DYT6 form of idiopathic dystonia

Abstract

DYT6 is a recently described autosomal dominant form of primarydystonia with early onset of symptoms caused by mutationsin THAP1 gene in chromosome 8. The incidence of this formin various populations is extremely variable and ranges from 1%to 25%. Knowledge of the molecular defect underlying the diseaselargely determines its prognosis and treatment approaches.The article presents the first in the Russian population case ofDYT6 dystonia, which was confirmed by detection of c.424AG (p.T142A) mutation in THAP1 gene. Clinical presentation includedacute manifestation of symptoms at the age of 27 yearswith the development of left-directed latero-retrocollis. The incidenceof this form of dystonia in our population of dystonicsyndromes was 0.7%. We emphasize phenotypic polymorphismof DYT6 dystonia and the role of genetic testing in its diagnosis.

Keywords

• primary dystonia
• dyt6 form
• thap1 gene
• clinical presentation
• diagnosis