Please use this identifier to cite or link to this item: http://repositorio.ufc.br/handle/riufc/25447
Type: Artigo de Periódico
Title: Dentatorubro-pallidoluysian atrophy (DRPLA) among 700 families with ataxia in Brazil
Authors: Braga-Neto, Pedro
Pedroso, José Luiz
Furtado, Gabriel Vasata
Gheno, Tailise Conte
Pereira, Maria Luiza Saraiva
Jardim, Laura Bannach
Barsottini, Orlando G. P.
Keywords: Epidemiology;Spinocerebellar ataxias
Issue Date: 2017
Publisher: Cerebellum
Citation: BRAGA-NETO, P. et al. Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil. Cerebellum, v. 16, p. 812-816, 2017.
Abstract: Abstract Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLAwas undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilian neurology and neurogenetics centers. CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA10 gene were studied. A single DRPLA case detected is reported. Proband was a 69-year-old Brazilian woman of mixed ancestry, with a late-onset pure ataxia: her alleles at the associated gene, ATN1, presented 14/52 CAG repeats. History of gait ataxia and dementia was observed in two out of six siblings but was absent in her parents. This was the single DRPLA diagnosis obtained from 700 Brazilian unrelated cases with adult-onset ataxia, 487 of them with clear autosomal dominant inheritance. DRPLA accounted for 0.14% of all adult-onset ataxia cases and for 0.2% of families with autosomal dominant inheritance. Normal CAG repeats at ATN1 had a median (range) of 14 (5–20) repeats in other 410 Brazilian chromosomes. DRPLA is quite rare in Brazilian SCA families, which is consistent with the lack of large normal alleles in our population.
URI: http://www.repositorio.ufc.br/handle/riufc/25447
ISSN: 1473-4222
Appears in Collections:DMC - Artigos publicados em revistas científicas

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