Leukodystrophies (International Review of Child Neurology Series)

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Leukodystrophies (International Review of Child Neurology Series)

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  • 製本 Hardcover:ハードカバー版/ページ数 236 p.
  • 言語 ENG
  • 商品コード 9781907655098
  • DDC分類 616

Full Description

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.

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

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