Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance

  • Mario Cornejo-OlivasEmail author
  • Miguel Inca-Martinez
  • Raphael Machado Castilhos
  • Gabriel Vasata Furtado
  • Eduardo Preusser Mattos
  • Giovana Bavia Bampi
  • Sandra Leistner-Segal
  • Victoria Marca
  • Pilar Mazzetti
  • Maria Luiza Saraiva-Pereira
  • Laura Bannach Jardim
  • on behalf of Rede Neurogenetica
Original Paper


Relative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar ataxias (SCA) due to (CAG)n and to (ATTCT)n expansions, as well as Friedreich ataxia (FRDA), among cases series of ataxic individuals from Peru. Among ataxic index cases from 104 families (38 of them with and 66 without autosomal dominant pattern of inheritance), we identified 22 SCA10, 8 SCA2, 3 SCA6, 2 SCA3, 2 SCA7, 1 SCA1, and 9 FRDA cases (or families). SCA10 was by far the most frequent one. Findings in SCA10 and FRDA families were of note. Affected genitors were not detected in 7 out of 22 SCA10 nuclear families; then overall maximal penetrance of SCA10 was estimated as 85%; in multiplex families, penetrance was 94%. Two out of nine FRDA cases carried only one allele with a GAA expansion. SCA10 was the most frequent hereditary ataxia in Peru. Our data suggested that ATTCT expansions at ATXN10 might not be fully penetrant and/or instability between generations might frequently cross the limits between non-penetrant and penetrant lengths. A unique distribution of inherited ataxias in Peru requires specific screening panels, considering SCA10 as first line of local diagnosis guidelines.


CAG repeats Friedreich ataxia Inherited ataxias Penetrance Peru Spinocerebellar ataxia 



Authors would like to thank patients and families affected from inherited ataxias that kindly contributed to research on ataxias in Peruvian population. We would also thank Diego Veliz-Otani for critical review of the manuscript. We are grateful to RIBERMOV “Red Iberoamericana Multidisciplinar para el Estudio de los Trastornos de Movimiento” for providing the initial environment for collaborative research studies, as this one, among Latin Americans.

Funding Information

EPM, GVF, GBB, SLS, MLSP, and LBJ were supported by the National Council for Research and Development (CNPq), Brazil. LBJ received grants from Fundo de Incentivo à Pesquisa do Hospital de Clínicas de Porto Alegre (FIPE 2006-0384) and Pesquisa para o SUS/Fundo de Apoio à Pesquisa do Rio Grande do Sul, Brazil (PPSUS-FAPERGS, PROCESS 07-00832), for performing the laboratory procedures. MCO, MIM, VM, and PM are partially supported by research funds provided by Instituto Nacional de Ciencias Neurológicas.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

12311_2019_1098_MOESM1_ESM.docx (1.5 mb)
ESM 1 (DOCX 1544 kb)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2020
corrected publication 2020

Authors and Affiliations

  • Mario Cornejo-Olivas
    • 1
    • 2
    Email author
  • Miguel Inca-Martinez
    • 1
    • 3
  • Raphael Machado Castilhos
    • 4
    • 5
  • Gabriel Vasata Furtado
    • 4
    • 6
  • Eduardo Preusser Mattos
    • 4
    • 6
  • Giovana Bavia Bampi
    • 4
    • 6
  • Sandra Leistner-Segal
    • 7
  • Victoria Marca
    • 1
  • Pilar Mazzetti
    • 1
  • Maria Luiza Saraiva-Pereira
    • 4
    • 6
    • 7
    • 8
    • 10
  • Laura Bannach Jardim
    • 4
    • 6
    • 7
    • 9
    • 10
  • on behalf of Rede Neurogenetica
  1. 1.Neurogenetics Research CenterInstituto Nacional de Ciencias NeurológicasLimaPeru
  2. 2.Center for Global HealthUniversidad Peruana Cayetano HerediaLimaPeru
  3. 3.Lerner Research Institute, Genomic Medicine, Cleveland Clinic FoundationClevelandUSA
  4. 4.Programa de Pós-Graduação em Genética e Biologia MolecularUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  5. 5.Serviço de NeurologiaHospital de Clínicas de Porto AlegrePorto AlegreBrazil
  6. 6.Laboratório de Identificação GenéticaHospital de Clínicas de Porto AlegrePorto AlegreBrazil
  7. 7.Serviço de Genética MédicaHospital de Clínicas de Porto AlegrePorto AlegreBrazil
  8. 8.Departamento de BioquímicaUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  9. 9.Departamento de Medicina InternaUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  10. 10.Instituto de Genética Médica Populacional (INAGEMP)Porto AlegreBrazil

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