Leukodystrophies

Gerald V. Raymond, Florian S. Eichler, Ali Fatemi, Sakkubai Naidu

• Publisher: Mac Keith Press
• Year: 2011
• Print ISBN:
  9781907655098
• eBook ISBN:
  9781907655098
• Topic: Medicine
• Subtopic: Neurology

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.This book is 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. 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.

Table of contents

• CONTENTS
• AUTHORS’ APPOINTMENTS
• FOREWORD
• 1 LEUKODYSTROPHY AND MYELIN
• 2 MYELINATION IN HEALTH AND DISEASE
• 3 THE ROLE OF ASTROCYTES IN WHITE MATTER DISEASE
• 4 MICROGLIA AND LEUKODYSTROPHIES
• 5 X-LINKED ADRENOLEUKODYSTROPHY
• 6 KRABBE DISEASE (GLOBOID CELL LEUKODYSTROPHY)
• 7 ALEXANDER DISEASE
• 8 METACHROMATIC LEUKODYSTROPHY
• 9 CANAVAN DISEASE
• 10 PELIZAEUS–MERZBACHER DISEASE: GENETIC MODELS AND MECHANISMS
• 11 THERAPEUTIC APPROACHES IN LEUKODYSTROPHIES
• 12 CLINICAL APPROACH TO IDENTIFICATION OF LEUKOENCEPHALOPATHIES
• INDEX