Spinocerebellar Ataxias in Brazil—Frequencies and Modulating Effects of Related Genes
| Autor: | Luiz Carlos Santana-da-Silva, Orlando Graziani Povoas Barsottini, Erlane Marques Ribeiro, Paola da Silva Schaeffer, Silvana Santos, Helio van der Linden, Clecio Godeiro, Maria Betânia Pereira Toralles, Raphael Machado de Castilhos, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Héctor Yuri Conti Wanderley, Tailise Conte Gheno, Fernando Regla Vargas, Diego Salarini, Eliana Ternes Pereira, Maria A.F.D. De Lima, Gabriel Vasata Furtado, Aline Dutra Russo, José Luiz Pedroso, Paula Frassineti Vanconcelos de Medeiros |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Adolescent DNA Mutational Analysis Nerve Tissue Proteins Biology Young Adult Seizures medicine Humans Spinocerebellar Ataxias Family Age of Onset Family history Young adult Allele Ataxin-3 Child Gene Genetics Racial Groups Nuclear Proteins Middle Aged medicine.disease Phenotype Repressor Proteins Neurology Spinocerebellar ataxia Neurology (clinical) Age of onset Trinucleotide Repeat Expansion Trinucleotide repeat expansion Brazil |
| Zdroj: | The Cerebellum. 13:17-28 |
| ISSN: | 1473-4230 1473-4222 |
| DOI: | 10.1007/s12311-013-0510-y |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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