Jellinger Kurt A
Institute of Clinical Neurobiology, Alberichgasse 5/13, Vienna, A-1150, Austria.
J Neural Transm (Vienna). 2025 Apr 11. doi: 10.1007/s00702-025-02922-2.
While multiple sclerosis (MS) is associated with various movement disorders, in particular tremor and ataxia, its combination with parkinsonism is rare and co-occurrence of MS and Parkinson disease (PD) has been reported in only few definite cases. Theories about this co-occurrence range from coincidental to causal, but the true prevalence, basic features and causal relations between the two entities have not been systemically evaluated. Although there are cases of causal relationship between parkinsonism and MS related to demyelinating lesions affecting the dopaminergic nigrostriatal pathway, in a limited number of cases, PD (some gene-mediated) and MS may coexist as two separate diseases in the same patients. The prevalence of MS in LRRK2 PD, while rare, supports an important role for immune function in both disorders, while the role of PD-related PINK is still open. Furthermore, several common genes such as BACE2, CD69, CLC, CPA3 and DEFAs may play important roles in MS and PD, while MS and PD share iron accumulation in substantia nigra, which may be due to protein-protein interaction networks related to metal homeostasis. In view of the various pathogenic possibilities, the causal relationship of concurring MS and PD deserves critical consideration.
虽然多发性硬化症（MS）与各种运动障碍有关，尤其是震颤和共济失调，但其与帕金森综合征的合并情况较为罕见，仅在少数明确病例中报道过MS与帕金森病（PD）同时出现。关于这种同时出现的理论从巧合到因果关系都有，但这两种疾病之间的真实患病率、基本特征和因果关系尚未得到系统评估。虽然存在与影响多巴胺能黑质纹状体通路的脱髓鞘病变相关的帕金森综合征与MS之间存在因果关系的病例，但在少数情况下，PD（一些由基因介导）和MS可能作为两种独立的疾病共存于同一患者体内。LRRK2相关帕金森病中MS的患病率虽然很低，但支持免疫功能在这两种疾病中都发挥重要作用，而与PD相关的PINK的作用仍不明确。此外，一些常见基因如BACE2、CD69、CLC、CPA3和防御素（DEFAs）可能在MS和PD中发挥重要作用，而MS和PD在黑质中都存在铁蓄积，这可能归因于与金属稳态相关的蛋白质-蛋白质相互作用网络。鉴于各种致病可能性，MS和PD同时出现的因果关系值得深入探讨。
