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帕金森病的定义和诊断:德国神经病学会指南“帕金森病”。

Definition and diagnosis of Parkinson's disease: guideline "Parkinson's disease" of the German Society of Neurology.

机构信息

Department of Neurology with Friedrich Baur Institute, LMU University Hospital, Ludwig-Maximilians-University (LMU) Munich, Marchioninistr. 15, 81377, Munich, Germany.

German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.

出版信息

J Neurol. 2024 Nov;271(11):7102-7119. doi: 10.1007/s00415-024-12687-5. Epub 2024 Sep 19.

DOI:10.1007/s00415-024-12687-5
PMID:39297986
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11561062/
Abstract

BACKGROUND

Accurate definition and operational criteria for diagnosing Parkinson's disease (PD) are crucial for evidence-based, patient-centered care.

OBJECTIVE

To offer evidence-based recommendations for defining and diagnosing PD, incorporating contemporary clinical, imaging, biomarker, and genetic insights.

METHODS

The guideline development began with the steering committee establishing key PICO (patient, intervention, comparison, outcome) questions, which were refined by the coauthors. Systematic literature searches identified relevant studies, reviews, and meta-analyses. Recommendations were drafted, evaluated, optimized, and voted upon by the German Parkinson's Guideline Group.

RESULTS

Parkinson's disease (PD) is now understood to encompass a broader spectrum of etiologies than previously recognized. Advances in molecular pathogenesis, neuroimaging, and early clinical phenotypes suggest that PD is not a uniform disease entity and is often not idiopathic. This necessitates an updated framework for PD definition and diagnosis. The German Society for Neurology now endorses a broader concept of PD, incorporating both idiopathic and hereditary forms, as opposed to the previously narrower concept of "idiopathic Parkinson syndrome." The revised guidelines recommend using the 2015 Movement Disorders Society diagnostic criteria, emphasize the importance of long-term clinical follow-up for improved diagnostic accuracy, and highlight the significance of non-motor symptoms in clinical diagnosis. Specific recommendations are provided for the use of imaging and fluid biomarkers and genetic testing to support the clinical diagnosis.

CONCLUSION

The updated guidelines from the German Society for Neurology enhance diagnostic accuracy for PD, promoting optimized clinical care.

摘要

背景

准确定义和操作标准对于基于证据、以患者为中心的护理至关重要。

目的

提供基于证据的帕金森病(PD)定义和诊断建议,纳入当代临床、影像学、生物标志物和遗传学的见解。

方法

指南制定始于指导委员会确定关键的 PICO(患者、干预、比较、结局)问题,然后由共同作者进行细化。系统的文献检索确定了相关的研究、综述和荟萃分析。建议由德国帕金森病指南小组起草、评估、优化和投票。

结果

现在人们认识到,帕金森病(PD)的病因范围比以前认识的更广泛。分子发病机制、神经影像学和早期临床表型方面的进展表明,PD 不是一种单一的疾病实体,而且往往不是特发性的。这需要更新 PD 的定义和诊断框架。德国神经病学会现在支持更广泛的 PD 概念,包括特发性和遗传性形式,而不是以前更窄的“特发性帕金森综合征”概念。修订后的指南建议使用 2015 年运动障碍学会的诊断标准,强调长期临床随访对提高诊断准确性的重要性,并强调非运动症状在临床诊断中的重要性。还提供了关于使用影像学和液体生物标志物和遗传测试来支持临床诊断的具体建议。

结论

德国神经病学会的更新指南提高了 PD 的诊断准确性,促进了优化的临床护理。

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本文引用的文献

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Sleep and wakefulness disturbances in Parkinson's disease: A meta-analysis on prevalence and clinical aspects of REM sleep behavior disorder, excessive daytime sleepiness and insomnia.帕金森病中的睡眠与觉醒障碍:关于快速眼动睡眠行为障碍、日间过度嗜睡和失眠的患病率及临床特征的荟萃分析
Sleep Med Rev. 2023 Apr;68:101759. doi: 10.1016/j.smrv.2023.101759. Epub 2023 Jan 16.
2
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.拥抱单基因帕金森病:迈克尔·J·福克斯基金会全球遗传性帕金森病队列研究
Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24.
3
A postmortem study suggests a revision of the dual-hit hypothesis of Parkinson's disease.一项尸检研究表明需对帕金森病的双击假说进行修正。
NPJ Parkinsons Dis. 2022 Nov 30;8(1):166. doi: 10.1038/s41531-022-00436-2.
4
Diagnostic value of α-synuclein seeding amplification assays in α-synucleinopathies: A systematic review and meta-analysis.α-突触核蛋白种籽扩增检测在α-突触核蛋白病中的诊断价值:系统评价和荟萃分析。
Parkinsonism Relat Disord. 2022 Nov;104:99-109. doi: 10.1016/j.parkreldis.2022.10.007. Epub 2022 Oct 19.
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Association of Concurrent Olfactory Dysfunction and Probable Rapid Eye Movement Sleep Behavior Disorder with Early Parkinson's Disease Progression.嗅觉功能障碍并发可能的快速眼动睡眠行为障碍与早期帕金森病进展的关联
Mov Disord Clin Pract. 2022 Jul 22;9(7):909-919. doi: 10.1002/mdc3.13511. eCollection 2022 Oct.
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α-Synuclein Seed Amplification Assays for Diagnosing Synucleinopathies: The Way Forward.α-突触核蛋白种子扩增检测在突触核蛋白病诊断中的应用:未来之路。
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Odor identification predicts the transition of patients with isolated RBD: A retrospective study.嗅觉识别可预测孤立性快速眼动期睡眠行为障碍患者的病情转变:一项回顾性研究。
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Progressive Olfactory Impairment and Cardiac Sympathetic Denervation in REM Sleep Behavior Disorder.快速眼动睡眠行为障碍患者的进行性嗅觉障碍和心脏交感神经支配丧失。
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Does Olfactory Dysfunction Correlate with Disease Progression in Parkinson's Disease? A Systematic Review of the Current Literature.嗅觉功能障碍与帕金森病的疾病进展相关吗?对当前文献的系统综述。
Brain Sci. 2022 Apr 19;12(5):513. doi: 10.3390/brainsci12050513.
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A replication study, systematic review and meta-analysis of automated image-based diagnosis in parkinsonism.帕金森病的基于影像的自动化诊断的复制研究、系统评价和荟萃分析。
Sci Rep. 2022 Feb 17;12(1):2763. doi: 10.1038/s41598-022-06663-0.