KEGG   DISEASE: Juvenile-onset dystoniaHelp
Entry
H01255                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01255  Juvenile-onset dystonia
BRITE hierarchy
Pathway
hsa04145  Phagosome
hsa04510  Focal adhesion
hsa04520  Adherens junction
hsa04530  Tight junction
hsa04670  Leukocyte transendothelial migration
hsa04810  Regulation of actin cytoskeleton
Gene
ACTB [HSA:60] [KO:K05692]
Other DBs
ICD-10: Q87.8
MeSH: C537704
OMIM: 607371
Reference
PMID:16685646 (description, gene)
  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
Reference
PMID:12325076 (description, gene)
  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

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