| H01255 | |
| H number | H01255 |
| Name | Juvenile-onset dystonia |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | ACTB [HSA:60] [KO:K05692] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A02.0Y ICD-10: Q87.8 MeSH: C537704 OMIM: 607371 |
| Reference | PMID:16685646 AUTHORS 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 TITLE A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. JOURNAL Am J Hum Genet 78:947-60 (2006) DOI:10.1086/504271 PMID:12325076 AUTHORS Gearing M, Juncos JL, Procaccio V, Gutekunst CA, Marino-Rodriguez EM, Gyure KA, Ono S, Santoianni R, Krawiecki NS, Wallace DC, Wainer BH TITLE Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. JOURNAL Ann Neurol 52:465-76 (2002) DOI:10.1002/ana.10319 |