DYT1 mutation in Japanese patients with primary torsion dystonia

Neuroreport. 2001 Mar 26;12(4):793-5. doi: 10.1097/00001756-200103260-00035.


A GAG deletion at position 946 in the DYT1 gene has been identified as one of the gene mutations responsible for autosomal dominant primary torsion dystonia. We examined 178 Japanese patients with various forms of dystonia, and found the mutation in six patients (3.4%) from three families. Five of them had early clinical onset (before age 12) with initial involvement of a limb. To our knowledge, this is the first report of the frequency and the clinical features of DYT1 mutation in oriental patients, and the clinical presentation of the mutation in these patients was similar to that of Jewish or non-Jewish Caucasian patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Carrier Proteins / genetics*
  • Child
  • Dystonia Musculorum Deformans / genetics*
  • Family Health
  • Female
  • Gene Deletion*
  • Humans
  • Japan
  • Male
  • Molecular Chaperones*
  • Pedigree


  • Carrier Proteins
  • Molecular Chaperones
  • TOR1A protein, human