| H00065 | |
| H番号 | H00065 |
| 名称 | アレキサンダー病 |
| 概要 | 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. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | - |
| 病因遺伝子 | GFAP; glial fibrillary acidic protein (mutation) [HSA:2670] [KO:K05640] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Disease class: leukodystrophy Affected regtion: midbrain, cerebellum Microscopic lesion: Rosenthal fibers |
| リンク | ICD-11: 8A44.2 MeSH: D038261 OMIM: 203450 |
| 文献 | PMID:17498694 著者 Quinlan RA, Brenner M, Goldman JE, Messing A. タイトル GFAP and its role in Alexander disease. 雑誌 Exp Cell Res 313:2077-87 (2007) DOI:10.1016/j.yexcr.2007.04.004 PMID:16826512 著者 Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA タイトル 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. 雑誌 Am J Hum Genet 79:197-213 (2006) DOI:10.1086/504411 PMID:16774812 著者 Ishigaki K, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M タイトル TRH therapy in a patient with juvenile Alexander disease. 雑誌 Brain Dev 28:663-7 (2006) DOI:10.1016/j.braindev.2006.05.001 PMID:12175861 著者 Li R, Messing A, Goldman JE, Brenner M タイトル GFAP mutations in Alexander disease. 雑誌 Int J Dev Neurosci 20:259-68 (2002) DOI:10.1016/S0736-5748(02)00019-9 PMID:11138011 著者 Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A タイトル Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 雑誌 Nat Genet 27:117-20 (2001) DOI:10.1038/83679 |