Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil

Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil

Author Braga-Neto, Pedro Google Scholar
Pedroso, Jose Luiz Autor UNIFESP Google Scholar
Furtado, Gabriel Vasata Google Scholar
Gheno, Tailise Conte Google Scholar
Saraiva-Pereira, Maria Luiza Google Scholar
Jardim, Laura Bannach Google Scholar
Barsottini, Orlando G. P. Autor UNIFESP Google Scholar
Abstract Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was 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.
Keywords Dentatorubro-pallidoluysian atrophy
Polyglutamine disorders
Spinocerebellar ataxias
Language English
Sponsor FAPERGS-Fundação doAmparo a Pesquisa do Rio Grande do Sul
FIPEHCPA-Fundo de Incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre
INAGEMP-Instituto Nacional de Genetica Medica Populacional
CNPq-Conselho Nacional de Desenvolvimento Científico e Tecnológico
Grant number FAPERGS: 0700832 EDITAL PPSUS FAPERGS 006/2006
Date 2017
Published in Cerebellum. New York, v. 16, n. 4, p. 812-816, 2017.
ISSN 1473-4222 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 812-816
Access rights Closed access
Type Article
Web of Science ID WOS:000405033000008

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