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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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.
AbstractList 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.
Author Moran-Moguel, María Cristina
Castañeda-Cisneros, Gema
Garcia-Cruz, Diana
Sánchez-Corona, José
Jiménez-Gil, Javier
Volpini-Bertran, Víctor
Gutiérrez-Rubio, Susan A
Ramirez-Garcia, Sergio A
AuthorAffiliation 2 Centro de Investigación Biomédica de Occidente, CMNO-IMSS, División de Medicina Molecular , Jalisco , México
5 Universidad de Guadalajara, Departamento de Fisiología CUCS , Jalisco , México
4 Departamento de Disciplinas Filosófico, Metodológicas e Instrumentales, CUCS, Universidad de Guadalajara Jalisco , México
1 Instituto de Nutrición de la Universidad de la Sierra Sur, SUNEO , Oaxaca , México
7 Universidad de Guadalajara, Departamento Biología Molecular y Genómica, CUCS, Instituto de Genética Humana «Enrique Corona Rivera» , Jalisco , México
3 Institut d>Investigació Biomédica de Bellvitge - IDIBELL, Centro de Diagnóstico Genético Molecular , Barcelona , España
6 División de Neurocirugía, UMAE Hospital de Especialidades, CMNO-IMSS , Guadalajara, Jalisco , México
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Snippet Spinocerebellar ataxia type 10 (SCA10) is characteri- zed by ataxia, psychiatric disorders convulsions, and locus at 22q13.311. It is caused by expansions...
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StartPage 58
SubjectTerms Ataxin-10
DNA Repeat Expansion
Female
Humans
Letter to Editor
Mexico
Spinocerebellar Ataxias - genetics
Suicidal Ideation
Title A FEMALE CASE OF SPINOCEREBELLAR ATAXIA TYPE 10 WITH SUICIDAL BEHAVIOR AND ENDOCRINPATHIES ASSOCIATED WITH A MASSIVE EXPANSION (ATTCT) OF THE GENE ATXN10
URI https://www.ncbi.nlm.nih.gov/pubmed/35103298
https://pubmed.ncbi.nlm.nih.gov/PMC10803836
Volume 50
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