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Review
. 2020 Jun;19(3):446-458.
doi: 10.1007/s12311-020-01109-7.

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

Roberto Rodríguez-Labrada  1 , Ana Carolina Martins  2 , Jonathan J Magaña  3 , Yaimeé Vazquez-Mojena  1 , Jacqueline Medrano-Montero  1 , Juan Fernandez-Ruíz  4 , Bulmaro Cisneros  5 , Helio Teive  6 , Karen N McFarland  7 , Maria Luiza Saraiva-Pereira  2   8   9 , César M Cerecedo-Zapata  3   10 , Christopher M Gomez  11 , Tetsuo Ashizawa  12 , Luis Velázquez-Pérez  13   14 , Laura Bannach Jardim  2   8   15 ; PanAmerican Hereditary Ataxia Network
Affiliations
Review

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

Roberto Rodríguez-Labrada et al. Cerebellum. 2020 Jun.

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.

Keywords: Founder effects; Latin America and the Caribbean; MJD; Machado-Joseph disease; Prevalence; SCA10; SCA2; SCA3; SCA7; Spinocerebellar ataxia; Spinocerebellar ataxia type 10; Spinocerebellar ataxia type 2; Spinocerebellar ataxia type 3; Spinocerebellar ataxia type 7.

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Conflict of interest statement

Conflict of Interest The authors declare no conflict of interest that could be perceived as prejudicial to the impartiality of the reported research.

Figures

Fig. 1
Fig. 1
Prevalence rates of spinocerebellar ataxia clusters in Americas and the Caribbean. a The three main regions of interest in the American continents and the Caribbean. b Spinocerebellar ataxia type 2 (SCA2) in some Cuban municipalities. c Spinocerebellar ataxia type 7 (SCA7) in Southeast Mexico (Veracruz province). d Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) in South Brazil (Rio Grande do Sul state). The background color represents population’s density. Adapted from Global Human Settlement Layer (GHSL), European Commission (http://luminocity3d.org/WorldPopDen/#6/-29.688/-61.282). Consulted in August, 2019
Fig. 2
Fig. 2
Occurrences of spinocerebellar ataxia type 10 (SCA10) in the American continents, according to the literature. Adapted from Posch et al. (2018) [110]
See this image and copyright information in PMC

References

    1. Bittles AH. Consanguinity, genetic drift, and genetic diseases in populations with reduced numbers of founders. In: Speicher M, Antonarakis SE, Motulsky AG. (Eds.). Vogel and Motulsky’s human genetics. Problems and Approaches. Springer-Verlag Berlin Heidelberg, 2010, p. 507.
    1. Reich D, Patterson N, Campbell D, Tandon A, Mazieres S, Ray N, et al. Reconstructing native American population history. Nature. 2012;488(7411):370–4. - PMC - PubMed
    1. Silva WA, Bonatto SL, Holanda AJ, Ribeiro-Dos-Santos AK, Paixao BM, et al. Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America. Am J Hum Genet. 2002;71:187–92. - PMC - PubMed
    1. Moreno-Mayar JV, Vinner L, de Barros Damgaard P, de la Fuente C, Chan J, et al. Early human dispersals within the Americas. Science. 2018;362(6419):eaav2621. - PubMed
    1. Forsythe DP. Encyclopedia of Human Rights, Volume 4. Oxford University Press. 2009; p. 297. ISBN 978-0-19-533402-9.

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