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.
- Edited by world leaders in research on and treatment of leukodystrophy
- A comprehensive approach to the genetic disorders of myelin in children and adults
- Describes individual leukodystrophies in detail, including pathogenesis, genetics, clinical features, diagnosis and treatment.
Paediatric and adult neurologists, paediatricians, geneticists.
International Review of Child Neurology Series No. 12