Charcot-Marie-Tooth Disorders

, by Shy, Michael E.; Kamholz, John; Lovelace, Robert E.

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ISBN: 9781573311830 | 1573311839
Cover: Paperback
Copyright: 8/1/1999

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Supplemental Materials

Introduction to the Third International Symposium on Charcot-Marie-Tooth Disorders

xiii

Michael E. Shy

John Kamholz

Robert E. Lovelace

Part I. Clinical and Pathological Review of What Constitutes CMT

Overview of Charcot-Marie-Tooth Disease Type 1A

(5)

P. K. Thomas

Historical Perspective of Defining Charcot-Marie-Tooth Type 1B

(8)

Thomas D. Bird

Overview of Hereditary Neuropathy with Liability to Pressure Palsies

(8)

Phillip F. Chance

Molecular Mechanisms for CMT1A Duplication and HNPP Deletion

(14)

C. F. Boerkoel

K. Inoue

L. T. Reiter

L. E. Warner

J. R. Lupski

X-Linked Charcot-Marie-Tooth Disease and Connexin32

(6)

Kenneth H. Fischbeck

Annette Abel

Grace S. Lin

Steven S. Scherer

Charcot-Marie-Tooth Disease Type 2

(5)

Jeffery M. Vance

Autosomal Recessive Hereditary Motor and Sensory Neuropathy with Focally Folded Myelin Sheaths (CMT4B)

(9)

Antonio Gambardella

Francesco Bono

Mariella Muglia

Paola Valentino

Aldo Quattrone

The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33

(4)

A. Guilbot

M. Kessali

N. Ravise

T. Hammadouche

A. Bouhouche

T. Maisanobe

D. Grid

A. Brice

E. LeGuern

Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics

(5)

V. Timmerman

J. Beuten

J. Irobi

P. De Jonghe

J.-J. Martin

C. Van Broeckhoven

Distal Hereditary Motor Neuronopathy of the Jerash Type

(4)

L. T. Middleton

K. Christodoulou

A. Mubaidin

E. Zamba

M. Tsingis

K. Kyriacou

S. Abu-Sheikh

T. Kyriakides

V. Neocleous

D. M. Georgiou

M. El-Khateeb

A. Al-Qudah

K. Horany

A Clinical Review of Charcot-Marie-Tooth

(8)

Carlos A. Garcia

Schwann Cell--Axon Interactions in Charcot-Marie-Tooth Disease

(14)

John W. Griffin

Kazim Sheikh

Part II. Pathogenesis of Demyelination in CMT

Session A. Schwann Cell-Axonal Interactions and the Program of PNS Myelination

Regulation of Myelin-Specific Gene Expression: Relevance to CMT1

(18)

John Kamholz

Raj Awatrani

Daniela Menichella

Huiyuan Jiang

Wenbo Xu

Michael Shy

Why Do Schwann Cells Survive in the Absence of Axons?

109

(7)

K. R. Jessen

R. Mirsky

P0-Cre Transgenic Mice for Inactivation of Adhesion Molecules in Schwann Cells

116

(8)

Maria Laura Feltri

Maurizio D'Antonio

Stefano Previtali

Marina Fasolini

Albee Messing

Lawrence Wrabetz

IGF-I Promotes Peripheral Nervous System Myelination

124

(7)

Hsin-Lin Cheng

James W. Russell

Eva L. Feldman

Nodes, Paranodes, and Incisures: From Form to Function

131

(12)

Steven S. Scherer

Session B. Molecules Involved in the Pathogenesis of CMT1

The Anatomy and Cell Biology of Peripheral Myelin Protein-22

143

(9)

G. Jackson Snipes

Wayel Orfali

Andrew Fraser

Kathleen Dickson

Joshua Colby

New Vistas on Pathomechanism of Charcot-Marie-Tooth and Related Peripheral Neuropathies

152

(8)

H. W. Muller

Characterization of the Effect on Adhesion of Different Mutations in Myelin P0 Protein

160

(8)

Marie T. Filbin

Kejia Zhang

Wenhui Li

Ying Gao

Connexin32 in the Peripheral Nervous System: Functional Analysis of Mutations Associated with X-linked Charcot-Marie-Tooth Syndrome and Implications for the Pathophysiology of the Disease

168

(18)

S. M. Nicholson

C. Ressot

D. Gomes

P. D'Andrea

J. Perea

N. Duval

R. Bruzzone

Ultrastructural Immunocytochemical Abnormalities of Peripheral Myelin Proteins in Hereditary Sensory--Motor Neuropathies: 12 Cases

186

(10)

Thierry Anani

Philippe Sindou

Laurence Richard

Martine Diot

Jean-Michel Vallat

Session C. Schwann Cell Cultures and Studies of Myelination

Schwann Cell--Derived Desert Hedgehog Signals Nerve Sheath Formation

196

(7)

Rhona Mirsky

Eric Parmantier

Andrew P. McMahon

Kristjan R. Jessen

Neurofibromin, the Neurofibromatosis Type 1 Ras-GAP, Is Required for Appropriate P, Expression and Myelination

203

(12)

Thorsten Rosenbaum

Haesun A. Kim

Ying L. Boissy

Bo Ling

Nancy Ratner

The Biology of Chronically Denervated Schwann Cells

215

(19)

Susan M. Hall

Session D. Mouse and Rat Models in Studies of CMT

Distinct Phenotypes Associated with Increasing Dosage of the PLP Gene: Implications for CMT1A due to PMP22 Gene Duplication

234

(13)

T.J. Anderson

M. Klugmann

C. E. Thomson

A. Schneider

C. Readhead

K-A. Knave

I. R. Griffiths

Transgenic Mouse Models of CMT1A and HNPP

247

(7)

Ueli Suter

Klaus-Armin Nave

The ``CMT Rat'': Peripheral Neuropathy and Dysmyelination Caused by Transgenic Overexpression of PMP22

254

(8)

Stephan Niemann

Michael W. Sereda

Moritz Rossner

Helen Stewart

Ueli Suter

Hans-Michael Meinck

Ian R. Griffiths

Klaus-Armin Nave

Trembler as a Mouse Model of CMT1A?

262

(11)

Bertrand Garbay

Jerome Salles

Anja Knoll

Francoise Boiron-Sargueil

Anthony M. Heape

Jacques Bonnet

Claude Cassagne

P0-Deficient Knockout Mice as Tools to Understand Pathomechanisms in Charcot-Marie-Tooth 1B and P0-Related Dejerine-Sottas Syndrome

273

(8)

Rudolf Martini

The Absence of Myelin P0 Protein Produces a Novel Molecular Phenotype in Schwann Cells

281

(13)

Daniela Maria Menichella

Wenbo Xu

Huiyuan Jiang

Jasloveleen Sohi

Jean-Michael Vallat

Pierluigi Baron

John Kamholz

Michael Shy

Peripheral Nerve Dysmyelination Due to P0 Glycoprotein Overexpression Is Dose-Dependent

294

(8)

Angelo Quattrini

Maria Laura Feltri

Stefano Previtali

Marina Fasolini

Albee Messing

Lawrence Wrabetz

Characterization of Targeted Connexin32-Deficient Mice: A Model for the Human Charcot-Marie-Tooth (X-type) Inherited Disease

302

(8)

Klaus Willecke

Achim Temme

Barbara Teubner

Thomas Ott

Nerve Conduction Abnormalities and Neuromyotonia in Genetically Engineered Mouse Models of Human Hereditary Neuropathies

310

(11)

Jurgen Zielasek

Klaus V. Toyka

Part III. Genotype/Phenotype Correlations in Charcot-Marie-Tooth

Electrophysiologica Features of Inherited Demyelinating Neuropathies: A Reappraisal

321

(15)

Richard A. Lewis

Austin J. Sumner

Human Nerve Pathology Caused by Different Mutational Mechanisms of the PMP22 Gene

336

(8)

Anneke Gabreels-Festen

Rudi van de Wetering

Variability of Presentation in Hereditary Neuropathy with Liability to Pressure Palsy Results in Underrecognition

344

(7)

Neeraj Kumar

Julie Cole

Gareth J. Parry

Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations

351

(15)

James Y. Garbern

Franca Cambi

Richard Lewis

Michael Shy

Anders Sima

George Kraft

J. M. Vallat

E. P. Bosch

M. E. Hodes

Stephen Dlouhy

Wendy Raskind

Thomas Bird

Wendy Macklin

John Kamholz

Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease

366

(17)

Angelika F. Hahn

Charles F. Bolton

Christopher M. White

William F. Brown

Sascha E. Tuuha

Charles C. Tan

Peter J. Ainsworth

Part IV. Diagnosis and Therapy of Charcot-Marie-Tooth

Mutation Testing in Charcot-Marie-Tooth Neuropathy

383

(6)

Garth A. Nicholson

Molecular Diagnostic Testing in Charcot-Marie-Tooth Disease and Related Disorders: Approaches and Results

389

(8)

P. De Jonghe

E. Nelis

V. Timmerman

A. Lofgren

J-J. Martin

C. Van Broeckhoven

Overcoming Cellular Immunity to Prolong Adenoviral-Mediated Gene Expression in Sciatic Nerve

397

(18)

Agnes Jani

Daniela Menichella

Huiyuan Jiang

Taibi Chbihi

Gyula Acsadi

John Kamholz

Michael E. Shy

Abnormal Schwann Cell-Axon Interactions in CMT Neuropathies: The Effects of Mutant Schwann Cells on the Axonal Cytoskeleton and Regeneration-Associated Myelination

415

(12)

Zarife Sarenk

Trophic Factors in Neuron--Schwann Cell Interactions

427

(12)

H. C. Hyman Friedman

A. J. Aguayo

G. M. Bray

Part V. Poster Papers

Distal Hereditary Motor Neuronopathy of the Jerash Type

439

(4)

L. T. Middleton

K. Christodoulou

A. Mubaidin

E. Zamba

M. Tsingis

K. Kyriacou

S. Abu-Sheikh

T. Kyriakides

V. Neocleous

D. M. Georgiou

M. El-Khateeb

A. Al-Qudah

K. Horany

Hereditary Neuralgic Amyotrophy: Mutation Analysis of Candidate Genes

443

(2)

J. Meuleman

G. Kuhlenbaumer

A. Schirmacher

M. Wehnert

P. Young

F. Stogbauer

E. B. Ringelstein

C. Van Broeckhoven

V. Timmerman

A Second Family with Autosomal Dominant Burning Feet Syndrome

445

(4)

G. Kuhlenbaumer

P. Young

R. Kiefer

V. Timmerman

J.-F. Wang

J. M. Schroeder

J. Weis

E. B. Ringelstein

C. Van Broeckhoven

F. Stoegbauer

Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement: Clinical Pathological, and Genetic Features

449

(4)

Masanori Nakagawa

Hiroshi Takashima

Masahito Suehara

Mineki Saito

Akiko Saito

Naomi Kanzato

Toshio Matsuzaki

Keiko Hirata

Shuji Izumo

Joseph D. Terwilliger

Mitsuhiro Osame

The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33

453

(4)

A. Guilbot

M. Kessali

N. Ravise

T. Hammadouche

A. Bouhouche

T. Maisonobe

D. Grid

A. Brice

E. LeGuern

Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A

457

(3)

Catherine D. Kashork

Ken-Shiung Chen

James R. Lupski

Lisa G. Shaffer

Preimplantation Diagnosis for Charcot-Marie-Tooth Type 1A

460

(3)

A. Lofgren

A. De Vos

K. Sermon

I. Liebaers

A. Van Steirteghem

C. Van Broeckhoven

Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24

463

(3)

Joy Irobi

Vincent Timmerman

Peter De Jonghe

Els De Vriendt

Christine Van Broeckhoven

J. Beuten

A Family with Friedreich Ataxia and Onion-Bulb Formations at Sural Nerve Biopsy

466

(3)

A. A. Barreira

W. Marques, Jr

M. G. Sweeny

M. B. Davis

L. Chimelli

M. L. Paco-Larson

N. W. Wood

Proximal Charcot-Marie-Tooth Syndrome with Duplication on Chromosome 17p11.2

469

(3)

Michaela Auer-Grumbach

Klaus Wagner

Franz Payer

Hans-Peter Hartung

Modification of CMT1 Phenotypes by the Independent Coexisting Neurogenetic Disorders, McArdle Disease and Chromosome 5p Trisomy

472

(5)

Florian P. Thomas

Thomas J. Geller

Angelika F. Hahn

Ludwig Gutman

Xin-Li Huang

Hui Wu

Herman E. Wyandt

Roger Lebo

Heterozygous Null Mutation in the P0 Gene Associated with Mild Charcot-Marie-Tooth Disease

477

(4)

D. Pareyson

D. Menichella

S. Botti

A. Sghirlanzoni

E. Fallica

M. Mora

C. Ciano

M. E. Shy

F. Taroni

A Unique Mutation in Connexin32 Associated with Severe, Early Onset CMTX in a Heterozygous Female

481

(4)

Grace S. Lin

Jonathan D. Glass

Susan Shumas

Steven S. Scherer

Kenneth H. Fischbeck

Charcot-Marie-Tooth 1A: Heterozygous T118M Mutation over a CMT1A Duplication Has No Influence on the Phenotype

485

(5)

P. Seeman

R. Mazanec

T. Marikova

B. Rautenstrauss

Correlation between Weakness and Axonal Loss in Patients with CMT1A

490

(3)

Karen Krajewski

Cheryl Turansky

Richard Lewis

James Garbern

Steven Hinderer

John Kamholz

Michael E. Shy

Mutation Screening of Charcot-Marie-Tooth Patients in Poland

493

(4)

A. Kochanski

V. Timmerman

H. Jedrzejowska

B. Ryniewicz

A. Lofgren

E. De Vriendt

C. Van Broeckhoven

A. Latos-Bielenska

I. Hausmanowa-Petrusewicz

Phenotypic Manifestations in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication

497

(3)

Nicolas Dupre

Jean-Pierre Bouchard

Louise Cossette

Denis Brunet

Michel Vanasse

Bernard Lemieux

Gilles Mathon

Jack Puymirat

HMSN and HNPP: Laboratory Service Provision in the South West of England---Two Years' Experience

500

(4)

M. M. Williams

L. A. Tyfield

P. Jardine

P. W. Lunt

D. L. Stevens

P. D. Turnpenny

Electrodiagnostic Findings in CMTX: A Disorder of the Schwann Cell and Peripheral Nerve Myelin

504

(4)

Richard A. Lewis

Michael E. Shy

Alterations in Nodes of Ranvier and Schmidt-Lanterman Incisures in Charcot-Marie-Tooth Neuropathies

508

(5)

Zarife Sahenk

Jerry R. Mendell

Induction of Myelin Gene Expression in Murine Schwann Cells in Primary Culture and in a Schwann Cell Line

513

(5)

S. M. Nicholson

D. Gomes

A. Baron-Van Evercooren

R. Bruzzone

Schwann Cell Apoptosis during Cell-Mediated Demyelination

518

(2)

G. Conti

E. Scarpini

A. Rostami

S. Livraghi

R. Clerici

L. Piccio

I. Siglienti

P. L. Baron

D. Pleasure

G. Scarlato

Human Schwann Cell Proliferation and IL-6 Production following TNF-α Stimulation in Vitro

520

(3)

E. Scarpini

G. C. Conti

S. Bussini

R. Clerici

I. Siglienti

L. Piccio

A. De Pol

P. L. Baron

G. Scarlato

Tumor Necrosis Factor-α Induces Monocyte Chemoattractant Protein-1 mRNA in a Schwann Cell Line

523

(3)

M. C. Subang

P. M. Richardson

Altered Assembly of Gap Junction Channels Caused by COOH-Terminal Connexin32 Mutants of CMTX

526

(4)

Luis C. Barrio

Carmen Castro

Juan M. Gomez-Hernandez

Altered Protein Synthesis in Sciatic Nerve by Transgenic Overexpression of PMP22 in the CMT rat

530

(3)

Michael W. Sereda

Characteristics of Gap Junction Channels in Schwann Cells from Wild-Type and Connexin-Null Mice

533

(5)

Shumin Zhao

Alfredo Fort

David C. Spray

MBP-LacZ Transgene Expression in Juvenile and Adult Trembler-J Mice

538

(3)

Hooman F. Farhadi

Reza Forghani

Alan C. Peterson

Index of Contributors

541

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Charcot-Marie-Tooth Disorders

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