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III. Examples of other leukodystrophies

III. Examples of other leukodystrophies (not lysosomal storage diseases, may be X-linked)

A. Adrenoleukodystrophy – characterized by the inability to properly catabolize very-long-chain fatty acids within peroxisomes. The X-linked form usually presents in the early school years with neurologic symptoms and adrenal insufficiency and is rapidly progressive and fatal.

B. Pelizaeus-Merzbacher DiseaseX-linked, fatal leukodystrophy characterized by slowly progressive deterioration resulting from wideapread white matter dysfunction. In most cases the gene defect involves proteolipid protein (PLP), a major protein of CNS myelin.

C. Canavan Disease – megalocephaly, severe mental deficits, spongy degeneration of white matter, death by 18 months of age