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 Disease – X-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