Ontology highlight
ABSTRACT:
SUBMITTER: Topcu M
PROVIDER: S-EPMC1288127 | biostudies-literature | 2000 Feb
REPOSITORIES: biostudies-literature
American journal of human genetics 20000201 2
The leukodystrophies form a complex group of orphan genetic disorders that primarily affect myelin, the main constituent of the brain white matter. Among the leukodystrophies of undetermined etiology, a new clinical entity called "vacuoliting megalencephalic leukoencephalopathy" (VL) was recently recognized. VL is characterized by diffuse swelling of the white matter, large subcortical cysts, and megalencephaly with infantile onset. Family studies in several ethnic groups have suggested an autos ...[more]