Spinocerebellar Ataxias in Brazil-Frequencies and Modulating Effects of Related Genes

Spinocerebellar Ataxias in Brazil-Frequencies and Modulating Effects of Related Genes

Author Castilhos, Raphael Machado de Google Scholar
Furtado, Gabriel Vasata Google Scholar
Gheno, Tailise Conte Google Scholar
Schaeffer, Paola Google Scholar
Russo, Aline Google Scholar
Barsottini, Orlando Graziani Povoas Autor UNIFESP Google Scholar
Pedroso, Jose Luiz Autor UNIFESP Google Scholar
Salarini, Diego Z. Google Scholar
Vargas, Fernando Regla Google Scholar
Faria Domingues de Lima, Maria Angelica de Google Scholar
Godeiro Junior, Clecio de Oliveira Google Scholar
Santana-da-Silva, Luiz Carlos Google Scholar
Pereira Toralles, Maria Betania Google Scholar
Santos, Silvana Google Scholar
Van der Linden, Helio Google Scholar
Wanderley, Hector Yuri Google Scholar
Vanconcelos de Medeiros, Paula Frassineti Google Scholar
Pereira, Eliana Ternes Google Scholar
Ribeiro, Erlane Google Scholar
Saraiva-Pereira, Maria Luiza Google Scholar
Jardim, Laura Bannach Google Scholar
Rede Neurogenetica Google Scholar
Institution Hosp Clin Porto Alegre
Universidade Federal de São Paulo (UNIFESP)
Disciplina Neurol Santa Casa São Paulo
Univ Fed Estado Rio de Janeiro
Universidade Federal do Rio de Janeiro (UFRJ)
Inst Nacl Canc
Univ Fed Rio Grande do Norte
Fed Univ Para
Universidade Federal da Bahia (UFBA)
Univ Estadual Paraiba
Ctr Reabilitacao Dr Henrique Santillo
APAE Vitoria
Univ Fed Campina Grande
Universidade Federal de Santa Catarina (UFSC)
Assoc Cearense Doencas Genet
Univ Fed Rio Grande do Sul
Inst Nacl Genet Med Populac INAGEMP
Abstract 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 samples were collected. Capillary electrophoresis was performed to detect CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17, and DRPLA associated genes, and a repeat primed PCR was used to detect ATTCT expansions at SCA10 gene. Five hundred forty-four patients (359 families) were included. There were 214 SCA3/MJD families (59.6 %), 28 SCA2 (7.8 %), 20 SCA7 (5.6 %), 15 SCA1 (4.2 %), 12 SCA10 (3.3 %), 5 SCA6 (1.4 %), and 65 families without a molecular diagnosis (18.1 %). Divergent rates of SCA3/MJD, SCA2, and SCA7 were seen in regions with different ethnic backgrounds. 64.7 % of our SCA10 patients presented seizures. Among SCA2 patients, longer ATXN3 CAG alleles were associated with earlier ages at onset (p<0.036, linear regression). A portrait of SCAs in Brazil was obtained, where variation in frequencies seemed to parallel ethnic differences. New potential interactions between some SCA-related genes were presented.
Keywords Spinocerebellar ataxias
Modifier genes
Language English
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Date 2014-02-01
Published in Cerebellum. New York: Springer, v. 13, n. 1, p. 17-28, 2014.
ISSN 1473-4222 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 17-28
Origin http://dx.doi.org/10.1007/s12311-013-0510-y
Access rights Closed access
Type Article
Web of Science ID WOS:000332156100003
URI http://repositorio.unifesp.br/handle/11600/37366

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