A female case of spinocerebellar ataxia type 10 with suicidal behavior and endocrinpathies associated with a massive expansion (attct) of the gene atxn10.

Sergio A Ramirez-Garcia,José Sánchez-Corona, Víctor Volpini-Bertran,María Cristina Moran-Moguel,Susan A Gutiérrez-Rubio,Gema Castañeda-Cisneros, Javier Jiménez-Gil,Diana Garcia-Cruz

Actas espanolas de psiquiatria（2022）

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Abstract

Spinocerebellar ataxia type 10 (SCA10) is characteri- zed by ataxia, psychiatric disorders convulsions, and locus at 22q13.311. It is caused by expansions between 800-4500 pentanucleotide ATTCT repeats in intron 9 of the ATXN10 gene1-2. The ATXN10 gene encodes ataxin-10 protein (known as E46L) involved in neuritogenesis 1. SCA10 has a founder origin in Mexican, Brazilian, Argentine populattons but is rare in others.

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