Leukodystrophy

The term leukodystrophy is generally employed to describe a large and growing family of progressive genetic disorders that cause dysmyelination, demyelination, or both in the central nervous system. Leukodystrophies may result from primary or secondary enzyme deficiencies, or from novel mechanisms, such as impaired regulation of protein translation. Disease-modifying therapy is available for only a few of these disorders, but several experimental approaches are under investigation.