Galecio-Castillo Milagros, Gutierrez-Arratia Jesus, Abad-Murillo Alonso, Sarapura-Castro Elison, Araujo-Aliaga Ismael, Saldarriaga-Mayo Ana, Illanes-Manrique Maryenela, Cornejo-Olivas Mario
Neurogenetics Working Group, Universidad Cientifica del Sur, Carretera Panamericana Sur Km. 19, Villa El Salvador, Lima, Perú.
Neurology Department, University of Iowa Health Care, Iowa City, IA, USA.
Cerebellum. 2025 Mar 26;24(3):75. doi: 10.1007/s12311-025-01826-x.
The Spinocerebellar Ataxias (SCAs) are a group of autosomal dominant neurodegenerative disorders characterized by progressive cerebellar ataxia, affecting motor coordination. SCAs are reported globally with large geographical and ethnic differences. This systematic review and meta-analysis aimed to update the frequency, and geographic distribution of SCAs in Latin America, including recently identified SCAs like SCA27B. We conducted a systematic search in PubMed, Scopus, LILACS, SciELO, and Web of Science databases, including studies published from inception to January 2025. We included 27 studies for the systematic review and 18 studies for the meta-analysis that met the inclusion criteria, representing a total of 5859 participants across eleven countries. Our meta-analysis revealed that about 50% (95% CI 26-74%) of hereditary ataxias in Latin America were confirmed to have a genetic diagnosis of SCA. The included participants with a known SCA have the following proportions: MJD/SCA3 (15%), SCA2 (11%), SCA7 (4%), SCA10 (3%), and SCA1 (3%). Geographic distributions were notable, MJD/SCA3 in Brazil, SCA2 in Cuba, Argentina and Mexico, SCA10 predominating in Peru, and SCA7 in Venezuela. Recently identified SCA types, like SCA27B and one case of SCA4, were identified in Brazil. In 22 countries there are no published studies on the epidemiology of SCAs. The distribution of SCAs in Latin America reflects the influence of historical migrations, founder effects, and ancestries, emphasizing regional heterogeneity. Our findings underscore the critical need for further epidemiological studies, particularly in understudied countries in the region.
脊髓小脑共济失调（SCAs）是一组常染色体显性神经退行性疾病，其特征为进行性小脑共济失调，影响运动协调。SCAs在全球均有报道，存在较大的地理和种族差异。本系统评价和荟萃分析旨在更新拉丁美洲SCAs的发病率及地理分布情况，包括最近发现的SCA27B等SCAs类型。我们在PubMed、Scopus、LILACS、SciELO和Web of Science数据库中进行了系统检索，纳入了从数据库建立至2025年1月发表的研究。我们纳入了27项研究进行系统评价，18项研究进行荟萃分析，这些研究均符合纳入标准，涉及11个国家的5859名参与者。我们的荟萃分析显示，拉丁美洲约50%（95%置信区间26 - 74%）的遗传性共济失调被确诊为SCA基因诊断。纳入的已知SCA参与者比例如下：马查多-约瑟夫病/脊髓小脑共济失调3型（MJD/SCA3，15%）、脊髓小脑共济失调2型（SCA2，11%）、脊髓小脑共济失调7型（SCA7，4%）、脊髓小脑共济失调10型（SCA10，3%）和脊髓小脑共济失调1型（SCA1，3%）。地理分布显著，巴西以MJD/SCA3为主，古巴、阿根廷和墨西哥以SCA2为主，秘鲁以SCA10为主，委内瑞拉以SCA7为主。最近发现的SCA类型，如SCA27B和1例SCA4，在巴西被发现。在22个国家没有关于SCAs流行病学的发表研究。拉丁美洲SCAs的分布反映了历史移民、奠基者效应和祖先的影响，强调了区域异质性。我们的研究结果强调了进一步开展流行病学研究的迫切需求，特别是在该地区研究较少的国家。
