Hyperkinetic Movement Disorders Differential diagnosis and treatment Albanese_ffirs.indd i 1/23/2012 10:47:45 AM Wiley Desktop Edition This book gives you free access to a Wiley Desktop Edition – a digital, interactive version of your book available on your PC, Mac, laptop or Apple mobile device. To access your Wiley Desktop Edition: • Find the redemption code on the inside front cover of this book and carefully scratch away the top coating of the label. • Visit “http://www.vitalsource.com/software/bookshelf/downloads” to download the Bookshelf application. • Open the Bookshelf application on your computer and register for an account. • Follow the registration process and enter your redemption code to download your digital book. • For full access instructions, visit “http://www.wiley.com/go/albanese/movement” Companion Web Site A companion site with all the videos cited in this book can be found at: www.wiley.com/go/albanese/movement Albanese_ffirs.indd ii 1/23/2012 10:47:45 AM Hyperkinetic Movement Disorders Differential diagnosis and treatment EDITED BY Alberto Albanese MD Professor of Neurology Fondazione IRCCS Istituto Neurologico Carlo Besta Università Cattolica del Sacro Cuore, Milan, Italy Joseph Jankovic MD Professor of Neurology Director, Parkinson’s Disease Center and Movement Disorders Clinic Department of Neurology Baylor College of Medicine Houston, TX, USA A John Wiley & Sons, Ltd., Publication Albanese_ffirs.indd iii 1/23/2012 10:47:45 AM This edition first published 2012, © 2012 by Blackwell Publishing Ltd Blackwell Publishing was acquired by John Wiley & Sons in February 2007. 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No warranty may be created or extended by any promotional statements for this work. Neither the publisher nor the author shall be liable for any damages arising herefrom. Library of Congress Cataloging-in-Publication Data Hyperkinetic movement disorders : differential diagnosis and treatment / edited by Alberto Albanese, Joseph Jankovic. p. ; cm. Includes bibliographical references and index. ISBN-13: 978-1-4443-3352-7 (hard cover : alk. paper) ISBN-10: 1-4443-3352-6 (hard cover : alk. paper) ISBN-13: 978-1-4443-4615-2 (ePDF) ISBN-13: 978-1-4443-4618-3 (Wiley Online Library) [etc.] 1. Hyperkinesia. 2. Diagnosis, Differential. I. Albanese, Alberto. II. Jankovic, Joseph. [DNLM: 1. Hyperkinesis. 2. Movement Disorders. 3. Diagnosis, Differential. WL 390] RC376.5.H96 2012 616.85′89–dc23 2011020595 A catalogue record for this book is available from the British Library. Wiley also publishes its books in a variety of electronic formats. Some content that appears in print may not be available in electronic books. Set in 9/12pt Meridien by SPi Publisher Services, Pondicherry, India 1 2012 Albanese_ffirs.indd iv 1/23/2012 10:47:46 AM Contents Preface, vii List of Contributors, viii List of Videos, x Part 1 General Issues in Hyperkinetic Disorders, 1 1 Distinguishing Clinical Features of Hyperkinetic Disorders, 3 Alberto Albanese and Joseph Jankovic 2 Pathophysiology and Molecular Pathology of Dystonia and Tics, 15 Marie Vidailhet, Michael Schupbach, and David Grabli 3 Pathophysiology and Molecular Pathology of Tremor, Myoclonus, and Chorea, 26 Johannes D. Speelman, Elisabeth M. Foncke, Anne-Fleur van Rootselaar, and Marina A. Tijssen 4 Overview of the Medical Treatments of Hyperkinetic Disorders, 40 William Ondo 5 Overview of Surgical Treatment Possibilities in Hyperkinetic Disorders, 49 Vinata Vedam-Mai, Oscar Bernal, and Michael S. Okun Part 2 Tremor Syndromes, 71 6 Essential Tremor, 73 Julián Benito-León and Elan D. Louis 7 Other Tremors, 95 Claustre Pont-Sunyer, Eduardo Tolosa and Judith Navarro-Otano Part 3 Dystonia Syndromes, 113 8 Primary Dystonias, 115 Antonio E. Elia and Alberto Albanese 9 Secondary Dystonias, 135 Susanne A. Schneider Part 4 Chorea Syndromes, 147 10 Huntington Disease and Other Genetic Choreas, 149 Ainhi Ha and Joseph Jankovic v Albanese_ftoc.indd v 1/23/2012 10:59:08 AM vi Contents 11 Acquired Choreas, 175 Ruth H. Walker 12 Tics and Tourette Syndrome, 188 Joseph Jankovic 13 Secondary Tics, 200 Francisco Cardoso Part 5 Myoclonus Syndromes, 207 14 Inherited Myoclonus Syndromes, 209 Emmanuel Roze and Emmanuelle Apartis 15 Segmental Myoclonus, 221 John Nathaniel Caviness 16 Other Jerks and Startles, 236 Codrin Lungu and Mark Hallett Part 6 Ataxias, 257 17 Clinical and Pathophysiological Features of Cerebellar Dysfunction, 259 Giuliana Grimaldi and Mario Manto 18 Inherited and Sporadic Ataxias, 279 Hélio A.G. Teive, Renato P. Munhoz, and Tetsuo Ashizawa Part 7 Other Hyperkinetic Disorders, 297 19 Dyskinesias in Parkinsonian Syndromes, 299 S. Elizabeth Zauber and Christopher G. Goetz 20 Restless Legs Syndrome, 311 Pamela Hamilton-Stubbs and Arthur S. Walters 21 Tardive Dyskinesias, 331 Gonzalo J. Revuelta, Leslie Cloud, Pratibha G. Aia, and Stewart A. Factor 22 Stereotypies and Other Developmental Hyperkinesias, 353 Jayasri Srinivasan and Jonathan W. Mink 23 Paroxysmal Dyskinesias, 363 Miryam Carecchio, João Massano, and Kailash P. Bhatia 24 Psychogenic Movement Disorders, 375 Stanley Fahn Index, 385 A companion site with all the videos cited in this book can be found at: www.wiley.com/go/albanese/movement Albanese_ftoc.indd vi 1/23/2012 10:59:08 AM Preface Hyperkinetic movement disorders have always effective and safe medical and surgical treatment puzzled neurologists and other clinicians because of strategies. Appropriate diagnosis, however, is criti- uncertainties about their classification and treat- cal before the most suitable disease-specific treat- ment. At first sight, many hyperkinetic disorders ment is selected and offered to the patient. may look alike, but a closer examination of their Because of diagnostic challenges in the field of phenomenology, including pattern, rhythm, and hyperkinetic movement disorders many patients anatomic distribution, usually allows for their seek multiple opinions. These consultations are proper categorization. Although in general sometimes done informally and facilitated by neurology, clinical anatomical correlates are the exchanging patient videos. Personal experience cornerstone of diagnosis, in movement disorders and expert knowledge are perhaps more important phenomenology has an essential role. In our training in this field than other neurological disciplines.