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Neuromuscular Disorders in Clinical Practice
Bashar Katirji • Henry J. Kaminski • Robert L. Ruff Editors
Neuromuscular Disorders in Clinical Practice
Second Edition
ISBN 978-1-4614-6566-9 ISBN 978-1-4614-6567-6 (eBook) DOI 10.1007/978-1-4614-6567-6 Springer New York Heidelberg Dordrecht London
Library of Congress Control Number: 2013942017
© Springer Science+Business Media New York 2014 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, speci fi cally the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on micro fi lms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied speci fi cally for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a speci fi c statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein.
Printed on acid-free paper
Springer is part of Springer Science+Business Media (www.springer.com)
Editors Bashar Katirji Neuromuscular Center & EMG Laboratory Department of Neurology The Neurological Institute University Hospitals Case Medical Center and Case Western Reserve University School of Medicine Cleveland , OH , USA
Henry J. Kaminski Department of Neurology George Washington University Washington , DC , USA
Robert L. Ruff Department of Neurology Louis Stokes Cleveland VA Medical Center and Case Western Reserve University School of Medicine Mail Stop 127(W)Cleveland , OH , USA
To our families, friends, and colleagues without whose support this work could not have been completed.
To my wife Patricia, our children Linda and Michael, my parents Zakaria and Malak, and my brothers Hassan and Ammar.
–BK
To all those dear to me, my father Edmund and mother Janina, my brother Ed, my second mother Louise and her husband Robert, but most of all the source of all that is good in my life, Adam, my boy and Linda, my wife.
–HJK
To daughters Emily and Elizabeth; my wife Suzanne and her children Julia, Daniel, and Antoine; Julia’s husband Greg; and Dan’s wife Nicole and grandchildren Matthew, Hannah, and Abigail.
–RLR
vii
Preface
Over a decade ago, the editors appreciated a need for a single textbook that would cover comprehensively all aspects of the broad fi eld of neuromuscular disease, which ultimately led to the publication of the fi rst edition of Neuromuscular Disorders in Clinical Practice . The book attempts to be comprehensive and clinically oriented with the goal of discussing all disorders of the peripheral nervous system and the techniques used to assess these disorders. It thus parallels other neurology subspecialty texts, such as those for epilepsy or cerebrovascular disease, or internal medicine subspecialty books, such as those for rheumatology, endocrinology, or cardiology.
The second edition mimics the organization of the fi rst. The book is divided into two parts, Part one discusses the approach to neuromuscular disorders followed by Part two dedicated to speci fi c neuromuscular disease. Part one begins with an introduction to the clinical assessment of neuromuscular disorders; though it is not meant to duplicate available monographs on neurological examination, the chapter sets the stage for the evaluation of patients with neuromuscular disease. The second chapter provides concise overview of basic anatomy and physiology of nerves and muscles. The next subsection covers investigative techniques used in evaluating neuromuscular diseases. These include laboratory studies (muscle enzymes, autoan-tibodies, and exercise testing) and clinical neurophysiology procedures (clinical EMG, single fi ber EMG, quantitative EMG analysis, quantitative sensory testing, autonomic testing), as well as nerve and muscle pathology. The new edition adds a chapter in skin biopsy performance and evaluation. The chapter on Molecular Diagnosis and Genetic Testing is updated extensively matching the signi fi cant knowledge increase in the last 10 years in this area.
The fi nal subsection of Part one is broad with discussions of assessment and treatment of neuromuscular disorders. Individual chapters include quantitative assessment and outcome measures, rehabilitation, immunotherapy, and critical and respiratory care in the management of patients with neuromuscular diseases.
Part two provides detailed discussions of speci fi c neuromuscular disorders. Most chapters are organized into etiology and pathogenesis, clinical presentation, differential diagnosis, evaluation and diagnosis, treatment and management, and prognosis. This approach was used in order to highlight the clinical emphasis of the book and correlate the clinical, electrodiag-nostic, pathological, biochemical, and genetic aspects of neuromuscular disorders. Part two is divided into six subparts. Section one deals with disorders of the motor neuron and dorsal root ganglia (neuronopathies). Section two covers all the peripheral neuropathies including inher-ited and acquired polyneuropathies, mononeuropathies, radiculopathies, and plexopathies. Section three discusses neuromuscular junction disorders. Section four reviews muscle chan-nelopathies, with a chapter devoted to disorders of muscle membrane excitability, including the periodic paralyses, non-dystrophic myotonias and related disorders, and a separate chapter on malignant hyperthermia. Section fi ve is devoted to the inherited and acquired myopathies. Section six is devoted to the numerous conditions that do not fi t neatly into one disorder or cross boundaries to other areas of the nervous system. The section discusses disorders of nerve hyperexcitability, including myokymia, neuromyotonia, muscle cramps, and fasciculations, as well as central nervous system disorders with neuromuscular manifestations, including stiff-man syndrome, and tetanus. Miscellaneous syndromes with neuromuscular presentations are
viii Preface
discussed, including paraneoplastic neuromuscular disorders, weakness in the intensive care unit, the fl oppy infant, rhabdomyolysis/myoglobinuria, and the fasciitis syndrome. The book ends with a chapter on neuropathic chronic musculoskeletal pain.
The second edition of Neuromuscular Disorders in Clinical Practice is intended to serve as a comprehensive text for both novice and experienced practitioners. General neurologists as well as specialists in neuromuscular medicine and trainees in neuromuscular medicine, clinical neurophysiology, and electromyography should fi nd this book inclusive and compre-hensive, yet practical and clinically relevant. Additionally, specialists in physical medicine and rehabilitation, rheumatology, neurosurgery, and orthopedics will fi nd the book useful in their practice.
The contributors are an internationally recognized group of clinicians and scientists special-izing in neuromuscular disorders, which allows for an appreciation of not only the science but the art of patient care. It is our hope that this text will provide the reader with the true fl avor of, the nuances of, and the breadth and depth of the subspecialty fi eld of neuromuscular disorders and thus enhance the care of patients with these conditions.
Cleveland, OH, USA Bashar Katirji Washington, DC, USA Henry J. Kaminski Cleveland, OH, USA Robert L. Ruff
ix
Acknowledgments
We gratefully acknowledge our present and former colleagues, fellows, and residents who have taught us and encouraged us throughout our careers. In addition, we are deeply indebted to Dr. Robert B. Daroff, whose guidance, support, and inspiration have been instrumental in our roles as physicians, teachers, and writers. We also thank Maria Smilios for keeping us organized and moving throughout the entire process. We thank Richard Lansing of Springer Publishing for appreciating the value of a new edition of Neuromuscular Disorders in Clinical Practice .
xi
Contents
Part I Approach to Neuromuscular Diseases: Principles and Basics
1 Clinical Assessment in Neuromuscular Disorders . . . . . . . . . . . . . . . . . . . . . . . 3Bashar Katirji
2 Nerve and Muscle: Basic Concepts. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21Francisco H. Andrade
Part II Approach to Neuromuscular Diseases: Neuromuscular Investigations
3 Serum Muscle Enzymes in Neuromuscular Disease . . . . . . . . . . . . . . . . . . . . . . 39Rahila Ansari and Bashar Katirji
4 Autoantibody Testing in Peripheral Neuropathy . . . . . . . . . . . . . . . . . . . . . . . . 51Alan Pestronk
5 Autoantibody Testing of Autoimmune Neuromuscular Junction, Hyperexcitability, and Muscle Disorders. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 69Elham Bayat and Henry J. Kaminski
6 Forearm Exercise Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 79Eugene Dulaney and Bashar Katirji
7 Clinical Electromyography (Nerve Conduction Studies and Needle Electromyography) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 89Barbara E. Shapiro, Bashar Katirji, and David C. Preston
8 Single-Fiber EMG . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 153James M. Gilchrist and Dinesh G. Nair
9 Quantitative EMG Analysis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 165Sanjeev D. Nandedkar and Paul E. Barkhaus
10 Testing of Autonomic Function . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 201Kamal R. Chémali and Thomas C. Chelimsky
11 Quantitative Sensory Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 223Pariwat Thaisetthawatkul
12 Nerve and Muscle Biopsies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 235J. Douglas Miles and Mark L. Cohen
13 Skin Biopsy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 261Lan Zhou
14 Molecular Diagnosis and Genetic Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 271Eric P. Hoffman, Lauren P. Hache, and Rose B. McGee
xii Contents
Part III Approach to Neuromuscular Diseases: Assessment and Treatment of Neurological Disorders
15 Outcome Measures and Clinical Assessment Instruments in Neuromuscular Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 287Jeffrey Rosenfeld and Carlayne E. Jackson
16 Physical Management of Patients with Neuromuscular Diseases . . . . . . . . . . . 327John R. Bach and Priya Bolikal
17 Immunotherapy in the Treatment of Autoimmune Neuromuscular Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 341Vibhav K. Bansal and Matthew N. Meriggioli
18 Critical and Respiratory Care in Neuromuscular Disorders. . . . . . . . . . . . . . . 363Osama O. Zaidat, Rana Hejal, and Jose I. Suarez
Part IV Neuromuscular Disorders: Neuronopathies (Motor Neuron and Dorsal Root Ganglion Disorders)
19 Poliomyelitis and Post-poliomyelitis Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . 383Kanokwan Boonyapisit
20 Amyotrophic Lateral Sclerosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 395Roisin Lonergan, Hiroshi Mistumoto, and Brian Murray
21 Spinal Muscular Atrophies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 425Bakri H. Elsheikh and John T. Kissel
22 Atypical Motor Neuron Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 441J. Americo M. Fernandes Filho and Eroboghene E. Ubogu
23 Dorsal Root Ganglion Disorders. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 467Ales Hlubocky and Benn E. Smith
Part V Neuromuscular Disorders: Peripheral Neuropathies
24 Approach to Peripheral Nerve Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 495David N. Herrmann and Eric L. Logigian
25 Approach to Small Fiber Neuropathy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 507Giuseppe Lauria, Ingemar S.J. Merkies, Stephen G. Waxman, and Catharina G. Faber
26 Charcot-Marie-Tooth Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 519Florian P. Thomas, Velina Guergueltcheva, Francisco De Assis Aquino Gondim, and Albena Jordanova
27 Inherited Metabolic Neuropathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 549Perry K. Richardson and Scott T. Demarest
28 Guillain-Barré Syndrome and Related Disorders . . . . . . . . . . . . . . . . . . . . . . . 573Ezequiel Agustin Piccione, Karim Salame, and Bashar Katirji
29 Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Related Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 605Eduardo Nobile-Orazio, Francesca Gallia, and Elda Judica
30 Dysproteinemic Neuropathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 633Elham Bayat and John J. Kelly
xiiiContents
31 Diabetic Neuropathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 647Shawn J. Bird and Mark J. Brown
32 Nutritional and Alcoholic Neuropathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 675Robert W. Shields Jr.
33 Metabolic and Endocrine Neuropathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 693Beth B. Murinson and Vinay Chaudhry
34 Environmental Toxic Neuropathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 703Michael T. Pulley and Alan R. Berger
35 Drug-Induced Toxic Neuropathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 715Kevin R. Hargrave, Gregory J. Ferenz, and Milind J. Kothari
36 Vasculitic Neuropathies and Neuropathies of Connective Tissue Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 733Michael P. Collins and John T. Kissel
37 Nonvasculitic Ischemic Neuropathies. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 787Bryan E. Tsao, Mark A. Ferrante, and Asa J. Wilbourn†
38 Infectious and Granulomatous Peripheral Neuropathies . . . . . . . . . . . . . . . . . 803Susan C. Shin, Sonja Schütz, Anthony P. Geraci, Enrique A. Wulff, and David M. Simpson
39 Peripheral Nerve Injury . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 825Amparo Gutierrez and John D. England
40 Compressive and Entrapment Neuropathies of the Upper Extremity . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 833David C. Preston
41 Compressive and Entrapment Neuropathies of the Lower Extremity . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 865Bashar Katirji
42 Cranial Nerve Palsies. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 915Vita Grynova Kesner and Christina Fournier
43 Peripheral Nerve Tumors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 927Loyola V. Gressot, Kim Islup, David G. Kline, and Daniel H. Kim
44 Cervical Radiculopathy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 943Kerry H. Levin
45 Lumbosacral and Thoracic Radiculopathies. . . . . . . . . . . . . . . . . . . . . . . . . . . . 963Elizabeth M. Raynor, Scott A. Boruchow, Rachel Nardin, and Galit Kleiner-Fisman
46 Brachial Plexopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 991Mark A. Ferrante and Bryan E. Tsao
47 Lumbosacral Plexopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1025Seward B. Rutkove and Tracy W. Sax
Part VI Neuromuscular Disorders: Neuromuscular Junction Disorders
48 Myasthenia Gravis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1037Henry J. Kaminski
xiv Contents
49 Lambert-Eaton Myasthenic Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1051Jan J.G.M. Verschuuren, Maarten J. Titulaer, and Paul Maddison
50 Botulism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1063Mark Keezer, Ruba Benini, and Colin Chalk
51 Congenital Myasthenic Syndromes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1073Andrew G. Engel
52 Toxic Neuromuscular Transmission Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . 1091James F. Howard Jr.
Part VII Neuromuscular Disorders: Muscle Ion Channel Disorders
53 Disorders of Skeletal Muscle Membrane Excitability: Myotonia Congenita, Paramyotonia Congenita, Periodic Paralysis, and Related Syndromes . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1111Robert L. Ruff and Barbara E. Shapiro
54 Malignant Hyperthermia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1149Tulio E. Bertorini
Part VIII Neuromuscular Disorders: Myopathies
55 Approach to Myopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1159Björn Oskarsson
56 Dystrophinopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1169Zarife Sahenk and Louise R. Rodino-Klapac
57 Limb-Girdle Muscular Dystrophies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1193Stanley Jones P. Iyadurai and Darine Kassar
58 Facioscapulohumeral Muscular Dystrophy. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1213Rabi Tawil
59 The Myotonic Dystrophies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1221Pichet Termsarasab, Wadih Baajour, Thananan Thammongkolchai, and Bashar Katirji
60 Oculopharyngeal Muscular Dystrophy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1239Bernard Brais, Nicolas Chrestian, Nicolas Dupré, Jean-Pierre Bouchard, and Guy Rouleau
61 Emery-Dreifuss Muscular Dystrophy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1247Luciano Merlini and Nadir Mario Maraldi
62 Congenital Myopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1257John B. Bodensteiner
63 Metabolic Myopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1273Salvatore DiMauro, Hasan Orhan Akman, and Carmen Paradas
64 Mitochondrial Myopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1297Salvatore DiMauro, Ichizo Nishino, and Michio Hirano
65 Inflammatory Myopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1317Namita Goyal and David A. Chad
xvContents
66 Paraspinous Myopathies: The Dropped Head and Bent Spine Syndromes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1331Numthip Chitravas and Bashar Katirji
67 Endocrine Myopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1341Michael R. Douglas, Zaki Hassan-Smith, and Robert L. Ruff
68 Toxic Myopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1365Ralph W. Kuncl and Gary J. Romano
69 Infectious and Granulomatous Myopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1389Kanokwan Boonyapisit
Part IX Neuromuscular Disorders: Miscellaneous Neuromuscular Disorders and Syndromes
70 Myokymia and Neuromyotonia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1411Anne F. Josiah and Laurie Gutmann
71 Muscle Cramps and Fasciculations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1417James B. Caress and Bandhu Paudyal
72 Stiff-Man Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1427Franco Folli, Annamaria Prioletta, Angelo Quattrini, and Giuseppe Galardi
73 Tetanus . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1441Jayashri Srinivasan and Thomas D. Sabin
74 Neuroleptic Malignant Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1449Prachi Mehndiratta, Yonatan Spolter, Blessing Igboeli, Martha Sajatovic, and Peter F. Buckley
75 Paraneoplastic Neuromuscular Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1463Betul Gundogdu, Myrna R. Rosenfeld, and Stacy A. Rudnicki
76 Acute Neuromuscular Weakness in the Intensive Care Unit . . . . . . . . . . . . . . . 1477David Lacomis and Ahmed El-Dokla
77 Floppy Infant . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1495Bassam A. Bassam
78 Rhabdomyolysis and Myoglobinuria . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1507Devanshi Jadhav and Henry J. Kaminski
79 Eosinophilia-Myalgia Syndrome, Eosinophilic Fasciitis, and Related Fasciitis Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1523Jeffrey A. Allen and John Varga
80 Neuropathic Pain and Other Chronic Musculoskeletal Pain Conditions . . . . . 1537Steven N. Sykes and Said R. Beydoun
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1555
xvii
Contributors
Hasan Orhan Akman, PhD Department of Neurology , Columbia University Medical Center , New York , NY , USA
Jeffrey A. Allen , MD Division of Neuromuscular Medicine, Department of Neurology , Northwestern University , Chicago , IL , USA
Francisco H. Andrade , PhD Department of Physiology , University of Kentucky , Lexington , KY , USA
Rahila Ansari , MD, MS Division of Neurology , Case Western Reserve University School of Medicine and Louis Stokes Cleveland Veterans Affairs Medical Center , Cleveland , OH , USA
Wadih Baajour , MB, ChB Department of Neurology , The Neurological Institute, University Hospital Case Medical Center, Case Western Reserve University School of Medicine , Cleveland , OH , USA
John R. Bach , MD Department of Physical Medicine and Rehabilitation , Rutgers New Jersey Medical School , Newark , NJ , USA
Department of Physical Medicine and Rehabilitation , University Hospital B-403 , Newark , NJ , USA
Vibhav K. Bansal , MD Department of Neurology , Michigan State University/Sparrow Health Systems , Holt , MI , USA
Paul E. Barkhaus , MD Department of Neurology , Medical College of Wisconsin/Froedtert Hospital , Milwaukee , WI , USA
Bassam A. Bassam , MD Department of Neurology , University of South Alabama , Mobile , AL , USA
Elham Bayat , MD Department of Neurology , George Washington University , Washington , DC , USA
Ruba Benini , MD, CM, PhD Department of Neurology & Neurosurgery , McGill University Health Centre, McGill University , Montreal , QC , Canada
Alan R. Berger , MD Department of Neurology , University of Florida College of Medicine , Jacksonville , FL , USA
Tulio E. Bertorini , MD Department of Neurology , The University of Tennessee Health Science Center , Memphis , TN , USA
Department of Neurology, Methodist University Hospital , Memphis , TN , USA
Said R. Beydoun , MD, FAAN Department of Neurology, Keck Medical Center , University of Southern California , Los Angeles , CA , USA
xviii Contributors
Shawn J. Bird Department of Neurology , Perelman School of Medicine, University of Pennsylvania , Philadelphia , PA , USA
John B. Bodensteiner , MD Child and Adolescent Neurology, Department of Neurology , Mayo Clinic , Rochester , MN , USA
Priya Bolikal , MD Department of Physical Medicine and Rehabilitation , New Jersey Medical School , Newark , NJ , USA
Kanokwan Boonyapisit , MD Division of Neurology, Department of Internal Medicine, Faculty of Medicine , Siriraj Hospital , Bangkok , Thailand
Scott A. Boruchow , MD Department of Neurology , Beth Israel Deaconess Medical Center , Boston , MA , USA
Jean-Pierre Bouchard , MD, FRCPC, FANN Department of Neurological Sciences , Universite Laval , Montreal , QC , Canada
Bernard Brais , MD, MPhil, PhD, FRCP Department of Neurology & Neurosurgery and Department of Human Genetics , Montreal Neurological Institute, McGill University , Montreal , QC , Canada
Mark J. Brown , MD Department of Neurology , Perelman School of Medicine, University of Pennsylvania , Philadelphia , PA , USA
Peter F. Buckley , MD Dean, Medical College of Georgia, Georgia Regents University , Augusta , GA , USA
James B. Caress , MD Department of Neurology , Wake Forest School of Medicine, Medical Center Boulevard , Winston-Salem , NC , USA
David A. Chad , MD Department of Neurology , Massachusetts General Hospital, Harvard Medical School , Boston , MA , USA
Colin Chalk , MD,CM, FRCPC Department of Neurology & Neurosurgery , McGill University Health Centre, McGill University , Montreal , QC , Canada
Vinay Chaudhry , MD, MBA, CPE, FAAN, FRCP (UK) Department of Neurology , Johns Hopkins University School of Medicine , Baltimore , MD , USA
EMG Laboratory , Neurology Outpatient Center, Johns Hopkins Hospital , Baltimore , MD , USA
Numthip Chitravas , MD Department of Neurology, The Neurological Institute , University Hospitals Case Medical Center and Case Western Reserve University School of Medicine , Cleveland , OH , USA
Thomas C. Chelimsky , MD Department of Neurology , Medical College of Wisconsin/Froedtert Hospital , Milwaukee , WI , USA
Kamal R. Chémali , MD Department of Clinical Neurology, Eastern Virginia Medical School, Neuromuscular and Autonomic Center, Music and Medicine Center, Sentara Health Care Norfolk , VA , USA
Nicolas Chrestian , MD Department of Neurological Sciences , CHAUQ (Enfant-Jésus) , Montreal , QC , Canada
Mark L. Cohen , MD Department of Pathology , University Hospitals Case Medical Center, Institute of Pathology, Case Western Reserve University School of Medicine , Cleveland , OH , USA
xixContributors
Michael P. Collins , MD Department of Neurology , Medical College of Wisconsin , Milwaukee , WI , USA
Scott T. Demarest , MD Department of Neurology , Children’s National Medical Center , Washington , DC , USA
Salvatore DiMauro , MD Department of Neurology , Columbia University Medical Center, 4-424B College of Physicians & Surgeons , New York , NY , USA
Michael R. Douglas , MBChB, BSc, PhD, MRCP (UK) Russells Hall Hospital, Dudley Group of Hospitals NHS Foundation Trust , Dudley, West Midlands , UK
Eugene Dulaney Department of Neurology , University of Vermont , Burlington, VT , USA
Nicolas Dupré , MD, MSc Department of Neurological Sciences , CHAUQ (Enfant-Jésus) , Montreal , QC , Canada
Ahmed El-Dokla , MD Department of Neurology , University of Pittsburgh School of Medicine , Pittsburgh , PA , USA
Andrew G. Engel , MD Department of Neurology , Mayo Clinic College of Medicine, Mayo Clinic , Rochester , MN , USA
John D. England , MD Department of Neurology , Louisiana State University Health Sciences Center-New Orleans , New Orleans , LA , USA
Bakri H. Elsheikh , MBBS, FRCP (Edin) Neuromuscular Division, EMG Laboratory , Wexner Medical Center and The Ohio State University , Columbus , OH , USA
Catharina G. Faber , MD, PhD Department of Neurology , Maastricht University Medical Center , Maastricht , The Netherlands
Gregory J. Ferenz , DO Department of Neurology , Penn State Hershey Medical Center , Hershey , PA , USA
J. Americo M. Fernandes Filho , MD Department of Neurological Sciences , University of Nebraska Medical Center, Neurology Section, VA Nebraska Western Iowa Health Care System , Omaha , NE , USA
Neurology Section , VA Nebraska-Western Iowa Health Care System , Omaha , NE , USA
Mark A. Ferrante , MD Department of Neurology , University of Tennessee Health Science Center , Memphis , TN , USA
Franco Folli , MD, PhD Diabetes Division, Department of Medicine , University of Texas Health Science Center at San Antonio , San Antonio , TX , USA
Christina Fournier , MD Department of Neurology , Emory University , Atlanta , GA , USA
Giuseppe Galardi , MD Department of Rehabilitation and Neurophysiology , Fondazione Istituto San Raffaele – Giglio , Cefalù – Palermo , Italy
Francesca Gallia , MD Department of Medical Biotechnology and Translational Medicine (BIOMETRA) , Milan University, 2nd Neurology, IRCCS Humanitas Clinical Institute , Milan , Rozzano , Italy
Anthony P. Geraci , MD Department of Neurology , Mount Sinai School of Medicine , Spring fi eld , IL , USA
James M. Gilchrist , MD Department of Neurology, Southern Illinois University School of Medicine , Spring fi eld , IL , USA
xx Contributors
Francisco De Assis Aquino Gondim , MD, PhD, FAAN Division of Neurology, Departamento de Medicina Clínica , Universidade Federal do Ceará, Faculty of Medicine Christus , Fortaleza , Ceará , Brazil
Namita Goyal , MD Department of Neurology , Massachusetts General Hospital, Harvard Medical School , Boston , MA , USA
Loyola V. Gressot , MD Department of Neurosurgery , Baylor College of Medicine , Houston , TX , USA
Velina Guergueltcheva , MD, PhD Department of Neurology , University Hospital Alexandrovska, Medical University-So fi a , So fi a , Bulgaria
Betul Gundogdu , MD Department of Neurology , University of Arkansas for Medical Sciences , Little Rock , AR , USA
Amparo Gutierrez , MD Department of Neurology , Louisiana State University Health Sciences Center-New Orleans , New Orleans , LA , USA
Laurie Gutmann , MD Department of Neurology , West Virginia University School of Medicine , Morgantown , WV , USA
Lauren P. Hache , MS Center for Genetic Medicine Research, Children’s National Medical Center , Washington , DC , USA
Zaki Hassan-Smith , MBBS, BMedSci, MRCP (UK) Centre for Endocrinology, Diabetes and Metabolism , University of Birmingham, Institute for Biomedical Research, School of Clinical and Experimental Medicine , Birmingham, West Midlands , UK
Kevin R. Hargrave , DO Department of Neurology, Lafayette , LA , USA
Rana Hejal , MD Division of Pulmonary/Critical Care and Sleep Medicine , Department of Medicine, University Hospital Case Medical Center, Case Western Reserve University School of Medicine , Cleveland , OH , USA
David N. Herrmann , MBBCh Department of Neurology , University of Rochester Medical Center and Strong Memorial Hospital , Rochester , NY , USA
Michio Hirano , MD Department of Neurology , Columbia University Medical Center , New York , NY , USA
Ales Hlubocky , MD EMG Laboratory, 3B, Mayo School of Graduate Medical Education , Mayo Clinic , Scottsdale , AZ , USA
Eric P. Hoffman , PhD Department of Integrative Systems Biology , George Washington University School of Medicine , Washington , DC , USA
Center for Genetic Medicine Research, Children’s National Medical Center , Washington , DC , USA
James F. Howard, Jr., MD Laboratory for Myasthenia Gravis Research, Department of Neurology, School of Medicine , The University of North Carolina at Chapel Hill , Chapel Hill , NC , USA
Blessing Igboeli , MD Department of Psychiatry , University Hospitals Case Medical Center, Case Western Reserve University School of Medicine , Cleveland , OH , USA
Kim Islup , MD Department of Neurosurgery , St. Vincent’s Hospital, The Catholic Univesity of Korea , Suwon, Kyounggi-do , South Korea
Stanley Jones P. Iyadurai , Msc, PhD, MD Department of Neurology & Psychiatry , Saint Louis University , St. Louis , MO , USA
xxiContributors
Carlayne E. Jackson , MD, FAAN Departments of Neurology and Otolaryngology , University of Texas Health Science Center , San Antonio , TX , USA
Devanshi Jadhav , MD Department of Neurology , George Washington University , Washington , DC , USA
Albena Jordanova , PhD Department of Molecular Genetics, Molecular Neurogenomics Group , VIB, and University of Antwerp , Antwerp , Belgium
Department of Chemistry and Biochemistry , Molecular Medicine Center, Medical University-So fi a , So fi a , Bulgaria
Anne F. Josiah , MD Department of Neurology , West Virginia University School of Medicine , Morgantown , WV , USA
Elda Judica , MD Department of Medical Biotechnology and Translational Medicine (BIOMETRA) , Milan University, 2nd Neurology, IRCCS Humanitas Clinical Institute , Milan , Rozzano , Italy
Henry J. Kaminski , MD Department of Neurology , George Washington University , Washington , DC , USA
Diane Kassar , MD Department of Neurology , St. Louis University , St. Louis , MO , USA
Bashar Katirji , MD, FACP Neuromuscular Center & EMG Laboratory , Department of Neurology, The Neurological Institute, University Hospitals Case Medical Center and Case Western Reserve University School of Medicine , Cleveland , OH , USA
Mark Keezer , MD, CM Department of Neurology & Neurosurgery , McGill University Health Centre, McGill University , Montreal , QC , Canada
John J. Kelly , MD Department of Neurology , Cooper Medical Center , Camden , NJ , USA
Vita Grynova Kesner , MD, PhD Department of Neurolgoy , Emory University , Atlanta , GA , USA
Daniel H. Kim , MD, FACS Department of Neurosurgery , University of Texas , Houston , TX , USA
John T. Kissel , MD Department of Neurology and Pediatrics , Wexner Medical Center and The Ohio State University , Columbus , OH , USA
Galit Kleiner-Fisman , MDCM Division of Neurology, Department of Medicine , University of Toronto, Baycrest Geriatric Center , Toronto , ON , Canada
David G. Kline , MD Department of Neurosurgery , LSU Health Science Center , New Orleans , LA , USA
Milind J. Kothari , DO Department of Neurology , Penn State Hershey Medical Center , Hershey , PA , USA
Ralph W. Kuncl , PhD, MD Of fi ce of the President , University of Redlands , Redlands , CA , USA
David Lacomis , MD Departments of Neurology and Pathology (Neuropathology) , University of Pittsburgh School of Medicine , Pittsburgh , PA , USA
Giuseppe Lauria , MD Neuromuscular Diseases Unit , IRCCS Foundation, Carlo Besta Neurological Institute , Milan , Italy
Kerry H. Levin , MD Department of Neurology , Neuromuscular Center, Cleveland Clinic, Cleveland Clinic Lerner College of Medicine , Cleveland , OH , USA
xxii Contributors
Eric L. Logigian , MD Department of Neurology , University of Rochester Medical Center and Strong Memorial Hospital , Rochester , NY , USA
Roisin Lonergan, MB, BCh, BAOMRCPI Department of Neurology , Mater Misericordiae Hospital , Dublin , Ireland
Paul Maddison , MD, FRCP Department of Neurology , Queen’s Medical Centre , Nottingham , UK
Nadir Mario Maraldi , MD Laboratory of Muscoloskeletal Cell Biology , Istituto Ortopedico Rizzoli , Bologna , Italy
Ingemar S. J. Merkies , MD, PhD Department of Neurology , Spaarne Hospital , Hoofddorp , The Netherlands
Department of Neurology , Maastricht University Medical Center, Maastricht , The Netherlands
Rose B. McGee Center for Genetic Medicine Research, Children’s National Medical Center , Washington , DC , USA
Department of Human Genetics , University of Pittsburgh School of Public Health , Pittsburgh , PA , USA
Prachi Mehndiratta , MD Department of Neurology , The Neurological Institute, University Hospitals Case Medical Center, Case Western Reserve University School of Medicine , Cleveland , OH , USA
Matthew N. Meriggioli , MD Novartis Institute for Biomedical Research , Cambridge , MA , USA
Luciano Merlini , MD Laboratory of Musculoskeletal Cell Biology , Istituto Ortopedico Rizzoli , Bologna , Italy
J. Douglas Miles , MD, PhD Department of Medicine, University of Hawaii John A. Burns School of Medicine , Honolulu , HI , USA
Neurohospitalist and Neuroscience Education , The Queen’s Medical Center, Honolulu , HI , USA
Hiroshi Mistumoto , MD, DSc Department of Neurology , Columbia University Medical Center , New York , NY , USA
Beth B. Murinson , MS (Biomath), MD, PhD Department of Neurology , Johns Hopkins University School of Medicine , Baltimore , MD , USA
Brian Murray, MB, BCh, BAO, MSc Department of Neurology, Hermitage Medical Clinic , Dublin , Ireland
Dublin Neurological Institute, Mater Misericordiae University Hospital , Dublin , Ireland
Dinesh G. Nair , MD, PhD Department of Neurology , Rhode Island Hospital , Providence , RI , USA
Sanjeev D. Nandedkar , PhD Natus Medical Inc. , Hopewell Junction , NY , USA
Rachel Nardin , MD Division of Neurology , Cambridge Health Alliance , Cambridge , MA , USA
Ichizo Nishino , MD, PhD Department of Neuromuscular Research , National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) , Tokyo , Japan
xxiiiContributors
Eduardo Nobile-Orazio , MD, PhD, FAAN Department of Medical Biotechnology and Translational Medicine (BIOMETRA) , Milan University, 2nd Neurology, IRCCS Humanitas Clinical Institute , Milan , Rozzano , Italy
Björn Oskarsson , MD Department of Neurology, UC Davis ALS Clinic , UC Davis Medical Center , Sacramento , CA , USA
Carman Paradas , MD, PhD Department of Neurology , Columbia University Medical Center , New York , NY , USA
Bandhu Paudyal , MD Department of Neurology , Wake Forest Health Sciences , Medical Center Boulevard, Winston-Salem , NC , USA
Alan Pestronk , MD Departments of Neurology, and Pathology and Immunology , Washington University in Saint Louis School of Medicine , Saint Louis , MO , USA
Ezequiel Agustin Piccione , MD Department of Neurology , The Neurological Institute, University Hospitals Case Medical Center and Case Western Reserve University School of Medicine , Cleveland , OH , USA
David C. Preston , MD Department of Neurology , Neurological Institute, University Hospitals Case Medical Center and Case Western Reserve University School of Medicine , Cleveland , OH , USA
Annamaria Prioletta , MD Diabetes Center Acismom , ACISMOM Associazione Dei Cavalieri Italiani, Sovrano Militare Ordine di Malta , Rome , Italy
Michael T. Pulley , MD, PhD Department of Neurology , University of Florida , Jacksonville , FL , USA
Angelo Quattrini , MD Division of Neuroscience – INSPE , San Raffaele Scienti fi c Institute , Milan , Italy
Elizabeth M. Raynor , MD Department of Neurology , Beth Israel Deaconess Medical Center and Harvard Medical School , Boston , MA , USA
Perry K. Richardson , MD Department of Neurology , The George Washington University , Washington , DC , USA
Louise R. Rodino-Klapac , PhD Department Pediatrics and Center for Gene Therapy , The Research Institute at Nationwide Children’s Hospital and The Ohio State University , Columbus , OH , USA
Gary J. Romano , MD Neuroscience Biomarkers , Janssen Research and Development , Titusville , NJ , USA
Jeffrey Rosenfeld , PhD, MD, FAAN Division of Neurology , UCSF Fresno, Central California Neuroscience Institute, University Neurology Associates , Fresno , CA , USA
Myrna R. Rosenfeld , MD, PhD Department of Neurology , Institute of Biomedical Investigations (IDIBAPS), Clinic Hospital , Barcelona , Spain
Guy Rouleau , MD, PhD Department of Research Center, Department of Medicine, Faculty of Medicine , Université de Montréal, CHU Sainte-Justine , Montreal , QC , Canada
Stacy A. Rudnicki , MD Department of Neurology , University of Arkansas for Medical Sciences , Little Rock, AR , USA
Robert L. Ruff , MD, PhD Department of Neurology , Louis Stokes Cleveland VA Medical Center, Case Western Reserve University School of Medicine , Cleveland , OH , USA
xxiv Contributors
Seward B. Rutkove , MD Department of Neurology , Beth Israel Deaconess Medical Center and Harvard Medical School , Boston , MA , USA
Thomas D. Sabin , MD Department of Neurology , Tufts Medical Center and Tufts University School of Medicine , Boston , MA , USA
Zarife Sahenk , MD, PhD Department of Pediatrics and Center for Gene Therapy , The Research Institute at Nationwide Children’s Hospital and The Ohio State , Columbus , OH , USA
Martha Sajatovic , MD Department of Psychiatry, Neurological Institute , Neurological and Behavioral Outcomes Center, University Hospitals Case Medical Center, Case Western Reserve University School of Medicine , Cleveland , OH , USA
Karim Salame , MD Department of Neurology , The Neurological Institute, University Hospital Case Medical Center and Case Western Reserve University School of Medicine , Cleveland , OH , USA
Tracy W. Sax , MD Department of Neurology , Peace Health Southwest Medical Center , Vancouver , WA , USA
Sonja Schütz , MD, MSc Department of Neurology , Mount Sinai Medical Center , New York , NY , USA
Barbara E. Shapiro , MD, PhD Department of Neurology , Neurological Institute, University Hospitals Case Medical Center and Case Western Reserve University School of Medicine , Cleveland , OH , USA
Robert W. Shields, Jr., MD Department of Neurology , Center for Syncope and Autonomic Disorders, Neuromuscular Section , Neurological Institute, Cleveland Clinic , Cleveland , OH , USA
Susan C. Shin , MD Department of Neurology , Mount Sinai Medical Center , New York , NY , USA
David M. Simpson , MD, FAAN Department of Neurology , Mount Sinai Medical Center , New York , NY , USA
Benn E. Smith , MD EMG Laboratory, 3B, Mayo Medical School , Mayo Clinic , Scottsdale , AZ , USA
Yonatan Spolter , MD Department of Neurology , Neurological Institute, University Hospital Case Medical Center, Case Western Reserve University School of Medicine , Cleveland , OH , USA
Jayashri Srinivasan , MBBS, PhD, FRCP (UK) Department of Neurology , Lahey Clinic , Burlington , MA , USA
Department of Neurology , Tufts University School of Medicine , Boston , MA , USA
Jose I. Suarez , MD Department of Neurology , Baylor College of Medicine , Houston , TX , USA
Steven N. Sykes , MD Department of Neurology , Cedars-Sinai Medical Center , Beverly Hills , CA , USA
Rabi Tawil , MD Department of Neurology , University of Rochester School of Medicine and Dentistry , Rochester , NY , USA
Pichet Termsarasab , MD Department of Neurology , The Neurological Institute, University Hospital Case Medical Center, Case Western Reserve University School of Medicine , Cleveland , OH , USA
xxvContributors
Pariwat Thaisetthawatkul , MD Department of Neurological Sciences , University of Nebraska Medical Center , Omaha , NE , USA
Thananan Thammongkolchai , MD Department of Neurology , The Neurological Institute, University Hospitals Case Medical Center, Case Western Reserve University School of Medicine , Cleveland , OH , USA
Maarten J. Titulaer , MD, PhD Departments of Neurology , Hospital Clinic/Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) and Leiden University Medical Center , Barcelona , Spain
Florian P. Thomas , MD, MA, PhD, FAAN, FANA Department of Neurology and Psychiatry , Institute for Molecular Virology, Saint Louis University School of Medicine , St. Louis , MO , USA
Bryan E. Tsao , MD Department of Neurology , School of Medicine Loma, Linda University , Loma Linda , CA , USA
Eroboghene E. Ubogu , MD Department of Neurology, Neuromuscular Immunopathology Research Laboratory , Baylor College of Medicine , Houston , TX , USA
John Varga , MD Department of Rheumatology , Northwestern University , Chicago , IL , USA
Jan J. G. M. Verschuuren , MD, PhD Department of Neurology , Leiden University Medical Center , Leiden , The Netherlands
Stephen G. Waxman , MD, PhD Department of Neurology , Yale University School of Medicine, and Center for Neuroscience and Regeneration Research, Veterans Affairs Medical Center , CT , USA
Asa J. Wilbourn † , MD Department of Neurology, Cleveland Clinic, Case Western Reserve University School of Medicine , Cleveland , OH , USA
Enrique A. Wulff , MD Department of Neurology , St. Benedict’s Hospital Mission Doctors Association , Los Angeles , CA , USA
Osama O. Zaidat , MD, MSc Department of Neurology , Medical College of Wisconsin and Froedtert Hospital , Milwaukee , WI , USA
Lan Zhou , MD, PhD Department of Neurology , Mount Sinai School of Medicine , New York , NY , USA