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

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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.

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Acknowledgement

The authors would like to thank the families who agreed to participate in this study.

Author information

Author notes

  1. Pedro Braga-Neto and José Luiz Pedroso contributed equally to this work.

Authors and Affiliations

  1. Centro de Ciências da Saúde, Universidade Estadual do Ceará, Fortaleza, Brazil

    Pedro Braga-Neto

  2. Departamento de Medicina Clinica, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, CE, Brazil

    Pedro Braga-Neto

  3. Departamento de Neurologia, Unidade de Ataxia, Universidade Federal de São Paulo, São Paulo, SP, Brazil

    José Luiz Pedroso & Orlando G. P. Barsottini

  4. Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Gabriel Vasata Furtado, Tailise Conte Gheno & Maria Luiza Saraiva-Pereira

  5. Serviço de Genética Médica e Laboratório de Identificação Genética, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-003, Brazil

    Gabriel Vasata Furtado, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira & Laura Bannach Jardim

  6. Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Maria Luiza Saraiva-Pereira & Laura Bannach Jardim

  7. Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Laura Bannach Jardim

Authors
  1. Pedro Braga-Neto
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  2. José Luiz Pedroso
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  3. Gabriel Vasata Furtado
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  4. Tailise Conte Gheno
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  5. Maria Luiza Saraiva-Pereira
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  6. Laura Bannach Jardim
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  7. Orlando G. P. Barsottini
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on Behalf of Rede Neurogenetica

Contributions

Conception or design of the work: PBN, JLP, MLSP, LBJ, OB. Acquisition, analysis, or interpretation of data for the work: PBN, JLP, GVF, TCG, MLSP, LBJ, OB.

Drafting the work or revising it critically for important intellectual content: PBN, JLP, GVF, TCG, MLSP, LBJ, OB.

Final approval of the version to be published: PBN, JLP, GVF, TCG, MLSP, LBJ, OB.

Agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved: PBN, JLP, GVF, TCG, MLSP, LBJ, OB.

Corresponding author

Correspondence to Laura Bannach Jardim.

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Conflict of Interests

The authors declare that they have no conflict of interest.

Funding

This work was supported by the following Brazilian agencies: FAPERGS—Fundação do Amparo à Pesquisa do Rio Grande do Sul—by the project 0700832 EDITAL PPSUS FAPERGS 006/2006; FIPE-HCPA—Fundo de Incentivo à Pesquisa do Hospital de Clínicas de Porto Alegre—by the Project GPPG HCPA 06–384; and by INAGEMP—Instituto Nacional de Genética Médica Populacional. PBN, MLSP, and LBJ were supported by CNPq—Conselho Nacional de Desenvolvimento Científico e Tecnológico.

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Braga-Neto, P., Pedroso, J.L., Furtado, G.V. et al. Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil. Cerebellum 16, 812–816 (2017). https://doi.org/10.1007/s12311-017-0862-9

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  • DOI: https://doi.org/10.1007/s12311-017-0862-9

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