Spinocerebellar Ataxia Type 10 (SCA 10) in Brazil

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant inherited ataxia caused by the expansion of ATTCT pentanucleotide repeats in intron 9 of the ATXN10 gene. This rare form of SCA has predominantly been observed in individuals of Indigenous American and East Asian descent. Notably, in Mexico and the southern Brazilian states of Paraná and Santa Catarina, SCA10 is identified as the second most prevalent type of spinocerebellar ataxia. Initially, the phenotype described in Mexico featured a combination of cerebellar ataxia and epilepsy-a presentation also observed in other Latin American and Asian countries, as well as some Brazilian states. However, in Paraná and Santa Catarina, the predominant manifestation of SCA10 is pure cerebellar ataxia, which is distinguished from the presentations seen in other regions.