Intermediate alleles of HTT gene in patients with Parkinson’s disease

Д. Е. Гомбоева, Е. Ю. Брагина,М. А. Никитина,Н. Г. Жукова,В. М. Алифирова, М. С. Назаренко, В. П. Пузырев

Medicinskaâ genetika(2020)

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摘要
Huntington’s disease (HD) is a neurodegenerative disease, caused by a CAG-repeat expansion in exon 1 of the HTT gene. The number of repeats more than 36 leads to HD. The range of 27-35 CAG-repeats is called as intermediate alleles (IAs). There is a growing evidence of importance of IAs for patients with other neurodegenerative diseases. In this study we have detected two cases of carriage of IAs in patients with Parkinson’s disease (PD). The analysis of clinical picture has revealed atypical clinical features of PD in these individuals. Thus, IAs of HTT gene may provide a modifying effect on clinical features of PD.
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