Genetics of hereditary forms of dystonia

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Abstract

Dystonia is one of the most common movement disorders with great medical, social and economic importance. Genetics plays significant role in the development of different, and mainly primary, forms of dystonia. At present the range of hereditary dystonic syndromes comprises more than twenty separate clinicalgenetic variants, which characterizes dystonia as a highly heterogeneous nosologic group calling for differentiated approaches to diagnosis and treatment. Detailed analysis of the literature on hereditary forms of dystonia, including clinical picture, molecular genetic basis, phenotype–genotype correlations, and principles of DNA diagnostics and medical genetic counseling of affected families, is presented.

 
 

About the authors

M. Yu. Krasnov

Research Center of Neurology

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

Sofiya L. Timerbaeva

Research Center of Neurology

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

Sergey N. Illarioshkin

Research Center of Neurology

Email: merritt.kraut@gmail.com
ORCID iD: 0000-0002-2704-6282

D. Sci. (Med.), Prof., Corr. Member of the Russian Academy of Sciences, Deputy Director, Head, Department for brain research

Russian Federation, Moscow

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