© 2019, Springer Science+Business Media, LLC, part of Springer Nature. Spinocerebellar ataxia type 10 (SCA10) is a repeat expansion disease occurring mostly in Latin America, suggesting that the mutation spread with the peopling of the Americas, or that Amerindian populations, have a higher ATXN10 mutability. High frequency of large normal alleles is associated with prevalence and relative frequency of other repeat expansion diseases. To test whether the allele distribution of the SCA10-causing ATXN10 microsatellite in an Amerindian Peruvian population differs from that of other populations. The ATXN10 allele distribution in a Quechua Peruvian population from Puno, Peru, is similar to that of Finland. Mean allele size and mode were also similar to those of Mexico, Japan, and white Europeans. ATXN10 allele distribution in a healthy Amerindian population from Peru does not differ from that of other populations.
Véliz-Otani, D., Inca-Martinez, M., Bampi, G. B., Ortega, O., Jardim, L. B., Saraiva-Pereira, M. L., Mazzetti, P., & Cornejo-Olivas, M. (2019). ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population. Cerebellum, 841-848. https://doi.org/10.1007/s12311-019-01057-x