Main 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 Jorg Dietrich and Chris Proschel 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 Krageloh-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