Wagemann Olivia, Brendel Matthias, Franzmeier Nicolai, Nübling Georg, Gnörich Johannes, Zaganjori Mirlind, Prix Catharina, Stockbauer Anna, Wlasich Elisabeth, Loosli Sandra V, Sandkühler Katja, Frontzkowski Lukas, Höglinger Günter, Levin Johannes
Department of Neurology, University Hospital, Ludwig-Maximilians-University (LMU) Munich, Munich, Germany.
German Center for Neurodegenerative Disease (DZNE), Munich, Germany.
Front Neurosci. 2025 Jan 6;18:1505999. doi: 10.3389/fnins.2024.1505999. eCollection 2024.
Adults with Down Syndrome (DS) have a substantially increased risk for Alzheimer's disease (AD) due to the triplicated amyloid-precursor-protein gene on chromosome 21, resulting in amyloid and tau accumulation. However, tau PET assessments are not sufficiently implemented in DS-AD research or clinical work-up, and second-generation tau tracers such as [F]PI-2620 have not been thoroughly characterized in adults with DS. We aim at illustrating feasibility and potential diagnostic value of tau PET imaging with [F]PI-2620 for the diagnosis of DS-AD.
Five adults with DS (40% female, aged 43-62) and cognitive decline underwent clinical assessments, neuropsychological testing, lumbar puncture and multimodal neuroimaging. All underwent [F]PI-2620 tau PET. Visual read of tau PET scans was performed by three blinded raters, assessing increased tracer uptake in brain areas corresponding to the six Braak stage regions and basal ganglia.
Visual read of tau burden revealed three tau-positive individuals which corresponded to their clinical decline while two cognitively stable individuals were rated as negative. Rating showed high inter-rater reliability for all Braak stages.
Tau PET imaging is a feasible and important biomarker assessment in the differential diagnosis of cognitive decline in adults with DS at risk of developing AD.
由于21号染色体上淀粉样前体蛋白基因的三倍体，唐氏综合征（DS）成人患阿尔茨海默病（AD）的风险大幅增加，导致淀粉样蛋白和tau蛋白积累。然而，tau正电子发射断层扫描（PET）评估在DS-AD研究或临床检查中尚未得到充分应用，并且第二代tau示踪剂，如[F]PI-2620，在DS成人中尚未得到充分表征。我们旨在说明使用[F]PI-2620进行tau PET成像对DS-AD诊断的可行性和潜在诊断价值。
五名患有DS（40%为女性，年龄43 - 62岁）且有认知功能下降的成人接受了临床评估、神经心理学测试、腰椎穿刺和多模态神经成像检查。所有人均接受了[F]PI-2620 tau PET检查。由三名不知情的评估者对tau PET扫描进行视觉解读，评估与六个Braak分期区域和基底神经节相对应的脑区中示踪剂摄取增加情况。
tau负荷的视觉解读显示，三名tau阳性个体与其临床功能下降情况相符，而两名认知功能稳定的个体被评为阴性。所有Braak分期的评估者间可靠性都很高。
tau PET成像在对有患AD风险的DS成人认知功能下降的鉴别诊断中是一种可行且重要的生物标志物评估方法。
