| H01255 | |
| H番号 | H01255 |
| 名称 | 若年発症型ジストニー |
| 概要 | Juvenile-onset dystonia is a rare progressive neurodegenerative disorder with a primarily dystonic phenotype of juvenile onset, caused by a mutation in one of the major forms of nonmuscle actin gene, ACTB, which is associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | ACTB [HSA:60] [KO:K05692] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A02.0Y ICD-10: Q87.8 MeSH: C537704 OMIM: 607371 |
| 文献 | PMID:16685646 著者 Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH タイトル A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 雑誌 Am J Hum Genet 78:947-60 (2006) DOI:10.1086/504271 PMID:12325076 著者 Gearing M, Juncos JL, Procaccio V, Gutekunst CA, Marino-Rodriguez EM, Gyure KA, Ono S, Santoianni R, Krawiecki NS, Wallace DC, Wainer BH タイトル Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. 雑誌 Ann Neurol 52:465-76 (2002) DOI:10.1002/ana.10319 |