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• W2020077860 abstract "Leukodystrophies are a group of genetic diseases that predominantly affect the white matter of the brain. Although each disorder is rare, about 30 distinct clinical genetic entities exist, with an estimated frequency of one in 7600 livebirths. Leukodystrophies are associated with substantial physical and mental disability; average yearly medical costs are roughly US$22 500 per patient. The diseases weigh heavily on affected families and also place a large burden on society. Correct diagnosis of leukodystrophies can sometimes take years and involve many unnecessary tests. Unfortunately, few if any effective treatments exist for these devastating diseases. In this context, the new book Leukodystrophies is a welcome addition to the published work on the subject. It is a multi-author textbook in which each chapter is written by expert basic science or clinical researchers. This book is dedicated to the memory of Hugo Moser, the specialty's most prominent figure, who for many years successfully combined basic research and clinical investigation to study disease mechanisms and develop novel treatments, particularly for X-linked adrenoleukodystrophy. The first part of the book covers general topics, while the second part focuses on some of the specific leukodystrophies. The chapter about myelination in health and disease is superb. Other chapters about the role of astrocytes and microglia in white matter disease are also well written and comprehensive. The first sections provide a basis for the later chapters about X-linked adrenoleukodystrophy, metachromatic leukodystrophy, and Krabbe, Alexander, Canavan, and Pelizaeus-Merzbacher diseases. Each disorder is described in a comprehensive yet succinct manner with important accompanying insights. For example, readers are reminded that arylsulfatase A deficiency is not a sufficient reason for diagnosis of metachromatic leukodystrophy. However, topics such as the usefulness and ethical considerations of newborn screening for early-onset leukodystrophies are either not included or are barely mentioned. Chapters in the last part of the book focus on various therapeutic modalities and approaches to the diagnosis of leukodystrophies. Many treatments have been tried, but few if any satisfactory therapies have been identified for these genetic disorders. The section on the clinical approach to diagnosis of leukoencephalopathy is comprehensive, but it does not contain a clear systematic approach or an algorithm for the clinician to follow. Although this book leaves out detailed descriptions of many of the more recently described leukodystrophies, it will be very useful as both an introduction and a reference source to various health professionals interested in disorders of white matter." @default.
• W2020077860 created "2016-06-24" @default.
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• W2020077860 date "2011-12-01" @default.
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• W2020077860 title "A welcome introduction to leukodystrophies" @default.
• W2020077860 doi "https://doi.org/10.1016/s1474-4422(11)70257-5" @default.
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