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

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 (0.969.00 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.

Keywords

• spinocerebellar ataxia type 6
• stable expansion of cag repeats
• rapid disease progression
• decreased life expectancy