美洲脊髓小脑共济失调（SCAs）的地理多样性：一项系统综述。
The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review.
作者信息
Teive Hélio A G, Meira Alex T, Camargo Carlos Henrique F, Munhoz Renato P
机构信息
Movement Disorders Unit, Neurology Service, Internal Medicine Department Hospital de Clínicas, Federal University of Parana Curitiba Parana Brazil.
Neurological Diseases Group Graduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Parana Curitiba Parana Brazil.
出版信息
Mov Disord Clin Pract. 2019 Aug 16;6(7):531-540. doi: 10.1002/mdc3.12822. eCollection 2019 Sep.
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.
背景
每种最常见的脊髓小脑共济失调（SCA）的发病率和表现形式差异很大。在美洲地区，由于其独特的社会、人口和文化特征，这种多样性尤为显著。
目的
描述整个美洲大陆SCA的区域患病率和临床表型。
方法
在MEDLINE和LILACS数据库中进行文献检索。研究范围扩大到对系统评价文章的参考文献列表进行筛选，以获取更多研究。检索时间从可获取的最早时间到2019年。仅纳入英文、葡萄牙文和西班牙文的研究。我们仅分析了基因确诊病例的出版物，范围从具有流行病学数据的大量样本到每个国家或地区的病例报告和病例系列。
结果
总体而言，SCA3是该大陆最常见的类型。常见类型的区域特异性患病率和排名各不相同。另一方面，根据所分析的现有文献，未一致发现区域特异性表型差异，但巴西南部特定病例群中始终描述SCA10不存在癫痫发作这一情况除外。
结论
进行系统的多国研究，详细分析整个美洲SCA的真实发病率以及每种类型的独特临床体征和线索，将是寻找这些潜在差异的理想方法。
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