MOLECULAR-BIOLOGY OF LEUKODYSTROPHIES

Leukodystrophies ave hereditary disorders of myelin formation that usually result in progressive clinical deterioration. Therapy has been limited to supportive efforts, although bone marrow transplantation has had some success in specific cases. Mutations in specific genes coding for abnormal proteins have been reported in four leukodystrophies: metachromatic leukodystrophy, Canavan leukodystrophy, Zellweger syndrome, and X-linked adrenoleukodystrophy. Additional investigation is required to further define the genetic basis for these four diseases. These early findings suggest, however, that gene-based therapies are possible in the future.