MOLECULAR-GENETIC APPROACH TO INVESTIGATION OF DOMINANT SPINOCEREBELLAR ATAXIAS

At least 5 different genes of autosomal dominant spinocerebellar ataxi as (SCA) were revealed recently. Their discovery permitted to elaborat e the most perfect classification of this heterogenous group of diseas es. In two farms of ataxias (SCA1 and SCA3) the mutations consist in t he expansion of CAG-trinucleotides repetitions. The Russian population of patients with dominant SCA (13 families) was examined for the firs t time in terms of the evaluation of mutant gene carriers of SCA1 and SCA3. SCA1 was diagnosed in 5 families on the molecular level. The cer ebellar ataxia, dysarthria as well as pyramidal symptoms comprised the basis of SCA1 clinical pattern. There were no SCA3 cases at DNA-testi ng. The perspectives of DNA-diagnosis of inherited ataxias were consid ered.