Long-Term Experience in the Molecular Genetic Diagnosis of Friedreich Ataxia in the Russian Federation

Ismagilova, O.; Adyan, T.; Galeeva, N.; Zabnenkova, V.; Shatokhina, O.; Kazaryan, M.; Rudenskaya, G.; Dadali, E.; Saifullina, E.; Polyakov, A. Long-Term Experience in the Molecular Genetic Diagnosis of Friedreich Ataxia in the Russian Federation. Genes 2026, 17, 1169. doi:10.3390/genes17101169  

Friedreich’s ataxia in considered the most common form of autosomal recessive ataxia; however, it’s prevalence in the Russian Federation remains poorly studied. 

This paper presents the results of a long-term study on the molecular genetic causes of FRDA in Russian Federation, yielding an estimated frequency of 1:102,000 individuals for the disease associated with GAA repeat expansion.

Long-Term Experience in the Molecular Genetic Diagnosis of Friedreich Ataxia in the Russian Federation