Jellinger Kurt A
Institute of Clinical Neurobiology, Alberichgasse 5/13, Vienna, A-1150, Austria.
J Neural Transm (Vienna). 2025 Jun 16. doi: 10.1007/s00702-025-02972-6.
A combination of pathological alterations such as vascular lesions and multiple protein depositions is common in most neurodegenerative diseases, however, the frequency of comorbid pathologies in multiple system atrophy (MSA) and their clinical relevance are poorly understood. Recent studies reported that up to 40% of MSA patients have significant co-existing pathologies, the number of which shows positive correlations with age at onset or death, while according to others, up to 65% of MSA patients suffer from multimorbidities. Co-existent pathologies include progressive supranuclear palsy, Alzheimer-related neuropathological changes (ADNC), including β-amyloid predominant forms, cerebral amyloid angiopathy, Lewy body disorders, and TDP-43 pathology, while clinical studies emphasized the burden of genitourinary and other comorbidities. Although MSA is considered a sporadic disorder, pedigrees with neuropathologically confirmed combinations of MSA and Parkinson disease have been described, the genetic risk factors of which warrant further elucidation. While some described minimal clinical impact of comorbid pathologies in MSA, according to others, comorbidities represent a substantial burden for patients and caregivers. Emerging biomarkers in clinical practice will allow the recognition of these comorbidities, potentially leading to a differential therapeutic response.
在大多数神经退行性疾病中,血管病变和多种蛋白质沉积等病理改变的组合很常见,然而,多系统萎缩(MSA)中共存病理的发生率及其临床相关性却知之甚少。最近的研究报告称,高达40%的MSA患者有显著的共存病理,其数量与发病或死亡年龄呈正相关,而据其他研究,高达65%的MSA患者患有多种疾病。共存病理包括进行性核上性麻痹、阿尔茨海默病相关神经病理改变(ADNC),包括β-淀粉样蛋白为主的形式、脑淀粉样血管病、路易体疾病和TDP-43病理,而临床研究强调了泌尿生殖系统和其他合并症的负担。尽管MSA被认为是一种散发性疾病,但已经描述了神经病理学证实的MSA与帕金森病组合的家系,其遗传风险因素有待进一步阐明。虽然一些研究描述了MSA中共存病理的临床影响极小,但据其他研究,合并症对患者和护理人员来说是一个沉重的负担。临床实践中出现的生物标志物将有助于识别这些合并症,可能导致不同的治疗反应。