Article
Spinocerebellar ataxia type 2 has multiple ancestral origins.
Parkinsonism & related disorders - 1 Mar 2024
Sena Lucas Schenatto, Furtado Gabriel Vasata, Pedroso José Luiz, Barsottini Orlando, Cornejo-Olivas Mario, Nóbrega Paulo Ribeiro, Braga Neto Pedro, Soares Danyela Martins Bezerra, Vargas Fernando Regla, Godeiro Clecio, Medeiros Paula Frassinetti Vasconcelos de, Camejo Claudia, Toralles Maria Betania Pereira, Fagundes Nelson Jurandi Rosa, Jardim Laura Bannach, Saraiva-Pereira Maria Luiza
Abstract excerpt
INTRODUCTION: Spinocerebellar ataxia type 2 (SCA2) is a dominant neurodegenerative disorder due to expansions of a CAG repeat tract (CAGexp) at the ATXN2 gene. Previous studies found only one ancestral haplotype worldwide, with a C allele at rs695871. This homogeneity was unexpected, given the severe anticipations related to SCA2. We aimed to describe informative ancestral haplotypes found in South American SCA2...
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