A disorder that causes progressive degeneration of the white matter of the brain, a result of abnormal development of or decomposition of the myelin sheath.
There are a number of disorders that cause leukodystrophy and each is caused by defective genes that regulate the production or metabolism of one or more components of myelin. Examples of leukodystrophies include adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe’s disease, Pelizaeus-Merzbacher disease, Canavan disease, Alexander disease, and Refsum’s disease. Additional leukodystrophy syndromes with specific genetic abnormalities have recently been described (Schiffmann and van der Knaap 2004). Leukodystrophies are usually inherited but may occur spontaneously as a result of a gene mutation. Inheritance can be autosomal dominant, recessive, or X-linked, depending on the specific disorder. Onset is usually in infancy or childhood and the leukodystrophies typically...