Alexander disease is a rare, but often fatal neurological disorder that has been divided into three subtypes based on the age of onset: the infantile, juvenile and adult forms. The characteristic neuropathological feature of all forms of Alexander's disease is the presence of Rosenthal fibers which include protein aggregates that contain glial fibrillary acidic protein (GFAP) and small stress proteins in astrocytes.
Category
Neurodegenerative disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Multiple sclerosis or other white matter disorders
8A44 Leukodystrophies
H00065 Alexander disease
Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA
Title
The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27.
