Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family

Gösta Holmgren, Laurie Ozelius, Lars Forsgren, Bela G.L. Almay, Monica Holmberg, Patricia Kramer, Stanley Fahn, Xandra O. Breakefield

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


A gene (DYTI) for early onset idiopathic torsion dystonia was mapped to chromosome 9q34 in non-Jewish and Jewish families. The DYTI gene region has been excluded in other families with adult onset and cervical or cranial onset idiopathic torsion dystonia from the United States, Great Britain, and France. The role of DYTI in a Swedish family with adult onset idiopathic torsion dystonia in four generations was examined. The disease seems to be inherited in an autosomal dominant mode with reduced penetrance in this family. There were 10 affected family members, with a mean age of onset of 27 (range 18 to 50) years. The disease showed variable expression, with focal, multifocal, and generalized forms of dystonia in different family members. Genetic analysis excluded the chromosomal region containing the DYTI locus as being responsible for dystonia in this family.

Original languageEnglish (US)
Pages (from-to)178-181
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Issue number2
StatePublished - 1995
Externally publishedYes

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health


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