Missense mutations in DYT-TOR1A dystonia

DYT-TOR1A dystonia is caused by dominant mutations in the TOR1A gene, most frequently a heterozygous in-frame deletion in exon 5 (c.904_906delGAG; p.302/303delE).(1) The most frequent phenotype has childhood onset in a limb, spreading to generalized dystonia within a few years. However, also mild focal forms and onset in the cervical and even cranial region have been described. Age at onset varies from 3 to 64 years,(2) and penetrance is only 30%. Other in-frame deletions and point mutations in TOR1A have been associated with dystonia in a limited number of patients.(3,4) Here, we report 2 new patients with missense mutations in TOR1A.