Humpath.com - Human pathology

Home > A. Molecular pathology > DYT1

DYT1

MIM.605204 9q34

Tuesday 29 May 2007

Torsin-A, encoded by the DYT1 gene, is a member of the AAA family of adenosine triphosphatases (ATPases), associated with diverse cellular activities.

A GAG deletion in the DYT1 gene is a major cause of early-onset dystonia, but clinical disease expression occurs in only 30% of mutation carriers.

PAthology

- germline mutations of DYT1 in

  • early-onset dystonia (MIM.128100)
  • myoclonic features

A GAG deletion in the DYT1 gene is a major cause of early-onset dystonia, but clinical disease expression occurs in only 30% of mutation carriers. (17503336)

References

- Risch NJ, Bressman SB, Senthil G, Ozelius LJ. Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia. Am J Hum Genet. 2007 Jun;80(6):1188-93. PMID: 17503336

- Greene, P. E.; Dauer, W. : Stiff child syndrome with mutation of DYT1 gene. (Letter) Neurology 66: 1456 only, 2006. PubMed ID : 16682692

- Kamm, C.; Castelon-Konkiewitz, E.; Naumann, M.; Heinen, F.; Brack, M.; Nebe, A.; Ceballos-Baumann, A.; Gasser, T. : GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov. Disord. 14: 681-683, 1999. PubMed ID : 10435508