摘要：

帕金森病是一种具有高度异质性的神经系统变性疾病，长期以来主要依赖临床症状进行诊断与分型，限制了对疾病的早期识别和疾病修饰治疗的研发。随着生物学标志物和神经影像学技术的发展，基于病理学机制的帕金森病生物学定义逐渐形成，其中以SynNeurGe和神经元α-突触核蛋白病综合分期系统最具代表性，两种框架均以α-突触核蛋白病理、多巴胺能神经元变性及遗传因素为核心，突破了以症状为中心的诊断范式，为早期诊断、精准分层和疾病修饰治疗临床试验提供新的研究模式。

关键词: 帕金森病, 突触核蛋白病, SynNeurGe（非MeSH词）, NSD-ISS（非MeSH词）, 生物标记, 脑脊髓液, 正电子发射断层显像术, 基因, 综述

Abstract:

Parkinson's disease is a highly heterogeneous neurodegenerative disorder that has traditionally been diagnosed and classified based on clinical symptoms, which has limited early disease identification and the development of disease modifying therapy (DMT). In recent years, advance in biomarker research and neuroimaging techniques have driven the emergence of biologically based definitions of Parkinson's disease, exemplified by the SynNeurGe and the neuronal α-synucleinopathy integrated staging system (NSD-ISS) framework. Both frameworks emphasize α-synuclein (α-Syn) pathology, nigrostriatal dopaminergic neurodegeneration, and genetic factors, representing a shift beyond symptom-centered diagnostic paradigms toward mechanism-driven research approaches. These biologically grounded frameworks provide new opportunities for early diagnosis, precise disease stratification, and enrichment strategies in DMT clinical trials.

Key words: Parkinson disease, Synucleinopathies, SynNeurGe (not in MeSH), NSD-ISS (not in MeSH), Biomarkers, Cerebrospinal fluid, Positron-emission tomography, Genes, Review

中图分类号: 

• R741