Muscle Disease E-Book

• Herausgeber: John Wiley & Sons
• Kategorie: Fachliteratur
• Sprache: Englisch

Seitenzahl: 1057

Veröffentlichungsjahr: 2013

Beschreibung

Written by more than 60 international experts in the field, Muscle Disease embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years.

In order to accommodate the new complex principles involved, the book is organized around the motor unit and the inherited disorders, in particular, are centered on the ultrastructure and organelles within the muscle fiber.  In this way, the wide spectrum of muscle diseases, ranging from neurogenic and inflammatory disorders to those involving defects in a single gene, can be expressed in a logical sequence.  For example, disorders that principally involve specific organelles or particular metabolic processes are grouped together, with sections on disorders of the sarcolemma, mitochondria, myofibrils, glycogen and lipid metabolism, etc.  Firm reference to clinical aspects and classification of muscle diseases has been maintained throughout the book with an initial clinical overview and with specific clinical sections in each chapter.  For ease of navigation through the complex variety of muscle diseases, each chapter has been organized in a standard pattern that allows the reader to easily locate information on individual disease entities in different chapters.

This new edition of Muscle Disease: Pathology and Genetics will be a very valuable resource for clinicians, pathologists, geneticists and basic neuroscientists involved in diagnosis, research, treatment and management of patients with muscle disease.

Leseprobe

Table of Contents

Advisory Editors

Title page

Copyright page

List of Contributors

Preface

List of Abbreviations

1: Introduction to Muscle Disease: Pathology and Genetics

Introduction

Structure of the book

Conclusion

Section 1: Assessment of Muscle Disease

2: Clinical Features of Muscle Disease

Introduction

Clinical history and examination

Conclusion

3: General Pathology of Muscle Disease

Introduction

Selection of muscle to biopsy

Biopsy technique

Tissue preparation

Use of other tissues for diagnosis

Development of human muscle

Histological and histochemical features of normal muscle

Histological and histochemical defects in pathological muscle

Structural abnormalities

Absence of an enzyme

Storage of a product

Immunohistochemistry

Electron microscopy

Future perspectives

4: Genetics of Muscle Disease

Introduction

Discovery of genes causing muscle disease

Benefits of finding the mutation causing a disease in a patient

Types of DNA mutations

Blurring of traditional clinical classifications – parallel nosologies

Mutations within the same gene can cause a spectrum of phenotypes (as classified by classic nosology)

One disease-related pathology can be caused by mutations in different genes

Some genes are to date only implicated in one disease

Some muscle proteins have not yet been associated with human disease

Interesting recent developments

The way forward, addressing the grand challenges in the genetics of muscle disease

Conclusions and future perspectives

Section 2: Neurogenic Muscle Disease

5: Neurogenic Muscle Pathology

Defining denervation

Clinical features

Pathophysiology

Pathological changes

Fetal and infantile denervation

Differential diagnosis

Section 3: Diseases of Neuromuscular Transmission

6: Autoimmune Myasthenias

Introduction

Incidence

Clinical features

Investigations

Treatment and prognosis

Pathology

Genetics

Differential diagnosis

Animal models

Lambert–Eaton myasthenic syndrome

7: Congenital Myasthenic Syndromes

Introduction

The neuromuscular junction

Clinical features of congenital myasthenic syndromes

Conclusions and future perspectives

Section 4: Sarcolemma: Muscular Dystrophies and Related Disorders

8: Dystrophin and Its Associated Glycoprotein Complex

Introduction

Incidence

Clinical features

Pathology

Genetics

Animal models

Conclusions and future perspectives

9: Proteins of the Extracellular Matrix

Introduction

Congenital muscular dystrophies

Laminin α2 primary deficiency

Collagen VI-related myopathies

Perlecan-related disorders

Laminin β2 and agrin-related disorders

Animal models for extracellular matrix-related disorders

Conclusions and future perspectives

10: Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF/Cavin, Integrin α7, and Integrin α9

Introduction

Dysferlin

Caveolin-3

Polymerase I and transcript release factor/cavin-1

Integrin α7 and integrin α9

11: Sarcolemmal Ion Channelopathies

Introduction and classification

Prevalence, genetics, and pathophysiology

Clinical features

Histopathology

Magnetic resonance imaging

Therapy

Differential diagnosis

Animal models

Conclusions and future perspectives

Section 5: Disorders of Nuclear Proteins and Nuclear Positioning

12: Proteins of the Nuclear Membrane and Matrix

Introduction

Clinical features

Muscle pathology associated with defects in nuclear membrane proteins

Genetics

Animal models

Conclusions and future perspectives

13: Centronuclear Myopathies

Introduction

Clinical, histopathological, immunocytochemical, and electron microscopy features

Genetic bases of centronuclear myopathies

Differential myopathological diagnosis

Animal models

Section 6: Early- and Late-Onset Disorders of Myofibrils

14: Thin Filament Proteins: Nemaline and Related Congenital Myopathies

Introduction

Sarcomeric thin filaments

α-Skeletal actin (ACTA1)

Tropomyosins

Troponins (TNNT1, TNNT3, and TNNI2)

Cofilin-2 (CFL2)

Conclusions and future perspectives

15: Nebulin: Nemaline Myopathies and Associated Disorders

Introduction

Incidence

Clinical features

Pathology

Genetics

Differential myopathological diagnosis

Animal models

Conclusions and future perspectives

16: Myosins

Introduction

Autosomal dominant myosin heavy chain IIa myopathy, inclusion body myopathy 3

Autosomal recessive myosin heavy chain IIa myopathy

Myosin storage myopathy

Laing early-onset distal myopathy

Scapuloperoneal and limb-girdle syndromes

Distal arthrogryposis syndromes

Animal models

Conclusions and future perspectives

17: Disorders Caused by Mutant Z-disk Proteins

Definitions of entities

Clinical features

Pathology

Genetics and pathophysiology

Differential myopathological diagnosis

Future directions

18: Titin-related Distal Myopathies

Introduction

Epidemiology

Clinical features

Pathology

Genetics

Differential myopathological diagnosis

Animal models

Conclusions and future perspectives

19: Scapuloperoneal Disorders and Reducing Body Myopathy Associated with the Four and Half LIM Domain Protein 1

Introduction

Scapuloperoneal disorders

Reducing body myopathy

Genetics of FHL1opathies

Conclusion

Section 7: Disorders Associated with Intermediate Filaments

20: Desminopathies

Introduction

Incidence, sex, age, and geographical distribution

Clinical features

Pathology

Genetics

Differential myopathological diagnosis

Molecular pathogenesis and animal models

Conclusions and future perspectives

21: Plectinopathies

Introduction

Incidence, sex, age, and geographical distribution

Clinical features

Pathology

Genetics

Molecular pathogenesis and animal models

Conclusions and future perspectives

Section 8: Mitochondria

22: Mitochondrial Myopathies

Introduction

Incidence and prevalence

Clinical features

Pathology

Genetics

Structural abnormalities of mitochondria in other disorders

Animal models

Conclusions and future perspectives

Section 9: Sarcoplasmic Reticulum and T-tubules

23: Core Myopathies, Malignant Hyperthermia Susceptibility, and Brody Disease

Introduction

Incidence

Clinical features

Pathology

Genetics

Differential diagnosis

Animal models

Conclusions and future perspectives

Section 10: Cytoplasmic Proteins

24: Enzymes: Cytosolic Proteins Calpain-3, SEPN1, and GNE

Introduction

Calpain-3

SEPN1

Pathology

GNE

25: Proteins of Autophagy: LAMP-2, VMA21, VCP, and TRIM32

Introduction

LAMP-2 and Danon disease

Other myopathies with autophagic vacuoles with sarcolemmal features

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, a neurodegenerative disease due to valosin-containing protein mutation

Tripartite motif protein 32 mutations in limb-girdle muscular dystrophy 2H or sarcotubular myopathy

Other relevant proteins implicated in autophagy

Conclusion

26: Chaperone Proteins

Introduction

Incidence

Clinical features

Pathology

Genetics

Differential myopathological diagnosis

Animal models

Conclusions and future perspectives

27: Kelch Proteins

Kelch protein myopathies

Section 11: Metabolic and Storage Disorders

28: Disorders of Muscle Glycogen Metabolism

Introduction

Clinical overview

Muscle pathology

Overview of genetics and prevalence

Glycogenoses with exercise-induced symptoms

Glycogenoses associated with muscle weakness and atrophy

29: Disorders of Lipid Metabolism

Introduction

Carnitine palmitoyltransferase 2 deficiency

Very long-chain acylcoenzyme A dehydrogenase deficiency

Mitochondrial trifunctional protein deficiency

Phosphatidic acid phosphatase (lipin) deficiency

Primary carnitine deficiency

Multiple acylcoenzyme A dehydrogenase deficiency

Neutral lipid storage disease with ichthyosis or myopathy

Conclusions and future perspectives

Section 12: Muscle Diseases with DNA Expansions

30: Myotonic Dystrophies Type 1 and 2

Introduction

Incidence

Clinical features

Histopathology of congenital and childhood myotonic dystrophies

Histopathology and electron microscopy of myotonic dystrophy type 1

Histopathology and electron microscopy of myotonic dystrophy type 2

Genetics

Differential clinical and pathological diagnosis

Animal models

Conclusions and future perspectives

31: Oculopharyngeal Muscular Dystrophy

Definition of entities

Molecular genetics and pathophysiology

Structural changes

Genotype-phenotype correlation

Future perspectives

Section 13: Facioscapulohumeral Dystrophy

32: Facioscapulohumeral Dystrophy

Introduction

Incidence, gender, age, and geographic distribution

Clinical features

Therapy

Pathology

Myopathological differential diagnosis

Pathogenesis: genetics, epigenetics, transcriptional factors

The current facioscapulohumeral muscular dystrophy pathogenesis model: genetic abnormalities permit epigenetic and transcriptional defects leading to facioscapulohumeral muscular dystrophy

Animal models

Conclusions and future perspectives

Section 14: Inflammatory Myopathies

33: Polymyositis, Dermatomyositis, and Inclusion Body Myositis

Introduction and classification

Treatment

Epidemiology

Investigation

Polymyositis

Dermatomyositis

Juvenile dermatomyositis

Clinically amyopathic dermatomyositis

Sporadic inclusion body myositis

Autoantibodies

Genetic susceptibility to idiopathic inflammatory myopathies

Histological differential diagnosis

Animal models of disease

Conclusions and future perspectives

34: Muscle Involvement in Connective Tissue Disorders: Polyarteritis, Rheumatoid Arthritis, Systemic Lupus Erythematosus, Systemic Sclerosis, and Sjögren Syndrome

Definition

Incidence

Clinical features

Pathology

Genetics

Differential myopathological diagnosis

35: Granulomatous and Other Immune-mediated Myopathies

Introduction

Neuromuscular sarcoidosis

Immune-mediated necrotizing myopathy

Eosinophilic fasciitis

Wegener’granulomatosis and Churg–Strauss syndrome

Macrophagic myofasciitis

36: Muscle Disorders Associated with Infections

Introduction

Viral myositis

Bacterial myositis

Fungal myositis

Parasitic myositis

Future perspectives

Section 15: Toxic Myopathies

37: Reactions of Muscle to Toxins and Drugs

Introduction

Approach to diagnosis

Necrotizing myopathy

Inflammatory myopathy

Focal myopathy

Mitochondrial myopathy

Chronic alcoholic myopathy

Steroid myopathy

Critical illness myopathy

Vacuolar myopathy

Myofibrillar myopathy

Section 16: Aging and Systemic Disease

38: Muscle Disease Associated with Age and Systemic Disorders

Aging and muscle

Cancer-related muscle disease

Amyloid myopathy

Endocrine myopathies

Disorders of calcium and vitamin D metabolism

Vitamin E abnormalities

Section 17: Rare Structural Abnormalities

39: Disorders of Muscle with Rare Structural Abnormalities

Introduction

Tubular aggregate myopathies

Cylindrical spirals myopathy

Myopathy with hexagonally cross-linked crystalloid inclusions

Other myopathies with crystalloid inclusions

Fingerprint body myopathy

Differential myopathological aspects

Animal models

Other rare myopathies

Conclusions and future perspective

Index

Advisory Editors

Carsten Bönnemann, Washington, DC, USA

Marianne de Visser, Amsterdam, The Netherlands

Romain K. Gherardi, Paris, France

Janice Holton, London, UK

Nigel Laing, Perth, Australia

Steven Moore, Iowa City, IA, USA

Ichizo Nishino, Tokyo, Japan

Anders Oldfors, Gothenburg, Sweden

Hannes Vogel, Stanford, CA, USA

This edition first published 2013; © 2013 by International Society of Neuropathology

Wiley-Blackwell is an imprint of John Wiley & Sons, formed by the merger of Wiley's global Scientific, Technical and Medical business with Blackwell Publishing.

Registered office: John Wiley & Sons, Ltd, The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK

Editorial offices: 9600 Garsington Road, Oxford, OX4 2DQ, UK

The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK

111 River Street, Hoboken, NJ 07030-5774, USA

For details of our global editorial offices, for customer services and for information about how to apply for permission to reuse the copyright material in this book please see our website at www.wiley.com/wiley-blackwell

The right of the author to be identified as the author of this work has been asserted in accordance with the UK Copyright, Designs and Patents Act 1988.

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, except as permitted by the UK Copyright, Designs and Patents Act 1988, without the prior permission of the publisher.

Designations used by companies to distinguish their products are often claimed as trademarks. All brand names and product names used in this book are trade names, service marks, trademarks or registered trademarks of their respective owners. The publisher is not associated with any product or vendor mentioned in this book. This publication is designed to provide accurate and authoritative information in regard to the subject matter covered. It is sold on the understanding that the publisher is not engaged in rendering professional services. If professional advice or other expert assistance is required, the services of a competent professional should be sought.

The contents of this work are intended to further general scientific research, understanding, and discussion only and are not intended and should not be relied upon as recommending or promoting a specific method, diagnosis, or treatment by physicians for any particular patient. The publisher and the author make no representations or warranties with respect to the accuracy or completeness of the contents of this work and specifically disclaim all warranties, including without limitation any implied warranties of fitness for a particular purpose. In view of ongoing research, equipment modifications, changes in governmental regulations, and the constant flow of information relating to the use of medicines, equipment, and devices, the reader is urged to review and evaluate the information provided in the package insert or instructions for each medicine, equipment, or device for, among other things, any changes in the instructions or indication of usage and for added warnings and precautions. Readers should consult with a specialist where appropriate. The fact that an organization or website is referred to in this work as a citation and/or a potential source of further information does not mean that the author or the publisher endorses the information the organization or website may provide or recommendations it may make. Further, readers should be aware that internet websites listed in this work may have changed or disappeared between when this work was written and when it is read. 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

Muscle disease : pathology and genetics / edited by Hans H. Goebel, Caroline A. Sewry, Roy O. Weller. – Second edition.

p. ; cm.

Preceded by (work): Structural and molecular basis of skeletal muscle diseases / volume editor, George Karpati. Basel : ISN Neuropath Press, c2002.

Includes bibliographical references and index.

ISBN 978-0-470-67205-1 (hardback : alk. paper) – ISBN 978-1-118-63546-9 – ISBN 978-1-118-63547-6 (Mobi) – ISBN 978-1-118-63548-3 (ePub) – ISBN 978-1-118-63549-0

I. Goebel, H.-H., editor of compilation. II. Sewry, Caroline A., editor of compilation. III. Weller, Roy O., editor of compilation. IV. International Society of Neuropathology, issuing body. V. Structural and molecular basis of skeletal muscle diseases. Preceded by (work):

[DNLM: 1. Muscular Diseases–pathology. 2. Muscular Diseases–genetics. WE 550]

RC927

616.7'4–dc23

2013010900

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.

Cover design by Meaden Creative

List of Contributors

Eleonora Aronica

Department of (Neuro) Pathology

Academisch Medisch Centrum

Amsterdam, The Netherlands

Email:[email protected]

Rita Barresi

NSCT Diagnostic & Advisory Service for Rare Neuromuscular Diseases

Muscle Immunoanalysis Unit, Dental Hospital

Newcastle upon Tyne, UK

Email:[email protected]

Alan H. Beggs

Division of Genetics and Program in Genomics

The Manton Center for Orphan Disease Research Boston Children's Hospital

Harvard Medical School

Boston, MA, USA

Email:[email protected]

Carsten G. Bönnemann

Neuromuscular and Neurogenetic Disorders of Childhood

National Institute of Neurological Disorders and Stroke

National Institutes of Health

Bethesda, MD, USA

Email:[email protected]

Antje Bornemann

Department of Pathology and Neuropathology

Division of Neuropathology

University of Tübingen

Tübingen, Germany

Email:[email protected]

Bernard Brais

Departments of Neurology and Neurosurgery and Human Genetics

Faculty of Medicine, McGill University

Montreal Neurological Institute

Montreal, Canada

Email:[email protected]

Susan C. Brown

Department of Comparative Biomedical Sciences

Royal Veterinary College

London, UK

Email:[email protected]

Amina Chaouch

Institute of Genetic Medicine

Newcastle University

Newcastle upon Tyne, UK

Email:[email protected]

Leila Chimelli

Federal University of Rio de Janeiro

Division of Pathology

National Cancer Institute

Rio de Janeiro, Brazil

Email:[email protected]

Kristl G. Claeys

Department of Neurology and Institute of Neuropathology

University Hospital RWTH Aachen

Aachen, Germany

Email:[email protected]

Christoph S. Clemen

Institute of Biochemistry I

Medical Faculty

University of Cologne

Cologne, Germany

Email:[email protected]

Marianne de Visser

Department of Neurology

Academic Medical Centre

University of Amsterdam

Amsterdam, The Netherlands

Email:[email protected]

Liesbeth De Waele

Department of Paediatric Neurology

University Hospitals Leuven

Leuven, Belgium

Email:[email protected]

Isidro Ferrer

Institute of Neuropathology

Department of Pathology and Neuromuscular Unit

IDIBELL-Hospital Universitari de Bellvitge

University of Barcelona

Hospitalet de Llobregat

Barcelona, Spain

Email:[email protected]

Kevin M. Flanigan

Center for Gene Therapy

Nationwide Children's Hospital

Ohio State University

Columbus, OH, USA

Email:[email protected]

A. Reghan Foley

Dubowitz Neuromuscular Centre

Institute of Child Health and Great Ormond Street Hospital

London, UK

Email:[email protected]

Romain K. Gherardi

Neuromuscular expert centre

Henri Mondor Hospital, Créteil;

Paris-Est University & INSERM U955 E10

F-94010 Créteil cedex, FRANCE

Email:[email protected]

Hans H. Goebel

Department of Neuropathology

Charité -Universitätsmedizin Berlin

Berlin, Germany;

Department of Neuropathology

Johannes Gutenberg University

Mainz, Germany

Email:[email protected]

Lev G. Goldfarb

National Institute of Neurological Disorders and Stroke

National Institutes of Health

Bethesda, MD, USA

Email:[email protected]

Michael G. Hanna

MRC Centre for Neuromuscular Diseases

UCL Institute of Neurology

London, UK

Email:[email protected]

Scott Q. Harper

Center for Gene Therapy

Nationwide Children's Hospital

The Ohio State University

Columbus, OH, USA

Email:[email protected]

Janice L. Holton

Department of Molecular Neuroscience

UCL Institute of Neurology

London, UK

Email:[email protected]

Saiju Jacob

Queen Elizabeth Neuroscience Centre

University Hospitals of Birmingham

Birmingham, UK

Email:[email protected]

Cecilia Jimenez-Mallebrera

Neuromuscular Unit

Department of Neuropaediatrics

Hospital Sant Joan de Déu

Barcelona, Spain

Email:[email protected]

Heinz Jungbluth

Department of Paediatric Neurology Neuromuscular Service

Evelina Children's Hospital

St Thomas’ Hospital;

Randall Division of Cell and Molecular Biophysics

Muscle Signalling Section

King's College London, UK

Email:[email protected]

Karin Jurkat-Rott

Division of Neurophysiology

University of Ulm

Ulm, Germany

Email:[email protected]

Hannu Kalimo

Department of Pathology

Haartman Institute, University of Helsinki Helsinki, Finland

Email:[email protected]

Nigel G. Laing

Centre for Medical Research

The University of Western Australia and

Western Australian Institute for Medical Research

Nedlands, WA;

Neurogenetic Unit

Department of Anatomical Pathology

Royal Perth Hospital

Perth, WA, Australia

Email:[email protected]

Martin Lammens

Department of Pathology

University of Antwerp

University Hospital Antwerp

Antwerp, Belgium

Email:[email protected]

Phillipa J. Lamont

Neurogenetic Unit

Department of Anatomical Pathology

Royal Perth Hospital

Perth, WA, Australia

Email:[email protected]

Jocelyn Laporte

Department of Translational Medicine and Neurogenetics

Institut de Génétique et de Biologie Moléculaire et Cellulaire

Université de Strasbourg

Strasbourg, France

Email:[email protected]

Michael W. Lawlor

Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine

Medical College of Wisconsin

Milwaukee, WI, USA

Email:[email protected]

Frank Lehmann-Horn

Division of Neurophysiology

University of Ulm

Ulm, Germany

Email:[email protected]

Wen-Chen Liang

Department of Neuromuscular Research

National Institute of Neuroscience

National Center of Neurology and Psychiatry

Tokyo, Japan;

Department of Pediatrics

Kaohsiung Medical University Hospital

Kaohsiung, Taiwan

Email:[email protected]

Hanns Lochmüller

Institute of Genetic Medicine

Newcastle University

Newcastle upon Tyne, UK

Email:[email protected]

May Christine V. Malicdan

Department of Neuromuscular Research

National Institute of Neuroscience

National Center of Neurology and Psychiatry

Tokyo, Japan;

Medical Genetics Branch, National Human Genome Research Institute

National Institutes of Health

Bethesda MD, USA

Email:[email protected]

Steven A. Moore

Department of Pathology

The University of Iowa

Iowa City, IA, USA

Email:[email protected]

Ichizo Nishino

Department of Neuromuscular Research

National Institute of Neuroscience

National Center of Neurology and Psychiatry

Tokyo, Japan

Email:[email protected]

Kristen J. Nowak

Centre for Medical Research

The University of Western Australia and

Western Australian Institute for Medical Research

Nedlands, WA, Australia

Email:[email protected]

Anders Oldfors

Department of Pathology

Sahlgrenska University Hospital

Gothenburg, Sweden

Email:[email protected]

Montse Olivé

Institute of Neuropathology

Department of Pathology and Neuromuscular Unit

IDIBELL-Hospital Universitari de Bellvitge

University of Barcelona

Hospitalet de Llobregat

Barcelona, Spain

Email:[email protected]

Norma Beatriz Romero

Morphology Neuromuscular Unit of the Myology Institute

University UPMC – Paris

GHU Pitié-Salpêtrière

Paris, France

Email:[email protected]

Elisabeth J. Rushing

UniversitätsSpital Zürich

Institut für Neuropathologie

Zürich, Switzerland

Email:[email protected]

Joachim Schessl

Friedrich-Baur Institute

Department of Neurology

Ludwig-Maximilians University of Munich

Munich, Germany

Email:[email protected]

Benedikt Schoser

Friedrich-Baur Institute

Department of Neurology

Ludwig-Maximilians University Munich

Munich, Germany

Email:[email protected]

Rolf Schröder

Institute of Neuropathology

University Hospital Erlangen

Erlangen, Germany

Email:[email protected]

Caroline A. Sewry

Dubowitz Neuromuscular Centre

Institute of Child Health and Great Ormond Street Hospital

London, UK;

Wolfson Centre for Inherited Neuromuscular Diseases

RJAH Orthopaedic Hospital

Oswestry, UK

Email:[email protected]

Mehar C. Sharma

Department of Pathology

All India Institute of Medical Sciences

New Delhi, India

Email:[email protected]

Werner Stenzel

Department of Neuropathology

Charité-Universitätsmedizin Berlin

Berlin, Germany

Email:[email protected]

Volker Straub

Institute of Genetic Medicine

Newcastle University

Newcastle upon Tyne, UK

Email:[email protected]

Ana Lia Taratuto

Department of Neuropathology

Institute for Neurological Research, FLENI

Buenos Aires, Argentina

Email:[email protected]

Bjarne Udd

Neuromuscular Research Center

Department of Neurology

Tampere University and University Hospital

Tampere;

Folkhälsan Institute of Genetics

Department of Medical Genetics

University of Helsinki

Helsinki, Finland

Email:[email protected]

Angela Vincent

Nuffield Department of Clinical Neurosciences

John Radcliffe Hospital

Oxford, UK

Email:[email protected]

John Vissing

Neuromuscular Research Unit

Department of Neurology

Rigshospitalet, University of Copenhagen

Copenhagen, Denmark

Email:[email protected]

Hannes Vogel

Department of Pathology

Stanford University School of Medicine

Palo Alto, CA, USA

Email:[email protected]

Carina Wallgren-Pettersson

Department of Medical Genetics

Haartman Institute

University of Helsinki and

The Folkhälsan Institute of Genetics

Helsinki, Finland

Email:[email protected]

Lucy R. Wedderburn

Rheumatology Unit

UCL Institute of Child Health

London, UK

Email:[email protected]

Joachim Weis

Institute of Neuropathology

University Hospital RWTH Aachen

Aachen, Germany

Email:[email protected]

Roy O. Weller

Clinical Neurosciences

University of Southampton School of Medicine

Southampton General Hospital

Southampton, UK

Email:[email protected]

Gerhard Wiche

Department of Biochemistry and Cell Biology

Max F. Perutz Laboratories

University of Vienna

Vienna, Austria

Email:[email protected]

Lilli Winter

Department of Biochemistry and Cell Biology

Max F. Perutz Laboratories

University of Vienna

Vienna, Austria

Email:[email protected]

Kyle S. Yau

Centre for Medical Research

The University of Western Australia and

Western Australian Institute for Medical Research

Nedlands, WA, Australia

Email:[email protected]

Preface

The International Society of Neuropathology (ISN) has a major role in promoting education and improving standards of diagnosis and research in diseases of the nervous system. In this activity, the ISN works closely with clinicians, geneticists, basic neuroscientists, biochemists, and immunologists to maintain a broad spectrum of knowledge for the care and treatment of patients with neurological disease. In order to fulfill this objective, the ISN sponsors the research journal Brain Pathology, and a series of books devoted to maintaining and improving the standard of neuropathology worldwide.

The initial series of ISN neuropathology books was initiated by Paul Kleihues and published between 2001 and 2005 under the general editorship of Ynvge Olsson. The books comprised Developmental Neuropathology edited by Geoffrey A. Golden and Brian Harding (2004), and Pathology and Genetics of Cerebrovascular Diseases edited by Hannu Kalimo (2005) and were preceded by the first edition of Structural and Molecular Basis of Skeletal Muscle Diseases, edited by George Karpati (2002) and the first edition of Neurodegeneration: the Molecular Pathology of Dementia and Movement Disorders, edited by Dennis Dickson (2003). In parallel with the ISN books has been the publication of a series entitled WHO Classification of Tumours of the Central Nervous System published by WHO Press. The fourth edition of the brain tumor book, edited by David N. Louis, Hiroko Ohgaki, Otmar D. Wiestler and Webster K. Cavenee, was published in 2007.

With the present series editor, the second edition of Neurodegeneration: the Molecular Pathology of Dementia and Movement Disorders was published in 2011 with Dennis W. Dickson and Roy O. Weller as editors; the book was subsequently translated into Spanish as Neurodegeneración: Patología molecular de la demencia y los trastornos del movimiento and published by Editorial Médica Panamericana, S.A.

The publication of the second edition of the book on muscle disease, the present volume, entitled Muscle Disease: Pathology and Genetics, is in response to the very rapid and significant advances in the field of muscle disease that have occurred over the last decade. For this volume, edited by Hans H. Goebel, Caroline A. Sewry and Roy O. Weller, a team of authors was appointed from an international field of experts after consultation with the Advisory Editors. One of the major challenges has been to assemble a coherent text that reflects the mood of this rapidly changing field of medical science. The main objective of the book is to offer the reader a modern view of the pathology and genetics of muscle disease that will integrate the requirements of clinicians, pathologists, geneticists, and other neuroscientists involved in the investigation, diagnosis, research, management, and treatment of muscle disorders.

Although the clinical classification of muscle disease is extremely valuable in diagnosis and management, such a classification does not allow the adequate expression of modern concepts in the pathology and genetics of muscle disorders. For this reason, the present book has been organized in such a way that the whole spectrum of muscle disease from neurogenic and inflammatory disorders to diseases based upon mutations in a single gene can be covered in a logical sequence. The structure of the present book is based upon the motor unit; the inherited disorders in particular are related to the ultrastructure of the muscle fiber, its organelles, and associated connective tissue elements.

Following an introductory chapter, the first section of the book is devoted to general introductions to the clinical, pathological, and genetic aspects of muscle disease. Subsequent sections detail the pathology and genetics of neurogenic muscle disease and disorders of neuromuscular transmission. Then follows a series of sections based upon the subcellular structures and organelles in the muscle fiber, for example, disorders of the sarcolemma focusing on muscular dystrophies and related diseases; disorders of nuclei, myofibrils, intermediate filaments, and mitochondria. Subsequent sections cover diseases of sarcoplasmic reticulum and T-tubules, cytoplasmic proteins, metabolic and storage disorders and muscle diseases associated with DNA expansions and facioscapulohumeral dystrophy. All-important sections on inflammatory myopathies, toxic myopathies, muscle diseases associated with age, systemic disorders and rare structural abnormalities are grouped together at the end of the book. For ease of navigation through the complex variety of muscle diseases, individual chapters have been organized in a standard format that allows the reader to easily locate information on individual disease entities in different chapters. Each chapter covers the clinical, pathological, and genetic aspects of each disorder and includes data on experimental muscle disease and, where possible, a vision of future developments and treatment of each disorder.

I would like to thank Professors Hans Goebel and Caroline Sewry for their inspiration in the planning and their efforts in the preparation of the book; their breadth of knowledge and contacts within the field of muscle disease has been outstanding. I would also like to thank the Advisory Editors for their counsel and, wholeheartedly, the authors of individual chapters for the high quality of their contributions. Dr Herbert Budka, as president of ISN, Dr Seth Love as past General Secretary of ISN and Dr David Hilton as the present General Secretary have all been sources of valuable advice and inspiration. The book would not have been possible without the skill and commitment of the staff of the publishers, Wiley-Blackwell, especially Martin Sugden, Jennifer Seward, Rob Blundell and Helen Harvey, whom I sincerely thank.

Finally, who is most likely to benefit from reading and consulting this book? With its integrated approach, the book will be a valuable asset to clinicians, pathologists, geneticists, and neuroscientists involved in the investigation, diagnosis, research, treatment, and management of muscle disease.

Roy O. Weller

Series Editor

List of Abbreviations

AASanabolic-androgenic steroidAAVadeno-associated virusABDactin-binding domainAChEacetylcholinesteraseAChRacetylcholine receptorACTHadrenocorticotropic hormoneADautosomal dominantADCNMautosomal dominant centronuclear myopathyADEDMDautosomal dominant Emery–Dreifuss muscular dystrophyADPadenosine diphosphateAIREautoimmune regulatorALSamyotrophic lateral sclerosisAMCarthrogryposis multiplex congenitaAMPadenosine monophosphateANCAantineutrophil cytoplasmic antibodyARautosomal recessiveARCNMautosomal recessive centronuclear myopathyAREDMDautosomal recessive Emery–Dreifuss muscular dystrophyATGLadipose triglyceride lipaseATPadenosine triphosphateATRAall-trans-retinoic acidAVMautophagic vacuolar myopathiesAVSFautophagic vacuoles with sarcolemmal featuresAZTazidothymidineBMBethlem myopathyBMDBecker muscular dystrophybpbase pairsCADASILcerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyCADMclinically amyopathic dermatomyositisCCDcardiac conduction defect, central core diseaseCDSChanarin–Dorfman syndromeCFTDcongenital fiber type disproportionCGHcomparative genomic hybridizationCGLcongenital generalized lipodystrophyCIMcritical illness myopathyCIPNMcritical illness polyneuromyopathyCKcreatine kinaseCMAPcompound muscle action potentialCMDcongenital muscular dystrophyCMScongenital myasthenic syndromeCMTCharcot–Marie–Tooth diseaseCNMcentronuclear myopathyCNScentral nervous systemCNTFciliary neurotropic factorCNVcopy number variationCOXcytochrome c oxidaseCPEOchronic progressive external ophthalmoplegiaCPTcarnitine palmitoyltransferaseCPT2carnitine palmitoyltransferase IICRMcore-rod myopathyCScylindrical spiralsCSFcerebrospinal fluidCTcomputed tomographyCTDconnective tissue diseasesDAdistal arthrogryposisDGdystroglycanDGCdystrophin glycoprotein complexDMmyotonic dystrophy/distal myopathy/dermatomyositisDMATdistal myopathy with anterior tibial onsetDMDDuchenne muscular dystrophyDMRVdistal myopathy with rimmed vacuolesDTIdiffusion tension imagingDYSdystrophinEACAepsilon aminocaproic acidEBS-MDepidermolysis bullosa simplex with muscular dystrophyEBS-PAepidermolysis bullosa simplex with pyloric atresiaE-Cexcitation-contractionECGelectrocardiogramECMextracellular matrixEDMDEmery–Dreifuss muscular dystrophyEDSEhlers–Danlos syndromeELISAenzyme-linked immunosorbent assayEMelectron microscopyEMGelectromyographyEOMGearly-onset myasthenia gravisEPPendplate potentialERendoplasmic reticulumERADendoplasmic reticulum-associated degradationESembryonic stemETFelectron transfer flavoproteinETFDHelectron transfer flavoprotein dehydrogenaseFADSfetal akinesia deformation sequenceFCMDFukuyama muscular dystrophyFSHDfacioscapulohumeral dystrophyFTDfrontotemporal dementiaFTLDfrontotemporal lobar degenerationGBSGuillain–Barré syndromeGGTγ-glutamyltransferaseGHgrowth hormoneGNEUDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinaseGSDglycogen storage diseaseHCKhyperCKemiaHCMhypertrophic cardiomyopathyH&Ehematoxylin and eosinHIBMhereditary inclusion body myopathyHIVhuman immunodeficiency virusHLAhuman leukocyte antigenHMERFhereditary myopathy with early-onset respiratory failureHMGCR3-hydroxy-3-methylglutaryl-coenzyme A reductaseHMSNhereditary motor and sensory neuropathyHTLVhuman T lymphotropic virusHyperPPhyperkalemic periodic paralysisHypoPPhypokalemic periodic paralysisIBMinclusion body myositisIBMPFDinclusion body myopathy with Paget disease of bone and frontotemporal dementiaICDimplantable cardioverter defibrillatorIFintermediate filamentIFNinterferonIgimmunoglobulinIGFinsulin-like growth factorIIMidiopathic inflammatory myopathyILinterleukinILDinterstitial lung diseaseIMNMimmune-mediated necrotizing myopathyINIintranuclear inclusionISNInternational Society of NeuropathologyIVCTin vitro contracture testJDMjuvenile dermatomyositiskbkilobaseKSSKearns–Sayre syndromeLAMPlysosome-associated membrane proteinLCHADlong-chain 3-hydroxyacyl-CoA dehydrogenaseL-CMDLMNA-related congenital muscular dystrophyLDHlactate dehydrogenaseLEMSLambert–Eaton myasthenic syndromeLGMDlimb-girdle muscular dystrophyLHONLeber hereditary optic neuropathyLPLlipoprotein lipaseLQTSlong QT syndromeLSMlipid storage myopathyMAAmyositis-associated antibodyMACmembrane attack complexMADmyoadenylate deaminaseMADDmyoadenylate deaminase deficiency/multiple acyl-coenzyme A dehydrogenase deficiencyMB-DRMdesmin-related myopathy with Mallory body-like inclusionsMCmyotonia congenitaMCTmedium-chain triglycerideMCTDmixed connective tissue diseaseMDmuscular dystrophyMDC1Cmuscular dystrophy – congenital type 1CMEBmuscle–eye–brain diseaseMELASmitochondrial myopathy, encephalopathy, lactic acidosis, and strokeMEPPminiature endplate potentialMFMmyofibrillar myopathyMGmyasthenia gravisMHCmajor histocompatibility complexMHCdmyosin heavy chain, developmentalMHSmalignant hyperthermia susceptibilityMLPAmultiplex ligation probe amplificationMMMiyoshi myopathyMmDmulti-minicore diseaseMMFmacrophagic myofasciitisMNDmotor neuron diseaseMRFmuscle regulatory factorMRImagnetic resonance imagingMSAmyositis-specific antibodyMSSMarinesco–Sjögren syndromeMTPmitochondrial trifunctional proteinMuRF1muscle RING-finger 1MuSKmuscle-specific kinaseMyHCmyosin heavy chainNADH-TRreduced nicotinamide adenosine dinucleotide tetrazolium reductaseNARPneuropathy, ataxia, and retinitis pigmentosaNBTnitroblue tetrazoliumNCAMneural cell adhesion moleculeNGSnext-generation sequencingNLSDneutral lipid storage diseaseNMnemaline myopathyNMJneuromuscular junctionnNOSneuronal nitric oxide synthaseOMoverlap myositisOMIMOnline Mendelian Inheritance in ManOPMDoculopharyngeal muscular dystrophyORFopen reading frameOROoil red OOXPHOSoxidative phosphorylationPAMpotassium-aggravated myotoniaPASperiodic acid–SchiffPCparamyotonia congenitaPCDprimary carnitine deficiencyPCRpolymerase chain reactionPDBPaget disease of bonePEOprogressive external ophthalmoplegiaPFKphosphofructokinasePFKDphosphofructokinase deficiencyPGAMphosphoglycerate mutasePGKphosphoglyceratePGMphosphoglucomutasePHKphosphorylase b kinasePMpolymyositisPPARperoxisome proliferator-activated receptorPRDplectin repeat domainPTRFpolymerase I and transcript release factorRArheumatoid arthritisRBMreducing body myopathyRFrheumatoid factorRFLPrestriction fragment length polymorphismRMDrippling muscle diseaseRNSrepeat nerve stimulationROSreactive oxygen speciesRRFragged red fiberRSMDrigid spine muscular dystrophyRSSrigid spine syndromeSCARMDsevere childhood autosomal recessive muscular dystrophySDHsuccinate dehydrogenaseSEPN1-RMSEPN1-related myopathySERCAsarcoplasmic endoplasmic reticulum ATPaseSFEMGsingle-fiber electromyographySGsarcoglycansIBMsporadic inclusion body myositisSIDSsudden infant death syndromeSLEsystemic lupus erythematosusSMAspinal muscular atrophySMARD1spinal muscular atrophy with early respiratory insufficiencySNPsingle nucleotide polymorphismSRsarcoplasmic reticulumSRPsignal recognition particleSSSjögren syndromeSScsystemic sclerosisSTIRshort tau inversion recoverySTMsarcotubular myopathyTCterminal cisternaeTGtriglycerideTGFtransforming growth factorTMDtibial muscular dystrophyTNFtumor necrosis factorTSPthrombospondinTTStransverse tubular systemTTXtetrodotoxin toxinUCMDUllrich congenital muscular dystrophyUPSubiquitin-proteasome systemUSultrasonographyUTRuntranslated regionVCPvalosin-containing proteinVCPDMvocal cord and pharyngeal weakness and distal myopathyVLCADvery long-chain acylcoenzyme A dehydrogenaseWBWestern blottingXMEAX-linked myopathy with excessive autophagy

1

Introduction to Muscle Disease: Pathology and Genetics