Peripheral Nerve Disorders Pathology and Genetics

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 understanding of the disease processes underlying patients’ presentations and to formulate appropriate management plans.

Peripheral Nerve Disorders: Pathology and Genetics is a valuable resource for neurologists, neuropathologists, pathologists, neurobiologists and geneticists.

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, Germany

Contributor list vii

Foreword x

Preface xi

Abbreviations xiii

1 Clinical assessment and classification of peripheral nerve diseases 1
Pierre Bouche

2 Combined muscle and nerve biopsy 12
Anne Vital

3 Cutaneous nerve biopsy 15
Claudia Sommer and Maria Nolano

4 Methods for examination of peripheral nerve 24
Juan M. Bilbao Douglas C. Anthony and Umberto De Girolami

5 Complications from nerve biopsy 30
Richard A.C. Hughes

6 Anatomy of the peripheral nerve 32
Rosalind King

7 Basic pathology of the peripheral nervous system 38
J. Michael Schröder and Joachim Weis

8 Introduction to the hereditary neuropathies 59
Joachim Weis and Jan Senderek

9 Autosomal dominant demyelinating Charcot–Marie–Tooth (CMT1) neuropathies 62
Jean-Michel Vallat and Stéphane Mathis

10 Autosomal dominant neuropathy of the axonal Charcot–Marie–Tooth type 2 72
J. Michael Schröder Joachim Weis and Jan Senderek

11 Autosomal recessive demyelinating or axonal Charcot–Marie–Tooth neuropathy 85
Kristl G. Claeys Martin Lammens Jan Senderek and Joachim Weis

12 Dominant and recessive intermediate CMT (CMTDI and CMTRI) 102
Joachim Weis Andreas Roos Istvan Katona Kristl G. Claeys and Jan Senderek

13 X-linked neuropathy of the Charcot–Marie–Tooth type 111
J. Michael Schröder and Jan Senderek

14 Hereditary sensory and autonomic neuropathy 119
Rosalind King

15 Hereditary neuropathy with liability to pressure palsy 126
Benjamin Ellezam

16 Familial amyloid polyneuropathy 131
Manuel Melo Pires Ricardo Taipa and António Guimarães

17 Peripheral neuropathies in mitochondrial disorders 138
Benoît Funalot

18 Giant axonal neuropathy 142
Robert Ouvrier and Manoj Menezes

19 Neuroaxonal dystrophy 146
Robert Ouvrier and Manoj Menezes

20 Peripheral nerve involvement in neurolipidoses 149
Robert Ouvrier and Manoj Menezes

21 Other hereditary neuropathies 158
Stéphane Mathis Meriem Tazir and Jean-Michel Vallat

22 Adult polyglucosan body disease 167
Alexander Lossos Or Kakhlon and Dov Soffer

23 Polyneuropathies associated with neurofibromatosis 172
Joachim Weis

24 Vasculitides 175
Michael P. Collins and P. James B. Dyck

25 Infectious and tropical neuropathies 196
Leila Chimelli and Jean-Michel Vallat

26 Sarcoid neuropathy 210
Anne Vital

27 Guillain–Barré syndromes and chronic inflammatory demyelinating polyradiculoneuropathy 214
Laurent Magy

28 Diabetic neuropathies 224
Robert E. Schmidt

29 Neuropathies in metabolic diseases other than diabetes mellitus 233
Martin Lammens

30 Toxic neuropathies 238
Sebastian Brandner

31 Polyneuropathy associated with a monoclonal gammopathy 247
Yuichi Kawagashira Haruki Koike Jean-Michel Vallat and Gen Sobue

32 Paraneoplastic peripheral neuropathies 259
Jean-Christophe Antoine

33 Neuropathies in malnutrition and alcoholism 267
Martin Lammens

34 Critical illness polyneuropathy 273
Douglas C. Anthony and David Lacomis

35 Non-vasculitic ischemic neuropathies 276
Robert E. Schmidt

36 Traumatic and compressive lesions of peripheral nerves 280
Carlos Ortiz-Hidalgo and Roy O. Weller

37 Localized hypertrophic neuropathy intraneural perineurioma polyneuropathy with perineurial cell hyperplasia and minifascicular neuropathy 287
Joachim Weis

38 Neurolymphomatosis and rare focal or multifocal lesions 291
Joachim Weis

Index 294

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