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两百年后:帕金森病是一个单一的明确实体吗?

Two-hundred Years Later: Is Parkinson's Disease a Single Defined Entity?

作者信息

Rodríguez-Violante Mayela, Cervantes-Arriaga Amin, Fahn Stanley, Tolosa Eduardo

机构信息

Movement Disorders Clinic, National Institute of Neurology and Neurosurgery, Mexico City, Mexico, USA.

Department of Neurology, Columbia University Medical Center, New York, USA.

出版信息

Rev Invest Clin. 2017 Nov-Dec;69(6):308-313. doi: 10.24875/RIC.17002291.

Abstract

An Essay on the Shaking Palsy, by James Parkinson, was published in 1817. Later, Jean-Martin Charcot better described some of the motor features of the disease and named the condition as "La Maladie de Parkinson." As understanding about the disease progressed, aided by both clinical expertise and technological developments, the definition of what is Parkinson's disease has evolved. Motor phenotype, non-motor symptoms, monogenic mutations, genetic risk factors, disease subtyping, and data-driven clusters, among other concepts, have given rise to the hypothesis that Parkinson's disease may be not one well-defined entity but several different diseases encompassed as a levodopa-responsive Parkinsonism. This review present and discusses several of these factors and how they may support or not the notion of Parkinson's being one or more diseases. In summary, current evidence appears to be insufficient at this moment to clarify this issue. Parkinson's disease will continue to be an evolving concept over the years to come.

摘要

詹姆斯·帕金森所著的《震颤麻痹论》于1817年出版。后来,让-马丁·夏科更好地描述了该疾病的一些运动特征,并将其命名为“帕金森病”。随着借助临床专业知识和技术发展对该疾病的认识不断进步,帕金森病的定义也在演变。运动表型、非运动症状、单基因突变、遗传风险因素、疾病亚型以及数据驱动的聚类等概念,引发了这样一种假说,即帕金森病可能并非一个明确界定的单一实体,而是几种不同疾病被归为左旋多巴反应性帕金森综合征。本综述呈现并讨论了其中的几个因素,以及它们如何支持或不支持帕金森病是一种或多种疾病的观点。总之,目前的证据似乎不足以在此时澄清这个问题。在未来几年里,帕金森病仍将是一个不断演变的概念。

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