The prevalence of type 1 spinocerebellar ataxia in Yakutia: current status

Abstract

The Republic of Sakha (Yakutia) is one of the largest centers of accumulation of type 1 spinocerebellar ataxia in the world. In 1997, the prevalence of the SCA1 mutation among Yakuts was 35 cases per 100,000 population, and now this indicator has increased to 77.6 cases. A significant increase in the prevalence rates of SCA1 can be explained by the introduction of a family case accounting system and modern molecular genetic methods for the diagnosis of mutations. On the other hand, the monitoring results indicate the ongoing accumulation of mutations in the Yakut population. In addition, it was found that the boundaries of the known geographical centers of mutation accumulation were expanded and an assumption was made about the population heterogeneity of mutation carriers by the number of CAG repeats.