BACKGROUND Little is known so far about the brain phenotype and the spatial interplay of different Alzheimer's disease (AD) biomarkers with structural and functional brain connectivity in the early phase of autosomal-dominant AD (ADAD). Multimodal PET/MRI might be suitable to fill this gap. MATERIAL AND METHODS We presented a 31-year-old male patient without a family history of de- mentia with progressive worsening of memory and motor function. Two separate sessions of 3T PET/MRI acquisitions were arranged with the ß-amyloid tracer [18F]Florbetaben and the second-- generation tau tracer [18F]PI-2620. Simultaneously acquired MRI consisted of high-resolution 3D T1, diffusion-tensor imaging (DTI), and resting-state fMRI. PET/MRI data were compared with ten age-matched healthy controls. RESULTS Widespread β-amyloid depositions were found in cortical regions, and striatum (Thal stage III) along with tau pathology restricted to the mesial-temporal structures (Braak stage III/IV). Volumetric/shape analysis of subcortical structures revealed atrophy of the hippocampal-amygdala complex. In addition, cortical thinning was detected in the right middle temporal pole. Alterations of multiple DTI indices were noted in the major white matter fiber bundles, together with disrup- tion of default mode and sensory-motor network functional connectivity. Molecular genetic analy- sis by next-generation sequencing revealed a heterozygote missense pathogenic variant of the PSEN1 (Met233Val). CONCLUSION Multimodal PET/MR imaging is able to deliver, in a one-stop-shop approach, an ar- ray of molecular, structural and functional brain information in AD due to de novo pathogenic variant, which can be studied for spatial interplay and might provide a rationale for initiating an- ti-amyloid/tau therapeutic approaches.

中文翻译：

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PET / MRI通过De Novo PSEN1突变在阿尔茨海默氏病中提供多模式脑签名。

背景技术迄今为止，关于常染色体显性AD（ADAD）早期阶段中具有结构和功能性大脑连通性的不同阿尔茨海默氏病（AD）生物标志物的脑表型和空间相互作用的了解甚少。多峰PET / MRI可能适合填补这一空白。材料与方法我们介绍了一名31岁的男性患者，该患者无家族性痴呆病史，伴有记忆力和运动功能的逐步恶化。使用β-淀粉样蛋白示踪剂[18F] Florbetaben和第二代tau示踪剂[18F] PI-2620安排了两个单独的3T PET / MRI采集会议。同时获得的MRI包括高分辨率3D T1，扩散张量成像（DTI）和静止状态fMRI。将PET / MRI数据与十个年龄匹配的健康对照进行比较。结果在皮质区域和纹状体（Thal期III）中发现了广泛的β-淀粉样蛋白沉积，同时tau病理仅限于中颞结构（Braak III / IV期）。皮质下结构的体积/形状分析显示了海马-杏仁核复合体的萎缩。另外，在右颞中极检测到皮质变薄。在主要的白质纤维束中，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。下一代测序的分子遗传分析揭示了PSEN1（Met233Val）的杂合错义致病变异。结论多峰PET / MR成像能够一站式提供分子阵列，