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.

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.

Publication types

  • Case Reports

MeSH terms

  • Ataxin-10
  • DNA Repeat Expansion
  • Female
  • Humans
  • Mexico
  • Spinocerebellar Ataxias* / genetics
  • Suicidal Ideation*

Substances

  • ATXN10 protein, human
  • Ataxin-10

Supplementary concepts

  • Spinocerebellar Ataxia 10