dyt1 mutations in primary torsion dystonia in iranian population

early-onset, generalized primary torsion dystonia (ptd) is an autosomal dominant disorder, characterized by involuntary movements and abnormal postures. the majority of cases are caused by a 3-bp deletion (gag deletion at position 946) in the dyt1 gene on chromosome 9q34 that allows for specific genetic testing. forty eight patients with early onset primary torsion dystonia were screened for the mutation in exon 5 of the dyt1 gene using pcr and dna sequencing. in this study, we examined 48 iranian patients with dystonia, and found the mutation in 8 patients (17%). the results showed that the prevalence rate of dyt1 mutation was not different between european (27.3%) and asian (22.2%) patients with early onset primary torsion dystonia.