H00065 | |
H number | H00065 |
Name | Alexander disease |
Description | 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 |
Network | - |
Gene | GFAP; glial fibrillary acidic protein (mutation) [HSA:2670] [KO:K05640] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Disease class: leukodystrophy Affected regtion: midbrain, cerebellum Microscopic lesion: Rosenthal fibers |
Other DBs | ICD-11: 8A44.2 MeSH: D038261 OMIM: 203450 |
Reference | PMID:17498694 AUTHORS Quinlan RA, Brenner M, Goldman JE, Messing A. TITLE GFAP and its role in Alexander disease. JOURNAL Exp Cell Res 313:2077-87 (2007) DOI:10.1016/j.yexcr.2007.04.004 PMID:16826512 AUTHORS 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. JOURNAL Am J Hum Genet 79:197-213 (2006) DOI:10.1086/504411 PMID:16774812 AUTHORS Ishigaki K, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M TITLE TRH therapy in a patient with juvenile Alexander disease. JOURNAL Brain Dev 28:663-7 (2006) DOI:10.1016/j.braindev.2006.05.001 PMID:12175861 AUTHORS Li R, Messing A, Goldman JE, Brenner M TITLE GFAP mutations in Alexander disease. JOURNAL Int J Dev Neurosci 20:259-68 (2002) DOI:10.1016/S0736-5748(02)00019-9 PMID:11138011 AUTHORS Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A TITLE Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. JOURNAL Nat Genet 27:117-20 (2001) DOI:10.1038/83679 |