Source:http://linkedlifedata.com/resource/umls/id/C0270726
JABL: A degenerative brain disease. Infantile type is characterized by a rapidly progressive course, seizures, psychomotor retardation, and hydrocephalus. Juvenile type is marked by a protracted course, bulbar palsy, ataxia, and sometimes mental retardation.,NCI: A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dementia and spasticity.,MSH: 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.