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Title: Spinocerebellar Ataxias in Brazil-Frequencies and Modulating Effects of Related Genes
Authors: Castilhos, Raphael Machado de
Furtado, Gabriel Vasata
Gheno, Tailise Conte
Schaeffer, Paola
Russo, Aline
Barsottini, Orlando Graziani Povoas [UNIFESP]
Pedroso, Jose Luiz [UNIFESP]
Salarini, Diego Z.
Vargas, Fernando Regla
Faria Domingues de Lima, Maria Angelica de
Godeiro Junior, Clecio de Oliveira
Santana-da-Silva, Luiz Carlos
Pereira Toralles, Maria Betania
Santos, Silvana
Van der Linden, Helio
Wanderley, Hector Yuri
Vanconcelos de Medeiros, Paula Frassineti
Pereira, Eliana Ternes
Ribeiro, Erlane
Saraiva-Pereira, Maria Luiza
Jardim, Laura Bannach
Rede Neurogenetica
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
Keywords: Spinocerebellar ataxias
Modifier genes
Issue Date: 1-Feb-2014
Publisher: Springer
Citation: Cerebellum. New York: Springer, v. 13, n. 1, p. 17-28, 2014.
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.
ISSN: 1473-4222
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Appears in Collections:Artigo

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