帕金森病生物标志物研究进展：从分子病理到精准诊断

李想; 陈虹霖; 汪旭; 胡玉鹤; 杨兆菲; 魏敏

doi:10.1631/jzus.B2500789

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Review | Updated：2026-07-29

帕金森病生物标志物研究进展：从分子病理到精准诊断
Advances in biomarkers for Parkinson’s disease: from molecular pathology to precision diagnostics
浙江大学学报（英文版）（B辑：生物医学和生物技术） 2026年27卷第7期页码：736-760
Affiliations：

Key Laboratory of Liaoning Province for Research on the Pathogenic Mechanisms of Neurological Diseases, the First Affiliated Hospital, Dalian Medical University, Dalian 116021, China
Funds：

the National Basic Research Program of China(82101513);the Natural Science Foundation of Liaoning Province(2019-ZD-0943)
DOI：10.1631/jzus.B2500789
中图分类号：
CSTR：
收稿：2025-12-01，

修回：2026-03-18，

网络首发：2026-07-29，

纸质出版：2026-07-15
Accepted：

李想,陈虹霖,汪旭等.帕金森病生物标志物研究进展：从分子病理到精准诊断[J].浙江大学学报（英文版）（B辑：生物医学和生物技术）,2026,27(07):736-760.

Xiang LI, Honglin CHEN, Xu WANG, et al. Advances in biomarkers for Parkinson’s disease: from molecular pathology to precision diagnostics[J]. Journal of Zhejiang University-SCIENCE B, 2026, 27(7): 736-760.
李想,陈虹霖,汪旭等.帕金森病生物标志物研究进展：从分子病理到精准诊断[J].浙江大学学报（英文版）（B辑：生物医学和生物技术）,2026,27(07):736-760. DOI： 10.1631/jzus.B2500789.

Xiang LI, Honglin CHEN, Xu WANG, et al. Advances in biomarkers for Parkinson’s disease: from molecular pathology to precision diagnostics[J]. Journal of Zhejiang University-SCIENCE B, 2026, 27(7): 736-760. DOI： 10.1631/jzus.B2500789.

摘要

帕金森病（PD）作为第二大常见神经退行性疾病，其在早期诊断、精准分型和预后评估方面仍面临重大挑战。近年来，生物标志物研究领域正经历从静态浓度测量向功能活性检测的范式转变。其中，最具革命性的突破是α-突触核蛋白种子扩增试验（α-Syn-SAA），该方法能够超灵敏且特异地识别临床期及前驱期病理性α-Syn，为早期干预提供了前所未有的时间窗口。此外，针对神经丝轻链（NfL）、阿尔茨海默病相关标志物、遗传生物标志物以及基于外周样本（如血液、唾液、皮肤）等的检测技术也取得了实质性进展。多种前沿技术的综合应用，如实时震颤诱导转化（RT-QuIC）、高分辨率质谱和高场强磁共振成像（MRI），正推动该领域迈入一个以病理活性为核心、多组学整合以及无创/微创为导向的新阶段。本综述系统阐述了PD生物标志物的最新研究进展，重点关注基于病理生理机制的核心标志物，并深入探讨了多组学与人工智能（AI）模型在提升诊断、亚型分型及预后准确性方面的巨大潜力，最后展望了生物标志物在推动PD精准医学发展中的关键作用及未来发展方向。

Abstract

Parkinson’s disease (PD) is the second most common neurodegenerative disorder

and continues to present significant challenges in early diagnosis

precise subtyping

and prognosis assessment. In recent years

the field of biomarker research has undergone a profound paradigm shift from static concentration measurements to functional activity detection. The most revolutionary breakthrough is the α-synuclein seed amplification assay (α-Syn-SAA)

which enables ultrasensitive and specific detection of pathological α-Syn in both clinical and prodromal stages

thus providing an unprecedented window for early intervention. Substantial progress has also been made in the development of biomarkers such as neurofilament light chain (NfL)

Alzheimer’s disease-related biomarkers

and genetic biomarkers

as well as in detection technologies based on peripheral samples. The integrated application of cutting-edge technologies

such as real-time quaking-induced conversion (RT-QuIC)

high-resolution mass spectrometry

and high-field magnetic resonance imaging (MRI)

is advancing the field into a new stage characterized by a focus on pathological activity

multi-omics integration

and non- or minimally invasive approaches. In this review

we explore recent advances in PD biomarkers

focusing on core pathophysiological markers. We examine the potential of multi-omics and artificial intelligence (AI) to enhance diagnostic

subtyping

and prognostic accuracy

while also outlining the pivotal role and future directions of biomarkers in advancing precision medicine for PD.

关键词

Keywords

references

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