Peripheral Nerve Disorders: Pathology and Genetics

320 Pages·2014·46.851 MB·English

by  Jean-Michel Vallat, Joachim Weis

17mm 18.6mm 17mm
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Peripheral Nerve Disorders: Pathology and Genetics is a definitive,
clinically-oriented guide to the pathology of peripheral nerve disorders.
These commonly seen neurological challenges have many causes and
accurate diagnosis is often necessary via pathological analysis. New
techniques exploiting molecular biological knowledge have opened up
new vistas to understanding the pathogenesis of these disorders, and
hence, their effective management.
This new title takes a disease-oriented approach to understanding the
pathology of these conditions. It combines classical and contemporary
techniques to enable practitioners in neurology and neuropathology
to better understand the disease processes underlying patients’
presentations and to formulate appropriate management plans. Nuclear envelope
(LMNA)
Peripheral Nerve Disorders: Pathology and Genetics is a valuable
resource for neurologists, neuropathologists, pathologists,
neurobiologists and geneticists.
Phosphoinositide metabolism
(MTMR2, SBF2)
Heat shock Transcriptional regulation
proteins (HSPB1, (EGR2, SOX10, SETX)
HSPB8, HSJ1)
Jean-Michel Vallat, Neurology Laboratory, National Referral Center Myelin proteins
PMP22, MPZ, Cx32)
for Rare Peripheral Neuropathies, University Hospital, Limoges, France
Intracellular transport,
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Sphingolipid endosomes
ad biosynthesis (SH3TC2, RAB7)
Joachim Weis, Director, Institute of Neuropathology, RWTH Aachen llaite (SPTLC1, 2)
University Hospital, JARA Brain Translational Medicine, Aachen, Germany t d Amino acid processing
a (GARS, YARS)
b
ny Cytoskeleton
d (NEFL, Gigaxonin)

W
e Axonal transport
is (DCTN1, DYNC1H1) Mdyitnoacmhiocnsdrial Interaction with
(GDAP1, MFN2) extra-cellular matrix
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Peripheral nerve disorders: pathology and genetics
0002134681.INDD 1 7/21/2014 3:15:40 PM
0002134681.INDD 2 7/21/2014 3:15:40 PM
Peripheral nerve
disorders: pathology
and genetics
EditEd by
Jean-Michel Vallat
Neurology Laboratory
National Referral Center for Rare Peripheral Neuropathies
University Hospital
Limoges
France
Joachim Weis
director, institute of Neuropathology
RWtH Aachen University Hospital
JARA brain translational Medicine
Aachen
Germany
SERiES EditoRS
Francoise Gray
department of Pathology
Lariboisière Hospital (AP-HP)
University denis diderot-Paris 7
France
Katy Keohane
Consultant Neuropathologist
Cork University Hospital
ireland
FoREWoRd by
Peter J. Dyck
department of Neurology, Mayo Clinic
Rochester, Minnesota
USA
0002134681.INDD 3 7/21/2014 3:15:41 PM
this edition first published 2014; © 2014 by international Society of Neuropathology
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Library of Congress Cataloging-in-Publication Data
Peripheral nerve disorders (Vallat)
Peripheral nerve disorders : pathology and genetics / edited by Jean-Michel Vallat, Joachim Weis.
p. ; cm.
includes bibliographical references and index.
iSbN 978-1-118-61843-1 (cloth)
i. Vallat, Jean-Michel, editor. ii. Weis, Joachim, 1960– editor. iii. international Society of
Neuropathology, issuing body. iV. title.
[dNLM: 1. Peripheral Nervous System diseases–physiopathology. 2. Peripheral Nervous System
diseases–genetics. WL 520]
RC409
616.85′6–dc23
2014013299
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.
hardback: 978-111-86184-3-1
ePdF: 978-111-86184-0-0 obook: 978-111-86184-2-4
epub: 978-111-86184-1-7 mobi: 978-111-86183-9-4
Set in 8.5/12pts Meridien by SPi Publisher Services, Pondicherry, India
1 2014
0002134681.INDD 4 7/21/2014 3:15:41 PM
Contents
Contributor list, vii 12 Dominant and recessive intermediate
CMT (CMTDI and CMTRI), 102
Foreword, x
Joachim Weis, Andreas Roos, Istvan Katona,
Preface, xi
Kristl G. Claeys, and Jan Senderek
Abbreviations, xiii
13 X-linked neuropathy of the
1 Clinical assessment and classification Charcot–Marie–Tooth type, 111
of peripheral nerve diseases, 1 J. Michael Schröder and Jan Senderek
Pierre Bouche 14 Hereditary sensory and autonomic
2 Combined muscle and nerve biopsy, 12 neuropathy, 119
Anne Vital Rosalind King
3 Cutaneous nerve biopsy, 15 15 Hereditary neuropathy with liability
to pressure palsy, 126
Claudia Sommer and Maria Nolano
Benjamin Ellezam
4 Methods for examination of peripheral nerve, 24
Juan M. Bilbao, Douglas C. Anthony, and 16 Familial amyloid polyneuropathy, 131
Manuel Melo Pires, Ricardo Taipa, and
Umberto De Girolami
António Guimarães
5 Complications from nerve biopsy, 30
Richard A.C. Hughes 17 Peripheral neuropathies in
mitochondrial disorders, 138
6 Anatomy of the peripheral nerve, 32
Benoît Funalot
Rosalind King
18 Giant axonal neuropathy, 142
7 Basic pathology of the peripheral
Robert Ouvrier and Manoj Menezes
nervous system, 38
J. Michael Schröder and Joachim Weis 19 Neuroaxonal dystrophy, 146
Robert Ouvrier and Manoj Menezes
8 Introduction to the hereditary neuropathies, 59
Joachim Weis and Jan Senderek 20 Peripheral nerve involvement in
neurolipidoses, 149
9 Autosomal dominant demyelinating
Robert Ouvrier and Manoj Menezes
Charcot–Marie–Tooth (CMT1)
neuropathies, 62 21 Other hereditary neuropathies, 158
Stéphane Mathis, Meriem Tazir, and
Jean-Michel Vallat and Stéphane Mathis
Jean-Michel Vallat
10 Autosomal dominant neuropathy of the axonal
Charcot–Marie–Tooth type 2, 72 22 Adult polyglucosan body disease, 167
Alexander Lossos, Or Kakhlon,
J. Michael Schröder, Joachim Weis, and Jan Senderek
and Dov Soffer
11 Autosomal recessive demyelinating or axonal
Charcot–Marie–Tooth neuropathy, 85 23 Polyneuropathies associated with
neurofibromatosis, 172
Kristl G. Claeys, Martin Lammens,
Joachim Weis
Jan Senderek, and Joachim Weis
v
vi Contents
24 Vasculitides, 175 32 Paraneoplastic peripheral neuropathies, 259
Michael P. Collins and P. James B. Dyck Jean-Christophe Antoine
25 Infectious and tropical neuropathies, 196 33 Neuropathies in malnutrition and
Leila Chimelli and Jean-Michel Vallat alcoholism, 267
Martin Lammens
26 Sarcoid neuropathy, 210
Anne Vital 34 Critical illness polyneuropathy, 273
Douglas C. Anthony and David Lacomis
27 Guillain–Barré syndromes and chronic
inflammatory demyelinating 35 Non-vasculitic ischemic neuropathies, 276
Robert E. Schmidt
polyradiculoneuropathy, 214
Laurent Magy 36 Traumatic and compressive lesions
of peripheral nerves, 280
28 Diabetic neuropathies, 224
Carlos Ortiz-Hidalgo and Roy O. Weller
Robert E. Schmidt
37 Localized hypertrophic neuropathy,
29 Neuropathies in metabolic diseases
intraneural perineurioma,
other than diabetes mellitus, 233
polyneuropathy with perineurial
Martin Lammens
cell hyperplasia, and minifascicular
30 Toxic neuropathies, 238 neuropathy, 287
Sebastian Brandner Joachim Weis
31 Polyneuropathy associated with a 38 Neurolymphomatosis and rare focal
monoclonal gammopathy, 247 or multifocal lesions, 291
Yuichi Kawagashira, Haruki Koike, Joachim Weis
Jean-Michel Vallat, and Gen Sobue
Index, 294
Contributor list
Douglas C. Anthony Michael P. Collins MD
Professor of Pathology and Laboratory Medicine Associate Professor of Neurology
Department of Pathology and Laboratory Medicine Department of Neurology
Alpert Medical School of Brown University Medical College of Wisconsin
Pathologist-in-chief, Lifespan Academic Medical Center Wisconsin, USA
Rhode Island, USA
Umberto De Girolami MD
Jean-Christophe Antoine MD Professor of Pathology
Service de Neurologie, Hôpital Nord Department of Pathology
CHU de Saint-Etienne Harvard Medical School and
France Neuropathologist, Brigham and Women’s Hospital
Boston, USA
Juan M. Bilbao MD, FRCP
Professor (Emeritus) of Laboratory Medicine P. James B. Dyck MD
Department of Laboratory Medicine Professor of Neurology
University of Toronto Department of Neurology
Ontario, Canada Mayo Clinic
Rochester, USA
Pierre Bouche MD
Department of Clinical Neurophysiology Benjamin Ellezam MD, PhD
APHP, Groupe Hospitalier Pitié-Salpêtrière Assistant Clinical Professor
Paris, France Department of Pathology and Cell Biology
Université de Montréal
Sebastian Brandner MD, FRCPath CHU Sainte-Justine
Professor of Neuropathology Montreal, Canada
Division of Neuropathology and Department of
Neurodegenerative Disease Benoît Funalot MD, PhD
National Hospital for Neurology and Neurosurgery Departments of Biochemistry, Genetics,
and UCL Institute of Neurology and Neurology
London, UK National Referral Center for Rare Peripheral
Neuropathies, CHU Limoges and EA6309
Leila Chimelli MD “Myelin Maintenance and Peripheral
Professor of Neuropathology Neuropathies”
Department of Pathology, University Hospital Limoges University Medicine School
Federal University of Rio de Janeiro Limoges, France
Rio de Janeiro, Brazil
António Guimarães, MD
Kristl G. Claeys MD, PhD Department of Neuropathology
Institute of Neuropathology and Department of Neurology Hospital de Santo António, Centro Hospitalar do Porto
RWTH Aachen University Hospital and JARA Brain Instituto de Ciências Biomédicas Abel Salazar
Translational Medicine Universidade do Porto
Aachen, Germany Porto, Portugal
vii
viii Contributor list
Richard A.C. Hughes MD, FRCP, FMedSci Laurent Magy MD, PhD
Emeritus Professor of Neurology Neurology Laboratory
Department of Neurology National Referral Center for Rare
King’s College London and Cochrane Neuromuscular Peripheral Neuropathies
Disease Group University Hospital
MRC Centre for Neuromuscular Disease Limoges
National Hospital for Neurology and Neurosurgery France
London, UK
Stéphane Mathis
Or Kakhlon PhD Neurologist, Department of Neurology
Department of Neurology La Milétrie University Hospital
Hadassah-Hebrew University Medical Centre Poitiers, France
Jerusalem, Israel
Manoj Menezes FRACP
Istvan Katona Department of Neurology
Institute of Neuropathology The Children’s Hospital at Westmead
RWTH Aachen University Hospital and Sydney, Australia
JARA Brain Translational Medicine
Aachen, Germany Maria Nolano MD, PhD
Department of Neurology
Yuichi Kawagashira MD, PhD “Salvatore Maugeri” Foundation
Department of Neurology Telese, Italy
Nagoya University Graduate School of Medicine
Nagoya, Japan
Carlos Ortiz-Hidalgo MD
Professor of Histology
Rosalind King Department of Tissue and Cell Biology
Honorary Principal Research Fellow Universidad Panamericana
Department of Clinical Neurosciences, Institute of Neurology Chairman, Department of Surgical and Molecular
University College London Pathology
London, UK The American British Cowdray (ABC) Medical Centre
Mexico
Haruki Koike MD, PhD
Lecturer, Department of Neurology Robert Ouvrier MD, FRACP
Nagoya University Graduate School of Medicine Emeritus Professor, The University of Sydney
Nagoya, Japan Department of Neurology
The Children’s Hospital at Westmead
David Lacomis MD Sydney, Australia
Professor, Department of Neurology and Pathology
University of Pittsburgh School of Medicine Manuel Melo Pires MD, PhD
Pittsburgh, USA Department of Neuropathology
Hospital de Santo António, Centro
Martin Lammens MD, PhD Hospitalar do Porto
Head, Department of Pathology Instituto de Ciências Biomédicas Abel Salazar
Antwerp University Hospital Universidade do Porto
Edegem, and University of Antwerp Porto, Portugal
Antwerp, Belgium
Andreas Roos
Alexander Lossos MD Institute of Neuropathology
Department of Neurology RWTH Aachen University Hospital and
Hadassah-Hebrew University Medical Centre JARA Brain Translational Medicine
Jerusalem, Israel Aachen, Germany