Objective: This study aims to estimate the prevalence of HD and analyze structure of patients in Tatarstan republic based on data of Republican Consultative and diagnostic Center for Movement Disorders (here and after Center).

Background: Huntington’s disease (HD) is a rare severe neurodegenerative disease with an autosomal dominant type of inheritance, developing as a result of expansion of CAGrepeat and manifested by motor, cognitive and emotional impairment.

Method: The study was conducted in a retrospective one-moment design. The data were subjected to statistical processing. For statistically significant changes, a confidence level of P <0.05 was taken. Prevalence of HD were calculated by dividing the number of prevalent HD cases by the study population and estimates are presented per 100,000 persons. All analyses were carried out with stratification by sex, age, debut of HD.

Results: There are 73 uniquepatients with HD observed in the Centerwho had at least 1 visit in 2020: 65 of them had manifested with motor disturbances and 8 have no motor signs. Of 65 manifest patients with HD 60% (n = 39) are women, 40% (n = 26) are men. The mean age of manifest was 54.1 ± 10.3 years, mean age of HD-carriers without motor signs was 40.8 ± 4.5 years. When stratifying patients by the age there is a moderate negative correlation (r = -0.6) between the age of motor onset of HD and the length of CAG-repeats.
Hereditary history of HD was following in 74% of patients, but in 26% of patients (n = 17) – there was not. In patients with known history 21 had paternal transmission, 27 – maternal. Patients with paternal inheritance noticed motor onset of HD at 7.8 ± 11.4 years earlier than their parent, patients with maternal inheritance – at 5.8 ± 10.1 years earlier.
Mean age of patients with de novo HD mutations was 64,9 ± 10.9 years, mean CAG-lenth 42 ± 4,5 repeats. Patients with known HD history were statistically significantly (P = 0.04) younger (50.3 ± 11.5 years) with 44 ± 6 repeats (P > 0.05). Patients with HD debut at age 19 – 29 with 44 ± 6 repeats were statistically significant younger than their parents when noticing HD sings (p = 0.013) in comparison with patients of other groups.
The population of the Republic of Tatarstan at the beginning of 2020 amounted to 3902888 inhabitants.According to the appeal to the Center the prevalence of HD was revealed as1.9 cases per 100,000 population in Tatarstan Republic.

Conclusion: /

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