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

Date
2014-02-01Author
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
Lima, Maria Angelica de Faria Domingues de
Godeiro Junior, Clecio de Oliveira
Santana-da-Silva, Luiz Carlos
Toralles, Maria Betânia Pereira
Santos, Silvana
Van der Linden, Helio
Wanderley, Hector Yuri
Medeiros, Paula Frassineti Vanconcelos de
Pereira, Eliana Ternes
Ribeiro, Erlane
Saraiva-Pereira, Maria Luiza
Jardim, Laura Bannach
Rede Neurogenetica
Type
ArtigoISSN
1473-4222Is part of
CerebellumDOI
10.1007/s12311-013-0510-yMetadata
Show full item recordAbstract
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.
Citation
Cerebellum. New York: Springer, v. 13, n. 1, p. 17-28, 2014.Sponsorship
FAPERGSConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
INAGEMP
FIPE-HCPA
Collections
- EPM - Artigos [17701]