Abstract
The leukodystrophies are a group of inherited metabolic disorders in which there is abnormal development or progressive degeneration of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. Each of the leukodystrophies is the result of a defect in the gene that controls the production or metabolism of one (and only one) of the many component molecules of myelin. The word leukodystrophy comes from the Greek roots leuko, white, dys, lack of, and troph, growth. Specific leukodystrophies include metachromatic leukodystrophy, Krabbé disease, adrenoleukodystrophy, Pelizaeus–Merzbacher disease, Canavan disease, Alexander disease, Refsum disease, cerebrotendinous xanthomatosis, and childhood ataxia with central nervous system hypomyelination (also known as vanishing white matter disease).
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Escolar, M.L., Aldenhoven, M. (2013). Leukodystrophies and Lysosomal Storage Disorders. In: Boelens, J., Wynn, R. (eds) Stem Cell Therapy in Lysosomal Storage Diseases. Stem Cell Biology and Regenerative Medicine. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4614-8357-1_4
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