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9781907655098

Leukodystrophies

by ; ; ;
  • ISBN13:

    9781907655098

  • ISBN10:

    1907655093

  • Edition: 1st
  • Format: Hardcover
  • Copyright: 2011-04-18
  • Publisher: Mac Keith Press

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Summary

The leukodystrophies are serious, progressive disorders of demyelination, manifesting themselves in infancy or early childhood and progressing rapidly, leading to loss of sight, hearing, speech, and ambulation, and early death. A comprehensive guide to the genetics and pathogenesis of these disorders, as well as their clinical features, diagnosis and therapy, is needed, particularly as their early identification can allow more effective treatment. This book is the only up-to-date, comprehensive text on leukodystrophies. Its purpose is to summarize for the reader all aspects of the inherited disorders of myelin in children and adults. After a comprehensive overview of myelin and the role of oligodendrocytes, astrocytes and microglia in white matter disease, chapters are then devoted to individual disorders, covering their biochemical and molecular basis, genetics, pathophysiology, clinical features, diagnosis, treatment and screening. The final chapters address therapeutic approaches in leukodystrophies and present a clinical approach to diagnosing leukoencephalopathies in children and adults. The book was conceived by Hugo Moser, whose research led to major developments in the treatment of adrenoleukodystrophy, and is dedicated to him by his colleagues. Readership: Paediatric and adult neurologists, paediatricians, geneticists.

Author Biography

Gerald Raymond is a pediatric neurologist and research scientist at Kennedy Krieger Institute, Associate Professor of Neurology at Johns Hopkins University and on the medical staff in the Department of Pediatrics and Neurology at Johns Hopkins Hospital. He has been involved in the study of adrenoleukodystrophy and other peroxisomal disorders for over 15 years.

Florian Eichler is Director of the Leukodystrophy Service at Massachusetts General Hospital and Assistant Professor of Neurology at Harvard Medical School. His research focus is on the genetics of peroxisomal disorders, lipid metabolism, and spatial aspects of nuclear magnetic resonance spectroscopy.

Ali Fatemi is a pediatric neurologist in the Division of Neurology and Developmental Medicine and an investigator at the Hugo W. Moser Research Institute at Kennedy Krieger. He is also Assistant Professor of Neurology and Pediatrics at Johns Hopkins University. His research interest is in genetic and acquired conditions that affect the brain’s white matter in newborns and infants.

Sakkubai Naidu is a research scientist at the Kennedy Krieger Institute and a Professor in the Departments of Neurology and Pediatrics at the Johns Hopkins University School of Medicine. She has a special interest in developmental and neurogenetic disorders affecting children and adults.

Table of Contents

AUTHORS' APPOINTMENTS vii

DEDICATION AND ACKNOWLEDGMENT x

FOREWORD xi
Ann Moser

1 LEUKODYSTROPHY AND MYELIN 1
Hugo Moser and Gerald V. Raymond

2 MYELINATION IN HEALTH AND DISEASE 5
Grahame Kidd and Bruce D. Trapp

3 THE ROLE OF ASTROCYTES IN WHITE MATTER DISEASE 37
Jörg Dietrich and Chris Pröschel

4 MICROGLIA AND LEUKODYSTROPHIES 60
Patricia Musolino and Florian Eichler

5 X-LINKED ADRENOLEUKODYSTROPHY 75
Gerald V. Raymond

6 KRABBE DISEASE (GLOBOID CELL LEUKODYSTROPHY) 90
David A. Wenger

7 ALEXANDER DISEASE 106
Daniel Flint and Michael Brenner

8 METACHROMATIC LEUKODYSTROPHY 130
Volkmar Gieselmann and Ingeborg Krägeloh-Mann

9 CANAVAN DISEASE 156
Kimberlee Michals and Reuben Matalon

10 PELIZAEUS–MERZBACHER DISEASE: GENETIC MODELS AND MECHANISMS 170
Klaus-Armin Nave and Ajit Singh Dhaunchak

11 THERAPEUTIC APPROACHES IN LEUKODYSTROPHIES 188
Ali Fatemi and Charles Peters

12 CLINICAL APPROACH TO IDENTIFICATION OF LEUKOENCEPHALOPATHIES 209
Sakkubai Naidu, Genila Bibat and Doris Lin

INDEX 229

COLOUR PLATES

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