A FEMALE CASE OF SPINOCEREBELLAR ATAXIA TYPE 10 WITH SUICIDAL BEHAVIOR AND ENDOCRINPATHIES ASSOCIATED WITH A MASSIVE EXPANSION (ATTCT) OF THE GENE ATXN10

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) invol...

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Published inActas espanolas de psiquiatria Vol. 50; no. 1; pp. 58 - 62
Main Authors Ramirez-Garcia, Sergio A, Sánchez-Corona, José, Volpini-Bertran, Víctor, Moran-Moguel, María Cristina, Gutiérrez-Rubio, Susan A, Castañeda-Cisneros, Gema, Jiménez-Gil, Javier, Garcia-Cruz, Diana
Format Journal Article
LanguageEnglish
Published Spain Actas Españolas de Psiquiatría 01.01.2022
Subjects
Ataxin-10
DNA Repeat Expansion
Female
Humans
Letter to Editor
Mexico
Spinocerebellar Ataxias - genetics
Suicidal Ideation
Mexico
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Summary: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.
ISSN:1139-9287
1578-2735