Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.

doi:10.1007/s12311-013-0510-y

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Article

Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.

Cerebellum (London, England) - 1 Feb 2014

de Castilhos Raphael Machado, Furtado Gabriel Vasata, Gheno Tailise Conte, Schaeffer Paola, Russo Aline, Barsottini Orlando, Pedroso José Luiz, Salarini Diego Z, Vargas Fernando Regla, de Lima Maria Angélica de Faria Domingues, Godeiro Clécio, Santana-da-Silva Luiz Carlos, Toralles Maria Betânia Pereira, Santos Silvana, van der Linden Hélio, Wanderley Hector Yuri, de Medeiros Paula Frassineti Vanconcelos, Pereira Eliana Ternes, Ribeiro Erlane, Saraiva-Pereira Maria Luiza, Jardim Laura Bannach

Abstract excerpt

This study describes the frequency of spinocerebellar ataxias and of CAG repeats range in different geographical regions of Brazil, and explores the hypothetical role of normal CAG repeats at ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes on age at onset and on neurological findings. Patients with symptoms and family history compatible with a SCA were recruited in 11 cities of the country; clinical data and DNA...

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Identifiers

PMID: 23943520
DOI: 10.1007/s12311-013-0510-y

Genes

ATXN3
ATXN1
ATXN2
ATXN7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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