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
AUTHORS’ APPOINTMENTS vii
DEDICATION AND ACKNOWLEDGMENT x
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
'This is a great book for those interested in metabolic disorders of the brain and myelination. The clinical disorders and therapeutic approaches are detailed appropriately for clinicians and scientists. In addition, the research is current and stimulates more questions to be answered.'
Amaal Starling, MD, Mayo Clinic Arizona
'It will be very useful as both an introduction and a reference source to various health professionals interested in disorders of white matter.'
Raphael Schiffmann, The Lancet Neurology, 2011
'Like all of the volumes from the Mac Keith Press, this one features hard covers, sturdy binding, and an attractive layout. Numerous high-quality magnetic resonance images, excellent diagrams, and useful tables are included. A final 4 pages contain striking fullcolor images on glossy paper. The index is detailed, and the references are up to date. This volume is essential for physicians who treat children with metabolic diseases. It is also useful for child neurologists, and is a valuable resource for trainees studying for certification.'
Robert J. Baumann, Pediatric Neurology, 2011