Phenotypic features of a Russian family with spinocerebellar ataxia type 6 from Khabarovsk Krai

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Abstract

The article presents a familial case of spinocerebellar ataxia type 6, consisting of 7 people across 4 generations from a mixed marriage of Yakut, Even, and Russian ethnicities, living in Khabarovsk Krai. The mutant allele of the CACNA1A gene had 27 stable CAG repeats in all patients (normal is <18 CAG repeats), while the normal allele had 13 CAG repeats. Clinical features included rapidly progressing cerebellar ataxia in males (0.96–9.00 points per year on the SARA scale); presence of psychological disorders in the form of alcoholism, early-onset binge drinking, completed suicidal behaviors; life expectancy reduced in 2 patients to 27 and 36 years.

 

About the authors

Tatyana N. Proskokova

Far-Eastern State Medical University

Author for correspondence.
Email: proskokova2011@yandex.ru
Russian Federation, Khabarovsk

Dmitry V. I.

Far-Eastern State Medical University

Email: proskokova2011@yandex.ru
Russian Federation, Khabarovsk

Natal’ya B. Serdyuk

Far-Eastern State Medical University

Email: proskokova2011@yandex.ru
Russian Federation, Khabarovsk

Natal’ya Yu. Abramycheva

Research Center of Neurology

Email: proskokova2011@yandex.ru
Russian Federation, Moscow

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Copyright (c) 2021 Proskokova T.N., I. D.V., Serdyuk N.B., Abramycheva N.Y.

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