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Review
. 2019 Aug 16;6(7):531-540.
doi: 10.1002/mdc3.12822. eCollection 2019 Sep.

The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

Hélio A G Teive  1   2 , Alex T Meira  1 , Carlos Henrique F Camargo  2 , Renato P Munhoz  3
Affiliations
Review

The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

Hélio A G Teive et al. Mov Disord Clin Pract. .

Abstract

Background: The frequency and presentation of each of the most common forms of spinocerebellar ataxias (SCAs) varies widely. In the case of the Americas, this diversity is particularly dynamic given additional social, demographic, and cultural characteristics.

Objective: To describe the regional prevalence and clinical phenotypes of SCAs throughout the continent.

Methods: A literature search was performed in both MEDLINE and LILACS databases. The research was broadened to include the screening of reference lists of systematic review articles for additional studies. Investigations dating from the earliest available through 2019. Only studies in English, Portuguese, and Spanish were included. We analyzed publications with genetically confirmed cases only, ranging from robust samples with epidemiological data to case reports and case series from each country or regions.

Results: Overall, SCA3 is the most common form in the continent. Region-specific prevalence and ranking of the common forms vary. On the other hand, region-specific phenotypic variations were not consistently found based on the available literature analyzed, with the exception of the absence of epilepsy in SCA10 consistently described in a particular cluster of cases in South Brazil.

Conclusion: Systematic, multinational studies analyzing in detail the true frequencies of SCAs across the Americas as well as distinct clinical signs and clues of each form would be ideal to look for these potential variations.

Keywords: SCAs; autosomal dominant cerebellar ataxias; hereditary ataxias; spinocerebellar ataxias.

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Figures

Figure 1
Figure 1
Inclusion of articles by Preferred Reporting Items for Systematic Reviews and Meta‐Analyses 2009 flow diagram.14
Figure 2
Figure 2
Most frequent SCAs in the Americas. Drawn from data in Table 3 by one of the authors (C.H.F.C.). SCA, spinocerebellar ataxia.
Figure 3
Figure 3
Spinocerebellar ataxia type 3–“bulging eyes.” From a personal collection (H.T.), with appropriate approvals.
See this image and copyright information in PMC

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