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多系统萎缩中的边缘性阿尔茨海默病共病病理与认知障碍及诊断不准确有关。

Limbic Alzheimer's co-pathology in multiple system atrophy is associated with cognitive impairment and diagnostic inaccuracy.

作者信息

van Wetering Janna, Deshayes Natasja A C, Boone Joëlle, Rodrigues Fernandes Inês, Hepp Dagmar H, Berendse Henk W, Jonkman Laura E, Rozemuller Annemieke J M, van de Berg Wilma D J

机构信息

Section Clinical Neuroanatomy and Biobanking, Department of Anatomy and Neurosciences, Amsterdam UMC, Vrije University, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

Amsterdam Neuroscience, Neurodegeneration Program, Amsterdam UMC, Amsterdam, The Netherlands.

出版信息

Acta Neuropathol. 2025 Sep 18;150(1):30. doi: 10.1007/s00401-025-02940-0.

Abstract

The clinical heterogeneity of multiple system atrophy (MSA) may, along with the primary aggregation of alpha-synuclein (α-syn), partly be shaped by co-pathologies, such as amyloid-beta (Aβ), phosphorylated (p)-tau, and pTDP-43, though their relevance remains unclear. Here, we aimed to characterize the prevalence, morphology, regional patterns, and clinical relevance of co-pathologies in a well-characterized MSA autopsy cohort. Regional load (%area) and morphological characterization of α-syn (KM51), Aβ (6F/3D), p-tau (AT8), and pTDP-43 (pSer409) pathology were assessed in limbic regions of MSA (n = 70) donors from the Netherlands Brain Bank. APOE-ε4 genotyping and clinical parameters of the cohort were collected. Associations with clinical features were analyzed using ANCOVA and mixed linear models, adjusted for age and sex. Aβ, p-tau, and pTDP-43 pathology were detected in 31%, 91%, and 11% of all MSA cases, respectively, with the highest burdens in the entorhinal cortex and amygdala. Mixed MSA + AD cases had a higher age at death (75 ± 7 vs. 64 ± 7, p < 0.001), and more frequently APOE-ε4 alleles (p < 0.001) than pure MSA. Cognitive impairment (CDR scores) was associated with diffuse and compact Aβ plaques across all regions (r ≥ 0.24, p ≤ 0.015), p-tau pathology in CA1 and CA3 + 4 (r ≥ 0.32, p ≤ 0.020), and neuronal α-syn inclusions in the amygdala (r = 0.54, p < 0.001). No robust correlations were found between total α-syn burden and Aβ or p-tau. Misdiagnoses increased with co-pathology burden (Aβ: p = 0.040; p-tau: p = 0.020) and age at onset (80% in those with onset > 75 years). Our results demonstrate that limbic Aβ, p-tau, and neuronal α-syn pathologies occur in a substantial proportion of MSA donors and are independently associated with cognitive decline and diagnostic inaccuracy, particularly among those with older age at onset. By providing a systematic quantitative and morphological assessment of co-pathologies in limbic regions of MSA, our study advances beyond prior prevalence reports and highlights their direct clinical relevance. These findings highlight the need for refined diagnostic criteria and co-pathology-informed biomarker strategies for MSA.

摘要

多系统萎缩(MSA)的临床异质性,可能与α-突触核蛋白(α-syn)的原发性聚集一起,部分地由共病塑造,如淀粉样β蛋白(Aβ)、磷酸化(p)-tau蛋白和pTDP-43,尽管它们之间的相关性仍不清楚。在此,我们旨在描述一个特征明确的MSA尸检队列中共病的患病率、形态、区域模式及临床相关性。对来自荷兰脑库的70例MSA供体边缘区域的α-syn(KM51)、Aβ(6F/3D)、p-tau(AT8)和pTDP-43(pSer409)病理的区域负荷(%面积)和形态特征进行评估。收集该队列的APOE-ε4基因分型和临床参数。使用协方差分析和混合线性模型分析与临床特征的关联,并对年龄和性别进行校正。在所有MSA病例中,分别有31%、91%和11%检测到Aβ、p-tau和pTDP-43病理,在内嗅皮质和杏仁核中的负荷最高。混合性MSA+AD病例的死亡年龄更高(75±7岁 vs. 64±7岁,p<0.001),且APOE-ε4等位基因的频率比单纯MSA更高(p<0.001)。认知障碍(CDR评分)与所有区域的弥漫性和致密性Aβ斑块相关(r≥0.24,p≤0.015),与CA1和CA3+4区域的p-tau病理相关(r≥0.32,p≤0.020),以及与杏仁核中的神经元α-syn包涵体相关(r=0.54,p<0.001)。未发现总α-syn负荷与Aβ或p-tau之间有显著相关性。误诊率随共病负担增加(Aβ:p=0.040;p-tau:p=0.020)和发病年龄增加而增加(发病年龄>75岁者中误诊率为80%)。我们的结果表明,边缘区域的Aβ、p-tau和神经元α-syn病理在相当比例的MSA供体中出现,并且与认知下降和诊断不准确独立相关,特别是在发病年龄较大的患者中。通过对MSA边缘区域的共病进行系统的定量和形态学评估,我们的研究超越了先前的患病率报告,并突出了它们的直接临床相关性。这些发现凸显了为MSA制定更精细的诊断标准和基于共病的生物标志物策略的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bab0/12446110/a2949bb9b807/401_2025_2940_Fig1_HTML.jpg

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