A group of disorders characterized by progressive degeneration of the white matter of the brain, caused by genetic defects in the growth or development of myelin, the fatty covering that acts as an insulator around nerve fibers.
Leukodystrophy refers to a group of progressive genetic disorders that affect the brain, spinal cord, and peripheral nerves. Because each leukodystrophy affects a different chemical that makes up the myelin sheath or white matter covering nerve fibers, having one does not increase likelihood of contracting another (National Institute of Neurological Disorders and Stroke [NINDS], 2001). Leukodystrophies, described by the United Leukodystrophy Foundation (ULF, 2001), include adrenoleukodystrophy (ALD) and neonatal ALD, Aicardi-Gouthieres leukodystrophy, Alexander disease, childhood ataxia with central nervous system hypomyelination (CACH or vanishing white matter disease), cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Canavan disease, cerebrotendinous xanthomatosis (CTX), Krabbe disease, metachromatic leukodystrophy, ovarioleukodystrophy syndrome, Pelizaeus-Merzbacher disease, Refsum disease, Van Der Knapp syndrome, and Zellweger syndrome. Each leukodystrophy has a predictable age of onset, varying from infancy to adulthood, type and severity of symptoms, and expected life span, as described by the ULF (2001), but they share several overlapping characteristics.
Any disease (such as globoid cell leukodystrophy, adrenoleukodystrophy, or metachromatic leukodystrophy) whose hallmarks are metabolic defects in the formation of myelin. Bone marrow transplantation can cure some affected children.
A group of inherited disorders characterized by the progressive deterioration of myelin in the brain, spinal cord, and peripheral nerves.