PET/MRI Delivers Multimodal Brain Signature in Alzheimer’s Disease with De Novo PSEN1 Mutation

doi:10.2174/1567205018666210414111536

摘要

背景：目前对常染色体显性 AD (ADAD) 早期阶段的大脑表型和不同阿尔茨海默病 (AD) 生物标志物与结构和功能性大脑连接的空间相互作用知之甚少。多模式 PET/MRI 可能适合填补这一空白。材料和方法：我们介绍了一名 31 岁男性患者，没有痴呆家族史，记忆力和运动功能逐渐恶化。使用 s-淀粉样蛋白示踪剂 [18F] Florbetaben 和第二代 tau 示踪剂 [18F]PI-2620 安排了两次单独的 3T PET/MRI 采集。同时获得的 MRI 包括高分辨率 3D T1、弥散张量成像 (DTI) 和静息态 fMRI。 PET/MRI 数据与十个年龄匹配的健康对照进行了比较。结果：在皮质区域和纹状体（Thal III 期）中发现了广泛的 β-淀粉样蛋白沉积，而 tau 病理学仅限于内侧颞结构（Braak III/IV 期）。皮质下结构的体积/形状分析显示海马-杏仁核复合体萎缩。此外，在右侧中颞极检测到皮质变薄。在主要白质纤维束中注意到多个 DTI 指数的变化，以及默认模式和感觉-运动网络功能连接的中断。通过下一代测序进行的分子遗传分析揭示了 PSEN1 (Met233Val) 的杂合子错义致病变异。结论：多模态 PET/MR 成像能够以一站式方法提供一系列分子、结构和功能脑信息，这些信息可以用于研究空间相互作用，并可能提供启动抗淀粉样蛋白/tau 治疗方法的基本原理。

关键词: 淀粉样蛋白 PET、tau PET、常染色体显性阿尔茨海默病、海马、PET/MRI、PSEN1、rs-fMRI、DTI。

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DOI https://dx.doi.org/10.2174/1567205018666210414111536	Print ISSN 1567-2050
Publisher Name Bentham Science Publisher	Online ISSN 1875-5828

当代阿耳茨海默病研究

PET/MRI 通过 De Novo PSEN1 突变为阿尔茨海默病提供多模式脑信号

摘要

当代阿耳茨海默病研究

PET/MRI 通过 De Novo PSEN1 突变为阿尔茨海默病提供多模式脑信号

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