DYTI mutation in Japanese patients with primary torsion dystonia

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 dy stonia. We examined 178 Japanese patients with various forms of dystonia, a nd found the mutation in six patients (3.4%) from three families. Five of t hem 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 c linical features of DYT1 mutation in oriental patients, and the clinical pr esentation of the mutation in these patients was similar to that of Jewish or non-Jewish Caucasian patients. NeuroReport 12:793-795 (C) 2001 Lippincot t Williams & Wilkins.