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Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean

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Abstract

Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as well as to discuss characteristics of these populations. Clusters of SCAs were detected in Eastern regions of Cuba for SCA2, in South Brazil for SCA3/MJD, and in Southeast regions of Mexico for SCA7. Prevalence rates were obtained and reached 154 (municipality of Báguano, Cuba), 166 (General Câmara, Brazil), and 423 (Tlaltetela, Mexico) patients/100,000 for SCA2, SCA3/MJD, and SCA7, respectively. In contrast, the scattered families with spinocerebellar ataxia type 10 (SCA10) reported all over North and South Americas have been associated to a common Native American ancestry that may have risen in East Asia and migrated to Americas 10,000 to 20,000 years ago. The comprehensive review showed that for each of these SCAs corresponded at least the development of one study group with a large production of scientific evidence often generalizable to all carriers of these conditions. Clusters of SCA populations in the American continents and the Caribbean provide unusual opportunity to gain insights into clinical and genetic characteristics of these disorders. Furthermore, the presence of large populations of patients living close to study centers can favor the development of meaningful clinical trials, which will impact on therapies and on quality of life of SCA carriers worldwide.

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Acknowledgments

ACM, MLSP, and LBJ were supported by Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). JJM, JFR, BC, and CMCZ were supported by CONACyT (grant no. 258043). JFR was also supported by CONACYT (grant no. A1-S-10669). LVP, RRL, YVM and JMM were supported by the Cuban Ministry of Public Health.

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Author notes

  1. Roberto Rodríguez-Labrada and Ana Carolina Martins contributed equally to this work.

Authors and Affiliations

  1. Centre for the Research and Rehabilitation of Hereditary Ataxias, 80100, Holguín, Cuba

    Roberto Rodríguez-Labrada, Yaimeé Vazquez-Mojena, Jacqueline Medrano-Montero & Luis Velázquez-Pérez

  2. Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, 91540-070, Brazil

    Ana Carolina Martins, Maria Luiza Saraiva-Pereira & Laura Bannach Jardim

  3. Department of Genetics, Laboratory of Genomic Medicine, National Rehabilitation Institute (INR-LGII), 14389, Mexico City, Mexico

    Jonathan J. Magaña & César M. Cerecedo-Zapata

  4. Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autonoma de Mexico, 04510, Mexico City, Mexico

    Juan Fernandez-Ruíz

  5. Department of Genetics and Molecular Biology, Center of Research and Advanced Studies (CINVESTAV-IPN), 07360, Mexico City, Mexico

    Bulmaro Cisneros

  6. Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas Federal University of Paraná, Curitiba, PR, 80240-440, Brazil

    Helio Teive

  7. University of Florida, Gainesville, Florida, 32610, USA

    Karen N. McFarland

  8. Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, 90035-903, Brazil

    Maria Luiza Saraiva-Pereira & Laura Bannach Jardim

  9. Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, 90035-903, Brazil

    Maria Luiza Saraiva-Pereira

  10. Rehabilitation and Social Inclusion Center of Veracruz (CRIS-DIF), Xalapa, 91070, Veracruz, Mexico

    César M. Cerecedo-Zapata

  11. Department of Neurology, The University of Chicago, Chicago, 60637, USA

    Christopher M. Gomez

  12. Program of Neuroscience, Houston Methodist Research Institute, Houston, TX, 77030, USA

    Tetsuo Ashizawa

  13. Cuban Academy of Sciences, 10100, La Havana, Cuba

    Luis Velázquez-Pérez

  14. Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, 90035-903, Brazil

    Laura Bannach Jardim

Authors
  1. Roberto Rodríguez-Labrada
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  2. Ana Carolina Martins
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  3. Jonathan J. Magaña
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  14. Luis Velázquez-Pérez
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  15. Laura Bannach Jardim
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on behalf of the PanAmerican Hereditary Ataxia Network

Contributions

LVP and LBJ conceived the study; RRL, LVP, YVM, and JMM contributed to section “SCA2”; ACM, MLSP, and LBJ contributed to section “SCA3/MJD”; JJM, JFR, BC, and CMCZ contributed to section “SCA7”; TA, HT, and KNM contributed to section “SCA10”; LBJ, LVP, and CG contributed to sections “Introduction”; all authors contributed to section “Discussion”; all authors read and approved the submitted version of the manuscript.

Corresponding author

Correspondence to Luis Velázquez-Pérez.

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Rodríguez-Labrada, R., Martins, A.C., Magaña, J.J. et al. Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean. Cerebellum 19, 446–458 (2020). https://doi.org/10.1007/s12311-020-01109-7

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