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帕金森病诊断中的挑战。

Challenges in the diagnosis of Parkinson's disease.

机构信息

Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Clínic, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.

Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Clínic, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.

出版信息

Lancet Neurol. 2021 May;20(5):385-397. doi: 10.1016/S1474-4422(21)00030-2.

Abstract

Parkinson's disease is the second most common neurodegenerative disease and its prevalence has been projected to double over the next 30 years. An accurate diagnosis of Parkinson's disease remains challenging and the characterisation of the earliest stages of the disease is ongoing. Recent developments over the past 5 years include the validation of clinical diagnostic criteria, the introduction and testing of research criteria for prodromal Parkinson's disease, and the identification of genetic subtypes and a growing number of genetic variants associated with risk of Parkinson's disease. Substantial progress has been made in the development of diagnostic biomarkers, and genetic and imaging tests are already part of routine protocols in clinical practice, while novel tissue and fluid markers are under investigation. Parkinson's disease is evolving from a clinical to a biomarker-supported diagnostic entity, for which earlier identification is possible, different subtypes with diverse prognosis are recognised, and novel disease-modifying treatments are in development.

摘要

帕金森病是第二常见的神经退行性疾病,预计在未来 30 年内其患病率将翻一番。帕金森病的准确诊断仍然具有挑战性,目前仍在对疾病的早期阶段进行特征描述。在过去 5 年中取得的最新进展包括临床诊断标准的验证、前驱期帕金森病研究标准的引入和测试,以及遗传亚型的鉴定以及越来越多与帕金森病风险相关的遗传变异。在开发诊断生物标志物方面取得了重大进展,遗传和影像学检查已经成为临床实践常规方案的一部分,而新型组织和液体标志物正在研究中。帕金森病正在从临床诊断实体向基于生物标志物的诊断实体转变,这种转变使得早期识别成为可能,不同预后的亚型得到了识别,新型疾病修饰治疗方法正在开发中。

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