Genetic identification, clinical features and prevalence of Spinocerebellar ataxia type 1 in Sakha Republic (Yakutia)

• Published in: Siberian Research
• Main Authors: Goldfarb L.G., Platonov F.A.
• Format: Article in Journal/Newspaper
• Language: English; Russian
• Published: Сибирские исследования 2020
• Subjects: republic of sakha (yakutia); autosomal dominant spinocerebellar ataxia type 1 (sca1); atxn1 gene; trinucleotide repeat expansion; History (General) and history of Europe; D; Medicine; R; Sakha; Triplets; Republic of Sakha; Sakha Republic; Yakutia; Siberia
• Online Access: https://doi.org/10.33384/26587270.2019.02.008e; https://doaj.org/article/4d4460f2b8e3489f9982971237dd0664

Over the past several decades, more than 500 cases of Autosomal dominant spinocerebellar ataxia type 1 (SCA1) have been identified in the Republic of Sakha (Yakutia) of North-Eastern Siberia. The disease leads to long-term disability and death, making it a serious public health burden. The prevalenc...