CLINICAL-GENEALOGICAL AND MOLECULAR-GENETIC FEATURES IN PATIENTS WITH SPINOCEREBELLY ATAXY 1 TYPE AND DENTATORUBROPALLIDOLIDIS ATROPHY IN YAKUTIA
Clinical-genealogical and molecular-genetic analysis for the presence of mutations in the gene ATXN1 was performed among the entire sample of 177 people. Of these, 104 patients with expansion of CAG repeats in the gene ATXN1 showed an average age at onset of the disease, depending on the number of pathological CAG repeats. It was revealed that the more the amount of pathological repetition, the earlier the appearance of symptoms. From October 2017 to September 2018, 22 patients from 104 patients with a confirmed diagnosis of SCA were hospitalized at the Yаkut Science Centre of complex medical problems. A supportive course of therapy was prescribed for everyone: aminoplasmol 250.0 every other day, vascular therapy, exercise therapy. All patients are assessed on the SARA (scale of assessment and assessment of ataxia). 17 patients had a good course of amino acids and noted a distinct subjective and objective improvement of specific ataxic dysfunctions of the corresponding movements. We suggest that patients with the least amount of pathological CAG repeat give a faster and longer-lasting effect of the course of maintenance therapy. To confirm your theory, patients are required to monitor the dynamics in a larger sample. Expansion of CAG repeats in the gene ATN1 gene was found in 5 individuals from one Yakut family, in 4 adults with ataxia clinic and 1 child without ataxia. All four had a late debut disease, in the clinic: ataxia, choreoathetosis and mental disorders.