DYT6 form of idiopathic dystonia

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Abstract

DYT6 is a recently described autosomal dominant form of primary dystonia with early onset of symptoms caused by mutations in THAP1 gene in chromosome 8. The incidence of this form in various populations is extremely variable and ranges from 1% to 25%. Knowledge of the molecular defect underlying the disease largely determines its prognosis and treatment approaches. The article presents the first in the Russian population case of DYT6 dystonia, which was confirmed by detection of c.424A> G (p.T142A) mutation in THAP1 gene. Clinical presentation included acute manifestation of symptoms at the age of 27 years with the development of left-directed latero-retrocollis. The incidence of this form of dystonia in our population of dystonic syndromes was 0.7%. We emphasize phenotypic polymorphism of DYT6 dystonia and the role of genetic testing in its diagnosis.

About the authors

M. Yu. Krasnov

Research Center of Neurology

Email: merritt.kraut@gmail.com
Russian Federation, Moscow

Sofiya L. Timerbaeva

Research Center of Neurology

Email: merritt.kraut@gmail.com
Russian Federation, Moscow

Natal’ya Yu. Abramycheva

Research Center of Neurology

Email: merritt.kraut@gmail.com
Russian Federation, Moscow

M. S. Stepanova

Research Center of Neurology

Email: merritt.kraut@gmail.com
Russian Federation, Moscow

Yuliya A. Shpilyukova

Research Center of Neurology

Email: merritt.kraut@gmail.com
ORCID iD: 0000-0001-7214-583X

Cand. Sci. (Med.), junior researcher, neurologist, 5th Neurology department

Russian Federation, Moscow

Margarita V. Ershova

Research Center of Neurology

Author for correspondence.
Email: merritt.kraut@gmail.com
Russian Federation, Moscow

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Copyright (c) 2016 Krasnov M.Y., Timerbaeva S.L., Abramycheva N.Y., Stepanova M.S., Shpilyukova Y.A., Ershova M.V.

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