Leukodystrophies: 2 (International Review of Child Neurology) - Tapa dura

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.

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.