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Leukodystrophies

  • Chapter
Neurodegenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 724))

Abstract

Leukodystrophies comprise a broad group of progressive, inherited disorders affecting mainly myelin. They often present after a variable period of normalcy with a variety of neurologic problems. Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and prognostication. The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail for some of the major leukodystrophies: X-linked adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, Alexander disease, Canavan disease, megalencephalic leukoencephalopathy with subcortical cysts and vanishing white matter disease.

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  1. Division of Pediatric and Developmental Neurology Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA

    Seth J. Perlman & Soe Mar

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  1. School of Science and Technology, Nottingham Trent University, Nottingham, UK

    Shamim I. Ahmad BSc, MSc, PhD

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Perlman, S.J., Mar, S. (2012). Leukodystrophies. In: Ahmad, S.I. (eds) Neurodegenerative Diseases. Advances in Experimental Medicine and Biology, vol 724. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-0653-2_13

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