A female case of spinocerebellar ataxia type 10 with suicidal behavior and endocrinpathies associated with a massive expansion (attct) of the gene atxn10
Actas Esp Psiquiatr. 2022 Jan;50(1):58-62. Epub 2022 Jan 1.ABSTRACTSpinocerebellar 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.PMID:35103298
Source: Actas Espanolas de Psiquiatria - Category: Psychiatry Authors: Sergio A Ramirez-Garcia Jos é Sánchez-Corona V íctor Volpini-Bertran Mar ía Cristina Moran-Moguel Susan A Guti érrez-Rubio Gema Casta ñeda-Cisneros Javier Jim énez-Gil Diana Garcia-Cruz Source Type: research