非典型帕金森综合征的特征及诊治进展

doi:10.16150/j.1671-2870.2026.02.003

摘要/Abstract

摘要：

帕金森综合征（Parkinson syndrome, PDS）是一组以运动迟缓、肌强直、静止性震颤和姿势不稳为核心表现的神经系统综合征，主要包括原发性帕金森病（Parkinson's disease, PD）、非典型帕金森综合征（atypical Parkinson syndromes, APS）以及继发性帕金森综合征等类型。非典型帕金森综合征（atypical Parkinson syndromes，APS）是一组以帕金森样运动障碍为核心表现，但在病理机制、临床特征、影像学表现、药物反应及预后方面与典型帕金森病显著不同的神经退行性疾病，主要包括多系统萎缩、路易体痴呆、进行性核上性麻痹和皮质基底节变性。近年来，随着诊断标准的不断更新以及多模态影像学和神经病理研究的深入，不同APS亚型在临床表型和疾病谱系中的定位逐渐清晰。治疗方面，APS目前仍以对症和支持治疗为主，针对α突触核蛋白和tau异常聚焦过程的疾病修饰治疗、干细胞治疗等新策略正在探索之中。本文系统综述了APS各亚型的临床及影像学特征、诊断标准演变和治疗进展，旨在为临床早期识别和规范化管理提供参考。

关键词: 非典型帕金森综合征, 多系统萎缩, 路易体痴呆, 进行性核上性麻痹, 皮质基底节变性

Abstract:

Parkinson syndrome (PDS) is a group of neurological syndromes characterized by bradykinesia, rigidity, resting tremor, and postural instability as core manifestations, mainly including Parkinson's disease (PD), atypical Parkinson syndromes (APSs), and secondary Parkinson syndromes. APSs are a group of neurodegenerative diseases characterized by parkinsonian motor disorders as core manifestations, but they differ significantly from typical Parkinson's disease in terms of pathological mechanisms, clinical features, imaging findings, drug responses, and prognosis. They mainly include multiple system atrophy, dementia with Lewy bodies, progressive supranuclear palsy, and corticobasal degeneration. In recent years, with the continuous updating of diagnostic criteria and the in-depth research on multimodal imaging and neuropathology, the positioning of different APS subtypes in clinical phenotypes and disease spectra has gradually become clear. In terms of treatment, APSs currently still rely primarily on symptomatic and supportive therapies. New strategies, including disease-modifying therapies targeting abnormal aggregation of α-synuclein and tau protein, as well as stem cell therapy, are being explored. This article systematically reviews the clinical and imaging features, evolution of diagnostic criteria, and treatment progress of each subtype of APSs, aiming to provide a reference for early clinical identification and standardized management.

Key words: Atypical Parkinson syndromes, Multiple system atrophy, Dementia with Lewy bodies, Progressive supranuclear palsy, Corticobasal degeneration

中图分类号:

R455
R742

张贝, 关爱, 张小钰, 李宛霖, 唐浏丰, 赵振博, 王华龙. 非典型帕金森综合征的特征及诊治进展[J]. 诊断学理论与实践, 2026, 25(02): 131-140.

ZHANG Bei, GUAN Ai, ZHANG Xiaoyu, LI Wanlin, TANG Liufeng, ZHAO Zhenbo, WANG Hualong. Features and advances in diagnosis and treatment of atypical Parkinson syndromes[J]. Journal of Diagnostics Concepts & Practice, 2026, 25(02): 131-140.

图/表 6

图1

表1

APS各亚型的关键特征比较

亚型	主要病理蛋白	核心临床特征	影像学特征（代表性）	诊断标准要点	治疗要点
MSA	α突触核蛋白（少突胶质细胞；主要累及纹状体-黑质、小脑-脑桥-橄榄及自主神经中枢）	早期自主神经功能障碍（直立性低血压、泌尿生殖功能障碍），帕金森样症状或小脑共济失调	MRI：桥脑“十字征”、壳核边缘征。FDG-PET：纹状体/小脑低代谢	四级诊断：神经病理确诊、临床确诊、临床很可能、前驱可能。临床确诊需满足散发、进展性、成年起病（>30岁）的基本特征，同时具有核心临床表现，至少存在2项支持性临床表现（包括运动特征如快速进展、姿势不稳、吞咽困难、巴宾斯基征等，以及非运动特征如喘鸣、手足发冷、病理性哭笑等），至少存在1项MRI标志，不存在排除性的临床表现	以自主神经症状管理为核心，运动症状对左旋多巴反应有限，重视康复支持
DLB	α突触核蛋白（神经元；以大脑皮层和边缘系统为主）	波动性认知障碍、视幻觉、帕金森样症状、快速眼动睡眠行为障碍	DAT-SPECT/PET：纹状体摄取下降。FDG-PET：枕叶低代谢伴“扣带回岛征”。¹²³I-MIBG：心肌摄取降低	二级诊断：很可能DLB，可能的DLB。很可能的DLB需满足≥2项核心特征，或1项核心+1项指示性生物标志物。可能的DLB需仅具有1个核心特征，或者1个或多个提示性生物标志物阳性	首选胆碱酯酶抑制剂改善认知与精神症状，慎用抗精神病药物
PSP	4R-tau（以中脑、基底节等深部结构为主）	垂直性核上性眼肌麻痹，早期姿势不稳和跌倒，中轴性强直	MRI：中脑萎缩，“蜂鸟征”，中脑-脑桥比值降低。FDG-PET：额叶、丘脑低代谢	四级诊断：确诊PSP，很可能PSP，可能PSP，提示PSP。基于眼动障碍、姿势不稳、运动不能、认知障碍四大功能域的组合进行诊断，并纳入了8个临床亚型	以对症和康复治疗为主，抗帕金森药物尝试，重在防跌倒管理
CBD	4R-tau（主要累及额顶叶皮层及皮层下结构，呈不对称分布）	非对称性运动障碍，显著皮层征（失用、异己肢、皮质感觉障碍）	MRI：额-顶叶不对称萎缩。FDG-PET：对应皮层低代谢	三级诊断：病理确诊CBD、很可能CBD、可能CBD 核心在于区分病理CBD与临床CBS。诊断基于四大临床表型：经典型CBS、额叶行为空间综合征、非流利性原发性进行性失语及进行性核上性麻痹综合征	对症治疗为主，肉毒毒素缓解局灶性肌张力障碍，强调多学科康复

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