Objective: Huntington’s disease (HD) occurs worldwide with prevalence varying from 0.1 to 10/100,000 depending of the ethnic origin. Since no data is available in the Turkmenistan population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Uzbekish origin.

Background: The Background of this study is to describe clinical and genetic characteristics of Huntington patients of Uzbekistan origin.

Methods: Clinical and genetics data of 21 consecutive patients recruited from 2009 to 2014 from the outpatient clinic of six medical centers were analyzed. Statistical analysis was performed using descriptive statistics

Results: Twenty one patients from 17 families were diagnosed positive for the IT15 gene CAG expansion. Clinical symptoms were predominantly motor (19/21). Twelve patients had psychiatric and behavioral disorders, and 11 patients had cognitive disorders essentially of memory impairment. Analysis of genetic results showed that 5 patients had reduced penetrant (RP) alleles and 16 had fully penetrant (FP) alleles. The mean CAG repeat length in patients with RP alleles was 38.4 ± 0.54, and 45.37 ± 8.30 in FP alleles. The age of onset and the size of the CAG repeat length showed significant inverse correlation (p <0.001, r = -0.754).

Conclusions: Clinical and genetic data of Uzbekistan patients are similar to those of Turkmenistan populations previously reported in the literature.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-and-genetic-data-of-huntington-disease-in-uzbekistan-patient/