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欧洲脊髓小脑共济失调的流行病学。

Epidemiology of Spinocerebellar Ataxias in Europe.

机构信息

ALS Center, Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.

Aging Brain and Memory Clinic, Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.

出版信息

Cerebellum. 2024 Jun;23(3):1176-1183. doi: 10.1007/s12311-023-01600-x. Epub 2023 Sep 12.

Abstract

Spinocerebellar ataxias (SCAs) are a heterogenous group of rare neurodegenerative conditions sharing an autosomal dominant pattern of inheritance. More than 40 SCAs have been genetically determined. However, a systematic review of SCA epidemiology in Europe is still missing. Here we performed a narrative review of the literature on the epidemiology of the most common SCAs in Europe. PubMed, Embase, and MEDLINE were searched from inception until 1 April 2023. All English peer-reviewed articles published were considered and then filtered by abstract examination and subsequently by full text reading. A total of 917 original articles were retrieved. According to the inclusion criteria and after reviewing references for useful papers, a total of 35 articles were included in the review. Overall, SCA3 is the most frequent spinocerebellar ataxia in Europe. Its frequency is strikingly higher in Portugal, followed by Germany, France, and Netherlands. None or few cases were described in Italy, Russia, Poland, Serbia, Finland, and Norway. SCA1 and SCA2 globally displayed similar frequencies, and are more prevalent in Italy, United Kingdom, Poland, Serbia, and France.

摘要

脊髓小脑共济失调(SCAs)是一组异质性的罕见神经退行性疾病,具有常染色体显性遗传模式。已经确定了 40 多种 SCAs。然而,欧洲 SCAs 流行病学的系统综述仍然缺失。在这里,我们对欧洲最常见的 SCAs 的流行病学文献进行了叙述性综述。从成立到 2023 年 4 月 1 日,我们在 PubMed、Embase 和 MEDLINE 上进行了搜索。所有发表的英文同行评议文章均被考虑,并通过摘要检查和随后的全文阅读进行筛选。共检索到 917 篇原始文章。根据纳入标准,并查阅有用文献的参考文献后,共有 35 篇文章纳入综述。总体而言,SCA3 是欧洲最常见的脊髓小脑共济失调。它在葡萄牙的发病率极高,其次是德国、法国和荷兰。意大利、俄罗斯、波兰、塞尔维亚、芬兰和挪威则几乎没有或没有描述。SCA1 和 SCA2 在全球的发病率相似,在意大利、英国、波兰、塞尔维亚和法国更为常见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b180/11102384/db854cd9d940/12311_2023_1600_Fig1_HTML.jpg

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