Hiya Satomi, Maldonado-Díaz Carolina, Rohde Susan K, Gonzales Mitzi M, Canbeldek Leyla, Kulumani Mahadevan Lakshmi S, Yokoda Raquel T, Sullivan A Campbell, Parker Alicia S, White Charles L, Daoud Elena V, Flores-Almazan Victoria, Crary John F, Farrell Kurt, Walker Jamie M, Richardson Timothy E
Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Department of Pathology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
J Neuropathol Exp Neurol. 2025 Feb 21;84(3):177-194. doi: 10.1093/jnen/nlae134.
Although Alzheimer disease neuropathologic change (ADNC) is the most common pathology underlying clinical dementia, the presence of multiple comorbid neuropathologies is increasingly being recognized as a major contributor to the worldwide dementia burden. We analyzed 1051 subjects with specific combinations of isolated and mixed pathologies and conducted multivariate logistic regression analysis on a cohort of 4624 cases with mixed pathologies to systematically explore the independent cognitive contributions of each pathology. Alzheimer disease neuropathologic change and limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) were both associated with a primary clinical diagnosis of Alzheimer disease (AD) and were characterized by an amnestic dementia phenotype, while only ADNC associated with logopenic variant primary progressive aphasia (PPA). In subjects with ADNC and comorbid LATE-NC, Lewy body disease, and/or cerebrovascular disease, the clinical phenotype was usually diagnosed during life as "Probable AD." Conversely, the combination of ADNC with frontotemporal lobar degeneration with TDP-43, progressive supranuclear palsy (PSP), or corticobasal degeneration (CBD) resulted in a mixed clinical picture, with variable features of amnestic dementia, PPA subtypes, behavioral variant FTD, PSP syndrome, and CBD syndrome. These findings elucidate the cumulative effects of mixed pathologies and provide insights into interactions between neurodegenerative pathologies contributing to a variety of clinical dementia presentations.
尽管阿尔茨海默病神经病理改变(ADNC)是临床痴呆最常见的病理基础,但多种合并神经病理改变的存在日益被认为是全球痴呆负担的主要促成因素。我们分析了1051名具有孤立和混合病理特定组合的受试者,并对4624例具有混合病理的队列进行了多因素逻辑回归分析,以系统地探究每种病理的独立认知贡献。阿尔茨海默病神经病理改变和以边缘系统为主的年龄相关性TDP-43脑病神经病理改变(LATE-NC)均与阿尔茨海默病(AD)的主要临床诊断相关,并以遗忘性痴呆表型为特征,而只有ADNC与言语流畅性变异型原发性进行性失语(PPA)相关。在患有ADNC且合并LATE-NC、路易体病和/或脑血管病的受试者中,临床表型在生前通常被诊断为“可能的AD”。相反,ADNC与伴有TDP-43的额颞叶变性、进行性核上性麻痹(PSP)或皮质基底节变性(CBD)的组合导致了混合的临床症状,具有遗忘性痴呆、PPA亚型、行为变异型额颞叶痴呆、PSP综合征和CBD综合征的可变特征。这些发现阐明了混合病理的累积效应,并为导致各种临床痴呆表现的神经退行性病理之间的相互作用提供了见解。