Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, Annenberg Building, 15.238, 1468 Madison Avenue, New York, NY, 10029, USA.
Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Acta Neuropathol. 2024 Mar 23;147(1):58. doi: 10.1007/s00401-024-02716-y.
Neurodegenerative pathologies such as Alzheimer disease neuropathologic change (ADNC), Lewy body disease (LBD), limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC), and cerebrovascular disease (CVD) frequently coexist, but little is known about the exact contribution of each pathology to cognitive decline and dementia in subjects with mixed pathologies. We explored the relative cognitive impact of concurrent common and rare neurodegenerative pathologies employing multivariate logistic regression analysis adjusted for age, gender, and level of education. We analyzed a cohort of 6,262 subjects from the National Alzheimer's Coordinating Center database, ranging from 0 to 6 comorbid neuropathologic findings per individual, where 95.7% of individuals had at least 1 neurodegenerative finding at autopsy and 75.5% had at least 2 neurodegenerative findings. We identified which neuropathologic entities correlate most frequently with one another and demonstrated that the total number of pathologies per individual was directly correlated with cognitive performance as assessed by Clinical Dementia Rating (CDR®) and Mini-Mental State Examination (MMSE). We show that ADNC, LBD, LATE-NC, CVD, hippocampal sclerosis, Pick disease, and FTLD-TDP significantly impact overall cognition as independent variables. More specifically, ADNC significantly affected all assessed cognitive domains, LBD affected attention, processing speed, and language, LATE-NC primarily affected tests related to logical memory and language, while CVD and other less common pathologies (including Pick disease, progressive supranuclear palsy, and corticobasal degeneration) had more variable neurocognitive effects. Additionally, ADNC, LBD, and higher numbers of comorbid neuropathologies were associated with the presence of at least one APOE ε4 allele, and ADNC and higher numbers of neuropathologies were inversely correlated with APOE ε2 alleles. Understanding the mechanisms by which individual and concomitant neuropathologies affect cognition and the degree to which each contributes is an imperative step in the development of biomarkers and disease-modifying therapeutics, particularly as these medical interventions become more targeted and personalized.
神经退行性病变,如阿尔茨海默病神经病理改变(ADNC)、路易体病(LBD)、以边缘系统为主的与年龄相关的 TDP-43 脑蛋白病(LATE-NC)和脑血管病(CVD),常共存,但对于混合病变患者中每种病理改变对认知下降和痴呆的确切贡献知之甚少。我们通过调整年龄、性别和教育水平的多变量逻辑回归分析,探讨了同时存在的常见和罕见神经退行性病变对认知的相对影响。我们分析了来自国家阿尔茨海默病协调中心数据库的 6262 名受试者的队列,每个人的共病神经病理发现数量从 0 到 6 不等,其中 95.7%的个体在尸检时有至少 1 种神经退行性发现,75.5%的个体有至少 2 种神经退行性发现。我们确定了哪些神经病理实体彼此最常相关,并表明个体的病理总数与临床痴呆评定量表(CDR®)和简易精神状态检查(MMSE)评估的认知表现直接相关。我们表明 ADNC、LBD、LATE-NC、CVD、海马硬化、匹克病和 FTLD-TDP 作为独立变量显著影响整体认知。更具体地说,ADNC 显著影响所有评估的认知领域,LBD 影响注意力、处理速度和语言,LATE-NC 主要影响与逻辑记忆和语言相关的测试,而 CVD 和其他不太常见的病变(包括匹克病、进行性核上性麻痹和皮质基底节变性)则具有更多变的神经认知效应。此外,ADNC、LBD 和更多共病神经病理与至少 1 个 APOE ε4 等位基因的存在相关,而 ADNC 和更多的神经病理与 APOE ε2 等位基因呈负相关。了解个体和同时存在的神经病理如何影响认知以及每种病理的贡献程度是开发生物标志物和疾病修饰治疗的关键步骤,特别是随着这些医学干预措施变得更加有针对性和个性化。