Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.
Synonyms: Dysmyelinogenic Leukodystrophy, Fibrinoid Degeneration of Astrocytes, Alexander Disease, Leukodystrophy with Rosenthal Fibers, Alexander's Disease, Alexanders Disease, Demyelinogenic Leukodystrophy
Instance information
comment
2003
identifier
D038261