Department of Neurology and Clinical Neuroscience Center, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
University Hospital, Olomouc, Czech Republic.
Nat Rev Neurol. 2023 Oct;19(10):599-616. doi: 10.1038/s41582-023-00866-3. Epub 2023 Sep 8.
The term 'endemic parkinsonism' refers to diseases that manifest with a dominant parkinsonian syndrome, which can be typical or atypical, and are present only in a particular geographically defined location or population. Ten phenotypes of endemic parkinsonism are currently known: three in the Western Pacific region; two in the Asian-Oceanic region; one in the Caribbean islands of Guadeloupe and Martinique; and four in Europe. Some of these disease entities seem to be disappearing over time and therefore are probably triggered by unique environmental factors. By contrast, other types persist because they are exclusively genetically determined. Given the geographical clustering and potential overlap in biological and clinical features of these exceptionally interesting diseases, this Review provides a historical reference text and offers current perspectives on each of the 10 phenotypes of endemic parkinsonism. Knowledge obtained from the study of these disease entities supports the hypothesis that both genetic and environmental factors contribute to the development of neurodegenerative diseases, not only in endemic parkinsonism but also in general. At the same time, this understanding suggests useful directions for further research in this area.
“地方流行性帕金森病”一词是指以显性帕金森综合征为表现的疾病，其可分为典型或不典型，仅存在于特定的地理区域或人群中。目前已知有十种地方流行性帕金森病表型：三种见于西太平洋地区；两种见于亚洲-大洋州地区；一种见于加勒比海的瓜德罗普岛和马提尼克岛；还有四种见于欧洲。随着时间的推移，其中一些疾病实体似乎正在消失，因此可能是由独特的环境因素引发的。相比之下，其他类型的疾病持续存在，因为它们是由独特的遗传因素决定的。鉴于这些疾病具有明显的地理聚集性和生物学及临床特征的潜在重叠性，本综述提供了一份有关这 10 种地方流行性帕金森病表型的历史参考文本，并对每种表型的当前观点进行了介绍。从这些疾病实体的研究中获得的知识支持了这样一种假设，即遗传和环境因素不仅在地方流行性帕金森病中，而且在一般的神经退行性疾病的发展中都起着作用。同时，这种认识为该领域的进一步研究提供了有益的方向。
