peduncle and medial lemniscus involvement. uremic myopathy A syndrome of proximal weakness and wasting with upside-down ptosis The elevation of myopathic EMG findings, occurring in the lower lid accompanying drooping of the patients with chronic renal failure.2131 upper lid in Horner syndrome.
uremic polyneuropathy A distal, symmetrical axonal neuropathy often complicating end-stage kidney disease (glomerular filtration rates less than 12 ml/ cerebellum through the tentorial incisura, usually due to a cerebellar tumor, abscess, or min), typically presenting with slowly progressive involvement of the legs more hemorrhage, but lesions of the cerebellopontine angle, pons, or medulla may than the arms. The paresthesias, diminished muscle stretch reflexes, occasionally be responsible. Forward compression of the brainstem and downward impaired vibration sense, and muscle
upward transtentorial herniation Upward herniation of the
felt along the course of the urethra in patients with tabes dorsalis.
urethral reflex The fancied gripping of a catheter or sound passed into the penile lumen. The mechanism and purpose of this reflex are equally obscure. urogenital triangle The anatomical space whose floor is the deep transverse perineal muscles and the external sphincter, forming the urogenital diaphragm. On each side are the bulbocavernosus (perineal nerve) and ischiocavernosus muscles, while the base is formed by the superior transverse perineal muscles. useless hand (useless arm) Lack of control of the hand or arm as a result of rigidity, dystonia, apraxia, or akinesia with sensory deafferentation, despite the retention of normal power. It is described in multiple sclerosis affecting the posterior columns at cervical level and can also be a presenting feature in corticobasal degeneration. The condition was first described by Oppenheim in 1910.1247, 4066
Usher syndrome (Hallgren syndrome, recessive retinitis pigmentosa with congenital deafness) The recessively inherited combination of progressive visual loss resulting from retinitis pigmentosa (tapetoretinal degeneration), moderate to severe congenital sensorineural deafness, vestibular impairment, cerebellar atrophy, and mental retardation or other mental disorders.3515, 6454 Both severe (type 1) and mild (type 2) forms of the condition are described. Although vision is preserved until later life and there are no vestibular symptoms in the type 2 form, it is uncertain whether this is a single condition or more than one.4229 utilization behavior A disturbance in the response to external stimuli, which indicates an exaggerated and disinhibited dependency on the environment for behavioral clues, and which indicates the presence of damage to one or both frontal lobes, with loss of frontal inhibition of
uveoparotid fever
1037
posterior perceptual and perceptuomotor processing.3826 Paramedian thalamic infarcts have also been described as leading to this behavior. Such activity can be considered as an extension of bimanual grasping behavior (magnetic apraxia), in which the patient appears compelled to grasp and use any object presented visually or through touch; it is associated with unior bilateral lesions of the frontal lobe. See also forced hyperphasia.
inflammatory disorder comprising uveitis or sympathetic ophthalmia, dysacousis, alopecia, leukoderma, whitening of the eyelashes and eyebrows, and acute encephalitic and fluctuating meningitic signs.6560 The initial acute meningitic phase may be complicated by delirium, cranial nerve palsies and other pareses, and loss of sphincter control, and is accompanied by pleocytosis of the CSF. Acute bilateral uveitis with widely dilated pupils then supervenes and retinal detachment and utilization time See latency of acute glaucoma may ensue. Decreased activation. visual acuity, macular edema, papillitis, and visual field defects are common utricle A part of the labyrinthine findings. The remaining systemic structures, with the saccule and semicircular features of the disease, listed above, canals. It contains specialized sensory appear during the convalescent phase. epithelium from which the hair cell Abortive forms also occur.5 Sarcoidosis is processes project into mucilaginous material an important cause of the within it, where they are stimulated by the uveomeningitic syndrome (without the movement of otoliths. encephalitis); Behc˛et disease, syphilis, Wegener granulomatosis, and viral uveal tract The iris, ciliary body, and infections are others. Other choroid in the eye. uveomeningeal syndromes occur in acute or chronic infections and in multiple uveitis Inflammation of the uvea; sclerosis, in primary CNS lymphoma, or classified as anterior (inflammation of the iris as a paraneoplastic syndrome associated and/or the ciliary body, i.e., iritis, cyclitis, with breast carcinoma. iridocyclitis) and posterior (inflammation of Vogt gave the first modern report in the choroid, i.e., choroiditis). 1906, but the condition was described in part at least by Ali-ibn-Isa (940–1010), an uveomeningitic syndrome See Arabian physician.4936 The clinical features uveomeningoencephalitic syndrome. and stages have been delineated3091 and are given in Chart U–3.
uveomeningoencephalitic syndrome (Vogt–Koyanagi–Harada
uveoparotid fever A variety of
syndrome) A rare multisystem
sarcoidosis. See Heerfordt syndrome.
Chart U–3. Stages of Uveomeningoencephalitic Syndrome I. Early acute stage (uveoauditomeningitis) 1. Bilateral uveitis Loss of visual acuity Cells in the anterior chamber Exudative retinal detachment Multifocal dye leakage from retinal pigment epithelium on angiography 2. Auditory disturbance Auditory disturbance Tinnitus, vertigo Nerve deafness 3. Meningitis Meningitis Headache, nausea CSF pleocytosis II. Recovery stage (oculodermal depigmentation) 1. Ocular depigmentation Depigmentation of the iris Depigmentation of the ciliary body Sunset glow fundus Dalen–Fuchs nodules Multiple window defects of retinal pigment epithelium with angiography Perilimbal vitiligo (Sugiura sign) 2. Dermal depigmentation Poliosis in eyebrow and eyelash Alopecia Vitiligo of face, chest, hands, and back Adapted from Inomata H, Kato M. VogtKoyanagi-Harada disease. In: Bruyn GW, Vinken PJ, eds. Handbook of Clinical Neurology, pp. 611–626. Reprinted with kind permission from Elsevier Science.
v V pattern deviation A nonparalytic form of horizontal strabismus or tropia in which the visual axes are directed to closer objects (esotropia) as the subject looks down, or separate (exotropia) as the subject looks up. The phenomenon is described in patients with mesencephalic lesions. See also A pattern deviation.
V wave See vertex sharp transient. vacor An organophosphate rodenticide capable of inducing neuropathy and neuromuscular junction disease. vacuolar myelopathy See HIV-associated myelopathy.
vacuolation of muscle fibers without necrosis but with excessive autophagy. In a second form, cardiomyopathy and mental retardation are associated.297 See also hereditary inclusion body myopathy, a form in which the quadriceps muscles are spared.
focal origin, Lennox–Gastaut syndrome, and depression.
vagal syncope See carotid sinus syncope.
vaginismus Retentive spasm of the vagina, described by a certain Y. Davis. Davis was supposed at the time to be a real 604004) A rare, recessively inherited person but in fact the name was the leukodystrophy with infantile onset, characterized by diffuse swelling of the white pseudonym of Sir William Osler in mellow mood. The condition, fortunately, does not matter, large subcortical cysts, and exist either. megalencephaly. The condition has been 6351 mapped to chromosome 22qtel.
vacuoliting megalencephalitic leukoencephalopathy (OMIM
vagoaccessory syndrome vagal neuralgia A form of neuralgia
See Schmidt syndrome.
resembling glossopharyngeal neuralgia, but in which the pain is felt in the throat and vagus nerve (pneumogastric nerve) muscle in which the occurrence of laryngeal regions. A mixed nerve, supplying the entire cranial widespread irregular vacuoles with a wellparasympathetic outflow as well as having defined wall is the major or the only somatic motor and sensory functions. It was histological abnormality. Such myopathies vagal stimulation A technique described by Marinus in about 100 A.D. as include those due to glycogen storage whereby chronic stimulation of one vagus the VI cranial nerve and was known to Galen, diseases, familial periodic paralysis, steroid nerve by an implanted electrode is used to but was named by Domenico di Marchetti of myopathy, and myopathies complicating reduce the frequency of generalized and collagen vascular diseases. A recessive partial epileptic seizures. The precise mode Padua (1626–1688). The nerve’s long course and wide distribution led to the derivation of X-linked form is also described, with of action of this intervention remains juvenile onset, slow progression of proximal undetermined, but it appears to be effective the name from the Latin word vagari (a myopathic weakness. Pathologically there is for the treatment of uncontrolled seizures of wanderer).
vacuolar myopathies Disorders of
van Bogaert–Scherer–Epstein syndrome
1039
Vail neuralgia See Vidian neuralgia,
this results in a substantial rise in intrathoracic pressure and a transient increase in blood pressure (phase 1); a reduction in venous return to the heart and Vail vidian neuralgia See cluster in blood pressure with an increase in the headache. pulse rate (phase 2); further increase in pulse rate and decrease in blood pressure occurring valgus Having the calf of the leg bent immediately after the pressure is released outward. ‘‘Applied originally to a bowlegged man, the meaning [became] reversed (phase 3); and a restitution of blood pressure and the term ‘genu valgum’ is now used for a after an initial overshoot, with a fall in pulse rate, following this (phase 4). Absence of any knock-kneed person.’’5886 of these changes suggests disturbance in the parasympathetic system. See autonomic Valleix points 1. Local areas of function tests. tenderness along the course of peripheral nerves both proximal and distal to a site of Valsalva ratio A test of baroceptor compression, which persist between afferent and both sympathetic and 6461 paroxysms of neuralgia. 2. Regions parasympathetic efferent functions. The where nerves are accessible to palpation. As is maximum heart rate generated by the known to exponents of oriental martial arts, Valsalva maneuver is divided by the such points are extremely sensitive to minimum heart rate occurring within 30 s of pressure, but, in cases of nerve irritation or the maximum, measured by a continuously neuralgia, even light pressure may be running EKG. The ratio of the longest R-R agonizing, which suggests the presence of interval to the shortest should be 1.45 or such nerve pathology. more in healthy young people. The measurement is more accurate using invasive Valleix sign Tenderness of the sciatic techniques.4252 See also thirty:fifteen ratio, nerve in the buttock or posterior thigh. The autonomic function tests. sign is said to be positive with root irritation, but muscle tenderness is easily confused with Van Allen, Maurice (1918–1986) nerve pain at that site. American neurologist, born in Iowa, where
cluster headache.
he received his early training in medicine, who before and again after wartime service (1807–1855) French physician who trained trained in neurosurgery and neurology, in Toulouse and Paris, but whose although his practice was in the latter advancement in the Paris hospitals was discipline. He became professor at the disappointing, although he published over a University of Iowa in 1965 and later hundred papers before his early death from chairman of the department. His greatest diphtheria contracted from a patient. He impact was as editor of the Archives of described the points on nerves, now named Neurology from 1976, but his introductory for him, in his book Traite´ des ne´vralgies ou text on the neurological examination was affections douloureuses des nerfs (Paris, 1841). also hugely successful. See also familial amyloid neuropathy (type III).
Valleix, Franc¸ois-Louis-Isidore
Valsalva, Antonio Mario
(1666–1723) Italian anatomist who trained in Bologna, where he was later professor of anatomy. In 1704 he described the increase in intrathoracic pressure as a means to express pus from the middle ear in otitis. Valsalva also observed that hemiparesis occurs on the side opposite to a hemispheric stroke.
Figure V–1 Ludo Van Bogaert
publications to the literature and was the founder and president of the World Federation of Neurology.
van Bogaert syndrome (Divry–van Bogaert syndrome, corticomeningeal diffuse angiomatosis, Hozay–Van Bogaert syndrome) A recessively inherited or sporadic syndrome of mental retardation, seizures, spastic paraparesis, extrapyramidal disorders, hemianopia, marbled skin, and telangiectasia6470 associated with diffuse, noncalcifying angiomatosis of the cortex and meninges and demyelination of the centrum semiovale,2290 resembling the changes in Binswanger disease. Death usually occurs within 20 years of presentation.
van Bogaert–Bertrand disease
subacute sclerosing panencephalitis.
The same condition as Canavan disease. See glial degenerations, glioneuronal degenerations.
van Bogaert, Ludo (1897–1989)
van Bogaert–Divry syndrome
van Bogaert encephalitis See
Belgian neurologist who trained in Brussels and who later studied in Paris under Pierre Marie and Marcel Labbe´. His graduation thesis was on the mental changes that occur in amyotrophic lateral sclerosis. He practiced as a neurologist and Valsalva maneuver Forcible neuropathologist in Belgium, developing a expiration against a closed glottis, as by exhaling hard against resistance, leading to special interest in neurometabolic disorders, an increase in intrathoracic pressure to about multiple sclerosis, and hypothalamic 30–40 mmHg, usually maintained for 10 s tumors, as well as the subjects suggested by in the test situation. In the normal subject, the following entries. He contributed 753
See Sturge–Weber syndrome, van Bogaert syndrome.
van Bogaert–Nissen–Pfeiffer syndrome See metachromatic leukodystrophy.
van Bogaert–Scherer–Epstein syndrome See cerebrotendinous xanthomatosis.
van Buchem syndrome
van Buchem syndrome See hyperostosis corticalis generalisata familiaris. van Deen, Isaac (1805–1869) Danish physician who graduated from the University of Leyden in Holland. An ingenious experimenter, he demonstrated that in frogs the posterior columns of the cord carry sensory impulses and the anterior columns motor impulses, conclusions which assisted Brown-Se´quard in the elucidation of the basis of cord lesions. He was eventually appointed professor of physiology at Groningen.3511
1040
vapours A term commonplace in Victorian England for a state of reluctance to engage in any exertion on account of a sense of extreme fatigue; and also used for presyncope, usually with an emotional cause. In those days, such affections were considered evidence of the most exalted sensibility. Today, see chronic fatigue syndrome.
variant Creutzfeldt–Jakob disease (vCJD) See Creutzfeldt–Jakob disease. A Web site containing collected resources from the British Medical Journal, with links to scientific papers from other journals, is at http://www.bmj.com/cgi/ collection/mad_cow/.
van der Hoeve phakomatosis 1. (Ekbom–Lobstein syndrome) A dominantly inherited cochleovestibular atrophy with onset between 10 and 30 years of age, and manifesting progressive conductive deafness, blue sclerae, and the other features of osteogenesis imperfecta.6482 2. Pediculate tumors on the optic nerve head associated variously with Sturge–Weber disease, tuberous sclerosis, von Hippel–Lindau disease, and neurofibromatosis, described by van der Hoeve (1878–1952), a Dutch ophthalmologist and professor at Leyden.2934
van der Hoeve syndrome See Apert syndrome.
van der Hoeve–Halbertsma– Waardenburg–Klein syndrome See Waardenburg syndrome.
van der Kolk’s law The sensory fibers of a mixed nerve are distributed to parts that are moved by muscles supplied with motor fibers from the same nerve.
van Dyke–Hanson syndrome A rare syndrome of contractures with continuous muscle discharges, titubation, and episodic ataxia. See hereditary myokymia with periodic (episodic) ataxia.
vanillylmandelic acid The product of the metabolism of norepinephrine, used as a marker of norepinephrine production as it is a stable substance and is freely excreted in the urine.
vanishing white matter disease See fatal infantile leukodystrophy.
tachycardia, hypertension, and often seizures and delirium.
Variot–Pironneau senile dwarfism See progeria. Varoli, Costanzo (1543–1575) Italian anatomist, who described the pons (in a book published posthumously in 1591) and also named the hippocampus. varus Bent or grown inward, knock-kneed (Lat), but the meaning is now reversed and the term is used to describe bowleggedness.5886 See also valgus. vascular cognitive impairment (vascular dementia, multi-infarct dementia,
variant hereditary motor and progressive cognitive disturbance due to sensory neuropathy The association thromboembolic cerebrovascular disease)
of retinitis pigmentosa, ataxia, and peripheral neuropathy without any increase in the serum phytanic acid level. Sensorineural deafness and radiological evidence of cerebellar atrophy are occasional features. Sensory conduction is more affected than motor conduction. Biopsy specimens show a reduction of myelinated fibers without onion bulb formations. The cases reported resemble Refsum disease (hereditary motor and sensory neuropathy, type 4) but have neither detectable biochemical abnormality nor peripheral nerve hypertrophy.6414
The vascular component of all dementias and the only treatable element of a disease that has a highly significant impact on the health of older adults at risk of both strokes and coronary artery disease. Other forms of cerebrovascular disease such as hypoperfusion, subdural hematoma, vasculitis, and subarachnoid hemorrhage are equally capable of leading on to cognitive impairment, and the same may be true for states of chronically impaired cardiac output. Erkinjuntti et al.1907 regard vascular dementia as that form in which there is a history of focal or acute signs and symptoms varicella-zoster myelitis A selfreferable to disturbed cerebral circulation, and limiting motor paraparetic syndrome, they suggest the following subcategories: sometimes with a relapsing–remitting Vascular dementia of hemodynamic type is that course, with variable sensory and sphincter form of dementia evolving in connection with involvement, occurring after acute varicella cardiac arrhythmias and systemic hypotension. or zoster infection and considered to be on Probable vascular dementia is that form clinically the basis of a postinfectious myelitis. More considered to be related to disturbances of the severe and acute syndromes are also cerebral circulation without any clear temporal described.2378 connection with the evolution of the dementia, and without evidence of multiple vascular variegate porphyria A dominantly lesions on the CT scan. This group includes patients with combined degenerative and inherited form of porphyria in which protoporphyrin is not converted into heme vascular dementias. Multi-infarct dementia is and coproporphyrin is continuously excreted that form which evolves in connection with in the stools. The disorder is commonest in acute neurological symptoms and signs and/or CT scan findings indicating multiple cortical South Africans (Afrikaaners).5370, 1322 Neurological features complicate some acute or deep vascular lesions of the brain. For dementia to result from vascular attacks, and include the acute or subacute disease, it is estimated that at least 100 ml of occurrence of proximal motor neuropathy affecting the arms more than the legs (often brain tissue has to have been destroyed. A high Hachinski ischemic score may be asymmetrically) and also the face and helpful in predicting the presence of cerebral autonomic system, in the setting of other infarcts, but does not predict the pathology features of the disease, including skin photosensitivity, abdominal pain, vomiting, causing the dementia in any given case.5589
vascular malformations
1041
There are no clinical clues to the presence of vascular as opposed to other pathologies to be gleaned from the features of the dementia itself. Two of at least five sets of criteria extant for the diagnosis (CERAD,4396 APADSM,172 Hachinski,2663 Chui et al.,1173 and the NINCDS-AIREN Workshop5366)
are presented in Charts V–1 and V–2; the critique of Drachman1706 should be imbibed prior to their ingestion. A suggested data collection form has been published.5345
vascular dementia See vascular cognitive impairment.
vascular malformations Collections of abnormal blood vessels of various sizes, most often found in the cerebral lobar white matter, and ranging in size from small capillary telangiectasias through venous and cavernous angiomas to arteriovenous malformations. They represent occasional causes of
Chart V–1. Criteria for the Diagnosis of Vascular (Dementia) Cognitive Impairment Vascular dementia (VaD) is a complex disorder characterized by cognitive impairment resulting from ischemic or hemorrhagic stroke or from ischemic-hypoxic brain lesions. The clinical criteria for the diagnosis of probable, possible, and definite VaD are summarized: I. Criteria for the clinical diagnosis of Probable VaD include all of the following: 1. Dementia defined by cognitive decline from a previously higher level of functioning and manifested by impairment of memory and of two or more cognitive domains (orientation, attention, language, visuospatial functions, executive functions, motor control, and praxis), preferably established by clinical examination and documented by neuropsychological testing. Deficits should be severe enough to interfere with activities of daily living, not due to physical effects of stroke alone. Exclusion criteria include cases with disturbance of consciousness, delirium, psychosis, severe aphasia, or major sensorimotor impairment precluding neuropsychological testing. Also excluded are systemic disorders or other brain diseases such as AD that in and of themselves could account for deficits in memory and cognition. 2. CVD defined by the presence of focal signs on neurological examination consistent with stroke, with or without a history of stroke, and evidence of relevant CVD by brain imaging (CT or MRI), including multiple large vessel infarcts or a single strategically placed infarct (angular gyrus, thalamus, forebrain, or posterior or anterior cerebral artery territories) as well as multiple basal ganglia and white matter lacunes or extensive periventricular white matter lesions or combinations thereof. 3. A relationship between the above two disturbances manifested by one or more of the following: (a) onset of dementia within 3 months following a recognized stroke; (b) abrupt deterioration in cognitive functions; or fluctuating, stepwise progression of cognitive deficits. II. Clinical features consistent with the diagnosis of Probable VaD include the following: 1. 2. 3. 4. 5.
Early presence of a gait disturbance (small step gait or marche a` petits pas, or magnetic, apraxic-ataxic or parkinsonian gait); History of unsteadiness and frequent, unprovoked falls; Early urinary frequency, urgency, and other urinary symptoms not explained by urologic disease; Pseudobulbar palsy; and Personality and mood changes, abulia, depression, emotional incontinence, or other subcortical deficits including psychomotor retardation and abnormal executive function.
III. Features that make the diagnosis of VaD uncertain or unlikely include: 1. Early onset of memory deficit and progressive worsening of memory and other cognitive functions, such as language (transcortical sensory aphasia), motor skills (apraxia), and perception (agnosia), in the absence of corresponding focal lesions on brain imaging; 2. Absence of other focal neurological signs other than cognitive disturbance; and 3. Absence of cerebrovascular lesions on brain CT or MRI scans. IV. Clinical diagnosis of Possible VaD may be made in the presence of dementia (Section I-1) with focal neurological signs in patients in whom brain imaging studies to confirm definite CVD are missing; or in the absence of clear temporal relationships between dementia and stroke; or in patients with subtle onset and variable course (plateau or improvement) of cognitive deficits and evidence of relevant CVD. V. Criteria for the diagnosis of Definite VaD are as follows: 1. 2. 3. 4.
Clinical criteria for probable vascular dementia; Histopathological evidence of CVD obtained from biopsy or autopsy; Absence of neurofibrillary tangles and neuritic plaques exceeding those expected for age; and Absence of other clinical or pathological disorder capable of producing dementia.
VI. Classification of vascular dementia for research purposes may be made on the basis of clinical, radiological, and neuropathologic features for subcategories or defined conditions such as cortical vascular dementia, subcortical vascular dementia, Binswanger dementia, and thalamic dementia. The term AD with CVD should be reserved to classify patients fulfilling the clinical criteria for possible AD and who also present clinical or brain imaging evidence of relevant CVD. Traditionally, these patients have been included with VaD in epidemiological studies. The term mixed dementia, used hitherto, should be avoided. AD, Alzheimer disease; CVD, cerebrovascular disease; VaD, vascular dementia. (Adapted from Roma´n GC, Tatemichi TK, Erkinjuntti T, et al. Vascular dementia: diagnostic criteria for research studies. Neurology 1993;43:250–60. Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.)
vascular thoracic outlet compression syndrome
1042
Chart V–2. Diagnostic Criteria for Ischemic Vascular Cognitive Impairment Probable ischemic vascular dementia A. The criteria for the clinical diagnosis of probable IVD include all of the following: 1. Dementia; 2. Evidence of two or more ischemic strokes by history, neurological signs, and/or neuroimaging studies (CT or T1-weighted MRI); or occurrence of a single stroke with a clearly documented temporal relationship to the onset of dementia; 3. Evidence of at least one infarct outside the cerebellum by CT or T1-weighted MRI. B. The diagnosis of probable IVD is supported by: 1. 2. 3. 4.
Evidence of multiple infarcts in brain regions known to affect cognition; A history of multiple transient ischemic attacks; History of vascular risk factors (e.g., hypertension, heart disease, diabetes mellitus); Elevated Hachinski ischemia scale (original or modified version).
C. Clinical features that are thought to be associated with IVD, but await further research, include: 1. Relatively early appearance of gait disturbance and urinary incontinence; 2. Periventricular and deep white matter changes on T2-weighted MRI that are excessive for age; 3. Focal changes in electrophysiological studies (e.g., EEG, evoked potentials) or physiological neuroimaging studies (e.g., SPECT, PET, NMR spectroscopy). D. Other clinical features that do not constitute strong evidence either for or against a diagnosis of probable IVD include: 1. Periods of slowly progressive symptoms; 2. Illusions, psychosis, hallucinations, delusions; 3. Seizures. E. Clinical features that cast doubt on a diagnosis of probable IVD include: 1. Transcortical sensory aphasia in the absence of corresponding focal lesions on neuroimaging studies; 2. Absence of central neurological symptoms/signs, other than cognitive disturbance. Possible ischemic vascular dementia A clinical diagnosis of possible IVD may be made when there is 1. Dementia; and one or more of the following: 2a. A history or evidence of a single stroke (but not multiple strokes) without a clearly documented temporal relationship to the onset of dementia, or 2b. Binswanger’s syndrome (without multiple strokes) that includes all of the following: i. Early-onset urinary incontinence not explained by urological disease, or gait disturbance (e.g., Parkinsonian, magnetic, apraxia, or senile gait) not explained by peripheral cause; ii. Vascular risk factors; and iii. Extensive white matter changes on neuroimaging. Definite ischemic vascular dementia A diagnosis of definite IVD requires histopathological examination of the brain, as well as 1. Clinical evidence of dementia; 2. Pathological confirmation of multiple infarcts, some outside of the cerebellum. If there is evidence of Alzheimer disease or some other pathological condition that is thought to have contributed to the dementia, a diagnosis of mixed dementia should be made. [But see footnote to Chart V–1] IVD, ischemic vascular cognitive impairment. (Adapted from Chiu HC, Victoroff JI, Margolin D, et al. Criteria for the diagnosis of ischemic vascular dementia proposed by the State of California Alzheimer’s disease diagnostic and treatment centers. Neurology 1992;42:473–80. Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.)
intraparenchymal or intraventricular hemorrhage in the CNS (especially in younger patients) but are often asymptomatic.
vascular thoracic outlet compression syndrome See thoracic outlet syndrome.
vasculitic neuropathy Painful mononeuropathies, multiple mononeuropathies, or polyneuropathies associated with systemic vasculitic diseases.5582 A review of the many causes of the syndrome has been published.5582 These have been classified by Scott.5687 HIV infection and hepatitis are prominent causes.
Diagnostic criteria for clinically probable vasculitic neuropathy in patients lacking biopsy-proven necrotizing vasculitis have been suggested.1257 and are reproduced below. Common to all is necrotizing arteritis of the epi- and perineurial vessel walls with nerve fiber loss, Wallerian degeneration, and
vasovagal (vasodepressor) syncope
1043
electrodiagnostic evidence of regions of conduction block. The diagnosis requires at least three of the first five criteria for nonsystemic vasculitic neuropathy; criterion 6 is also mandatory for systemic vasculitis. 1. Clinical presentation typical for a vasculitic neuropathy Asymmetric or multifocal, painful, sensorimotor neuropathy Acute/subacute relapsing, progressive, or relapsing progressive course No spontaneous remission 2. Elevated sedimentation rate or other laboratory evidence of a systemic inflammatory state 3. Electrodiagnostic evidence of an active, asymmetric, axonal, sensorimotor neuropathy 4. Suggestive neuromuscular pathology Vascular thickening or sclerosis, narrowing or obliteration of the vascular lumen, thrombosis, periadventitial capillary proliferation, hemosiderin deposits, nonrandom nerve fiber loss, or Wallerian-like degeneration 5. Clinical response to immunosuppressive therapy 6. Clinicopathologic evidence of a systemic/ secondary etiology Concurrent condition known or suspected to predispose to vasculitis (connective tissue diseases, certain infections or drugs, malignancies/ paraproteinemias, cryoglobulinemia) Simultaneous multiorgan, nonperipheral nerve involvement Biopsy-proven vasculitis in other tissues (Reproduced by kind permission of the American Academy of Neurology and Lippincott Williams and Wilkins.)
A variant is nonsystemic vasculitic neuropathy which is a relatively benign vasculitis, most often presenting as multiple mononeuropathy without evidence of any underlying disease, nor of CNS or other site of vasculitis. See also Churg–Strauss syndrome, diabetic amyotrophy, polyarteritis nodosa, rheumatoid arthritis, Sjo¨gren syndrome, sytemic lupus erythematosus, and Wegener granulomatosis.
vasculitis Inflammation and necrosis of the
disease that is drug related or isolated within the CNS. The various syndromes have been classified; the one in Chart V–3 is freely modified from Moore and Cupps.4460 See also cryoglobulinemic neuropathy, diabetes mellitus, rheumatoid neuropathy, Sjogren syndrome, systemic lupus erythematosus.
surrounding cerebral tumors, infarcts, abscesses, and contusions.
vasopressin (antidiuretic hormone) A peptide with highest concentration in the supraoptic and paraventricular nuclei of the hypothalamus and in their nerve terminals in the posterior pituitary gland, with effects upon learning as well as on renal water excretion.
vasoactive intestinal peptide (VIP) A peptide hormone found in the gut vasoregulation The process whereby and CNS of humans, with its highest concentrations in the cerebral cortex, where it acts as a modulator of vasodilation, as well as having a release function for growth hormone and prolactin and a neurotrophic action on neuronal survival.
blood vessels adapt to the metabolic needs of the tissues they supply. Carbon dioxide and oxygen tensions and pH are the most effective stimuli leading to alterations in the caliber of the cerebral arterioles.
vasoconstriction syncope See
vasovagal (vasodepressor) syncope A mechanism of fainting,
Gowers syndromes.
vasogenic cerebral edema An increase in the volume of the brain’s extracellular space due to the accumulation of water, electrolytes, and protein within it, as a result of damage to the blood–brain barrier. This occurs most typically in the tissue
typically precipitated by unpleasant physical or emotional stimuli (e.g., pain, fright, sight of blood), usually in the upright posture and often preceded by vagally mediated warning symptoms such as nausea, weakness, and yawning. Other features include apprehension, visual blurring, sweating, malaise, anxiety,
Chart V–3. Classification of the Vasculitides 1. Systemic necrotizing vasculitis: Classic polyarteritis nodosa Allergic angiitis and granulomatosis (Churg–Strauss disease) Wegener granulomatosis Overlap syndromes Cerebral vasculitis with ulcerative colitis Sjo¨gren syndrome Sytemic lupus erythematosus 2. Hypersensitivity vasculitis: Henoch–Scho¨nlein purpura Serum sickness Vasculitis associated with infections, connective tissue disease, or malignancy. Drug-induced vasculitis (amphetamines, heroin, cocaine). 3. Giant cell arteritides: Cranial arteritis Takayasu aortic arch arteritis 4. Localized vasculitis: Isolated peripheral nervous system vasculitis (nonsystemic neuropathy) Isolated angiitis of the nervous system Cutaneous polyarteritis Essential mixed cryoglobulinemia Lymphomatoid granulomatosis Behc¸et disease Proximal diabetic neuropathy Multiple mononeuropathy in rheumatoid arthritis Adapted from Moore PM, Cupps TR. Neurological complications of vasculitis.4460 Ann. Neurol. 1983;
walls of blood vessels, as part of a multisystem 14:155. Reprinted by permission of Wiley-Blackwell Publications.
Vater, Abraham
1044
pallor, and brief convulsive movements during the period of unconsciousness. Neurally mediated, prolonged asystolic pauses, mainly due to sinus arrest, preceded for a few minutes by progressive bradycardia or progressive tachycardia– bradycardia appear to be the commonest cause.4526, 6839 The mechanism was described in 1932 by Thomas Lewis (1881–1945), an English cardiologist.5619 A series of weighted diagnostic questions to determine whether syncope is vasovagal or due to another cause has been formulated.5778 The patient probably has vasovagal syncope if the point score is –2. See also encephalosyncope, reflex syncope.
nor showing evidence of emotional awareness. There is thus arousal without awareness. The Glasgow Coma Scale scores will be 4–4–2 or worse. The condition is most often seen after severe head injury or hypoxic-ischemic injury. Suggested criteria require that there shall be no evidence of awareness of the self or of the environment and no volitional responses to external stimuli. Language will not be comprehended nor expressed. Cycles of eye closure and eye opening will simulate sleep and wakefulness. Hypothalamic and brainstem functions are sufficient to maintain respiration and circulation.5218 See also persistent vegetative state5053 and minimally conscious state.
Question (with points given for ‘‘yes’’ answers) Is there a history of at least one of bifascicular block, asystole, supraventricular tachycardia, diabetes? At times have bystanders noted you to be blue during your faint? Did your syncope start when you were 35 years of age or older? Do you remember anything about being unconscious? Do you have lightheaded spells or faint with prolonged sitting or standing? Do you sweat or feel warm before a faint? Do you have lightheaded spells or faint with pain or in medical settings?
vein of Galen A large deep cerebral vein draining into the straight sinus. It is subject to massive dilation as a congenital anomaly (aneurysm of the vein of Galen) which may 5 lead to compression of the midbrain, bleeding, seizures, macrocephaly with 4 hydrocephalus, and, by virtue of the volume 4455 3 of blood shunted, heart failure in infants.
vein of Labbe´ See Labbe´’s vein. 2 vein of Trolard See Trolard’s vein. 1 2
Venereal Disease Research 3 Laboratory Test (VDRL)
Vater, Abraham (1684–1751) German anatomist, the first to describe the encapsulated nerve endings now named for Pacini.
VDRL See Venereal Disease Research
A nontreponemal test for syphilis, detecting flocculation in reaction to nonspecific antibodies of, or in response to, Treponema pallidum infection of the host. Though widely used as a screening test, the result is negative in up to a quarter of the cases of tertiary syphilis and may be positive in collagen-vascular disease, after other infections or recent immune challenges, in leprosy and in old age.5852 See also TPI.
by 25 mmHg) as a result of a local sympathetic C-fiber reflex.4525
venous angiomas Rare tumor-like masses comprising dilated veins with slight or no arterial contribution. See venous malformation.
venous infarction Ischemic damage to tissues resulting from impairment of their venous drainage. This occurs most often in the retina and in the spinal cord, and as a result of thrombosis of the dural venous sinuses. See central retinal vein thrombosis, Foix–Alajouanine syndrome, sinus thrombosis, cerebral venous thrombosis.
venous lakes Benign demineralized areas of the skull seen on either side of the midline on plain X-ray and CT studies, and of no pathological import, unless they prompt invasive investigations.
venous malformation A congenital vascular malformation consisting of a mass of dilated venous channels, within or on the surface of the cerebrum. Bleeding may be clinically inapparent and lesions may be detected fortuitously, especially if they calcify. See venous angiomas, arteriovenous malformation.
venous sinus thrombosis Occlusion of the superior sagittal or of the transverse sinus, usually as a result of infection or dehydration. See sinus thrombosis.
venous stasis retinopathy
A syndrome of unilateral, slowly progressive visual loss with a funduscopic Vegas neuropathy An ulnar Venezuelan equine encephalitis picture of venous engorgement and dotand-blot hemorrhages, with low central neuropathy at the elbow, resulting from Direct brain infection by an arthropod-borne retinal artery pressure, resulting from central leaning the elbow on the edges of gaming alphavirus of the togavirus group, causing retinal vein occlusion and usually 3170 tables for prolonged periods. cycles of encephalitic disease throughout associated with severe carotid artery disease. Central and South America and the southern Anterior segment ischemia may also be United States. Clinically, adults exhibit an vegetative nervous system See present.3363 influenzal disease with marked myalgia, fevers, autonomic nervous system. nausea and vomiting, headaches, conjunctivitis, and pharyngitis. A few children ventral brainstem syndrome See vegetative state A state of altered consciousness occurring as a residuum from suffer severe neurological complications such locked-in syndrome. severe cortical damage in which wakefulness as seizures, paralysis, and coma.1820 ventral cerebellum See inverse appears to be present because the eyes are cerebellum. open and a sleep–wake cycle is retained, but venoarteriolar reflex Arteriolar in which there is no evidence of conscious constriction in the skin and muscles of the awareness, the patients neither speaking nor legs reducing blood flow during limb ventral pontine syndrome See obeying commands given in any modality, dependency (when venous pressure is raised locked-in syndrome.
Laboratory Test.
vergence
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ventral suspension A test of motor abilities used in determining gestational age, in which the infant is suspended in the prone position with the examiner’s hand under the infant’s chest (one hand in a small infant, two in a large infant). Normally, there will be obvious extension of the neck and lower spine with some flexion of the arms and legs.1728 However, an infant with congenital ‘hypotonia’ and marked truncal weakness will also droop in flexion with this manoeuvre. ventricle of Arantius See cava septi pellucidi et vergae.
ventricles (Lat, a small belly) A hollow
well as all words, clauses, and sentences modifying the verb.3949
verbal adynamia See dynamic aphasia.
verbal sterotypy See stereotypy. written word, although isolated letters can be identified. The phenomenon is seen in patients verbal–motor dissociation with dominant angular gyrus lesions.1336 apraxia See apraxia.
verbal alexia Inability to interpret the
verbal aphasia (motor aphasia) The term of Sir Henry Head for that form of speech disturbance (a defect in word formation) in which words are evoked with difficulty and tend to be abnormal in structure and the vocabulary restricted. See Broca aphasia.
part of an organ. The paired lateral and the third and the fourth ventricles were considered to be ‘‘cells’’ by the ancient Greeks, wherein resided mental functions. The ventricular contents were considered to be animal spirits that were pumped out through small tubes to the rest of the body. Hierophilus of Alexandria in 300 B.C. located the seat of the soul in the fourth ventricle. These concepts remained essentially unaltered until the sixteenth century.
ventricular empyema See
verbal automatism Single or
ventriculitis.
is immediately recognized as correct and speech continues. Paraphasic errors and substitutions do not occur. This occurs commonly in elderly people and in those of any age who are under stress or fatigued.1338
Verbiest syndrome See lumbar spinal stenosis.
verbigeration The meaningless repetition by the patient of the same words or phrases over and over again, with appropriate gestural accompaniment; an example of verbal stereotypy.
verbal asomatognosia Distorted Vereniging Spierziekten Nederland A member society of the
awareness of a body part, manifested by verbal denial of ownership of a limb, accompanied by hemispatial neglect. The lesion is considered to lie in the right supramarginal gyrus.1988
European Alliance of Muscular Dystrophy Societies based at Lt-Gen. van Heutszlaan, 6 NL-743 JN Baarn, The Netherlands.
verbal auditory agnosia See word
Vereniging Spierzielcten Belgie¨
deafness.
A member society of the European Alliance of Muscular Dystrophy Societies. Address: c/o Weyneshoflei 1 B-820 Rymenam, Belgium.
repetitive utterances consisting of words, phrases, or brief sentences. See stereotypy.
Verga, Andrea (1811–1895) Italian
anatomist and physician who first described the Cavum Vergae, a cavity within the germinal zone. A condition in which patients cannot gesture septum pellucidum. normally to command while they can imitate ventriculitis (ependymitis, pyocephalus, and can use tools and objects. It is suggested vergence (Lat, turn downward) ventricular empyema) Inflammation of the that the conceptual system for action and (disjunctive eye movements) Simultaneous cerebral ventricles which contain suppurative action production are intact but cannot be movements of the eyes, but in different fluid, usually as a complication of meningitis. accessed by verbal command.2561 directions. This is usually seen as an in-
ventricular germinal zone See
verbal dissociation, apraxia
turning of the eyes (which thus lose the parallelism of their axes), in order to allow outlining the internal proportions of the cerebral resulting from focal damage to the medial, focused close vision. Refixation movements sagittal, and or dorsal convolutions of the ventricles with X-radiography after the and visual tracking movements are of this right frontal lobe, in which patients voice introduction of air or contrast medium at type, and other forms are described.2400 bizarre and caustic descriptions of themselves, operation. The procedure was introduced by Four components of vergence are Dandy in 1913,1439, 5619 after Dr. W.H. Luckett of everyday occurrences and of those about described: had published an account of intraventricular air them, and fail to monitor the undesirable 1. Tonic vergence determines the baseline effects of this output and so to inhibit it.521 following a compound skull fracture.
ventriculography A procedure for
ventriculostium A communication between the cerebral ventricles and the subarachnoid space, occurring spontaneously.3285
VEP See visual evoked potential.
verbal dysdecorum A syndrome
verbal paraphasia The substitution of incorrect words within sentences; a characteristic of dysphasic syndromes. verbal perseveration Repetition of the same word or phrase. See verbigeration.
verbal standstill The interruption of verb phrase The part of a sentence which contains the verb (the predicate) as
flowing speech because the correct word fails to come to mind. When it is offered by another, it
alignment of the visual axis in darkness. 2. Accommodator vergence is an involuntary inturning of the eyes induced by blurring of vision. 3. Fusional vergence, which is induced by retinal disparity. 4. Proximal vergence (nearness), which is induced by a sense of distance of the target and is based on a number of sensory cues.6767
See also versions.
Verger, Theodore-Paul-Henri
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Verger, Theodore-Paul-Henri
Vernet, Maurice (b. 1887) French
(1873–1930) French neurologist who trained in Bordeaux, Pitres being one of his teachers. He was appointed in succession to the chairs of forensic and then internal Medicine. He wrote on proprioceptive sensation and the functions of the parietal lobe, experimental thalamic syndromes, neuralgias, encephalitis, syringomyelia, the traumatic neuroses, and medical ethics.
neurologist, who described the preceding syndrome in his graduation thesis (University of Lyon) in 1916.
Verger–De´je`rine syndrome
Vernet–Sargon syndrome See Vernet syndrome.
vernicomyelia The presence of the contents of the amniotic fluid sac in the spinal subarachnoid space, accompanied by a foreign-body giant cell reaction in the leptomeninges. The condition may complicate a lumbar meningomyelocele in infants.3131
(De´je`rine syndrome, De´je`rine–Mouzon syndrome, Claude topoanesthesia) A syndrome of the parietal lobe in which discriminative tactile sensations and proprioception are lost, while sensations of Verocay nodule A mass of nuclei pain, temperature, vibration, and crude light formed by polar cells seen within neurinomas, tightly opposed in palisades and forming a touch remain intact.1542 nodule within the tumor; the arrays of 6 vermis (Lat, worm-like) The appearances of palisaded cells within Schwannomas. the folia of the cerebellar vermis bear a fanciful resemblance to the segmented body of a worm. Verocet neurilemmoma See Schwannoma.
vermis syndrome (Bailey syndrome) Disturbance of equilibrium with nystagmus and some degree of limb ataxia as a result of a lesion of the vermis of the cerebellum. Depending on the cause, there may also be evidence of increased intracranial pressure.
likely to be electrically driven, have no localizing significance.6887 Compare with Vulpian sign.
vertebra prominens The (longest) spinous process, of C7; and thus that which is most easily palpated or seen in the low neck. The longest (the middle) finger also is innervated by C7. vertebral artery hypoplasia A congenital reduction in the diameter of one vertebral artery to less than 2 or 3 mm, predisposing a subject to stroke in the posterior circulation.4988
vertebral artery stump syndrome The occurrence of posterior circulation strokes after occlusion of a vertebral artery when a thrombus formed at the distal end of a vertebral artery occlusion is carried into the cerebral circulation through cervical artery collaterals.4023
verruga peruana See Oroya fever.
vertebral dysplasia-spinal dysraphism (Curry syndrome)
versions Normal, conjugate deviations of
A congenital dysmorphic syndrome characterized by dwarfism, short webbed neck, kyphosis, platyspondyly, spina bifida occulta, skeletal deformities of the thorax and sacrum, inguinal hernia, absent testes, and cutis gyrata of the scalp.381
the eyes in any direction, in parallel. Fast versive eye movements of this type include saccades, microsaccades, saccadic pursuit, the fast phase of jerk nystagmus, saccadic intrusions, Vernant syndrome (recurrent optic saccadic oscillations, and the rapid eye neuromyelitis with endocrinopathies) movements of (paradoxical) REM Sleep.2400 A syndrome described in young black women Slow versive eye movements include pursuit eye in the West Indies, comprising recurrent movements, microdrift, glissades, the slow optic neuritis, cervical myelopathy with a phase of jerk nystagmus, and the movements of syringomyelia-like syndrome, and pendular nystagmus. Other forms are also amenorrhea with galactorrhea. The cause is recorded.2400 See also vergence. 6532 not known but tuberculous neuropathy and hemorrhagic fevers may be associated.5362 versive motor seizure A sustained, See disseminated vasculomyelinopathy. forced conjugate ocular, cephalic, and/or truncal
vertebrobasilar dolichoectasia Elongation and tortuosity of the basilar artery, which may be benign or can cause cranial nerve or brainstem compression, obstructive hydrocephalus, vertebrobasilar ischemia, or intracranial bleeding.
rotation or lateral deviation from the midline.16 vertebrobasilar Ds A mnemonic to assist the recall of common symptoms of hindVernet syndrome (Vernet–Sargon brain ischemia: dysphagia, dysarthria, versive movements See versive syndrome, Collet–Sicard syndrome) diplopia, drop attacks, dysmetria, and Unilateral paralysis of cranial nerves IX, X, seizures. dysesthesia. and XI, due to a lesion at the level of the jugular foramen in front of the anterior versive seizures (versive movements) occipital condyles. The clinical consequences A variety of simple seizures of focal origin vertebrobasilar insufficiency of this include loss of taste in the posterior involving conjugate deviation of the head (Millikan–Siekert syndrome) Transient third of the tongue; paresis of the vocal cords and eyes, usually but not invariably away ischemic attacks in the territory of the and palate with resulting dysarthria, from the side of the hemispheric discharge.72 posterior circulation, first recognized by dysphagia, and dysphonia; anesthesia of the They are evidence of a frontal lobe lesion in Denny-Brown in 19511583, 1584 (who, soft palate and throat; and weakness of the most cases, but disease of other cortical however, argued against vasospasm but in trapezius and sternomastoid muscles.6147, regions may occasionally be responsible. favor of endarteritis as the cause of transient 6533 Nonversive movements are smallerischemic attacks [TIAs] in the anterior and The pathology is usually a malignancy, amplitude, ill-sustained, and wandering eye posterior circulations) and by Millikan 2 aneurysm, or fracture. See also jugular movements in any direction, and although years later.4382 The symptoms may be foramen syndrome.
vesperal hallucinations
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precipitated by extrinsic compression of the vertebral artery, by spasm or dissection of its wall, by emboli within the lumen, or by diversion of blood (as in the subclavian steal syndrome). The clinical localization of the vascular lesion is frequently incorrect. The diagnosis is suggested by the finding of any two of the following motor or sensory symptoms or both occurring bilaterally in one attack; ataxia of gait or clumsiness of both extremities; diplopia; dysphagia; and bilateral homonymous hemianopia.299, 6744
vertebrobasilar insufficiency nystagmus See cervical nystagmus. vertebrobasilar migraine See basilar migraine.
vertex sharp transient (vertex sharp wave, V wave) A sharp potential, maximal at the vertex, usually negative in relation to other areas and occurring apparently spontaneously during sleep or in response to a sensory stimulus during sleep or wakefulness. It may be single or repetitive and its amplitude varies but rarely exceeds 250 mV. See also K-complex. vertex sharp wave See vertex sharp transient.
vertical gaze paresis Inability to deviate the eyes voluntarily in the vertical plane as a result of a mesencephalic lesion involving the posterior commissure. See dorsal midbrain syndrome.
vertical nystagmus A form of central vestibular nystagmus resulting from an imbalance in central vestibulo-ocular reflex pathways, in which the deviations of the eyes are in the vertical plane. Upbeat nystagmus is likely due to pontine lesions resulting from damage to the ventral tegmental tract, originating in the superior vestibular nucleus, coursing through the ventral pons, and transmitting excitatory upward vestibular signals to the III nerve nucleus. In internuclear ophthalmoplegia, the medial longitudinal fasciculus is involved in the transmission of both upward and downward vestibular signals. The main focal lesions resulting in downbeat nystagmus affect the cerebellar flocculus and/or paraflocculus.5022 If purely vertical, nystagmus is never of peripheral origin. See upbeat nystagmus, downbeat nystagmus.
inputs. Its presence may be physiological or pathological, the latter indicating dysfunction in the vestibular, visual, or paralysis of up-gaze in both eyes and of somatosensory systems or (rarely) in the down-gaze in one of them.1555 2. A cortex of the superior temporal gyrus. supranuclear down-gaze paralysis with Central (brainstem) and peripheral monocular paralysis of elevation. (vestibular apparatus) forms exist, the In each case, the precise nature of the difference at a clinical level being the absence responsible brainstem lesion is unknown. of nausea in many cases of central vertigo, and the form of the accompanying vertical retraction syndrome A rare syndrome characterized by limitation nystagmus. See benign positional vertigo, of elevation or depression of the globe of the central nystagmus, peripheral nystagmus, migrainous vertigo. eye, with retraction and narrowing of the palpebral fissure. The condition is likely to be a synkinesis due to aberrant reinnervation Vesalius, Antonio (1514–1564) Belgian anatomist. After study at the following injury to the III cranial nerve.5 Universities of Louvain, Montpellier, and vertical vestibulo-ocular reflex Paris, he worked in Venice and Madrid and was successively professor of anatomy at Ocular deviation resulting from vertical Padua, Bologna, and Pisa, and at one time head movement or bilateral caloric was surgeon to the Emperor Charles V. stimulation. Bilateral cold stimulation He introduced eponyms into anatomy, induces downward deviation of the eyes and but is thus remembered himself only for a warm stimulation, upward deviation, the small bone and a foramen, although his corrective fast component (taken as the direction of the nystagmus) naturally being monumental work De humani corporis diffusa libri septum (Basel, 1543) assured him a in the opposite direction in each case. permanent monument as one of the greatest anatomists of all time. In the fourth and vertige e´pileptique See affectiveseventh books, he corrected Galen’s error psychic seizure. that the human has a rete mirabile and that the vapor rather than the fluid was the vertige larynge of Charcot See important part of the third (CSF) circulation, cough syncope. though he agreed with the flow pattern suggested. vertige paralysant (kubisagari) The He began to reject what is now called the acute onset of vertigo and pareses of the medieval cell doctrine on the basis of his human elevators of the eyes and weakness of the neck dissections, which latter led him to be the and limbs, occurring in those who work in first to describe internal hydrocephalus. and around stables in Geneva and Japan. The cause of the condition is not known. See vesical crises (Lat, bladder þ Gr, Gerlier disease. sudden change) Acute paroxysmal neuralgic pain in the bladder region experienced by vertiginous epilepsy Brief seizures which include a sensation of rotational or linear patients with tabes dorsalis. The same may vertigo accompanied by versive movements of occur in the larynx and the abdomen. See also the head, eyes, and body. They are usually due gastric crises, rectal crises.
vertical one-and-a-half syndrome 1. The combination of
to a focus in the temporal or parietal lobe.377
vesical reflex Stimulation of the bladder mucosa through bladder distension vertigo (Lat, dizziness) A hallucination of leads to contraction of the detrusor muscle, movement; the distortion of static relaxation of the internal sphincter, and gravitational orientation, or the erroneous perception of movement of the self or of the voiding of the bladder contents. The reflex is mediated through reflex arcs at S2–4. environment, frequently accompanied by nystagmus, ataxia, and nausea. Episodic or paroxysmal; sustained; and positional forms vesperal hallucinations (Lat, are differentiated.6104 It represents a evening þ wandering in mind) Hallucinations occurring at nightfall, as is mismatch between the sense of motion typically the case with peduncular provided by the vestibular apparatus and hallucinations. See also sundown syndrome. that provided by visual or proprioceptive
vespers curse
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vespers curse Pain in the low back and is unidirectional, the fast phase is away from
vestibulitis An acute acquired,
the side of the lesion, a rotatory component is common, visual fixation tends to inhibit it, the nystagmus is not always reproducible with testing, and the vertigo is usually marked. By contrast, in the presence of central lesions the nystagmus is uni- or bidirectional, it is usually purely vertical or rotatory, fixation has no effect on the amplitude, and any accompanying vertigo is mild.5 Forms described include apogeotropic, alternating current, Bechterew, caloric, Vestibular Disorders Association A charitable organization in after-caloric, compensatory, compression, this field providing services to patients and Faradic, Galvanic, geotropic, head-shaking, induced, labyrinthine, perverted, professionals. Address: P.O. Box 13305, pneumatic, positional, positioning, postPortland, OR 97213-0305. Tel: 800-837rotational, pseudocaloric, rotational, 8428. Web site: http://www.vestibular.org/ upbeat, downbeat, and secondary phase index.php/. nystagmus.
presumably viral, infection of the vestibular apparatus, leading to acute vertigo, nystagmus, nausea and vomiting, and imbalance. See also vestibular nystagmus, vestibular vertigo, vestibular neuronitis.
legs with features of the restless limb syndrome, waking the subject from sleep in the early morning. The mechanism is considered to be the combination of congestive cardiac failure and lumbar spinal stenosis, the increased right atrial filling pressure being transmitted to the epidural venous plexus and causing increased pressure in the constricted spinal canal.3627
vestibular epilepsy (vestibulogenic epilepsy) 1. A variety of sensory-evoked epilepsy precipitated by excessive provoked or spontaneous stimulation of the vestibular apparatus.377 2. Recurrent, transient postepileptic vertigo, possibly a variant of that form of epilepsy in which the seizures are provoked by excessive spontaneously arising discharges of the vestibular apparatus.485 vestibular migraine The occurrence of rotational or ‘‘to-and-fro’’ vertigo lasting minutes to hours in adults, often without currently accompanying headache.1640
vestibular neuronitis A form of recurrent unilateral labyrinthine dysfunction presenting as acute severe rotatory vertigo with postural imbalance, nausea, and vomiting lasting for about a week, without cochlear or other neurological symptoms.1666, 6104 Reactivation of a latent HSV1 infection is suspected in some cases, but the unique identity of the syndrome is not universally agreed. See acute peripheral vestibulopathy.
vestibular nystagmus (electrical nystagmus) A form of acquired horizontal, horizontal-rotatory, or vertical directionchanging jerk nystagmus resulting from dysfunction of the central or peripheral vestibular system and commonly associated with the clinical complaint of vertigo. Its amplitude is increased with gaze in the same direction as the fast phase, and, when due to peripheral end-organ disorder, the fast phase is away from the side of the lesion. When due to peripheral lesions, the nystagmus
vestibulocephalic response See vestibulocerebral response.
vestibulocerebral response (oculocephalic response, vestibulocephalic response, doll’s head response) Ocular deviation, with or without nystagmus, occurring as a result of head movements causing labyrinthine stimulation.
vestibulocollic reflex (vestibular
evoked myogenic potential) Short-latency myogenic responses evoked in the tonically contracted ipsilateral sternocleidomastoid vestibular pseudoneuritis A muscle in response to auditory clickvestibular syndrome due to central (brainstem) stimuli,1244 in which case a cochlear rather than peripheral lesions. The component would appear likely as well. The manifestations of the two sites of lesions are reflex can also be obtained by tapping the very similar except for the increased prevalence head with a reflex hammer. The homolateral of skew deviation with central pathologies. reflex is absent in cases of unilateral vestibular disease3110 and in Me´nie`re vestibular Schwannoma See disease, acoustic neuroma, vestibular Schwannoma, neurofibromatosis. neuritis, multiple sclerosis, and basilar-type migraine. The reflex depends upon a rapidly conducting oligosynaptic brainstem vestibular vertigo Vertigo due to disorders affecting the semicircular canals or pathway between the vestibular nuclei and motor neurons of the XI n nucleus. the otoliths in the utricle and saccule. The first of these causes a spontaneous rotational vestibulogenic epilepsy A variety of vertigo of the self or the surroundings, associated with spontaneous nystagmus with sensory-evoked seizure, the stimulus here the fast phase beating away from the side of being of the peripheral labyrinth. See the lesion; and with severe nausea, postural vestibular epilepsy. imbalance, and homolateral horizontal canal vestibulo-ocular reflex (VOR) paresis on irrigation. The second produces more of a sensation of tilt or levitation, with A short-latency reflex ensuring stability of the position of the eyes (and thus stable postural imbalance, vibration oscillopsia, retinal imaging) during rapid changes in and moderate nausea, but without nystagmus, although there is diminution of head position, through the execution of smooth, conjugate, restitutive, slow eye ocular counter-rolling on head tilt.819 movements. The pathway runs from the semicircular canals to the superior vestibular vestibular-evoked myogenic nuclei in the brainstem and thence to the potentials A short-latency reflex oculomotor nerve nuclei. The reflex and its mediated by the otoliths and recorded from mechanisms and disturbances are fully the sternocleidomastoid muscle, usually in reviewed by Leigh and Zee.3762 See response to loud auditory clicks. The test oculovestibular reflex. evaluates otolith function6715 and can demonstrate a return to normal function vestibulo-oculogyric reflex after plugging in superior canal dehiscence. (labyrinthine reflex) Lateral deviation of the eyes, with or without nystagmus, away from the side of stimulation of one labyrinth, as in vestibule (Lat, a room within an entrance) A cavity leading on to another one, caloric testing using cold water. See oculovestibular response. of larger size.
Vidian neuralgia
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vestibulopathy Any affection of the vestibular apparatus. Acute vestibulopathy provokes the acute or subacute onset of vertigo, dizziness or imbalance, tinnitus, aural fullness, and hearing loss with or without ocular-motor, sensory, postural, or autonomic symptoms and signs, lasting from seconds to days. Its causes include acute peripheral disorders (benign paroxysmal positioning vertigo, vestibular neuritis, Me´nie`re disease, perilymph fistula as with superior canal dehiscence syndrome, and vestibular paroxysmia); and acute central vestibular disorders such as vestibular migraine. Predisposing factors to the peripheral form include blowing the nose, lifting heavy goods, and landing in an airplane.6103 A dominantly inherited form of bilateral vestibulopathy has been linked to a mutation at 6q and two syndromes of dominantly inherited hearing loss (DFNA9 and DFNA11) are associated with bilateral vestibulopathy.3194 Another dominantly inherited form is described in which episodic vertigo is succeeded by gait imbalance and oscillopsia in the presence of normal hearing.363
such varying stimuli in the bedside quantitation of large-diameter afferent fiber conduction or the assessment of posterior column function.
Clinical presentations include cognitive problems, balance disorders, and seizures.
Vicq d’Azir, Felix (1748–1794)
French physician and comparative anatomist, physician to the French Queen Marie acuity during walking due to damage to the Antoinette, and secretary of the French 819 otoliths in the utricle and saccule. Academy of Medicine. He gave a rudimentary account of the lobes of the cerebrum, his vibration white finger See hand-arm anterior, middle, and posterior lobes vibration syndrome. corresponding to the frontal, parietal, and occipital, but the temporal lobe was only differentiated by Arnold in 1838. He also vibration-induced nystagmus described the insula well before Reil, the Nystagmus induced by a vibrating tuning fork placed on the mastoid process, with the substantia nigra (‘‘locus niger crurum cerebri’’) in 1786 and the mammillothalamic tract fast component away from the side of the (bundle of Vicq d’Azir), although this vestibular lesion. observation was not published until 1805.4895
vibration oscillopsia Reduced visual
vibratory sensation (pallesthesia)
(from Gr, shake þ sensation) A sensory mode considered at the end of the nineteenth century to be a discrete modality, with receptors in the periosteum conveying the ‘‘shocks of locomotion.’’ (The ability of the penis, cheek, breast, and skin of the abdominal wall to feel vibration was not considered.) The modality was first examined in the clinical context by Rumpf vestibulopupillary response in 1889; it had not been noticed by Gowers Dilation of the pupil in response to in his textbook the previous year. labyrinthine stimulation. von Frey believed that vibration was Veterans Administration (VA) mediated by pressure receptors, and Pacinian Seizure Frequency and Severity corpuscles are now regarded as the relevant end-organs. The central transmission Scale A scale recording the frequency and pathway includes a route through the severity of partial seizures based on the posterior columns and almost certainly reports of the patient and observers.1750 others, perhaps even in the lateral columns and spinocerebellar tracts, which would Vialetto–van Laere syndrome support the suggestion that the pathway (bulbar spinal muscular atrophy with from the skin is the same as that for touch, deafness, bulbar palsy with deafness) but from deeper structures, it is the same as A recessively inherited form of bulbar palsy that for postural sensibility. seen in children and occurring in two forms: The sensation of vibration itself represents the temporal modulation of tactile sense, 1. Eighth nerve deafness and bulbar palsy analogous to the relationship between flicker accompanied by extraocular palsies and and vision. Loss of vibratory sense is due to facial weakness; the condition is fatal the desynchronization of the afferent pattern within 18 months of onset.6501 of impulses in demyelinated peripheral 2. A form that has similar clinical features, but its onset is in the second decade and the nerves or in the central processes of the large deafness and facial, bulbar, and truncal dorsal root ganglion cells.983 The tuning neurogenic weakness progress slowly fork was invented by John Shore, an English enough to allow life until the fourth musician, in 1711.
Victor, Maurice (1920–2001) Canadian neurologist who trained initially in Winnipeg and later in Utah and Boston. He accompanied Dr. Raymond Adams to the Massachusetts General Hospital in 1951 and moved to Cleveland in 1962. An outstanding teacher and clinician, he wrote on many neurological topics, especially on those related to alcohol abuse, but is most widely remembered for his joint authorship of a textbook on the Principles of Neurology (with Dr. Raymond Adams), to which he brought huge knowledge, perspicacity, and common sense in its descriptions of the basic and clinical aspects of the discipline. video game-induced seizures Usually generalized and less often occipital seizures with or without photosensitivity, induced by playing games on a video monitor or hand-held liquid crystal display and due to pre-existing photosensitivity, pattern sensitivity, emotional and cognitive excitation, and/or proprioceptive stimulation. Fatigue, sleep deprivation, and prolonged playing are facilitating factors.4882
Vidian neuralgia (Vail neuralgia, cluster headache) A syndrome of facial pain resembling Sluder syndrome, the pain radiating as far back as the ear, mastoid, neck, and shoulder (as it may also in the latter condition; the distinction between the decade. Madras neuropathy may be two is too fine for this author to identical. See also progressive bulbar palsy. perceive).6457 The condition may represent vibroacoustic disease A systemic disorder caused by exposure to large pressure another form of cluster headache. Vidus vibrameter A device that emits amplitude and low-frequency noise and Vidius (1500–1569) was an Italian, continuous sinusoidal vibrations at physician to King Francis I of France and frequencies and intensities under the control characterized by proliferation of the extracellular matrix of connective tissue. later professor of medicine at Pisa. of the operator. The subject is exposed to
Viets test
Viets test Manual compression of the jugular veins until the subject feels fullness in the head. Increased pain radiating from the back into the legs represents a positive result, suggesting irritation of the lumbosacral nerve roots. The Naffziger test is similar except that it employs a blood pressure cuff around the neck, inflated to 40 mmHg for 10 min, whereby the patient is made to suffer extreme discomfort in order to add a degree of spurious precision to an observation of minor importance.
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interests outside medicine, who wrote on cirrhosis and the portal circulation and was expert in the therapeutic value of spas.2066
Vineland Adaptive Behavior Scale A set of scales measuring self-help skills
such as communication, daily living skills, socialization, motor skills, and maladaptive Villaret syndrome (retroparotid space behavior, based upon a questionnaire and a structured interview. The instrument is syndrome, posterior retropharyngeal syndrome, posterior retroparotid syndrome) appropriate for cognitively impaired people at 5966 Unilateral paralysis of the muscles supplied all ages from infancy to adult. by cranial nerves IX, X, XI, and XII, and violaceous hue The light purple color sometimes cranial nerve VII, with Horner syndrome, as a result of compression of these of the skin of the eyelids in some patients with dermatomyositis or with the skin nerves in the posterior retroparotid space, lesions of morphoea. The French word mauve usually by a malignancy.6550 Vieusseux, Gaspard Swiss physician The difference between this and the Collet– would be equally appropriate, if less who himself suffered a lateral medullary memorable. Sicard syndrome is minimal. The cranial syndrome (Vieusseux–Wallenberg syndrome), nerves affected in other syndromes resulting his case being discussed and reported in 1810. from disease of this area include the following: violinists’ cramps Focal (occupational) He gave the first description of bacterial dystonias occurring either in the hand Jackson syndrome (complete unilateral X, meningitis in 1806, in Geneva. fingering the strings or in that holding the XI, XII); bow. Mackenzie syndrome (IX, X, XI, XII); Vieusseux, Raymond (1641–1716) Collet–Sicard syndrome (IX, X, XI, XII); French physician, professor of anatomy at viral myoglobinuria The occurrence Avellis syndrome (X); Montpellier. He described the inferior of rhabdomyolysis with spilling of Schmidt syndrome (X, XI); olives, the pyramids, the centrum ovale, and myoglobin into the urine, as a result of viral Tapia syndrome (XI, XII); the semilunar ganglion. (e.g., influenzal, Coxsackie) infections. Lannois and Jouty syndrome (IX, X,
Vieusseux–Wallenberg syndrome See lateral medullary syndrome.
vigilance The ability to sustain sensory attention. A state of the nervous system manifested at all levels and capable of either local or general depression; the high-grade physiological efficiency in those neural structures responsible for certain activities and allowing diverse and varying modes of response. Conscious processes would thus be the expressions of physiological vigilance.2814
XI, XII); Vernet syndrome (VII, IX, X, XI, XII with or without involvement of the cervical sympathetic pathway and hemiparesis).6147
encephalitis. The nature of this condition is now uncertain.6554
Virchow, Rudolf Ludwig Karl Villar–Rose syndrome See cephalic tetanus.
Vincent sign The Argyll Robertson pupil.
Viliuisk encephalomyelitis A neurodegenerative disorder expressed as subacute meningoencephalitis progressing to a more prolonged pan-encephalitic syndrome with a fatal outcome in 1–10 years. Some patients survive to a steady state of global dementia and severe spasticity that may last over 20 years. Multiple micronecrotic foci surrounded by inflammatory infiltrates are observed throughout the cerebral cortex and other gray matter areas. An infectious etiology is strongly suspected, but the causative agent has not been identified but most patients show evidence for intrathecal IgG synthesis correlating with the clinical manifestations of the disease.126
Villaret, Maurice (1877–1946) French physician and physiologist with major
Virchow disease Acute congenital
Figure V–2 Maurice Villaret
(1821–1902) German pathologist who graduated from Berlin. After he reported that the cause of a typhus epidemic into which he had been sent to inquire was largely social and directly the fault of the government, he was dismissed from his posts in Berlin, but was appointed at once as professor of pathological anatomy at Wu¨rzburg and eventually was able to return to Berlin as professor in 1856. The father of modern pathology, particularly cellular pathology, he founded Virchow’s Archives, the prestigious journal of pathology, in 1847, and was a preeminent medical scientist, historian, and politician during his active career. He first identified the neuroglia in 1846, and also described thrombosis, infarction, vascular emboli, subdural hematomas, spina bifida occulta, and leontiasis ossea. The terms agenesis, heterotopia, ochronosis, and leukocytosis were initially his, and Virchow’s name is also given to the following three items.
Virchow–Robin spaces (Virchow spaces) Extensions of the subpial spaces forming gaps around blood vessels in the
visual evoked potential
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brain. They are filled with interstitial fluid and house penetrating arteries and veins.1961 They were described by Virchow 4 years after they had been identified by Charles-Philippe Robin (1821–1885), a French physician. Larger spaces of this kind, more than 1.5 cm in diameter, are most commonly seen in the midbrain and are known as giant perivascular spaces. These have variously been thought able to cause headaches, dementia, syncope, seizures, visual changes, stroke, impaired memory and concentration, and imbalance on the basis of mere association and many diseases are alleged to be associated. MRI scans show that they are located along the path of a penetrating vessel, are isointense with CSF, contain no calcium, and are surrounded by normal appearing brain tissue.1961
associated with temporal lobe epilepsy, corresponding to the intensity of their pain, especially with left-sided or bilateral foci.5190 from no pain to the worst pain I ever felt.732
vision (from Lat, the sense of seeing) The
visual apperceptive agnosia See
faculty of sight.
visual agnosia.
visual adaptation The disappearance
visual associative agnosia See
from sight of a stationary visual target after the subject has gazed at it for a few seconds. The phenomenon is occasionally found with some cases of lesions of the optic radiations.454
visual agnosia.
visual agnosia A disorder of recognition confined to the realm of vision in which alert, intelligent, and nondysphasic patients with normal visual perception fail to comprehend the nature or meaning of nonverbal visual stimuli which formerly had been understood. Virchow–Seckel syndrome See Two forms are recognized: In visual Seckel syndrome. apperceptive agnosia, the subject cannot name, copy, or match an object, although the visual virile reflex See bulbocavernosus reflex. fields are full and acuity is unaffected. The lesion (usually ischemic) affects the calcarine visceral epilepsy Epigastric auras cortex bilaterally, or its pathways.758 In consisting of indescribable feelings, pain visual associative agnosia discrimination is (Moores syndrome), and cardiac, retained but identification fails. Thus, the respiratory, or gastrointestinal symptoms as subject can recognize or draw an object manifestations of ‘‘partial’’ epilepsies.4537 named and presented among others, but cannot recognize objects visually without visceral larva migrans See such cues.5028 The lesion is likely to be in the toxocariasis. anterior left temporal lobe.
visual aura The perception of flashing or flickering lights, spots, simple patterns, scotomata, or amaurosis, in epilepsy or in migraine.
Visual Aura Rating Scale A scale developed to differentiate migraine visual aura and non-aura features, assessing duration, speed of development, the presence of scotomata and zigzag lines, and unilateral/ homonymous visual loss. visual axis A line between the fovea and the point of fixation. visual confusion A visual error consisting of the perception that two different objects are occupying the same position in space. See also diplopia.
visual disorientation (Holmes
syndrome, Riddoch syndrome) Defective visuospatial orientation as a result of lesions in the region of the supramarginal and angular gyri; there is, thus, an inability to localize objects visceral neuropathy See familial visual agnosia or apraxia in the three planes of space, and especially to visceral neuropathy. without dementia A progressive estimate absolute and relative distances. When syndrome in which there is an impairment of occurring in a single homonymous half-field, it visceral pain Dull or cramping visuoperceptive abilities in the absence of is due to a contralateral parietal lobe lesion.5292 abdominal discomfort and pain, often dementia or oral language disorders, starting See simultagnosia. associated with nausea and autonomic in adult life and with slow progression. The reactions. It may occur in the absence of any relationship to other primary progressive visual dysesthesia The tendency for abdominal organ dysfunction, and represent dementias is not yet clarified.1515 See also stimuli in one half-field to have an a neuropathic type of pain. Autonomic agnosia. unpleasant quality, tending to elicit an dysreflexia may complicate patients with exaggerated startle reaction; an uncommon spinal cord lesions above the splanchnic visual allesthesiae The transfer of manifestation in disease of the visual cortex. outflow (sixth thoracic level). visual images from one half-field to the other—thus a form of palinopsia.3133 visceromotor symptoms Lipvisual evoked potential (visual smacking, swallowing, or chewing movements, most commonly recognized as part of a seizure originating in the temporal lobe. See temporal lobe syndromes.
evoked response) Electric waveforms of biologic origin recorded over the cerebrum A method of assessing mood levels whereby and elicited in response to visual stimuli. the subjects select a point along a visually They are classified by stimulus rate as presented scale corresponding to their transient or steady state, and they can be assessment of their level of, for example, further divided by stimulus presentation viscosity 1. Stickiness of thought happiness–sadness.2148 mode. The normal transient VEP to processes, leading to a tendency to talk checkerboard pattern reversal or shift has a repetitively and circumstantially on a narrow major positive occipital peak at about range of topics. 2. Enhanced intrapersonal Visual Analog Test A method for 100 ms (P100), often preceded by a negative adhesiveness; a tendency to ‘‘cling’’ to certain scoring the amount of pain felt, whereby other people. In each case, the trait is subjects are required to mark on a line the place peak (N75). The precise range of normal
Visual Analog Mood Scale
visual evoked response
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visual perseveration (paliopsia) 1. Recurrence of visual perceptions after the stimulus-object has been removed. A variety of this affection (illusory visual spread) comprises visual inversion Transient complete 1808 inversion of the visual image resulting an illusory extension of the visual perception from ischemic, traumatic, or inflammatory over an area greater than that which the stimulus-object would be expected to excite; pathology in the occipital lobes.4284 thus, a metamorphopsia in which objects appear elongated in one dimension only. The visual neglect A defective ability to causative lesion is in the posterior part of the attend to one or more components of the hemisphere, on either side.1328 2. A total visual environment as a result of lesions phenomenon characterized by the prolonged of one or other cerebral hemisphere, persistence of a visual image without late especially the right. Accompanying visual recurrences, in the presence of evidence of ictal field defects are not always demonstrable. without any associated visual evoked response See visual The area of neglect is more frequently central activity but 1376 hemianopia. See also palinopsia. evoked potential. or bilateral than contralateral to the site of the cerebral lesion. It occurs with either left visual reproduction test A test of or right hemisphere damage but is more visual field That portion of space in visuospatial praxis in which the subject has severe with the latter. It is also more which objects are visible at the same moment to reproduce increasingly complex geometric common in the center of the page or during steady fixation of the gaze in one figures after a 10-s study period, and then to 6374 bilaterally than unilaterally and so is direction. See also field of vision. copy the stimulus figures (to assess probably a bilateral phenomenon. It may 104 visuoperceptual dysfunction).5474 occur without a visual field defect. visual grasp reflex The return of gaze to a target despite commands to look visual static agnosia Impaired Visual Neglect Recovery Index recognition of statically presented stimuli, elsewhere. Reflex saccadic movements are made toward a transiently presented visual A battery of tests modified from the with relatively retained recognition of those stimulus, while gaze is meant to be directed Behavioral Inattention Test and used to that are moving.759 2127 evaluate visual and other forms of neglect upon a different, fixed target. following acute stroke, and to predict visual vertigo Vertiginous symptoms recovery.6071 provoked by visual stimuli, usually evidence visual hallucinations Perception of of a peripheral vestibular rather than a visual images in the absence of objective visual object agnosia A failure of psychogenic disorder.865 stimuli. See ophthalmopathic generic class recognition—even worse than hallucinations, hemianopic hallucinations, the usual visual agnosia. See also agnosia. visual vertigo 1. (optokinetic motion peduncular hallucinosis, hypnagogic sickness) The physiological effect of a hallucinations. The subject has been visual orbicularis reflex (of mismatch between the visual sensation of reviewed in depth by Miller Fisher.2101 Descartes) (palpebral reflex) See orbicularis movement and the concomitant vestibular oculi reflex. and somatosensory inputs which signal that visual illusions of movement The movement is not occurring—as occurs when appearance of movement or of displacement viewing chase scenes on a wide-angle cinema visual paresthesias Disagreeable of the visual field with respect to an observer screen. 2. Vertigo induced by distorted qualities of sensation coming from the when no such movement has occurred. visual input, as with incorrect refraction, affected side in patients with partial Three forms are differentiated: strong plus-lenses after cataract surgery, or hemianopias. 1. Autokinetic illusions are the apparent oculomotor paresis (ocular vertigo).
values for the latency and amplitude of P100 depends on several factors: (1) subject variables, such as age, gender, and visual acuity, (2) stimulus characteristics, such as type of stimulator, full-field or half-field stimulation, check size, contrast, and luminescence, and (3) recording parameters, such as placement and combination of recording electrodes. (From the 2001 Report of the Nomenclature Committee of the American Association of Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.)
wanderings of a small light source in a dark environment. 2. Oculogyral illusions arise when the observer experiences the stimulus of angular acceleration, again best seen when the observer fixes a small light source in a dark place. 3. Oculogravic illusions, linked with the stimulus of linear acceleration, can be seen in any condition of illumination, and consist of illusions of tilt and of movement.
All three forms have been ascribed to small, involuntary, and physiological eye
movements resulting from labyrinthine activity.6756
visual paraneoplastic syndrome (photoreceptor degeneration, cancerassociated retinopathy, paraneoplastic retinopathy)A syndrome of night blindness, visual hallucinations, or other visual impairments in subjects with small cell carcinoma of the lung (or less often cervical, endometrial, or breast carcinomas, malignant melanomas, and other lung carcinomas) due to the production of antibodies directed against the antigens shared by the tumor and the retina and/or optic nerve.
visual-constructive derangement See visuospatial agnosia. visual-palpebral reflex See palpebral reflex.
visual-sensitive seizures Seizures provoked by visual stimuli or alteration of such stimuli. See photosensitive epilepsies. (Even though not the officially recommended term, the latter is the one best known and more etymologically correct).
Vogt, Oskar
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visual–verbal test A test of abstraction vitamin E deficiency A consequence the corpus striatum) A form of cerebral palsy ability wherein the subject is required to determine the common attributes of three of the four patterns printed on cards, there being two sets, each card with three patterns sharing such attributes.2002
of chronic malabsorption syndromes in which dysarthria, an ataxic syndrome with or without musculoskeletal changes (especially in children), an areflexic sensorimotor peripheral neuropathy, and extensor plantar responses have been described.2759 Other manifestations may visuomotor ataxia (disturbance in include cranial neuropathy with visual orientation, trouble du sens de ophthalmoplegia and dysarthria; l’e´space) A disorder of the visual control of psychomotor impairment; posterior motor activity despite intact motor, cerebellar, and somatosensory functions, and column dysfunction; myopathy; and pigmentary retinopathy. This deficiency with normal praxis and visual perception. One or both half-fields and the contralateral has been held responsible for the neurological syndromes of children with or the homolateral hand may be affected; bilateral involvement indicates the presence severe chronic liver disease and of hypoof a callosal lesion; unilateral involvement, a and a-betalipoproteinemia. The syndrome resembles Friedreich ataxia, but in that lesion of the occipitofrontal pathways condition plasma -tocopherol levels are subserving the visual control of normal and there is no response to movement.5373 See optic ataxia. vitamin E supplementation. Isolated vitamin E deficiency is inherited as visuopatial agraphia See agraphia. an autosomal recessive disease mapped to chromosome 8q13 and presents with visuospatial ability The capacity to cerebellar and peripheral neuropathic recognize the presence, position, and spatial signs.3120 relationships of objects seen, and to manipulate them appropriately in space. vitamin E deficiency myopathy
visuospatial acalculia See acalculia. visuospatial agnosia (planotopokinesia, apractagnosia for spatial orientation, visual-constructive derangement) A defect in the analysis of spatial relationships and in the execution of constructional tasks under visual control, particularly those demanding a fine appreciation of spatial structure such as drawing, copying, and the manipulation of patterns, caused by a lesion of the ‘‘minor’’ hemisphere parietal lobe,5247 due in part to unilateral visual inattention.
visuospatial neglect A relative imperception of objects in one half of the visual field, most commonly occurring with right hemisphere lesions in the early stages after, for example, stroke, but later found with equal incidence after lesions of either hemisphere. A combination of the vestibulo-ocular response and optokinetic nystagmus, providing the mechanism for the stability of the retinal image when not only the head but also the object of fixation is moving.
Vogt, A. (1879–1943) Swiss ophthalmologist, working in Zurich.
Vogt, Ce´cile (1875–1931) French neuroanatomist, who trained in Paris and worked for a year with Marie at the Salpeˆtrie`re, where she met Oskar Vogt, whom she later married. Her earlier interests were in myelination, but she and her A syndrome complicating chronic husband later concentrated upon cholestasis, in which low serum vitamin E cytoarctitectonic and stimulation studies in levels, absent reflexes, mild weakness, ataxia, primates, which led to the differentiation of and sensory loss in the arms and legs occur in 100 separate cortical areas—minutiae no association with the presence of multiple longer accepted as meaningful. She also autofluorescent inclusions within skeletal studied the basal ganglia and was the first to muscle fibers, showing strong acid ascribe a specific disease state (double 4638 phosphatase reactivity. athetosis) to disease of the striatum and to apply the term e´tat marbre´. vocal agnosia Difficulty in recognizing a known human voice due to bilateral Vogt, Heinrich (1875–1937) German temporal lobe damage. psychiatrist who graduated from Heidelberg and became professor of psychiatry in vocal automatisms Single or Go¨ttingen. He described the features of the repetitive utterances consisting of sounds juvenile form of neuronal ceroid such as grunts or shrieks, in the context of lipofuscinosis (Spielmeyer–Vogt disease) epilepsy. before, but published after, Spielmeyer.7 vocal cord abductor paralysis A potential life-threatening complication of multiple system atrophy through its ability to cause nocturnal airway obstruction.3105
vocal spasmodic dystonia visuovestibulo-ocular response
with athetosis, chorea, and eventually dystonias, and usually with mental retardation, characterized by the abnormal presence of myelinated fibers in the corpus striatum (e´tat marbre´).6561 The clinical syndrome results from destruction of the cells of the caudate nucleus and putamen, leading to spastic diplegia without pyramidal tract involvement, dysarthria, athetosis, rhythmic oscillations, and pseudobulbar palsy as a consequence of damage to all cell types in the neostriatum.6561 See also double athetosis. 2. A form of acrocephalosyndactyly once regarded as type II, but so similar to type I (Apert syndrome) that the difference is illusory.
A primary focal dystonia affecting phonation, the speech having a ‘‘strangled’’ or tight quality.
Vogt syndrome
1. (Wilson–Vogt syndrome, congenital chorea, syndrome of
Vogt, Oskar (1870–1959) DanishGerman neuroanatomist and neuropathologist. He was born in SchleswigHolstein and trained with Binswanger and Forel, Marie, and the De´je`rines in biological sciences and neurology. His goal was to found an institute where scientists of various disciplines could work together on problems of the nervous system, and he did so with the founding of the Neurologische Zentralstation in Berlin (1898), later incorporated into the University of Berlin
Vogt–Koyanagi syndrome and in 1931 becoming the Kaiser WilhelmInstitut with over a hundred staff members and himself as director, funded in large part by the Rockefeller Foundation. Political factors led to his removal in 1937 to a smaller institute in Neustadt, from which he was called up for military service as a private soldier at the age of 69. However, he proved intractable and was discharged to resume his cytological studies on the huge collection of brains collected in the Institut by Bielschowsky, Brodmann, Foerster, Liepmann, Oppenheim, and others, and preserved over the years. Both Oskar and Cecile Vogt had as their goal the correlation of normal and abnormal behavior with brain morphology, and to this end they published their works on cytoarchitectonics from 1903, assisted by Brodmann, and on myeloarchitectonics in numerous animals as well as in humans. The Vogts also studied the variable susceptibility to disease manifested by different brain areas, noting that the vulnerability of each neuron system is determined by the distinctive physicochemical composition of its cells (pathoclisis).5704, 2808
Vogt–Koyanagi syndrome See uveomeningoencephalitic syndrome.
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voluntary nystagmus A series of repetitive, conjugate eye movements (backto-back saccades) which are consciously induced. They can seldom be sustained for Volkmann ischemic more that 15 s at a time and usually occur contracture Muscle fibrosis and sensorimotor neuropathy with distal muscle horizontally at high frequency, often accompanied by facial grimacing. Rarely, the atrophy resulting from prolonged same can be seen in one eye only. The compressive ischemia, as in the condition has also been reported to occur as a compartment syndromes and thus most dominant characteristic, but in such cases commonly seen in forearm and pretibial the movements do not represent true muscles after vascular injury due, for 264, 3746 See also psychogenic example, to supracondylar fractures. Features nystagmus. flutter. of Sudeck atrophy are also commonly present.6563 volvular epilepsy A form of complex Volkmann, Richard von (1830– partial seizure in which the patient walks 1889) German surgeon who graduated in around in small circles; a generalized tonic– Berlin and later became professor of surgery clonic attack may or may not follow. The in Halle. seizure focus is in the temporal or frontal region.1684 Vollmer reflex Lordosis of the spine, flexion of the limbs, and a loud cry occurring vomiting reflex Reverse peristalsis of when the spine of the infant held in ventral the esophagus with vomiting in response to suspension is firmly stroked. This reflex is stimulation of the posterior pharyngeal wall normally present for the first 3 months of or elsewhere in the upper part of the life.6898 gastrointestinal tract. This is a normal response unless markedly disinhibited. voltage The potential difference between two sites, expressed in volts (V) or millivolts von Ammon syndrome See Apert (mV). syndrome. fibers supplying the VII cranial nerve nucleus. Cf. mimetic facial palsy.
Vogt–Koyanagi–Harada volume conduction The propagation von Angyal syndrome A variant of syndrome See uveomeningoencephalitic of electrical currents from external sources Gerstmann syndrome, characterized by syndrome.
Vohwinkel syndrome See deafness, keratopachydermia, and digital constrictions.
within the body, but through extraneural tissues.1748
voluntary (from Lat, of free will) Under conscious control.
voluntary activity In electromyography, the electric activity recorded from a muscle during consciously controlled contraction. The effort made to contract the muscle may be specified relative to that of a corresponding normal muscle, voiceless bilabial (stop) A consonant e.g., minimal, moderate, or maximal. If the made by occluding air flow completely at the recording remains isoelectric during the lips, letting pressure build up, then releasing attempted contraction and equipment it in a sudden burst. The only voiceless malfunction has been excluded, it can be bilabial stop in English is ‘‘P’’.3949 concluded that there is no voluntary activity. (From the 2001 Report of the Nomenclature volitional activity Activity performed Committee of the American Association of as a result of conscious decision. Electromyography and Electrodiagnosis.19 Reproduced by kind permission of the AANEM.) volitional facial palsy Weakness of the lower quadrant of one side of the face for the performance of willed movements, as a voluntary flutter See psychogenic result of damage to some of the corticobulbar flutter. voice-induced epilepsy A form of reflex epilepsy in which the seizures are triggered by a certain quality of the voice heard.2155
right–left confusion, dysgraphia, and thumb-mouth agnosia.6564
von Bekesy, Georg (1899–1972) Hungarian otologist and physicist whose work (mainly at Harvard) clarified the functions of the cochlea for which he was awarded the Nobel prize for Physiology in 1961. He invented the patient-controlled audiometer that bears his name. von Bekhterev reflex See carpometacarpal reflex.
von Bonsdorff technique A method of increasing the yield in the Trousseau test, whereby a blood pressure cuff on the arm is inflated to just below the diastolic pressure for 10 min, after which the patient hyperventilates for a minute. Tetany in the arm tested represents a positive result.
von Burdach, Karl Friedrich See Burdach.
von Hippel-Lindau disease
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von Economo encephalitis See encephalitis lethargica.
von Economo, Baron Konstantin (1876–1931) Austrian neurologist and neuropathologist. Born in Romania of wealthy Greek parents, he grew up in Trieste and studied engineering in Vienna before commencing medical studentship. After graduation he trained with Pierre Marie in Paris, but later returned to Vienna and eventually became professor of psychiatry and neurology in 1921. Having numerous other interests, however, he refused further promotion. He was passionately interested in aeronautics (and was the first Austrian to hold an international pilot’s licence) and in ballooning. He published on the topics of pontine tumors, the trigeminal nerve, sleep, Wilson disease, and cortical cytoarchitecture, his 1925 treatise clarifying much of the prevailing confusion about the extent of the different areas and their characteristics. As a result of a paper on accelerated dementia, von Economo narrowly escaped having his name attached to what is now known as Creutzfeldt–Jakob disease. His published account of encephalitis lethargica (May 10, 1917)6567 immediately followed that of Cruchet of Bordeaux (April 27, 1917) and the latter began a squabble, loudly claiming that precedence which was then considered important; as delicately adjudicated by van
Bogaert, he failed in his claim, because von Economo had defined the condition as a single disease entity, which Cruchet and his colleagues had not.6473
von Gudden, Bernhard Aloys
(1824–1886) See Gudden. He demonstrated the presence of both crossed and uncrossed thicknesses, mounted upon suitable holders, fibers in the optic nerve and showed that for the semi-quantitative examination of the secondary thalamic atrophy occurs after a sense of touch. lesion of the occipital cortex.
von Frey hairs Bristles of varying
von Frey, Max Originator (1895) of the specificity theory of sensation, he considered that heat, cold, touch, and pain were the four specific modalities, each subserved by specific receptors and fibers. He believed that skin receptors are differentiated with respect to the lowest threshold to particular energy categories: Meissner corpuscles and hair cells for touch, Ruffini end-organs for warm, Krause end-bulbs for cold, and free nerve endings for pain. These opinions are no longer held.
von Gierke disease (glycogenosis type 1) A recessively inherited deficiency of glucose-6-phosphatase, leading to the deposition of glycogen in the liver and kidneys. Clinically, obesity, hepatomegaly, renal impairment, lactic acidosis, and failure to thrive are the most obvious features; seizures represent the only neurological problem.6568 See glycogen storage diseases.
von Hippel, Eugen (1867–1939) German ophthalmologist who trained in Heidelberg, where he became assistant to Leber, working mainly on angiomatosis retinae. He later became Professor at Halle and then at Go¨ttingen. von Hippel did not report the autosomal dominant inheritance of the condition named for him, nor its intracranial complications, nor the occurrence of pancreatic cysts, pheochromocytomas, and renal and pancreatic tumors which may also be features of the disorder; such insights were the work of Arvid Lindau (1926).
von Hippel-Lindau disease
(cerebro-retinal angiomatosis: OMIM 193300) A rare, dominantly inherited, multisystem tumor syndrome with variable expression, in which diffuse hemangiomatoses are found (in descending order of frequency) in the retinas, adrenal glands, cerebellum, spinal cord, and von Graefe cramp See kidney.2908 The gene is carried on the short blepharospasm. arm of chromosome 3 at 3p25–p24. Renal carcinoma, multiple visceral cysts, von Graefe sign Lid lag—the failure of and pheochromocytoma are important and the upper lid to maintain its normal position specific complications; cerebral tumors are relative to the globe during down-gaze, detected by enhanced MRI in 70% of cases. although the lid descends normally with eye Endolymphatic sac tumors, which can cause closure. The sign is an inconstant feature of tinnitus or deafness, are also described. hyperthyroidism, and is also seen in facial The diagnosis is likely if a patient with a nerve palsy (in which, however, there is positive family history of von Hippel– ptosis of the brow) and in myasthenia Landau disease (VHL): gravis.2540 See also pseudo-Von Graefe sign.
von Graefe syndrome See chronic progressive external ophthalmoplegia, progressive external ophthalmoplegia.
von Graefe, Friedrich Wilhelm Ernst Albrecht See Graefe. von Graefe–Sjo¨gren syndrome Figure V–3 Konstantin von Economo
spinocerebellar ataxia, often with mental retardation.6571
A. Has more than one retinal or cerebellar hemangioblastoma; or B. Has an isolated lesion in association with a visceral manifestation of the disease such as renal cell carcinoma or pheochromocytoma, and, possibly, multiple pancreatic cysts; or C. When there is only one manifestation in the presence of a positive family history.
In the absence of a family history of von (Hallgren syndrome) A recessively inherited Hippel–Lindau disease, the presence of two or more retinal or cerebellar condition characterized by pigmentary hemangioblastomas, or one retinal degeneration, deafness, and
von Mickulicz disease hemangioblastoma with one visceral tumor, is required for diagnosis. The condition was first described in England by Collins in 1894, but it was von Hippel who 10 years later recognized that the lesions were hemangioblastomas,3060 while Lindau reported the cerebellar features. The abnormal gene is found at 3p25, a site normally possessed of tumorsuppressant activity.
von Mickulicz disease Sarcoidosis
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von Soemmerring, Samuel Thomas See Soemmerring.
‘‘to pass by,’’ which actually gives a better feeling for the abnormal verbal output.
von Stein tests 1. Performance of the Romberg test while the patient stands on one leg or with one foot in front of the other. This adds sensitivity but subtracts specificity; in a positive test, it also requires the examiner to be very vigilant. 2. Tilttable tests.
Vulpian sign (Pre´vost sign) The tendency of the eyes to turn toward the side of a cortical lesion and thus away from the paralyzed side, as after a hemispheric stroke. The integrity of the frontal eye fields appears necessary for normal deviations to occur in either direction, but the sign does occur with some more posterior lesions in the right hemisphere and, according to the original publications, with deep lesions as well.2483
von Monakow See Monakow.
von Stockert phenomenon The prompt induction of sleep by certain visual stimuli in subjects who have recovered from an acute attack of encephalitis lethargica.
von Monakow bundle See
von Stru¨mpell, E.A.G.G. See
affecting the parotid glands.
rubrospinal tract.
Stru¨mpell, E.A.G.G.
von Monakow reflex See lateral foot von Willebrand’s knee A loopingvon Monakow syndrome See anterior choroidal artery syndrome.
forward of crossing fibers in the optic chiasm, such that a lesion of the posterior part of the homolateral optic nerve also affects these fibers, causing a field defect in the opposite eye.
von Recklinghausen disease See
vorbeirenden (Ger, talking past [or
reflex.
neurofibromatosis.
beside] the point) Although this word is used to describe the characteristic feature of von Recklinghausen, Friedrich Ganser syndrome, Ganser never used it Daniel (1833–1910) See Recklinghausen. himself, preferring verbeigehen, translated as
Vulpian, Edme´-Felix-Alfred (1826–1887) French physician, a pupil of Flourens who assisted him to enter medical school in Paris. Vulpian later worked with Charcot at the Salpeˆtrie`re, where he later succeeded Cruveilhier as professor of pathological anatomy. A retiring man, he was somewhat overshadowed by Charcot, although considered an outstanding teacher. His research output included studies of peripheral nerve regeneration, the scapuloperoneal syndrome, the chromaffin system, the motor end-plate, and the pathological anatomy of the spinal cord.2066
Vurpas reflex See buccal reflex.
w Waaler anomaly (hydrocephalus, costovertebral dysplasia with Sprengel deformity) A dominantly inherited congenital dysmorphic syndrome characterized by white forelock, deafness, and numerous musculoskeletal abnormalities affecting the face, ribs, spine, and limbs.
Wada Test The intracarotid injection of sodium amylobarbitone, given in order to ascertain the lateralization of the speech centers in patients under consideration for excision of a temporal lobe for the management of intractable seizures.3207 By causing temporary (10 min) inactivity of the injected hemisphere, the functions of the other one can be assessed, although Waardenberg syndrome 1. (van questions to do with its interpretation have der Hoeve–Halbertsma–Waardenburg– been discussed.4270 The technique was Klein syndrome) A relatively common described in 1949 by Dr. Jun Wada of dominantly inherited syndrome Vancouver, Canada, but it is likely that the characterized by nerve deafness, use of functional MRI will make it obsolete heterochromia iridis, confluence of the in the foreseeable future. eyebrows (synophrys), a white forelock, lateral displacement of the lacrimal Waddell signs Physical findings that canthi, abnormal skin pigmentation, suggest that the back pain complained of by 6579, 6578 and impaired vestibular responses. a patient has its root in some behavioral In a variant form, Mende syndrome, the disturbance. The signs are grouped into five features of Down syndrome are also present. classes:6580 2. A singularly rare form of 1. Tenderness which is superficial (dermal) acrocephalosyndactyly (variously type III or or nonanatomical. (See also cellulalgia, V), characterized by hypertelorism, facial skin roll test.) dysmorphism, syndactyly of the hands, and 2. Simulation tests, which give the patient 6251 abnormal genitalia. See also Apert the impression that a test is being syndrome. performed, when actually it is not. Back Waardenburg, Petrus Johannes (1886–1979) A Dutch ophthalmic geneticist working in Utrecht.
3. Distraction tests, such as the examination of straight-leg raising with the patient in the lying and then in the sitting position. In many cases found not to have structural pathology, the test is painless when the subject is seated. 4. Regional disturbances. ‘‘Giving way’’ of many muscle groups that cannot be explained on a localized neurological basis and sensory disturbances following a glove-and-stocking distribution (often terminating abruptly at the groin or shoulder) rather than in a dermatomal pattern are examples. 5. Behavioral and verbal overreaction to the manipulations of the examiner.
Such signs were shown to correlate with each other, but not with the presence of organic causes for back pain. (After Waddell G, McCulloch JA, Kummell E, et al. Nonorganic physical signs in low back pain. Spine 1980;5:117–25.)
Wadia–Swamy spinocerebellar degeneration A dominantly inherited
cerebellar ataxic syndrome, characterized also by unusually slow saccades and ocular 6586 pain felt with downward compression on pursuit. the head or rotation of the patient’s shoulders and pelvis in the same plane are examples.
Wagener retinopathy See Keith–Wagener Scale.
Waggoner syndrome
1058
Waggoner syndrome A recessively
commands indicates the spinal cord is intact. inherited syndrome characterized by mental This procedure is used routinely in some retardation and agenesis of the cerebral white centers. Somatosensory evoked potential monitoring is an alternative in surgical matter.6589 situations where the possibility of spinal cord injury exists. (Adapted from the 2001 Report Wagner syndrome of the Nomenclature Committee of the (Wagner–Unverricht syndrome, American Association of Electromyography Wagner–Hepp disease, Potain and Electrodiagnosis.19 Reproduced by kind dermatomyositis, Bergouignan edematous permission of the AANEM.) polymyositis) See dermatomyositis.
Wagner von Jauregg, Julius
waking cataplexy See sleep paralysis. (1857–1940) German physician, awarded the Nobel prize in 1927 for his introduction of malarial treatment for general paresis in waking epilepsy Generalized seizures 1918, which he had actually first proposed occurring only during the waking hours. 40 years before. Wagner, Ernst Leberecht (1829–1888) German physician who described acute generalized polymyositis in 1863.6591
Waldenstro¨m macroglobulinemia (hyperviscosity
See persistent vegetative state.
wake-up stroke The first awareness of a neurological deficit when a patient wakes, usually indicating an ischemic infarct that had occurred during sleep. wake-up test A procedure used most commonly in spinal surgery. During critical portions of an operation in which the spinal cord is at risk of injury, the level of general anesthesia is allowed to decrease to the point where the patient can respond to commands. The patient is then asked to move hands and feet, and a movement in response to
(1888–1974) English physician who discovered the beneficial effect of physostigmine in myasthenia gravis in 1934. For some months she had been trying the effect of a number of different agents on a close friend with the disease6600 but experimented with this one on a hospital patient after discussing the similarity of myasthenic symptoms to those of curare poisoning with Dr. D. Denny-Brown, who was then consultant to the London hospital in which she was a junior staff member.3366 She was also the first to describe hypokalemia in familial periodic paralysis.
Walker–Warburg syndrome
(lissencephaly, encephalo-optic dysplasia; oculocerebral malformative syndrome; muscle–eye–brain disease; cerebro-ocular dysgenesis; cerebro-oculo-muscular syndrome; retinal dysplasia with hydrocephalus; hydrocephalus, agyria, retinal dysplasia, and encephalocele/HARD E syndrome, Fukuyama-type muscular dystrophy) A lethal recessive congenital a-dystroglycanopathy characterized by cobblestone lissencephaly (cortical agyria with a lack of cortical laminations; type 2 lissencephaly), congenital muscular dystrophy with contractures, cerebellar and pyramidal tract aplasia, callosal agenesis, aqueductal stenosis with severe hydrocephalus, ocular abnormalities such as buphthalmos, micro-ophthalmia, corneal opacities, and retinal dysplasia and detachment, hypoplasia; atrophy of the optic nerve and macula and colobomas also occur, all in the absence of such known causes as toxoplasmosis, cytomegalovirus, or other viral disease.746, 6757, 4555 Other manifestations include seizures, severe mental retardation, the Waldeyer, Heinrich German physician who formulated the concept that Dandy-Walker malformation, and encephalocele. HARD E is the the unit structure of the nervous system is acronym for Hydrocephalus, Agyria and the ‘‘neuron,’’ which he so named in 1881. absent cortical laminar structure, Retinal Dysplasia Encephalocele,6606 a Walker effect Induced fatigabilty of condition that is usually lethal during the remote muscles (e.g., ptosis) after the first year of life. forearm muscles have been exercised The condition has been mapped variously repeatedly with an inflated blood pressure to 9q34 (POMT1); 14q24 (POMT2); and cuff occluding the arm circulation, and then 9q31 (fukutin), as have some of the other removed. Temporarily high lactic acid levels conditions listed above.6335 Diagnostic have been suggested as the cause. criteria have been suggested.1671 Muscle–eye–brain disease is a similar but possibly less severe variant; both are Walker syndrome See Marden– genetically heterogeneous. Walker syndrome.
syndrome) A syndrome characterized by excessive IgM production and circulation following the uncontrolled proliferation of lymphocytes and plasma cells. It occurs Wagner–Hepp disease See Wagner either in isolation among elderly men syndrome. (primary macroglobulinemia) or as a paraneoplastic syndrome associated with Wagner–Unverricht syndrome multiple myeloma and leukemia. Clinical See Wagner syndrome. characteristics include easy bruising and bleeding, anemia with systemic malaise and WAGR syndrome A rare syndrome fatigue, chorioretinopathy with retinal characterized by the association of Wilms hemorrhages, optic disk edema, focal tumor, Aniridia, Genital abnormality, and cerebral deficits, sensorimotor peripheral mental Retardation. The responsible gene neuropathy, hepatosplenomegaly, maps to 11–p13. lymphadenopathy, and Raynaud syndrome. Laboratory findings include anemia, Waida dystrophy See benign raised ESR, abnormal protein X-linked muscular dystrophy. immunoelectrophoresis, and hyperviscosity of the serum.6596 WAIS, WAIS-R Acronyms for the Wechsler Adult Intelligence Scale (Revised), Waldenstro¨m syndrome See acute the most used of all the comprehensive thyrotoxic encephalomyelopathy. intelligence tests available.
wakefulness without awareness
Walker, Mary Broadfoot
Ward–Romano syndrome
1059
Other variant forms include those due to mutations in POMT1, associated with congenital muscle dystrophy, microcephaly, and mental retardation but without structural brain changes on MRI;1404 and o-mannosyltransferase 2 deficiency (14q24.3, POMT2), a recessively inherited form which is clinically similar to the above.4992
walking reflex (stepping response) When a baby is supported upright over a table and its feet allowed to come into contact with the surface of the table, reciprocal flexion and extension of the legs is induced, simulating walking. The reflex normally disappears after the age of 6 weeks.
Wallenberg syndrome (Vieusseux– Wallenberg syndrome) See lateral medullary syndrome.6608
Wallenberg, Adolf (1862–1949) German neurologist who graduated from Heidelberg and worked in Danzig, where he was elected titular professor of neurology. Forbidden to publish by the Nazi re´gime, he left Germany for Oxford, moving to the United States in 1943. The syndrome named for him is his major legacy, but he also published important work on poliomyelitis, cerebellar vascular disease, and neuroanatomy.
anterior root lie in the multipolar cells of the anterior grey cornu of the cord, and the trophic center for the fibres of the posterior root in the cells of the ganglion in this root.’’ No more succinct description has yet been provided.
Wallerian degeneration (axonal degeneration) Those changes occurring distal to the site of transection of a nerve fiber, and thus in that part of an axon separated from its perikaryon. They are characterized by fragmentation, dissolution, and removal of the myelin sheath and the subsequent departure of Schwann cells, and by the dissolution of the axis cylinder distally, as a result of failure of the energy processes required to maintain the exclusion of calcium ions from the interior of the cell. Similar changes also occur for a very short distance in a proximal direction, and the neuronal cell body swells and shows a degree of chromatolysis. These events were first observed in 1850 by Waller6610 in the glossopharyngeal nerve of the frog.
wallet neuritis See piriformis syndrome.
wall-eyed bilateral internuclear ophthalmoplegia syndrome
(WEBINO syndrome) Lateral deviation of both eyes (exotropia) and loss of the power of Waller, Augustus Volney convergence, with bilateral internuclear (1816–1870) English physician and physiologist who lived in France for much of ophthalmoplegia, as a result of bilateral midbrain lesions affecting the nuclei of both his childhood, graduating from medical and both median longitudinal school in Paris. He practiced in London for a medial recti fasciculi.6093 few years and continued his physiological research, studying nerve regeneration in the frog (1860) and pointing out that a divided Wallgren, Arvid Johan nerve fiber will only survive when it retains (1889–1973) Swedish physician who described aseptic meningitis. its continuity with its cell body and that degeneration thus will only occur distal to the site of injury. He left England in 1851 to Walsh, Frank Burton (1895–1978) work with Budge in Berlin on pupillary Canadian neuro-ophthalmologist, born and innervation before going in turn to Paris, trained in Manitoba, who was invalided out Birmingham, and finally Geneva, where he of the army after active service in World War died. I. He later trained in ophthalmology, from which he developed the specialty of neuroophthalmology at the Willmer Eye Waller’s Law ‘‘If a spinal nerve be Institute, Baltimore, where he was in his divided, the peripheral parts degenerate completely. If the anterior root be divided, later years professor emeritus. Described as an ‘‘optimath’’ (one who never ceases to the peripheral fibres degenerate. If the posterior root be divided, the central fibres learn), he provided the world with superb degenerate. If the ganglion on the posterior teaching in his subspecialty, epitomized by root be divided, both central and peripheral his classic book Clinical Neuro-Ophthalmology, nerve fibres degenerate. Hence it is assumed which reached its third edition before his death; by his co-authored Neuropathology of that the trophic center for the fibres in the
Vision; and by over a hundred original clinical papers.
Walshe, Sir Francis (1886–1973) English neurologist, philosopher, writer, and critic, the outstanding intellectual of British neurology in his time. He trained in medicine at University College Hospital, where he was at one time house surgeon to Sir Victor Horsley, and with Sherrington at Oxford. He was later appointed to the staff of University College hospital and of the National Hospital, Queen Square. He was at various times in his career the editor of Brain, and president of the Royal Society of Medicine and of the Association of British Neurologists, which he had helped to found. He was elected to fellowship of the Royal Society. He was a devout admirer of HughlingsJackson and, like him, was a supremely capable clinical observer who deduced physiology in the wards rather than experimenting in the laboratory. His books, in particular his textbook of neurology and Critical Studies in Neurology, reflect his precise critical analyses of neurological mechanisms and phenomena. A highly principled man, he accepted no government salary for his hospital work because he remained unreconciled with the concept of the British National Health Service. He was a towering figure in neurology; yet, it must be accounted as a regrettable loss to the advancement of learning that he was also a polemicist of mean repute whose emotional defense of his opinions did nothing to encourage the uncertain, while his barbed comments, commonly appearing in academic journals, provided brief entertainment for the reader but must have inhibited constructive discourse. Nevertheless, seven of his publications are referenced in this book.6620, 6626, 6623, 6624, 6622, 6621, 6625
waning discharge A repetitive discharge gradually decreasing in frequency or amplitude before it stops. cf. myotonic discharge.
Warburg syndrome See Walker–Warburg syndrome, HARD þ E syndrome. Ward–Romano syndrome Abnormal prolongation of the Q-T interval on the EKG, leading to cardiac arrhythmia and reduction of cerebral perfusion sufficient
warehouse worker’s headache to cause occasional seizures, as in Stokes-Adams attacks.5025
1060
Wartenberg Pendulum Test
With the patient sitting with his legs hanging over the side of the bench, the warehouse worker’s headache examiner extends the knee and then drops it Headache due to chronic, mild to moderate, to swing freely under the action of gravity. and sublethal occupational carbon monoxide The pattern of the swinging movements reflects the balance of suprasegmental motor poisoning that occurs when internal influences (mainly affecting the quadriceps), combustion engines are run in an enclosed and is decreased with spasticity. The test was space with poor ventilation. Apart from originally introduced by Wartenberg to the nonspecific headache, nausea, light-headedness or syncope, and rarely more assess rigidity in patients with Parkinson disease,6659 in whom a marked reduction in protracted loss of consciousness are typical 10 the maximum velocity of the first swing has features. been shown, while the reduction in spastic limbs is much less.899, 898 warfarin embryopathy A congenital dysmorphic syndrome occurring in infants born to mothers treated Wartenberg signs 1. Decreased arm with warfarin during pregnancy. The clinical swing on walking, in cases of pyramidal, features include microcephaly, blindness cerebellar, or basal ganglion disease. 2. with optic atrophy, seizures, hypotonia, Active flexion of the terminal phalanges of epiphyseal lesions, and mental and the four fingers of a paretic hand about a firm developmental delay.1628 object, or against resistance offered by the examiner’s fingers similarly flexed, is followed by adduction, flexion, and Warkany syndrome (trisomy 8 opposition of the thumb (in a normal syndrome) A congenital dysmorphic syndrome with great phenotypic variability, extremity the thumb remains in abduction characterized by facial and skeletal anomalies and extension); this pathological associated and by any combination of mild physical and movement is seen in pyramidal tract disease.6656 3. Intense pruritus of the nostrils mental retardation, corneal opacities, and the tip of the nose felt by patients with nystagmus, callosal agenesis, aqueductal cerebral tumor.6652 4. Abduction of the little stenosis with hydrocephalus, seizures, and 1495 finger in cases of ulnar nerve palsy6653 developing hypertonia. (Wartenberg’s oriental prayer sign). 5. Reduced vibration felt in the upper eyelid warm-up effect The reduction in when the patient with facial palsy closes his myotonic stiffness and weakness with eyes.6651 6. The ‘‘useless arm’’ as a sign of a exercise; a peripheral rather than a central parietal plaque in multiple sclerosis. 7. The phenomenon due to altered excitation and finger flexor reflex (a pyramidal sign with contractile performance.1275 Paradoxical myotonia represents the opposite condition, excessive flexion of the fingers). 8. Diminished abduction of the thumb in cases the myotonia worsening with activity. of median nerve palsy. 9. The corneomandibular reflex. warning headache See sentinel headache. Wartenberg syndrome 1. See Parry–Romberg syndrome. 2. Brachialgia Wartenberg cheiralgia statica paresthetica. See carpal tunnel paresthetica (nocturnal arm syndrome.6654 dysesthesias, tired arm syndrome) Pain, paresthesias, and numbness following Wartenberg wheel A small wheel intercurrent stretching or compression of upon a handle, set with radially projecting peripheral nerves and described as a syndrome of the superficial radial nerves.6657 spikes, which is run over the surface of the Handcuff neuropathy is identical.6001, 6654 skin in testing superficial pain sensation. Use of the instrument is ill-advised today due to its capacity for transmitting such diseases as Wartenberg migrant sensory AIDS and hepatitis. neuritis A self-limiting condition characterized by the occurrence of pain and numbness in the territory of sensory nerves Wartenberg winking-jaw which have suffered a stretching injury.4180 phenomenon (corneomandibular
reflex, pterygocorneal reflex, reverse Marcus Gunn phenomenon, inverse Marcus Gunn phenomenon) Involuntary deviation of the jaw to the opposite side when the cornea is stimulated; seen with supranuclear lesions of the V cranial nerve.6658
Wartenberg, Robert (1887–1956) Lithuanian-American neurologist who graduated cum laude from Rostock, worked with Foerster, and headed the neurology service at Freiburg before emigrating to the United States in 1935 (after his teaching permit had been withdrawn by the Nazi government). He was eventually made clinical professor at San Francisco where he built and led a strong teaching, research, and clinical service. His publications were eclectic; initially, they were much influenced by the epidemic encephalitis raging in Europe, while later he became interested in the employment of new technologies for the examination of neurological disease, and in the clinical examination. In this area, his book The Examination of Reflexes was acclaimed as a perfect simplification of an hitherto complex subject. He was a superb clinical neurologist, and some of his clinical insights are indicated in the preceding entries.5606, 5084 His facility with the English language was admirable, but his detailed editorial corrections of F.M.R. Walshe’s book Diseases of the Nervous System were not appreciated by its author.
Wassermann, August Paul von (1866–1925) German bacteriologist, who worked mainly in Berlin. He described the Wassermann reaction for the diagnosis of syphilis, a modification of the Bordet–Gengou complement-fixation reaction in 1906.
wasting Atrophy of skin, bone, or muscle. water babies A term applied to children suffering from pitressin-resistant diabetes insipidus, fancifully emulating the title of the classic children’s book by Charles Kingsley.
water-deprivation headache A suggested primary headache, the pain arising from the meninges with accompanying impaired concentration and irritability. The pain can be localized or generalized, is accentuated by head movement, and is relieved in most cases within 30 min by drinking water.677
Weber, Sir Herman David
1061
Waterhouse, Rupert (1873–1958) English physician who in 1911 gave the definitive account of the syndrome bearing his name.6666 Friedreichsen published 7 years later. Waterhouse–Friedreichsen syndrome Adrenal hemorrhage leading
wave-and-spike phantom See phantom spike and wave.
waveform The shape of a wave. We Move (Worldwide Education and Awareness for Movement Disorders) A nonprofit organization providing education and awareness for movement disorders, including treatment information for patients and medical professionals. Web site: www.wemove.org/. See also WE MOVE’s Movement Disorder Virtual University at the Web site: www.mdvu.org.
designates the relationship between the magnitude of the stimulus and that of the response, the sensation being a logarithmic function of the stimulus as the sensation increases only arithmetically when the stimuli increase geometrically.6609 The law was elaborated by E.H. Weber.
Weber syndrome (Weber–Gubler syndrome, Leyden paralysis, hemiplegia alternans superior peduncularis, syndrome of the cerebral peduncle) Unilateral III nerve palsy with contralateral hemiparesis, due to a lesion of the mesencephalon.6684, 6685 The syndrome is named for H.D. Weber, who described it in 1863, although Gubler had weakness A decrease in the force of muscular activity exerted in the performance already described it 4 years previously. of a resisted task, as judged by the patient or Weber Test A test of auditory function. the examiner. watershed areas The boundary zones A vibrating tuning fork placed in the scalp in between the territories of the three major weakness of one leg with ease of the midline should be heard equally by each cerebral arteries (anterior/middle; middle/ ear but will be heard more loudly in the ear posterior) of the brain, representing the sites falling A lacunar syndrome suspected to affected by conduction (middle-ear) be due to a lesion of the brainstem, in which most likely to show evidence of infarction deafness. In the presence of nerve deafness, the hypertensive patient notes mild when cerebral perfusion is globally the sound will be localized to the normal ear. diminished, as occurs with impaired cardiac weakness of one leg, or of the arm and leg, Thus, if the sound is heard more loudly in with a marked tendency to fall toward that output and decreased perfusion pressure of the right ear, then either there is conductive 2106, 2092 side. the brain. deafness on the right or nerve deafness on the left, and tests of acuity will be needed to wear and tear pigment See determine which is the case. The test was watershed infarcts (border-zone, lipofuscin. described by E.H. Weber in 1834. borderline, distal field, extraterritorial, low-flow, or terminal zone infarcts) Cerebral wearing-off effect See end-of-dose Weber, Ernst Heinrich infarcts of two types, each occurring at the deterioration. (1795–1878) German anatomist and point furthest from the systemic arterial physiologist, born and educated in supply: The macro-type occurs between the weaver mutant A murine mutation Wittenberg, where he graduated with a territories of supply of the major arteries causing ataxia. thesis on the sympathetic nerves. (anterior, middle, and posterior cerebral). The micro-watershed infarct is sited between Weaver syndrome A dysmorphic Weber, Frederick Parkes the columnar, penetrating arteries of the syndrome, manifesting also accelerated (1863–1962) The son of Sir Hermann David cortex. Both usually occur as a result of skeletal maturation, flat occiput, Weber, he studied medicine at Cambridge systemic hypotension with critical reduction hypertelorism, hoarse voice, camptodactyly and St. Bartholomew’s Hospital, London, as in cerebral blood flow. In addition, and clinodactyly, congenital cardiac well as in Paris, and Vienna and was a prolific ‘‘internal’’ watershed infarcts occur in the anomalies, hypertonia, and mental and writer (over 1200 papers published). centrum semi-ovale between the arterial developmental delay.6680 Neurological publications included studies territories of the deep branches of the basal of amyotrophies and cerebral tumors, but he cerebral arteries and those of the superficial Weaver–Williams syndrome is best known for his description of multiple pia-arachnoid plexus and also between the A congenital dysmorphic syndrome, hereditary developmental angiomata territories of the major arteries supplying the 1085 characterized also by deafness, dental and (telangiectases) of the skin and mucous membranes cerebellum. See also transcortical skeletal malformations, microcephaly, and associated with recurring haemorrhages aphasia. mental and developmental delay.381 (Rendu–Osler–Weber hemangiomatosis) (London: Lancet, 1907;2:160–2), Watson–Schwarz Test A chemical Weber law (Weber–Fechner Law) The Weber–Christian disease, Weber disease reaction of value in the diagnosis of acute variation in the intensity of a stimulus that (localized epidermolysis bullosa), and the intermittent porphyria.6115 Klippel–Trenaunay–Weber syndrome. causes the least appreciable change in sensation maintains an approximately fixed ratio to the strength of the whole stimulus wave A transient change in voltage Weber, Sir Herman David already acting. Thus, perception is represented as a line of differing directions (1823–1918) German-English physician proportional to stimulus strength. This over time. who was born in Germany and graduated in to adrenal failure, complicating meningococcemia. The condition was actually first described by Dr. Arthur Voelcker (1861–1946), an English physician, in a brief report in 1894.The major clinical features are petechiae leading on to extensive purpura, hypotensive hypovolemic shock, and reducing consciousness up to coma.6666
Weber–Christian disease
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Webster Rating Scale A rating scale respiratory tract accompanied by designed to provide a semiquantitative assessment of the disabilities of patients with Parkinson disease. The items scored are bradykinesia, rigidity, posture, arm-swing, gait, tremor, facial movement, seborrhea, speech, and selfcare. As with other scales, this one provides a template for the physical examination and arbitrarily selects common clinical features for scrutiny. See also Hoehn and Yahr Scale, Columbia Rating Scale, Unified Rating Scale.
Wechsler Adult Intelligence Scale (WAIS) A classic psychometric instrument in use for over 30 years, but requiring both training and experience to administer reliably. It is composed of six verbal and five (nonverbal) performance subtests, yielding verbal, performance, and Figure W–1 Frederick Parkes Weber composite (intelligence quotient) scores. A relative retention of abilities on the medicine from Bonn. He became enamored of verbal as opposed to the performance items is commonly used as an indicator of a decline in England and emigrated there, entering as a cognitive functioning. Scores on the student at Guy’s Hospital to re-qualify. Thereafter, he created a successful practice in information and vocabulary subtests are the best measures of original ability, or ‘‘that London; his patients included five prime ubiquitous test factor which appears to be the ministers. statistical counterpart of learning capacity His own clinical research output was plus mental alertness, speed and efficiency.’’ also notable (e.g., the Weber cerebral The scale has been revised (WAIS-R), mainly peduncle syndrome), but it was his son, with respect to scoring.6688 Frederick Parkes Weber (1863–1962), The Wechsler Intelligence Scale for Children whose name is applied to Osler–Rendu– is an adapted form of this test battery. Weber disease, Weber–Christian disease (relapsing febrile nodular nonsuppurative Wechsler Memory Scale panniculitis), Sturge–Weber syndrome, and Weber disease (localized epidermolysis A standardized measurement tool for the assessment of aspects of memory including bullosa). information and orientation, mental control, visual pattern reproduction, and digit recall Weber–Christian disease forwards and reversed.6686 A revised version (relapsing panniculitis) A syndrome of later is now available. adult life characterized by repetitive episodes of pain felt in fatty subcutaneous tissue weckblitz Noise-induced phosphenes, nodules, mainly over the thighs and 6683 occurring in the hypnagogic state and hips. Myopathy is an uncommon commonly associated with disease of the eye complication. The syndrome was named or optic nerve. after H.D. Weber.
Weber–Gubler syndrome See cerebral peduncle syndrome.
WEBINO syndrome See wall-eyed bilateral internuclear ophthalmoplegia syndrome. WebMD A source of medical (including neurological) information for physicians. Web site: http://www.webmd.com/.
wedge hemianopia A sectoral field loss caused by a lesion of the lateral geniculate body.
glomerulonephritis, systemic necrotizing vasculitis of arteries and veins, with eventual necrotizing pulmonary vasculitis and glomerulonephritis.1973 Neurological complications include cranial and painful peripheral (vasculitic) neuropathies, meningism with diffuse meningeal enhancement on MRI, diabetes insipidus, and focal or diffuse brain or cord lesions (stroke, seizures, cerebritis, meningitis); these occur in a quarter of all cases.1704, 4680 Elevated cytoplasmic antineutrophil cytoplasmic antibody (cANCA) titers may be confirmatory, having a specificity of 98% and sensitivity of 96% for active disease and sensitivity of 65% for initial or inactive disease. Dr. Friedreich Wegener (b. 1907) was a German pathologist.
Weichselbaum syndrome Cerebrospinal (meningococcal) meningitis.
Weichselbaum, Anton (1845–1920) German pathologist who discovered the meningococcus as the cause of cerebrospinal fever.
Weigel Test A modified color-sorting test, in which blocks are sorted according to any one of five principles which can be derived.5269
Weigert, Karl (1843–1905) German professor of pathology at Frankfort. Weigert’s myelin stain (1882) was modified by Jakob Pal 6 years later and is known now as the Weigert-Pal stain, but his own modification of the Van Gieson/hematoxylin stain is still in use.
weightlifters migraine An acute exertional headache.4940 See benign exertional headache. Weil disease Infection by Leptospira
icterohaemorrhagica, usually from rodents or other small mammals. The clinical weekend migraine The occurrence of manifestations include fever, severe headache caffeine-withdrawal headaches on Saturdays with meningism, widespread petechiae later in people who do not go to the office on running into purpura, conjunctival weekends. hemorrhages, jaundice due to hepatic necrosis, myalgia, myoglobinuria, and encephalopathy with cranial nerve palsies Wegener granulomatosis and drowsiness, progressing (if untreated) to A granulomatous vasculitis of the upper
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coma. Dr. M.P. Weil, (b. 1884) was a French Weir Mitchell treatment Rest in professor of clinical medicine in Philadelphia physician. isolation, exercise, good food, and massage as he had assisted. The two were close friends and Osler, in his obituary of Mitchell, a treatment for hysteria. quoted Dr. Samuel Johnson’s remark about Weil stain An iron-alum-hematoxylin Richard Mead: ‘‘No man ever lived more in method for staining myelin sheaths, now Weir Mitchell, Silas (1829–1914) the sunshine of life,’’4232 while perhaps less superseded by more effective methods. American physiologist, neurologist, and charitably, Cushing remarked that he was novelist. He was regarded by his father as vain, but had much to be vain about. Weil-Cornell LINCL Scale An ‘‘wanting in nearly all the qualities that go to instrument allowing quantitation of the make a success in Medicine,’’ but was Weisenberg syndrome See deficits of children with late infantile stimulated to investigate the nervous system glossopharyngeal neuralgia. neuronal ceroid lipofuscinosis. It rates by Claude Bernard, under whom he had feeding, gait, motor, disturbances studied in Paris for a year after graduation Weisenberg–Sicard–Robineau (involuntary movements, myoclonus, and from Jefferson Medical College and before syndrome See Collet–Sicard syndrome. 6866 pyramidal signs), and language. returning to Philadelphia. He published extensively in Weiss sign Contraction of the facial pharmacology, toxicology, and physiology Weill–Marchesani syndrome muscles when they are tapped lightly, as both before and after his experience as a (brachydactylyspheroplakia) A recessively occurs in tetany, neurasthenia, inherited congenital dysmorphic syndrome, contract surgeon to the Union forces in the hyperthyroidism, and hysteria.6706 manifesting also short stature, broad skull, American Civil War, collaborating at times with Hammond, but it was his experiences dental anomalies, brachydactyly, myopia, Weiss syndrome 1. A rare congenital in what became a 400-bed neurological ectopia lentis, and sometimes glaucoma syndrome characterized by congenital leading to blindness.6693 The syndrome was hospital under his direction that led to his deafness, dwarfism, obesity, and greatest work, Gunshot Wounds and Other further defined by Oswald Marchesani hypogenitalism, sometimes with mental (1900–1952), an Austrian ophthalmologist Injuries of Nerves (1864), later enlarged as retardation, described by Dr. E. Weiss in Injuries of Nerves and their Consequences working in Mu¨nster, in 1939. 1932.6704 2. A dominantly inherited 4403 (1872), which became a standard text syndrome characterized by craniosynostosis, internationally. In this book, Weir Mitchell medially deviated halluces, and Weill–Reys syndrome See Adie described ascending neuritis, pressure effects syndactyly.6705 pupil, Holmes–Adie syndrome. upon peripheral nerves, neural anatomy and physiology, trophic changes, the overlap of cutaneous sensation, referred sensation, and Weiss, Soma (1898–1942) Weinstein Enhanced Sensory current forms of treatment with accounts of Hungarian-American physician and Test (WEST) A commercial method for physiologist who emigrated to the United 66 patients. A final chapter described testing sensation wherein calibrated forces States in 1920 and trained in medicine at causalgia in complete detail. The 1864 are delivered to intact skin by means of five edition also contains an excellent description Cornell. After further work in Boston, he was force-calibrated monofilaments.6699 of what we call Horner syndrome. Nearly 30 appointed professor of the theory and practice of physick and physician-in-chief at of the patients originally described therein the Peter Bent Brigham Hospital. Most of Weir Mitchell room A hospital room were subsequently re-examined by his son his publications were concerned with occupied by a patient considered by Dr. Dr. John Mitchell (1857–1917), whose Weir Mitchell to have factitious or hysterical findings were published in his book Remote cardiovascular disease, including the elucidation of the mechanism of carotid paralysis, a condition that was briefly Consequences of Injuries to Nerves (1895). sinus syncope.6707 relieved by the emotional trauma she After the war, Weir Mitchell practiced sustained when he set fire to her bedclothes. successfully as a neurologist and continued In this context it should however be noted to publish extensively on the topics of Weiss–Charcot–Baker that when there was a fire in a London syndrome See carotid sinus muscle stretch reflexes (he described what 6707 hospital ward occupied by patients with amounts to the Jendrassik maneuver), ankle hypersensitivity. chronic postencephalitic Parkinsonism, they clonus, erythromelalgia, epilepsy, hysteria were the first out of the building, unassisted. and malingering, the circle of Willis, the Welander distal myopathy A dominantly inherited distal myopathy cerebellum, and numerous other subjects. 71 In the latter half of his life, he published with adult onset, mapped to 2p13. It is Weir Mitchell syndrome nearly a score of historical novels as well as complicated by mild disturbances of (erythromelalgia) The sudden onset of a temperature sensation.6711 See also distal books of poetry, a biography of George vasomotor disorder causing pain, redness, muscular dystrophy, inclusion body Washington, and other medical and and thickening of the terminal phalanges historical tracts, the total amounting to over myositis. and nail beds in the hands and feet, and 250 publications between 1852 and 1917. engorgement of the peripheral veins. The He was elected a Fellow of the Royal Society Welander–Kugelberg– pain is worsened by heat and relieved by (London) on the recommendation of Sir Wohlfart syndrome See hereditary cold. The temperature sense may be William Osler, whose appointment as diminished. motor neuropathy, type 3.
Wellcome Department of Imaging Neuroscience
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dysphasia, cortical receptive aphasia) A form convolutions, predicted the occurrence of Wellcome Department of pseudobulbar palsy, demonstrated the Imaging Neuroscience A functional of fluent aphasia containing verbal and
imaging center with downloadable software. phonemic paraphasias, in which comprehension, repetition, and naming are Web site: www.fil.ion.ac.uk. severely impaired and writing is poor, while grammar, articulation, prosody, and phrase well-leg compartment length are often normal although the actual syndrome A syndrome resulting from speech may be meaningless. The patient is incorrect positioning of the leg, almost not aware of this.2905 exclusively associated with maintenance of It was described by Wernicke in 18746729 the lithotomy or hemilithotomy position for 2 h or more during surgery and due to direct (but also by Bastian in 1869), and occurs with large lesions of the posterior temporal, external compression causing vascular inferior parietal, and lateral posterior insufficiency or hypoperfusion of the calf temporal lobes. It has also been described muscles, or a combination of the two. The common pathway may be hypo-oxygenation, with a right hemisphere lesion (dissociated leading to local ischemia, tissue edema, and a aphasia). The composer Ravel was ultimately so afflicted. fulminant compartment syndrome.2871
Wepfer, Johann Jakob (1620–1695) Wernicke cramp A rare form of local A German physician who wrote the first major treatise on stroke in 1658, in which he showed that the rete mirabile does not exist in the human; described intra- and extracranial occlusion of the carotid artery, transient ischemic attacks, and reversible ischemic neurological deficits; and established that most cases of apoplexy were due to intracerebral hemorrhage or vascular occlusion. He anticipated Willis in his description of the arterial anatomy of the major cerebral arteries. He seems to have been unaware of the decussation of the motor pathways as in cases of stroke; he usually looked for the pathology on the same side as the paralysis, an error corrected during his lifetime by Antonio Maria Valsalva (1666–1738).
muscle cramp precipitated by movement, described by him in a lecture-demonstration in 1904.6732
Wernicke hemianopic pupil Loss of the pupillary reflex when a thin pencil of light is shone exclusively upon the ‘‘blind’’ side of the retina, indicating that the lesion is anterior to the point at which the pupillary fibers leave the optic tract for the superior colliculus, because, when the lesion is more posterior, these fibers are spared, and so pupillary constriction still occurs even when the ‘‘blind’’ retina is stimulated.6731
Wernicke, Karl (1848–1905) German neuropsychiatrist, born in Silesia and dying (after a bicycle accident) in Thuringia. He studied medicine at Breslau and, on graduating in 1870, worked there and in Werdnig, Guido (1844–1919) Vienna under Meynert. He was later Austrian neurologist who spent most of his assistant to Westphal in Berlin and, in 1885, professional life in Graz or Vienna, and who, was elected to the faculty in neurology and independently of Hoffmann, published a psychiatry in Berlin, then Breslau, and, series of papers between 1891–1900 on the shortly before his death, Halle. clinical and pathological findings in infants He left neurology such major legacies as suffering from the disease named for him. his description of the encephalopathy named for him, and the anatomy and Werdnig–Hoffmann disease See phenomenology of dysphasia (1874); he hereditary motor neuropathy, type 1. conceived that sensory aphasia was due to damage to the left temporal lobe where Werner syndrome See progeria.6728 auditory images were stored, motor dysphasia to lesions of Broca’s area, Werner, Otto German physician who, conduction aphasia to the pathways between while still a medical student at Kiel, them, and total dysphasia to lesions of both described the syndrome named for him in areas. The encephalopathy (which he first four siblings. described in his major textbook in 1881) was named for him and for Korsakoff, although Wernicke aphasia (Bastian aphasia, it had been recognized previously by Gayet in 1875. He also described the major cerebral dissociated aphasia, auditory receptive
existence of a brainstem center for lateral gaze, and helped to establish the concept of unilateral cerebral dominance.
Wernicke’s area The posterior part of the dominant auditory association cortex together with the heteromodal cortex on the banks of the superior temporal sulcus, and part of the inferior parietal lobule. Damage to this region leads to Wernicke aphasia. Wernicke–Korsakoff encephalopathy (Wernicke syndrome, polioencephalitis hemorrhagica superior, Meynert amentia, Gayet disease, Gayet– Wernicke syndrome) The association of nystagmus, ophthalmoplegia, cerebellar signs, neuropathy, and inability to record new information (‘‘loss of recent memory’’) as a result of thiamine deficiency, with bilateral pinhead-sized hemorrhages in the mamillary bodies and in the periventricular and periaqueductal gray matter. This classical syndrome was first described by a Swedish physician, Magnus Huss (1807–1890), who had spent the greater part of his career in the study of alcoholic diseases. Stru¨mpell in 1883 and Charcot in the following year also called attention to the association of mental manifestations and polyneuropathy in alcoholism, while Charles Gayet described the pathology in 1875. Wernicke6730 described three cases: the first a seamstress who had developed pyloric stenosis after swallowing sulfuric acid; and the other two alcoholics. He named the disease acute superior hemorrhagic polioencephalitis, considering it to be an infectious process in part because of the symmetrical capillary hemorrhages around the III and IV ventricles, periaqueductal gray matter, etc. Meynert’s account of the amnesic syndrome was as accurate as Korsakoff’s but was published a year later, in 1890. Korsakoff considered the pathology to be cortical and probably vascular.3537,6541 The role of vitamin deficiency in the causation was only established following the studies of thiamine deficiency in pigeons conducted by Peters in 1936. Diagnostic criteria have been suggested975 as follows: Two of the following features are present: Dietary deficiencies Oculomotor abnormalities Cerebellar dysfunction
Western Aphasia battery
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In a variant form, the condition is associated with paraneoplastic nutritional deficiency states.
Wernicke–Korsakoff syndrome A site providing information including definition, symptoms, prevention, signs, tests, treatment, prognosis, and possible complications.
Wernicke–Mann paralysis A form of hemiparesis with remarkable variability in the severity of involvement of different muscle groups, or the inequality of weakness in different muscle groups in a paretic limb during recovery. The sign was described by these authors in 1889 and 1896, respectively.5619 The peronei; knee flexors; extensors of the elbow, wrists, and fingers; and supinators are muscle groups in which functional recovery is the least, compared with their antagonists,645 which leads to the typical posture of the patient with unilateral spastic hemiparesis.
West Haven–Yale Multidimensional Pain Inventory A series of 12 scales
(syndromes of meningitis, encephalitis, and acute flaccid paralysis resembling poliomyelitis). Initial symptoms include malaise, anorexia, nausea and vomiting, headache, myalgias, back pain and arthralgias, lymphadenopathy, and a maculopapular or morbilliform rash lasting for about a week. In a very small percentage of cases, a neurological syndrome follows comprising meningoencephalitis with ataxia, cranial nerve palsies, polyradiculitis, and a pure motor syndrome of acute flaccid paralysis resembling poliomyelitis or acute inflammatory polyneuropathy, sometimes asymmetrically. If the anterior horn cell damage is severe, disabilities may be permanent.953 Rarely, Parkinsonism, tremors, or myoclonus may be seen. Diagnosis depends predominantly on demonstration of West Nile virus (WNV)-specific IgM antibodies in cerebrospinal fluid. A profound lymphopenia and elevated serum lipase or ferritin levels are suggestive laboratory findings. Recovery from neurological sequelae of WNV infection including cognitive deficits and weakness may be prolonged and incomplete.1484 http://www.cdc.gov/ncidod/dvbid/ westnile/ is a Web site from the US Centre for Disease Control addressing all aspects of this infection.
examining the impact of pain on people’s lives, the responses of others to their communications about pain, and the extent West syndrome (infantile spasms, to which they are able to participate in usual massive infantile spasms, blitz-nick-salaam daily activities.3394 kra¨mpfe) The most common epileptic encephalopathy of infancy and childhood West Indian (Jamaican) with onset before the age of 1 year, amblyopia Optic atrophy occurring in characterized by brief muscle contractions subjects with Jamaican neuropathy. resembling massive myoclonic attacks, sometimes with tonic or atonic West Indian spastic-ataxic components,6735 and accompanied by a syndrome The insidious onset of characteristic chaotic EEG appearance of deafness, visual scotomas, optic atrophy, high-voltage bursts of slow waves and spikes ataxia, and spasticity associated with pattern known as hypsarrhythmia. HTLV-1 infection. Some patients have more Microphthalmia, colobomas of the optic spasticity, some more ataxia.4453 See tropical nerve and retina with optic atrophy, spastic paraparesis. pigmentary retinopathy, strabismus, nystagmus, dementia, microcephaly, and callosal abnormalities have also been West Nile encephalitis Direct infection of brain due to a flavivirus member recorded in affected children. The cause of the condition is not known. of the togavirus group of arboviruses, Usually the syndrome consists of a endemic in Israel and Egypt, but also further characteristic triad: infantile spasms, arrest east and west, mainly affecting elderly adults. It is now the most common cause of of psychomotor development, and EEG hypsarrhythmia, although any one element epidemic viral encephalitis in the United may be missing. The spasms may be flexor, States. Clinical syndromes include asymptomatic infection, West Nile fever and extensor, lightning, or simple nodding, but West Nile neuroinvasive disease (WNND) most commonly they are mixed. The age of
onset peaks between 4 and 7 months and is always before the end of the first year. Boys are more commonly affected. The prognosis is generally poor.6833 The syndrome may be divided between two groups. The symptomatic group, characterized by the previous existence of brain damage signs (psychomotor retardation, neurological signs, radiological signs, or other types of seizures) or by a known etiology (metabolic, dysgenetic, or infectious, or due to perinatally acquired disease or tumors such as tuberous sclerosis.2462 A smaller, cryptogenic group is characterized by a lack of previous signs of brain damage and of known etiology. The prognosis appears to be partly based on early therapy with adrenocorticotrophic hormone or oral steroids. (Adapted from Commission for Classification and Terminology, ILAE. Proposal for Revised Classifications of Epilepsies and Epileptic syndromes. Epilepsia 1989;30:389–99.) Variants are as follows: Infantile spasms, hemimegalencephaly, and hemihypsarrhythmia, a congenital epileptic syndrome manifesting infantile spasms with hypsarrhythmia, polymicrogyria, megalencephaly, and heterotopias. Infantile spasms, X-linked (OMIM 308350), an inherited form in which the onset of infantile spasms, myoclonic seizures, and mental and developmental deterioration is in the first few months of life.1186 Forms characterized by spasms and mental retardation without hypsarrhythmia but with paroxysmal EEG abnormalities; with spasms and hypsarrhythmia but without mental retardation; with hypsarrhythmia and mental retardation but without spasms; with mental retardation, hypsarrhythmia, and staring seizures (see Lennox–Gastaut syndrome) with onset before 3 months of age; and Aicardi syndrome. See also salaam attacks.
West, W.J. (1794–) English general practitioner working in Tunbridge Wells, whose son James was affected by repetitive flexion seizures (salaam attacks in the words of Sir Charles Clarke, whom he had consulted), pareses, and mental deterioration. He reported the syndrome in a letter to the Lancet in 1841. Western Aphasia battery A formal, validated scale for assessing language, in particular spontaneous speech, naming, repetition, comprehension of oral language, reading, and writing, but also
Western equine encephalitis apraxia and constructional and visuospatial tasks.3401
Western equine encephalitis Direct infection of brain by an a-virus member of the togavirus group, a virus with a reservoir in birds and small rodents. The condition is seen mainly in the central and western United States and in Southern Canada. The major vector is a mosquito; despite the name, horses play no role in transmission. Clinically, the encephalitis is relatively mild and subclinical infection is common. The usual course in adults is for the mild encephalitis to lead on to recovery within 10 days. The illness may be more serious in small children, among whom many exhibit seizures, pyramidal signs, or behavioral problems.2063 See also the CDC Fact Sheet: Western Equine Encephalitis.
Westphal maneuver The use of kinesthetic clues in order to identify large print, by dint of sweeping movements of the eyes or of the head and neck, named for A.K.O. Westphal.
Westphal nucleus See Edinger– Westphal nucleus. Edinger’s paper (1885) was 2 years earlier than that of C.F.O. Westphal. Westphal reflex See knee jerk. Westphal sign Abolition of the knee jerks in tabes dorsalis, named after C.F.O. Westphal. Erb described the same thing independently, but at the same time. Westphal syndrome 1. Agoraphobia; the dread of open spaces, nicely described by Westphal in 1872, but also previously noted by the Dutch physician Pieter Forest (1522–1597) in 1592 and by many others subsequently (Wepfer in 1727, de Sauvages in 1768, Stoll in 1788, Herz in 1791, Bruck in 1832, Reynolds in 1855, Delasiauve in 1854, Perroud in 1863, and Kohler in 1867). This is thus a prime example of an eponymous attribution which is wholly unjustified, although one must credit Westphal with the generation of the term and with an accurate description. The author defends the inclusion of this condition in a book that claims a neurological leaning on the grounds that patients complaining of dizziness or vertigo
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commonly present to neurologists and many whiplash injury (cervical acceleration are ultimately found to have agoraphobia. injury syndrome, whiplash-associated 2. See familial periodic paralysis. disorder) An acceleration/deceleration mechanism of energy transfer to the neck, Westphal, Alexander Karl Otto described by Crowe in 1928 and more fully (1863–1941) German physician, the son of by Gay and Abbott in 1953. Erichsen however described ‘‘railway spine’’ in the Karl Westphal. He trained at Berlin and nineteenth century and it is the same studied with Erb and others in psychiatry condition. It may result from rear-end or and neurology, eventually becoming professor of neurology at Bonn. He described side-impact motor vehicle collisions but can also occur during diving or other mishaps. In pathologic sleep attacks as well as the humans, the injury is usually of the phenomena now given his name. hyperextension-flexion type.4951 The impact may result in bony or soft-tissue injuries Westphal, Carl Friedreich Otto (whiplash injuries) which in turn may lead to a (1833–1890) German psychiatrist, variety of clinical manifestations (whiplashneurologist, and anatomist who held the associated disorders).5996 The definition chair of psychiatry in Berlin, where his son should exclude damage to the cervical disks, became professor of neurology. He gave the the nerve roots, or the spinal cord.971, 4952 first account of what is now known as Wilson The pathology is not known but cervical disease (which he called pseudosclerosis) in facet (zygo-apophyseal) joint strain has been 1883, and at the same time as Erb he incriminated as the source of the pain, described muscle stretch reflexes in any without proof. The commoner symptoms detail. include neck, head and thoracic pain, dizziness, tinnitus, blurred vision, Westphal–Leyden syndrome See psychological distress, impaired acute cerebellar ataxia, described by Leyden concentration and memory, and intolerance in 1890,3824 13 years after the shorter of alcohol.5946 Such features are identical account of A.K.O. Westphal. with those of postconcussion syndrome. For unknown reasons, up to 20% of Westphal–Piltz phenomenon subjects fail to return to normal capacity (paradoxical pupil phenomenon) within a year. This is most likely if there is Contraction followed by dilation of the pupil reduced range of motion of the neck early after forceful eye closure, when the tension of on.702, 3320 There is no good evidence that the orbicularis muscle is increased,6738 the persistence of symptoms is associated named after A.K.O. Westphal. with a search for compensation, nor with psychogenic factors. Patients with Westphal–Stru¨mpell whiplash-associated headache are not pseudosclerosis See Wilson disease. significantly different from those with other Westphal described most of the neurological forms of posttraumatic headache or with features in 1883,6740 and Stru¨mpell did the whiplash-associated neck pain without headache, but they do have higher scores on same 15 years later (but still without somatization, obsessive-compulsive, remarking the hepatic cirrhosis, which observation was the particular contribution depression, and hostility subscales and global severity, implying that patients with of S.A.K. Wilson in 1912). whiplash-associated headache suffer wet beriberi Cardiac failure with edema psychological distress, perhaps as a result of chronic pain. The presence of an underlying as a result of thiamine deficiency. CNS disturbance may be suggested by the occurrence of circadian rhythm disorders in wheelchair palsy A form of compression neuropathy of the radial nerve some patients. Staging of whiplash-associated disorders at the level of the elbow. See also posterior was attempted by the Quebec Task force:9 interosseous syndrome.
whiplash amnesia Transient loss of memory following extension-flexion injury of the cervical spine. The mechanism is unknown.2093
WAD 1:Neck pain, stiffness, and tenderness WAD 2: Added signs of point tenderness and reduced range of neck motion WAD 3: The presence of neurologic signs with the above
whistling-face syndrome
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the parents or guardians that is at odds with the physical findings; evidence of epileptic seizures; retinal hemorrhages; CT or MRI One may speculate that the lack of such symptoms in people who participate in, for scan findings of intradural surface new or healing rib or limb example, ‘‘demolition derbys’’ or professional hemorrhages; and 173, 971 bone fractures. sports with extreme body contact may be explained by a state of anticipatory readiness Whipple disease (intestinal in such situations, such that a protective degree of muscle contraction is in place prior lipodystrophy) A multisystem infective to each ‘‘hit,’’ unlike the surprise impacts of enteropathy with Tropheryma whipplei, motor vehicle collisions among the general actinomycetes involving many organ systems, most commonly presenting in public. A biopsychosocial explanation synthesizing physical and societal perceptive elderly men as described by George Whipple in 1907. Typical clinical features include the causes has been proposed.2027 Acute and chronic headache attributed to insidious onset of seronegative migratory whiplash injury are new diagnostic entities arthropathy accompanied by malabsorption, intermittent, low-grade fever with night in the International Classification of Headache Disorders, 2nd edition. However, sweats and lymphadenopathy, weight loss, there is some evidence that acute headaches episodic watery diarrhea, or steatorrhea with after rear-end car collisions mainly represent colicky abdominal pain, and sometimes a chronic nonproductive cough or chest pain. episodes of a primary headache induced by 5649 Hyperpigmentation of the skin occurs in one the stress of the situation. third of cases. Freeman et al. (1999) have asserted that Features reflecting CNS involvement there is an epidemiologic or scientific basis 2190 occur in up to 40% of patients and comprise for the following statements, greatly progressive lethargy and hypersomnia, adapted here: cognitive, behavioral, and personality 1. Acute whiplash injuries lead to chronic changes, ocular and facial myoclonus, and pain. increased intracranial pressure. Less 2. Chronic pain resulting from whiplash commonly found are polydipsia, injuries is not usually psychogenic. hyperphagia, ataxia, diplopia, ocular palsies, 3. Whiplash injuries are likely to result in internuclear and supranuclear chronic pain in countries where there is ophthalmoplegias typically limiting vertical no compensation for injury. gaze, and oculomasticatory myorhythmia 4. Rear-impact collisions that do not result (pendular vergence oscillations of 0.5–1 Hz in vehicle damage are still able to cause combined with contraction of the jaw injury. muscles). Though rare, this is 5. Whiplash trauma is not biomechanically 193 comparable with common movements of pathognomonic when seen. Those with possible CNS Whipple disease daily living. should undergo small-bowel biopsy; this is 6. There is sufficient force generated at the temporomandibular joint (TMJ) during likely to show diastase-resistant, PAS-positive, intracellular inclusions within whiplash trauma to cause injury. macrophages in the lamina propria of the 7. TMJ injuries are associated with whiplash trauma. small bowel. In the CNS, the findings are 8. There is no direct correlation between the cerebral atrophy and diffuse or focal, small extent of vehicle damage and the chalky granulomas. The CSF shows probability of developing chronic pain pleocytosis and elevated protein levels. In the after whiplash trauma. CNS, the unculturable PAS-positive, 9. Chronic pain following acute whiplash rod-shaped inclusions within macrophages injury is not caused or worsened by (Tropheryma whippelii) are found in the treatment and diagnostic testing. temporal lobes; scattered cortical and 10. The risk of chronic neck pain among subcortical lymphocytic infiltrates2706,5928 acutely injured whiplash victims is not the same as the prevalence of chronic neck and MRI lesions are also described. The condition usually responds to protracted pain in the general population. antibiotic treatment.3924 A variant of the syndrome is the whiplash-shaken infant syndrome, a form of Whipple triad Confusion, faintness, nonaccidental injury to infants presenting seizures, or coma in the fasting state; with a suspiciously uncertain history from hypoglycemia; and recovery with WAD 4: The presence of fractures or dislocations.
administration of glucose,6743 named after A.O. Whipple. However, most postprandial symptoms are not due to hypoglycemia.
Whipple, Allen Oldfather (b. 1881) American surgeon who practiced in New York.
Whipple, George Hoyt (b. 1878) American physician who worked at Johns Hopkins University. whispering The utterance of language without vibration of the vocal cords. whispering dysphonia (whispering dystonia) 1. A dominantly inherited syndrome characterized by the onset in childhood or adult life of facial spasms, bulbar palsies, torticollis, and an inability to converse normally in anything above a whisper, although affected subjects can yell under adequate emotional stress. Other dystonic symptoms often eventually supervene.4903 See hereditary whispering dysphonia. 2. That form of dystonia in which the muscles of the larynx are involved, producing adduction of the vocal cords and whispered speech.
whispering dystonia See whispering dysphonia.
whispering stroke Strokes evident on brain imaging accompanied by only the mildest of symptoms or deficits. These clinically consistent symptoms fail to result in a diagnosis of stroke or transient ischemic attack either because the symptoms are insufficiently pronounced or persistent to raise concerns in the participant or they were not sufficiently defined to allow the diagnosis of stroke.
whistle-smile sign (Hanes sign) Failure of the patient to smile when asked by the examiner to whistle, suggested as a sign of Parkinson disease.2725 whistling-face syndrome (craniocarpotarsal dysplasia, Freeman– Sheldon syndrome) A dominantly inherited or sporadic congenital dysmorphism, characterized by microstomia, flat mid-face, high palate, talipes equinovarus, and ulnar deviation of the fingers. Strabismus, ptosis, and hypertelorism may also be present. It was described in 1938 by Freeman and
white breath-holding attacks Sheldon,2187 while the name used here was applied independently by Burian in 1963.
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Whytt reflex Loss of the pupillary reaction to light due to damage to the superior corpora quadrigemina.5704
white breath-holding attacks See reflex anoxic seizure.
states.5243 They have no known clinical significance. See mu rhythm.
Wide Range Achievement Test Whytt, Robert (1714–1766) Scottish
physician, who became professor of the white centered retinal institutes of medicine at Edinburgh at the hemorrhages (Roth spots) Small age of 33. He was elected a Fellow of the retinal hemorrhages seen in sepsis such as Royal Society and later president of the bacterial endocarditis, and in subarachnoid Royal College of Physicians of hemorrhage, leukemia, myeloma, diabetes, Edinburgh.208 and anemia. They were first described by Whytt demonstrated reflex activity in Litten in 1880; the retinal lesions described frogs and in 1751 was the first to describe the by Roth are now thought to have been cytoid pupillary light reflex and its anatomy.6764 bodies.6506 He also wrote a full description of the clinical features of increased intracranial pressure, probably in patients with white cerebellum sign A CT communicating hydrocephalus resulting appearance in children with acute cerebral from tuberculous meningitis, and described edema in which there is loss of the normal ‘‘dropsy of the brain’’ (cerebral edema), gray–white matter differentiation, obliteration of cortical sulci, and diffuse low transient monocular blindness, and diphtheria.6765 In 1764 he published the density but sparing of the cerebellum and first textbook of neurology since that of basal ganglia, which appear relatively Thomas Willis.5886, 891 hyperdense.
white muscles The light-colored striated muscles, best seen in animals or birds. Such muscles are composed mainly of type 2 myofibrils with fast-twitch capacity, and are seen particularly in the phasically contracting limb muscles of humans. Compare with red muscles. white rami B fibers of the sympathetic efferent system, bearing nicotinic cholinergic synapses at the ganglia. white-liver disease See Reye syndrome.
white-matter medullary infarcts Infarcts in the centrum semi-ovale or the external/extreme capsule Figure W–2 Robert Whytt due to emboli or small vessel disease. Clinically, hemiparesis of variable severity is the main feature. wicket rhythm An EEG finding, consisting of a fragment of medium voltage Whole Brain Atlas An Internet site mu-like rhythm at 6–11 Hz, occurring providing anatomical images of the CNS at singly or in trains during wakefulness or sleep and recorded in temporal lobe regions. www.med.harvard.edu/AANUB. The phenomenon has no clinical significance.3469 whonamedit.com A biographical dictionary of medical eponyms, also useful for finding bibliographical data. wicket spikes Benign EEG phenomena comprising a brief run of m-like rhythm, occurring asymmetrically in the temporal Whytt disease Acute hydrocephalus regions of adults in alert or drowsy resulting from tuberculous meningitis.
A brief test of reading, spelling, and arithmetic, used as an objective assessment of academic progress.3173
Widowitz sign See Cantelli sign. Wieacker syndrome (contractures, muscle atrophy, and ocular lesions syndrome) A congenital, X-linked recessive dysmorphic syndrome characterized also by abnormal pupils, strabismus, ptosis, dysarthria, clubfoot, muscle contractures, neural or myopathic weakness, scoliosis, and mental and developmental delay.6768 See Cogan syndrome (definition 1).
Wildervanck syndrome (Franceschetti–Klein–Wildervanck syndrome, cervico-osteofacial syndrome, cervico-oculo-acoustic syndrome; OMIM 314600) A polygenic, autosomal dominant or X-linked disorder seen almost exclusively in females and characterized by congenital deaf-mutism, Klippel-Feil syndrome, Duane retraction syndrome, facial dysmorphism, and abnormal tethering of the hair.1627 Dysraphism, skeletal deformities, deafness, torticollis, spina bifida occulta, and psychomotor delay may also be associated.6782
Wilhelmsen–Lynch disease A dominantly inherited neurologic multisystem disease characterized by dementia, Parkinsonism, amyotrophy, and behavioral disinhibition.3976
Wilks, Sir Samuel (1824–1911) English physician to Guy’s Hospital. He was a general physician who, like his colleague Richard Bright, was unusually interested in neurological problems. He published accounts of alcoholic paraplegia,6787 of bulbar palsy, and of myasthenia gravis,6788 as well as a major summation of neurological knowledge in his collected Lectures on Diseases of the Nervous System (London, 1878). Williams Syndrome Association A charitable organization in this field. Address: P.O. Box 297, Clawson, MI 48017-0297. Tel: 248-541-3630.
Wilson disease
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E-mail:
[email protected]. Web site: http://www.williams-syndrome.org/.
Williams–Beuren syndrome (elfin face syndrome, infantile hypercalcemia) A dominantly inherited contiguous gene syndrome (7q11.23, with the deletion of the genes elastin, RFC2, LIM-kinase, GTF3 muscle transcription factor [MusTRD1], and GTF2I). The syndrome manifests short stature, idiopathic hypercalcemia, congenital heart disease such as supravalvular aortic stenosis or coarctation, pulmonary stenosis, and peripheral arterial stenoses; and craniosynostosis with microcephaly, blue irides with a stellate pattern, strabismus, and a constellation of facial dysmorphisms such as medial eyebrow flare, malar flattening, elongated philtrum, full lips, upturned nasal tip, and low nasal bridge resulting in the ‘‘pixie face.’’ Dental anomalies, skeletal contractures and synostoses, and retardation of mental and somatic growth with relative preservation of affective skills are other characteristics.6798, 4562 Neurological features include disproportionate skills in and attraction to music and language (despite hyperacusis with high-frequency hearing loss and phonophobia), squint, muscle hypertonia, and hyperreflexia. It has been suggested that the folklore surrounding pixies, elves, and leprechauns and their musical talents may be based upon the features of this syndrome.3776
Willis headache A vascular headache following a stroke, possibly as a result of increased blood flow through the branches of the external carotid artery when the internal is occluded, or in the vessels at the base of the brain (which do have pain fiber innervation) in the presence of occlusion of one of the arteries contributing to the circle of Willis. It may also occur on the side opposite to that of the internal carotid artery occlusion, suggesting increased flow, presumably as a result of increased demand.
Willis, Thomas (1621–1675) English physician who took up arms in defense of King Charles I before entering upon the study of medicine. He later practiced in Oxford, at which university he obtained the Sedlian Chair of Natural Philosophy in 1660 as a result of family connections and patronage, then even more than now a common method. On moving to London in 1666, he obtained an appointment as
physician to the family of the Duke of York (later King James II), in which eminent position he did not long remain on account of the forthrightness of his clinical diagnoses. He was a founder of the Royal Society. Like Sylvius, he ascribed behavioral functions to the cortex rather than to the ventricles of the brain. His name is given to the arterial anastomotic circle at the base of the brain (circle of Willis), which he described in precise detail and with the first commentary on its physiological significance, along with a re-classification of the cranial nerves into nine pairs and a description of the sympathetic chain, in his ‘‘Cerebri Anatome’’ (1664), for which Sir Christopher Wren drew many of the plates, and which, with great political acumen, he dedicated to the Archbishop of Canterbury. Willis described the XI cranial nerve, which was known by his name for some years thereafter, and the ciliary ganglion, thalamus, lentiform body, corpus striatum, and intercostal nerves. He also described meningococcal meningitis, hysteria, general paresis, narcolepsy, and a body of physiological observations in his De Anima Brutorum (Two Discourses of the Soul of Brutes which is the Vital and Sensitive (soul) of Man; London, 1672).6804 Other observations concerned the intercostal and spinal nerves (1684) and the differentiation of diabetes insipidus and diabetes mellitus in 1674. He distinguished cerebral and meningeal inflammation and gave a good clinical description of myasthenia gravis in his book De anima brutorum (London, 1672) and The London Practice of Physick (London, 1685). In the words of Sherrington, ‘‘Thomas Willis practically refounded the anatomy and physiology of the brain and nerves . . . . He collated bedside observation with anatomical fact. He, as had Fernel, a century before him, shifted the seat of the anima from the chambers of the brain to the actual substance of the brain itself . . . . Willis put the brain and the nervous system on their modern footing so far as that could be then done.’’6975 Willis described the epidemiology of (probably) meningococcal meningitis; carotid occlusion with headache (Willis headache); transient ischemic attacks (‘‘the irradiation of the spirits is wont . . . to be interrupted with little clouds, as it were, scattered here and there’’); migraine; vertebral occlusion; Epilepsy (due to ‘‘an explosion of the animal spirits in the brain’’); focal seizures; Parkinsonism; palilalia;
torsion dystonia; referred pain; internuclear ophthalmoplegia; posttraumatic dementia; and traumatic quadriplegia.2891, 3103, 6806 Again like Sylvius, he denied that either the rete mirabile or the ventricles were the site of production of ‘‘animal spirits,’’ although he did consider that these were secreted by the cortex. The word neurology was his invention; he derived this from the Greek name for a tendon, sinew, or bowstring and defined it as ‘‘the doctrine of the nerves.’’3038 Willis discounted the existence of Galen’s channels from intracranial to extracranial regions and introduced the concept of CSF absorption into the veins as well as through the infundibulum; he suggested active CSF secretion by the choroid, but still accepted drainage through the nose until this was refuted by Richard Lower.6174, 3037 A fine, recent, critical biography is Soul Made Flesh: The English Civil War and the Mapping of the Mind (Zimmer C, 2004. London: Heinemann)
Figure W–3 Thomas Willis
Willvonseder syndrome (dementia, vertical gaze palsy, copper dysmetabolism syndrome) A dysmorphic syndrome of abnormal copper metabolism presenting in childhood with speech defect, vertical gaze palsy, splenomegaly, platelet abnormalities, dementia, sleep disorders, and cerebellar ataxia.6809
Wilson disease (Westphal–Stru¨mpell syndrome, Hall disease, cerebral pseudosclerosis, hepatolenticular degeneration, progressive lenticular
Wilson sign degeneration, Gowers tetanoid chorea) A recessively inherited syndrome linked to markers on chromosome 13 (13q14.21, atpase, Cuþþ transporting polypeptide; atp7b), originally described in 1861 by Friedrich Frerichs (1819–1885), by Westphal (also in Germany) in 1883, and by von Stru¨mpell in 1898, but only widely recognized after the independent report by Wilson in 1912, in which, however, the characteristic corneal changes were not described.6818 The essential features are due to the deposition of copper in the basal ganglia, corneas, liver, and kidneys, and comprise Kayser–Fleischer rings, evidence of hepatic cirrhosis and its complications, and progressive incoordination of fine movements, such as those required for handwriting and speech. Sunflower cataracts may also be seen. Dystonias, chorea, or athetosis, pyramidal and cerebellar signs, Parkinsonian features, dysarthria, mental deterioration, psychiatric syndromes, seizures, and flapping tremor of the arms and hands are the other major features. Low serum ceruloplasmin and bound serum copper levels, and high tissue and urine copper levels are diagnostic,2827,1305 the urine copper levels rising after a dose of penicillamine. On T2-weighted MRI scans, a bilateral hyperintense stripe is classically seen in each putamen. The disease has been subdivided into two types: In pseudosclerosis, dysarthria and the flapping wing-beating tremor are accompanied by cirrhosis, which is asymptomatic and progresses slowly. In the juvenile type, onset is also during childhood or adolescence, but hepatic involvement is obvious and the first neurological sign is usually dystonia, while the flapping tremor is rare.1589 Because the disease is eminently treatable if detected early (using agents to chelate and excrete copper), the index of suspicion should be high in young people manifesting any involuntary movement disorder whatsoever. An information sheet ‘‘Wilson’s Disease’’ has been compiled by the National Institute of Neurological Disorders and Stroke. Vanderbilt Medical Center has also produced information on this and other conditions: http:// www.vanderbiltchildrens.com/ interior.php?mid=38&typeID=7. Variant forms are reported: In an X-linked variety, the clinical findings (dementia, dysarthria, gait disturbance,
1070 tremor, vertical gaze paresis, hypersomnia, support, outreach, and information for splenomegaly) are similar, but people interested in Wilson’s disease. Kayser–Fleischer rings are absent, ceruloplasmin levels are normal, and the Wilson–Vogt syndrome See Vogt metabolic disorder is copper depletion due syndrome. 6809, 2421 to abnormal membrane transport.
Involuntary movements such as dystonia, myoclonus, athetosis, dysarthria, and rapid orobuccal movements occur in the presence of slightly low urinary and serum copper levels.6184 See also acquired (non-Wilsonian) hepatocerebral degeneration, Menkes syndrome, hepatic encephalopathy.
windmill nystagmus (alternating windmill nystagmus) A form of periodic alternating nystagmus seen in some patients with severe or total visual loss, and characterized by vertical and horizontal oscillations that are out of phase in the two eyes.5533
Wilson sign See pronator sign.
responses with ongoing stimulation by Al and C afferent fibers, plateauing after about 20 stimuli. It is considered to be a factor in the prolongation of pain responses.2411
Wilson, Samuel Alexander Kinnier (1874–1937) Irish-American neurologist, born in the United States, who trained at Edinburgh and in Europe with Pierre Marie and others before going to the National Hospital in 1904. He practiced there for the rest of his life, the first ‘‘pure’’ neurologist in the United Kingdom, holding successively more senior appointments despite unfriendly relationships with most of his contemporaries. He was also variously on the staff of the Westminster and King’s College hospitals and was editor of the British Journal of Neurology before founding the Journal of Neurology (Neurosurgery) and Psychiatry, the first issue of which appeared just after his death. His fame was early achieved by his description in 1912 of the disease bearing his name, but rests also upon his superbly lucid textbook Neurology (edited by A.N. Bruce), published in 1940, which is filled with historical fact and a distillate of his clinical wisdom; and upon his other studies on the basal ganglia, the extrapyramidal system (so named by him), apraxia,6817 and aphasia.
wind-up Increased dorsal horn neuronal
wing-beating tremor A proximal, wide-amplitude, regular tremor of the upper limbs due to lesions of the dentatorubral pathway; it is best elicited with the shoulders abducted and the elbows flexed, at which the elbows move up and down. Winiwater–Buerger disease (Buerger disease) Thromboangiitis obliterans of the cerebral as well as of the peripheral vessels. It is an entity of doubtful validity; most cases are actually either due to atherosclerosis or due to other identified forms of angiitis.
wink reflex See orbicularis oculi reflex. winking jaw See Wartenberg winkingjaw phenomenon.
Winkleman disease (Winkleman–Dercum disease) See progressive pallidal atrophy, NBIA.
Wilson’s Disease An information Winkleman sign Described as a mild, permanent hyperextension of the great toe on the side affected by pyramidal tract disease, but more commonly evidence of Wilson’s Disease Association A charitable organization providing support disease of the basal ganglia. and information on this condition. The Winkleman–Dercum disease See Wilson’s Disease Association Web site Winkleman disease. http://www.wilsonsdisease.org/ provides data on the copper content of various foods and much more. Winter–Baraitser sheet compiled by the National Institute of Neurological Disorders and Stroke.
Dysmorphology Database Wilson’s Disease Support Group UK An organization providing
(London Dysmorphology Database) A comprehensive, computerized,
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menu-driven database assisting in the recognition of over 4000 defined neurogenetic syndromes by means of a listing of selected features; allowing a search for a differential diagnosis of specific clinical features; reviewing the clinical manifestations of named disorders; and providing references to recent or seminal papers. The database was conceived and compiled by Dr. Michael Baraitser and Dr. Robin Winter, and is published by Oxford University Press, Walton St., Oxford, UK OX2 6DP. A dysmorphology photographic library of over 7500 images is also available. See also London Neurogenetics Database. The database includes dysmorphic, multiple congenital anomaly and mental retardation syndromes, single gene disorders, sporadic conditions, and those caused by environmental agents.
wire electrodes Thin wires that are insulated except for the tips, which are bare, and which are inserted into a muscle through a needle for kinesiologic EMG studies, in which they are superior to surface electrodes because they are less affected by cross talk from adjacent muscles.
drawing.6687 Below this age, the Revised Wechsler Preschool and Primary Scale of Intelligence (WPPSI-R), which has a parallel structure, can be employed.6689
Wishart syndrome Multiple meningiomas or neurilemmomas of the VIII cranial nerves or of the spinal roots, or a glioma associated with neurofibromatosis. See neurofibromatosis. Wishart, John (1782–1834) Scottish surgeon who graduated in medicine at Edinburgh, where he returned to practice after study in Europe, working with Argyll Robertson. He was at some time president of the Royal College of Surgeons at Edinburgh. His contributions were mainly in the areas of ophthalmia neonatorum, ophthalmic surgery, and methods of pupillary dilation.
withdrawal emergent dyskinesias A transient syndrome seen
Wohwill–Andrade syndrome See Andrade neuropathy.
Wolff, Harold G. (1898–1963) American neurologist, born in New York and educated at Harvard, who worked mainly at Bellvue and became Anne Parrish Titzel Professor of Neurology at Cornell and director of the neurological service at the New York Hospital. His best-remembered studies were those dealing with aspects of headache, psychosomatic diseases, and pain, and for his studies with Stewart Wolf on Alexis St. Martin, whose stomach wall had been eventrated since a childhood accident; the secretions of the stomach and its vascularity were observed during the daily activities of St. Martin and the influences on them were reported in a series of classic studies. Wolff was editor of the Archives of Neurology from its inception to his death and an important figure in American neurological research and administration.
usually in children, characterized by the Wolfflin nodules Small regular and occurrence of chorea and ataxia with uniform spots found in the periphery of the autonomic hyperreactivity when neuroleptic iris in 10–25% of normal subjects, and, apart agents are suddenly withdrawn.2282 from their similarity with Brushfield spots, of no clinical significance.6801 Wisconsin Card Sorting Test withdrawal headaches Those forms A test of ability to respond selectively to of headache consequent upon different aspects of a situation. In this case, discontinuation of such substances as Wolf–Hirschorn syndrome the color, form, and number of designs (4p.16.3 deletion; midline fusion defect caffeine, opiods, and estrogens. printed on cards shown to the subject have to syndrome) A chromosomal dysmorphic be matched by the subject, using response syndrome characterized by low birth weight, cards, on which are printed the same symbols withdrawal reflex A painful stimulus failure to thrive, asymmetrical in various colors and numbers. Subjects are to the sole of the foot will cause withdrawal microcephaly, micrognathia, abnormal ear of the stimulated limb and sometimes also of told when they make a correct match and structure, hypertelorism, and midline fusion the unstimulated limb.6898 when they are wrong, and are expected to defects such as cleft palate and defects in the learn from these clues which cards to use to scalp.6781 Myoclonic and other seizures, make the match in future; but the rules are Wittmarck–Ekbom syndrome strabismus, hypotonia, and insensitivity to changed after 10 successful matches, so that, See restless legs (limbs) syndrome. pain are also reported. successively, form, then color, and then number are the criteria for matching witzelsucht A German term for a state Wolfing reflex (atz, mastication reflex: successfully.2552 of unwonted and unwarranted cheerfulness, OMIM 194190) Sucking, chewing, and The test is sensitive in detecting lesions of characterized by mild euphoria, jocularity, swallowing movements, representing an 2551 the dorsolateral regions of the frontal lobes. and an abnormal tendency to make rhyming exaggerated sucking reflex; seen in subjects or punning word associations. Frontal lobe with severe diffuse cortical disease or with WISC-R Acronym for the Wechsler disease (cortical atrophy, tumor) is usually bilateral corticobulbar lesions. Intelligence Scale for Children-Revised, a responsible. compound instrument for the assessment of intelligence with 12 verbal or performance Wolfram syndrome (DIDMOAD) subtests adapted from the WAIS for use in wobbler mouse A murine mutation, A rare, recessively inherited syndrome with some features resembling those of children over the age of 7 years. Verbal presenting in youth with widespread amyotrophic lateral sclerosis. subtests examine information, similarities, cerebral atrophy, characterized by the arithmetic, vocabulary, comprehension, and presence of four cardinal signs: Diabetes digit span; performance tests are of picture Wohlfarht–Kugelberg– Insipidus, Diabetes Mellitus, Optic arrangement and completion, block design, Welander disease See hereditary Atrophy, and nerve Deafness. Numerous object assembly, coding, and maze other neurological, endocrine, and urinary motor neuropathy, type 3.
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tract abnormalities are also found, but variably.6852, 5184
reported in the Western hemisphere since. (Osler, quoted by Durham.1765)
Wolman disease A lysosomal storage disease (an inborn error of metabolism) due to absence of acid lipase, presenting in infancy and characterized by hepatosplenomegaly, steatorrhea, anemia, and adrenal calcifications. There is a heavy deposition of cholesterol esters and triglycerides in many tissues.6853, 6720
woodtrimmer’s disease
Woltman sign Slowness of both the contraction and the relaxation of muscles in hypothyroid patients, best seen as the ‘‘hung-up’’ ankle jerk and occurring due both to mechanical factors and to slowness of contraction time, as in myotonia and pseudomyotonia. Dr. H.W. Woltman (1889–1964) was an American physician. Woods–Black–Norbury Syndrome An X-linked dominantly inherited immunoneurologic disorder (Xq26) presenting as neonatal hypotonia which is lethal in males. Females develop spastic paraparesis and have impaired night vision.4992
Woodcock–Johnson Scales of Independent Behavior A set of
A syndrome of transient tremor resulting from overexposure to the mycotoxins contained in sawdust. See tremorgenic encephalopathy.
concentration (and indirectly of intelligence), wherein subjects generate as many words within a category as they can think of (e.g., words beginning with ‘‘D’’, items to be found in a supermarket, or names of animals or of plants) within a defined period of time, usually 1 min.5998
word list recall A standard, sensitive Woon syndrome A congenital dysmorphic syndrome characterized also by spinal, skeletal and gastro-intestinal malformations, brachycephaly and craniosynostosis. See craniosynostosis.
word blindness 1. (developmental dyslexia) The term suggested by Rudolph Berlin (1833–1897), a German ophthalmologist, for the difficulties experienced by children in mastering the comprehension and production of written words. The degree of dyslexia is variable; it has been estimated that 10% of all children have some degree of congenital language difficulty. Errors in reading, spelling and writing occur in the presence of normal recognition of letters and understanding of the meaning of pictures, objects and diagrams. The condition is somewhat susceptible to steady and prolonged educational effort. See alexia. 2. aphasia, (here, an inability to understand the language value of written symbols), as suggested by Adolf Kussmaul (1822–1902), a German physician, in 1877.
scales used in assessing children’s abilities, based on data acquired by interviewing the parents and by assessing motor and communication skills, social interaction, and word deafness (developmental personal and community independence.3 receptive aphasia, verbal auditory agnosia, auditory imperception, central deafness) The Woodhouse Sakati syndrome inability to understand the accepted content A rare autosomal recessive neuroendocrine and symbolic meaning of words heard; disorder characterized by the combination of difficulty in the comprehension and alopecia, hypogonadism, diabetes mellitus, discrimination of spoken language, while mental retardation, sensory neural deafness, spontaneous speech, reading, writing and and extrapyramidal features. Movement comprehension of nonlanguage sounds are disorders mainly consist of dystonia and relatively intact. chorea of the limbs with onset in Repetition is also affected, but reading, adolescence. The facial muscles are usually writing and spontaneous speech are not. Pure spared but dysarthria is common. Pyramidal word deafness is described, but appears to be a features and peripheral abnormalities are vanishing rarity. The condition was first inconsistent features. Most of the reported described by Bastian in 1869 and attributed families are from the Middle Eastern to disturbance of the auditory perceptive countries although rare europoid cases have center in the first temporal convolution; been described.5628, 381 Lichtheim applied the name in 1885. The condition is somewhat susceptible to steady and prolonged educational effort.929 Woods-Pendleton syndrome A familial condition manifesting dystonia, dysequilibrium and speech disturbance Word List Generation Test A test observed during a famine in China but not of word fluency, perseverance and
method of testing recent memory (new learning), as in the assessment of mild-to-moderate age-related cognitive dysfunction. Usually up to ten three-letter words (which may be nonsense words) are presented, and the number recalled after a delay, with or without distraction during this time, represents the subject’s score.
word production anomia Difficulty in word-finding, which, however, is assisted by phonetic or semantic cues, and is seen in aphasics with dominant frontal lobe lesions.523 See also anomia.
word rests See stereotypy. word-form dyslexia An acquired form of dyslexia characterized by letter-by-letter reading, whole word reading being impossible. Reading is thus exceptionally slow. It is considered to be due to a lesion of the system whereby a visual word-form is obtained.5755
word-selection anomia See anomia.
work shift change The occurrence of excessive sleepiness and impaired work performance during a subject’s conventional sleep-wake schedule, when daytime activities are re-scheduled to that period, as occasioned by shift work, and of insomnia with shortened and fragmented sleep during the new sleep period. (See also ASDA Diagnostic Classification,1629 sleep disorders.) working memory The process whereby information is temporarily stored and manipulated. This requires a number of inter-related systems including a central executive system controlling an articulatory loop (which is concerned with the storage of speech) and a third system that maintains and manipulates visuospatial material.1667 Forgetting why one went into a room, or a telephone number just heard but not yet written down, are examples of temporary
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impairment of this faculty. The length of storage is usually seconds unless there is conscious rehearsal of the data. The structural capacity of working memory refers to the number of distinct informational units that can be remembered at one time; while the operational capacity is the number of processing operations that can be performed while still preserving the products of earlier operations.5516 See also short-term memory.
World Federation of Interventional and Therapeutic Neuroradiology A specialist professional organization. Website: www.wfitn.org.
World Federation of Neurologic Societies Grading System A system for grading subarachnoid hemorrhage. A scale with less inter-observer variability than others.6242 Major Focal Glasgow Coma Score
Motor Deficit
15 13–14 13–14 7–12 3–6
absent absent present present or absent present or absent
congenital suprabulbar paresis. 2. (familial spastic paraparesis and dementia) A dominantly inherited spastic syndrome with onset in mature adult life, World Health Organization Handicap Scale Six scales, based on six characterized by slowly progressive ‘‘survival roles’’, each intended to classify the dysarthria, spastic paraparesis and dementia with widespread ischemic circumstances in which individuals find themselves as a result of disease. Each scale damage to the deep white matter and 6873 See also familial has 9 levels, 0 reflecting the best and 8 the corpus callosum. worst functional state. Detailed descriptions multiinfarct dementia, multiinfarct are given in an accompanying manual. The dementia. concept of Handicap refers to discordance between the individual’s performance or status and the expectations of the individual Worster-Drought-Allen himself or of the particular group of which syndrome (congenital auditory imperception, idiotic aphasia, atavistic he is a member. The scales deal with speech, congenital pure word deafness) orientation, physical independence, mobility, A congenital syndrome in which the child occupation, social integration, and economic who has normal hearing is unable to self-sufficiency, using semantic 6870 comprehend spoken language but can lip gradations. read and can repeat sounds and words that he hears, but not a long series of them. World Muscle Society An Speech is absent or very defective and the international, multidisciplinary, scientific comprehension of written language at society, dedicated to the advancement and least slightly impaired. Inability to dissemination of knowledge in the field of appreciate musical sounds may also be neuromuscular disorders. Web site: found.6872 http://www.ior.it/wms/. Hospital, Radboud, P.O. Box 9101, NL-6500 HB Nijmegen, The Netherlands.
Grade
1 2 3 4 5
World of Multiple Sclerosis http://www.ifmss.org.uk/ A website maintained by the International Federation of MS Societies, providing information and advice particularly to people with multiple sclerosis.
World Federation of Neurology Worldwide Education & Awareness for Movement http://www.wfneurology.org/wfn/ An Disorders (WE MOVE) international organization for the advancement of research and education in neurology.
A charitable organization in this field. Web site: http://www.wemove.org/.
Parkinsonism and Related Disorders An international research
Worm, Ole (1588–1654) Danish
WPPSI-R Acronym for the Wechsler Preschool and Primary Scale of Intelligence (Revised), an instrument adapted from the WISC-R for use in children between 3 and 7 years of age. Subtests include information, arithmetic, vocabulary, similarities, geometric design, design recognition, animal pegs and sentences.6689 Wren, Sir Christopher
(1632–1723) English scientist, anatomist, artist and architect. He was the illustrator for Willis’ book Cerebri Anatome. Worm disease Bulbar tetanus. See also World Federation of Neurology cephalic tetanus. Research Committee on
Wright manoeuvre Hyperabduction
and elevation of the arms as a test for the vascular form of the thoracic outlet committee established by the World syndrome. Obliteration of the radial pulse is Federation of Neurology to promote and Wormian bones Small areas of bone monitor research developments, and to foster lying in the cranial sutures like islands in a the end point sought but as this may also occur in normal subjects, the two sides have communication among neuroscientists in river, described by Ole Worm and named for to be compared. See also Adson Test. this field. It sponsors occasional symposia him by Thomas Bartholin, his nephew, in on Parkinson disease. Web site: 1656.5619 http://www.elsevier.com/inca/publications/ wrinkly skin syndrome A recessively store/3/0/5/4/1/. inherited congenital disorder of connective Worster-Drought syndrome tissue, characterized by short stature, skeletal 1. (congenital suprabulbar palsy) A World Federation of malformations, premature aging, wrinkled dominantly inherited congenital skin, optic atrophy, pigmentary retinopathy, Neurosurgical Societies An syndrome of weakness of the face, soft palate and tongue, sometimes complicated myopia, microcephaly, and mental and organization including all national neurosurgical societies, based at: Academic by seizures and mental retardation. 379 See developmental delay.2322 anatomist.
Wrisberg, Heinrich
Wrisberg, Heinrich (1739–1808) Professor of anatomy at Go¨ttingen, where he was Soemerring’s assistant. The nerve of Wrisberg is the nervus intermedius, the sensory component of the VII nerve. Wrisberg also the first to identify the medial cutaneous nerve of the arm and he gave a good account of the phrenic, vagus and trigeminal nerves.
wrist drop A persistent posture of flexion of the wrist due to loss of power in the radial-innervated long extensor muscles of the forearm. The lesion is high, in the upper arm or in the brachial plexus, as the branch of the nerve to the extensor carpi radialis longus comes off above the elbow.
wrist extension reflex Contraction
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further performance of writing tasks because of clumsiness, cramp, aching, tremor, ‘‘freezing’’ or involuntary movement of the hand.5174, 3271 It was first described in detail by Bell in 1830, and although in fact a focal dystonia, it was long considered to be psychogenic in origin. It differs only in form and site from other occupational cramps, which have been listed as affecting people in at least 55 different activities. In the simple form of writer’s cramp, only writing is affected. In the dystonic form, the disorder spills over into other activities. Psychiatric morbidity is not increased among such patients.5775 A (complex) rating scale to assess the benefit of local botulinus toxin injection into the forarm muscle has been published.6837 A variant is a familial form with onset in adult life.381 See also myoclonic writers’ cramp.
of the extensor muscles of the wrist when they are tapped, with the arm supported and the wrist hanging flexed; this represents a normal phenomenon when just visible and a writing tremor A variant of essential sign of pyramidal tract disease when tremor characterized by the adult onset of increased in amplitude. tremor at 5–6 Hz while writing, and wrist flexion reflex Contraction of the occasionally complicated by other dystonias or by myoclonic seizures. See primary long flexor muscles of the wrist when they writing tremor. are tapped at the volar aspect of the wrist, with the arm supported in supination; this represents a normal phenomenon when just wrong-way deviation 1. Deviation of visible and a sign of pyramidal tract disease the eyes away from the side of the lesion and when increased in amplitude. toward the paretic side in patients with medial thalamic hemorrhage who have blood wrist sign See Chaddock reflex. in the third ventricle.2086 (The usual, though not invariable, finding with supratentorial lesions is that the eyes deviate toward the writers’ cramp (scrivener’s palsy, la side of the cerebral lesion and away from the crampe des e´crivains, graphospasm, paretic limbs). 2. Acute hemiparesis should mogographia) A focal (occupational) be accompanied by deviation of the task-specific dystonia usually manifest in protruded tongue to the paretic side; adults who earn their living by writing, a minority of patients with hysterical typing or otherwise communicating hemiparesis protrude their tongue toward language mechanically, preventing the
the normal side. Such wrong-way deviation, however, also occurs in Jackson syndrome in which a low medullary lesion damages the XII cranial nerve nucleus and the pyramidal tract which has not yet crossed.3358
wry head See plagiocephaly. wry neck See torticollis. Wyatt syndrome See Sturge-Weber syndrome.
Wyatt-Brushfield disease See Sturge-Weber syndrome.
Wyburn-Mason syndrome (Bonnet-De´chaume-Blanc syndrome, retino-cephalic angiomatosis, cerebroretinal arteriovenous aneurysms, multiple cerebraretinal arteriovenous malformations) Tortuosity of the retinal vessels unilaterally, with cirsoid aneurysms or huge overgrowths of the vessels; arteriovenous angiomas of the optic nerve, thalamus and mesencephalon; and often trigeminal vascular nevi. Clinically, the main presenting features are headache, facial palsy and hydrocephalus with oculomotor paresis, visual field deficits and hemangiomas of the optic disk, due to brainstem and subarachnoid hemorrhages.739, 6886 See Bonnet syndrome.
Wynter, Walter Essex (1860–1945) A physician at the Middlesex Hospital, London, and sometime editor of the British Medical Journal. While on the junior staff of the Middlesex Hospital he made the first attempt at lumbar puncture, (reported by him in the Lancet on May 2, 1891). Each of his four patients had meningitis, and each one died.
x xanthinuric myopathy A syndrome due to xanthine oxidase deficiency, characterized by proximal weakness, wasting, and muscle discomfort, with electrical and biopsy evidence of myopathy. Electron microscopy study reveals intracellular aggregates of crystalline material within muscle fibers.1083
xanthomatosis 1. See cerebrotendinous xanthomatosis. 2. See Hand–Schu¨ller–Christian disease (generalized xanthomatosis).
xeroderma pigmentosum
(Gr, dry þ skin pigment) (xerodermic idiocy) A rare, recessively inherited heterogeneous neurocutaneous syndrome due to failure of DNA repair and manifested xanthomatous neuropathy A rare by extreme cutaneous sensitivity to ultraviolet light, with telangiectasias, complication of biliary cirrhosis in which pigment changes, keratoses, and skin cholesterol esters are deposited within the malignancies of all types. 3952 peripheral nerves. The condition was first described by xanthochromia (from Gr, yellow Hebra and Kaposi in 1872. de Sanctis and þ color) (of CSF) A yellow discoloration of xanthopsia A condition in which all Cacchione noted its association with mental the CSF, usually due to the presence of visual perceptions have a yellow tinge, as retardation, microcephaly, hypogonadism, protein which has had time to absorb 1610 See de bilirubin from blood spilled into this foreign occurs in chronic digitalis, sulfonamide, and and dwarfism 60 years later. other drug poisoning, as well as in jaundice Sanctis–Cacchione syndrome. compartment. The protein level is commonly Since then, seizures, cerebellar ataxia, more than 300 mg/dl. When the protein level and in eclampsia. choreoathetosis, dysarthria, deafness, is very high but the cell count is low (albumino-cytological dissociation), spinal xanthurenic aciduria An hereditary spasticity, peripheral neuropathy, glycogen storage myopathy, dementia, areflexia, block, acute inflammatory demyelinating disorder due to deficiency of the enzyme abnormal EEG, and neuropathic EMG and polyneuropathy, and eighth nerve kyureninase, manifesting mental added as Schwannomas are the commonest causes. retardation, which is responsive to treatment muscle biopsy findings have been 4388, 6308 components of the syndrome. with pyridoxine. xanthoma 1. (fibroxanthoma, xeroderma with talipes fibrohistiocytoma) A benign tumor of X-disease See Murray valley equinovarus and enamel histiocytes containing uni- or encephalitis. defects A congenital dysmorphic multinucleated cells and giant cells and syndrome, a variant of xeroderma usually attached to the dura mater. 2. (xanthosarcoma, malignant fibrous xenografts Grafts taken from one species pigmentosum, manifesting also skeletal histiocytoma) A rare malignant form of and placed in another. Man-to-mouse is the malformations, abnormalities of the hair, teeth, nails, and skin and psychomotor retardation.381 fibroxanthoma. most common example.
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reported in association.5988 See also X-linked and mapped to Xq22.3. See also heterotopias, bilateral periventricular periodic ataxia, cerebellar ataxias. pigmentosum. nodular heterotopia.1673 A variant is X-linked lissencephaly with xerophthalmia An ocular disorder due X-linked congenital muscle abnormal genitalia, a rare syndrome of to deficiency of vitamin A, and characterized fiber hypotrophy with central postnatal growth retardation, microcephaly, by keratomalacia, night blindness, and Bitot nuclei276 See centronuclear myopathies. hypotonia, impaired hypothalamic function, spots. seizures, micropenis, and cryptorchidism in X-linked congenital neural the presence of lissencephaly and agenesis of xerostomia Dryness of the mouth. deafness An X-linked disease manifesting congenital severe neural hearing the corpus callosum, associated with mutations in the ARX gene. XK-aproscencephaly A congenital loss but normal vestibular function.1600 dysmorphic syndrome characterized by X-linked mental retardation cyclopia, cardiac and genital X-linked dominant myopathy maldevelopment, microcephaly, and A proximal myopathic syndrome seen only A nonspecific condition of intellectual aproscencephaly or arhinencephaly.381 in females, because it is lethal in hemizygous impairment associated with congenital microcephaly and due to amputations in the boys.2870 protein kinase gene.635 Syndromic and X-linked adrenoleukodystrophy nonsyndromic varieties are differentiated on X-linked early-onset neural See adrenoleukodystrophy. the presence or absence of dysmorphic and deafness An X-linked recessive somatic features. The entire group of over syndrome of severe neural hearing loss with X-linked bulbospinal 4427 200 entities comprises various early onset. neuronopathy (Kennedy syndrome, developmental disabilities; fragile X familial progressive bulbospinal muscular syndrome is the single most common form. atrophy, bulbospinal neuronopathy) A rare, X-linked external Oligophrenin mutations have been described ophthalmoplegia and myopia slowly progressive hereditary motor in over 10% of the remaining cases.6951 See A rare syndrome in males characterized by neuropathy with onset in young adult life, http://www.ggc.org/xlmr.htm. bilateral ptosis, weakness of the external characterized by androgen insensitivity One variant is mapped to Xq24 and is a ocular muscles, high myopia, ectopic pupils, (gynecomastia, oligozoospermia, raised syndrome with early onset characterized by 5512 hyporeflexia, and scoliosis. See also serum gonadotrophins), pelvic girdle and low birth weight, delayed milestones, short familial static ophthalmoplegia. proximal limb weakness with postural stature, hyperextensible joints, kyphosis, tremor, prominent lingual and perioral obesity, small testes, fine finger tremor, fasciculations, hyporeflexia, and muscle X-linked humeroperoneal distal leg weakness and wasting, impaired cramps. Masseteric and facial weakness, muscular disease An inclusive term motor coordination, and mental retardation dysphagia, and dysarthria appear later. describing mild and slowly progressive with behavioral disturbances.3306 Another is EMG, sensory conduction, and biopsy muscular disorders so inherited, with onset X-linked mental retardation with short stature, studies show typical changes resulting from in the first decade. The clinical features small testes, muscle wasting, and tremor. See degeneration of the anterior horn cells and include mainly distal neurogenic and cerebellar syndromes (congenital ataxias). 3385, 2764, 2025 dorsal root ganglia. But proximal myopathic EMG findings and sensory nerve action potentials are small or cardiomyopathy.6669 See Emery–Dreifuss X-linked mental retardation absent despite clinically normal syndrome. 4323 with fragile site See fragile-X sensation. syndrome. Variants are as follows: X-linked hydrocephalus Familial aqueductal stenosis causing obstructive A form in which hexosaminidase A and B X-linked microcephaly deficiencies exist, as in Sandhoff hydrocephalus, so inherited.619 disease.6290, 4788 A congenital dysmorphic syndrome A form resembling hereditary spastic manifesting also microcephaly, sensorineural 4085 X-linked leukodystrophies A large paraparesis. deafness, psychomotor retardation, seizures, and ill-defined group of peroxisomal X-linked spinal muscular atrophy with bulbar and spasticity.381 involvement, a syndrome of proximal limb, facial diseases in which cholesterol esters are and bulbar weakness, and wasting with adult Obesity is also present in a variant form. deposited. These stain red with fat stains onset, associated with gynecomastia and raised engendering the alternative term CSF protein levels, differing from Kennedy X-linked moderate hearing loss sudanophilic leukodystrophy. See syndrome mainly in its later age of onset.5313 A sex-linked disease manifesting the adrenoleukodystrophy, Pelizaeus– A form with early onset and rapid progression. childhood onset of a slowly progressive, Merzbacher disease. moderate neural hearing loss, but normal X-linked cerebellar ataxia An vestibular responses.3880 X-linked lissencephaly and X-linked ataxic syndrome with onset in subcortical band heterotopias infancy. Pyramidal signs appear later and myoclonic seizures, ophthalmoplegia, A genetically determined or sporadic X-linked muscular dystrophy sensorimotor peripheral neuropathy, condition presenting with mental (Mabry muscular dystrophy) lordosis, scoliosis, and pes cavus have been retardation and epilepsy, mainly in females, A pseudohypertrophic muscular dystrophy
xerodermic idiocy See xeroderma
X-linked spastic paraplegia
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disorders with similar histopathological findings, but the age of onset is later with a progressive clinical course. For further data, access http://www.neuro.wustl.edu/ neuromuscular/maltbrain.html/. X-linked pigmentary However, neonatal asphyxia alone is not a abnormalities and congenital symptom that may distinguish between an deafness A congenital, X-linked unfavorable and a more favorable prognosis. recessive disease characterized by severe The latter prognosis applied to a milder form neural deafness, large irregular spots of hypo- and hyperpigmentation, and impaired marked by development of spontaneous breathing, whereas such a development does vestibular function.3526 not occur in the rapidly fatal form. Thus, an adult age (though not complete well-being) X-linked recessive congenital may be reached by patients with milder muscle fiber hypotrophy with XLMTM. central nuclei A fatal congenital myopathy with the features suggested by the title.276 In a variant form, there is an added X-linked recessive ophthalmoplegia and myopia axonal neuropathy without segmental Complete or partial ophthalmoplegia with demyelination.1535 ptosis, abnormal pupillary shape, myopia, and X-linked recessive myotubular choroido-retinal degeneration, sometime hyporeflexia.5512 myopathy (XLMTM; MIM 310400) A rare congenital muscle disorder resulting from mutations in the MTMl gene, located X-linked scapuloperoneal muscular dystrophy One of a in Xq28, and characterized by severe hypotonia and generalized muscle weakness heterogeneous group of diseases manifesting at birth in affected males, most of whom die weakness and wasting of the proximal arm within the first year of life from respiratory and distal leg muscles which may have a myopathic or a neurogenic etiology; in this failure. The characteristic muscle case, an X-linked, childhood-onset muscular histopathology consists of small rounded dystrophy manifesting joint contractures muscle cells with centrally located nuclei and pes cavus as well as the muscular resembling fetal myotubes, suggesting that involvement but without the disorder results from a defect in the pseudohypertrophy. Type 2 fiber group structural organization or in the normal atrophy is detectable on muscle biopsy development of the muscle fibers. Autosomal specimens.5888 Progression is slow, but a centronuclear myopathies (CNM) are lethal cardiomyopathy may develop in adult disorders with similar histopathological 560 is linked to deutan findings, but the age of onset is later with a life. The condition 6281 color blindness. See also Emery– progressive clinical course. Dreifuss syndrome; the differences between X-linked recessive myotubular these disorders are minimal.
dysarthria lasting days, with onset in manifesting features similar to those of Becker muscular dystrophy, but with a later childhood and abating during adolescence.3883 onset and slower course.3983
X-linked muscular dystrophy with humeropelvic distribution, contractures, and cardiomyopathy See Emery–Dreifuss syndrome.
X-linked myoclonic epilepsy with generalized spasticity and intellectual disability (XMESID) A rare X-linked recessive form of myoclonic epilepsy, presenting with spasticity and intellectual disability, while carrier women are hyperreflexic. It is associated with a missense mutation in ARX and is allelic with X-linked infantile spasms (ISSX; MIM 308350) in which polyalanine tract expansions represent the molecular defect.5587 Mutations of ARX are associated with a wide range of phenotypes.
X-linked myopathies A group of muscle diseases sharing this pattern of inheritance. Such conditions include bulbospinal neuronopathy, Duchenne muscular dystrophy, Becker muscle dystrophy472 and related forms,3983 Emery–Dreifuss syndrome,1854 X-linked humeroperoneal muscular disease, X-linked dominant myopathy, dystrophin partial deficiency, Barth syndrome, X-linked myopathy with excessive autophagy, and McLeod syndrome6160 as well as other X-linked disorders separately listed under this letter. X-linked myopathy with excessive autophagy A benign, slowly progressive X-linked recessive proximal myopathy with onset in childhood or youth mapped to Xq28 with mild and slowly progressive limb-gridle weakness, slight increase in serum CK levels, and a myopathic EMG. Neither cardiac nor intellectual involvement is present. Biopsy evidence shows a vacuolar myopathy.3276, 4390 For further data, see http://www.neuro.wustl.edu/ neuromuscular/maltbrain.html/.
X-linked periodic ataxia A form of pyruvate dehydrogenase deficiency characterized by symptoms and pathology resembling those of Leigh disease, with intermittent episodes of ataxia and
myopathy (XLMTM; OMIM 310400) A rare, frequently lethal congenital muscle disorder resulting from mutations in the MTMl gene located at Xq28, and characterized by severe hypotonia and generalized muscle weakness at birth in affected males, most of whom die within the first year of life from respiratory failure.6508 The characteristic muscle histopathology consists of small rounded muscle cells with centrally located nuclei resembling fetal myotubes, suggesting that the disorder results from a defect in the structural organization or in the normal development of the muscle fibers. Autosomal centronuclear myopathies (CNM) are
X-linked sideroblastic anemia with ataxia A very rare syndrome characterized by motor delay, ataxia with onset in early childhood, and dysarthria; these are almost nonprogressive until later adult life. The haematological features are ineffective erythropoiesis with marked iron loading of the red cell precursors.2846
X-linked spastic paraplegia A congenital syndrome manifesting optic atrophy, strabismus, dysarthria, joint contractures, pyramidal signs, and psychomotor retardation. The responsible gene maps to Xq12–q22. See also hereditary
X-linked spinal and bulbar muscular atrophy spastic paraparesis and hereditary motor neuropathy.
X-linked spinal muscular atrophy with bulbar involvement See X-linked bulbospinal
X-linked spinal and bulbar muscular atrophy See X-linked
neuronopathy.
bulbospinal neuronopathy.
X-linked spinal muscular atrophy See X-linked bulbospinal neuronopathy.
X-linked spinobulbar muscular atrophy See X-linked bulbospinal neuronopathy.
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early adult onset, manifesting also sensorineural deafness and psychomotor retardation. See dystonia.
X-linked West syndrome A variant due to mutations in the ARX gene.
X-linked torsion dystonia An Xp21 myopathy See McLeod X-linked dystonic syndrome of childhood or syndrome.
y Yakolev, Paul Ivan (1894–1983)
Yale Children’s inventory A child- sclerosis, and brain tumors. Most of the
Russian-born neurologist and neuropathologist who trained at St. Petersburg, where at first he considered psychiatry as a career, but was dissuaded after listening to Pavlov’s lectures. After graduating with high honors, he escaped from revolutionary Russia to Finland in 1919. After some time in England, he was later able to study in Paris with Marie and Babinski and there obtained his M.D. degree after which he went to America and was appointed to positions in neurology and neuropathology at the Boston City Hospital under Stanley Cobb and later at the Harvard Medical School. He improved upon the methods then available for sectioning brains and published widely on cerebral malformations, mainly in the context of epilepsy. He eventually became clinical professor of neuropathology; his large collection of neuropathological specimens is now located at the Armed Forces Institute of Pathology as it is regarded as a national resource. Yakolev’s most important publications were on the functional anatomy of the limbic system and of thalamocortical relationships, and on neuroanatomy.3380
rating instrument responsive to DSM-III terminology used to assess pediatric neurobehavioral disorders. The inventory rates attention, habituation, activity, impulsivity, tractability, academic performance, and fine motor skills. (Shaywitz SE et al. Pediatrics 1988;81:562–566)
yawning (chasma, oscedo) (Gr, open mouth, Lat, yawning) ‘‘A slow inspiration and depression of the lower jaw, followed by brief tonic spasm of the muscles of inspiration, of the depressors and elevators of the lower jaw, of some of the facial muscles and of the muscles of the neck so that the head is drawn backward’’ (Sir William Gowers). It can often be inhibited and frequently is associated with stretching. Its occurrence is thought to be associated with an integrated discharge in a bulbospinal motor complex, which appears at a certain (depressed) level of excitability of the reticular activating system but the teleological benefit of this primitive movement pattern, a commonplace phenomenon halfway between a reflex and an expressive movement, is obscure. Pathologically, it is described in migraine, epilepsy, basal ganglion disorders, multiple
lesions, however, are infratentorial and a diencephalic yawning center has been hypothesized.
Year Book of Neurology and Neurosurgery An annual review book published by Elsevier. Web site: http://www.us.elsevierhealth.com/fcgi-bin/ displaypage.pl?isbn=05135117/.
yellow-blue color blindness (tritanopia) A dominantly inherited syndrome of confusion between blue-green and yellow-pink shades, considered due to a deficiency in the blue pigment in the retinal cones.6879
Yim syndrome A congenital dysmorphic syndrome, manifesting also severe skeletal and ocular maldevelopments, macrocephaly, cerebral atrophy, and hydrocephalus.381
yips Involuntary movements occurring during the execution of skilled, focused, finely controlled motor behavior, as in the game of golf. The movements emerge particularly during putting; golfers have used such descriptive terms for them as yips,
yoga footdrop
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twitch, staggers, waggles, jitters, jerks, or ‘‘them,’’ suggesting that muscle spasms, myoclonus, cramps, or tremor may variously be responsible.4212 Such eminent golfers as Sam Snead and Ben Hogan are reported to have been afflicted. The movements probably represent a form of focal dystonia resembling those of other sporting activities such as bowlers’ cramp.
Bekhterev, Guillain, Sicard, and others have also found that a noxious stimulus here is an effective way of eliciting the response. For neurologists who aspire to immortality, the bad news is that there is scarcely a square inch of the foot left for de novo stimulation, interpretation, and publication.
yoga footdrop A common peroneal
inherited distal form of hereditary motor neuropathy with onset in adolescence, affecting the arms before the legs and associated with laryngeal paresis.6930 2. (macrocephaly and callosal agenesis) A congenital dysmorphic syndrome manifesting also intestinal and cerebellar abnormalities, hydrocephalus, and mental and developmental delay.381
palsy resulting from remaining in the customary cross-legged position for a prolonged period. See also lotus footdrop.
Yolken syndrome A congenital dysmorphic syndrome, manifesting also genital and skeletal maldevelopments, deafness, blindness, and microcephaly.381 Yom Kippur headache A generalized nonthrobbing headache experienced in the middle of the day and associated with fasting. It is thought to reflect the effects of dehydration and is relieved by lying down.4509
Yoshimura reflex Yet another way of eliciting the plantar response, this time by stimulating the middle of the sole.
Young syndrome 1. A dominantly
young-onset benign occipital lobe epilepsy A form of focal epilepsy with an onset in the first decade of occasional prolonged (
