Leukodystrophies

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 brains 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.

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 Jrg Dietrich and Chris Prschel 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 Krgeloh-Mann 9 CANAVAN DISEASE 156 Kimberlee Michals and Reuben Matalon 10 PELIZAEUSMERZBACHER 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