Table_1_Prominent Striatum Amyloid Retention in Early-Onset Familial Alzheimer's Disease With PSEN1 Mutations: A Pilot PET/MR Study.DOCX

Background: With the advancements of amyloid imaging in recent years, this new imaging diagnostic method has aroused great interest from researchers. Till now, little is known regarding amyloid deposition specialty in patients with early-onset familial Alzheimer's disease (EOFAD), and even less is known about its role in cognitive impairments.
Objectives: Our study aimed to evaluate the amyloid deposition in five patients with EOFAD, 15 patients with late-onset sporadic AD, and 12 healthy subjects utilizing 11C-labeled Pittsburgh compound-B (11C-PiB) amyloid PET imaging. Moreover, we figured out the correlation between striatal and cortical standardized uptake value ratios (SUVRs). We also investigated the correlation between 11C-PiB retention and cognitive presentation.
Results: All patients with EOFAD showed high amyloid deposition in the striatum, a pattern that is not usually seen in patients with late-onset sporadic AD. The SUVR in the striatum, especially in the amygdala, showed significant correlations with cortex SUVR in EOFAD. However, neither striatal nor cortical 11C-PiB retention was related to cognitive decline.
Conclusions: The amyloid distribution in patients with EOFAD differs from late-onset sporadic AD, with higher amyloid deposits in the striatum. Our study also demonstrated positive correlations in 11C-PiB retention between the striatum and other cortical areas. We revealed that the distribution of amyloid in the brain is not random but diffuses following the functional and anatomical connections. However, the degree and pattern of amyloid deposition were not correlated with cognitive deficits.

背景：近年来，淀粉样蛋白成像（amyloid imaging）技术不断发展，该新型影像学诊断方法已引发研究者的广泛兴趣。目前，学界对于早期发作性家族性阿尔茨海默病（early-onset familial Alzheimer's disease, EOFAD）患者的淀粉样蛋白沉积特征尚知之甚少，而其在认知障碍发病机制中的作用更是鲜有报道。
研究目的：本研究采用11C标记匹茨堡化合物B（11C-labeled Pittsburgh compound-B, 11C-PiB）淀粉样蛋白PET成像技术，对5例早期发作性家族性阿尔茨海默病患者、15例晚发型散发性阿尔茨海默病患者及12名健康对照受试者的脑内淀粉样蛋白沉积情况进行评估。此外，本研究还分析了纹状体（striatum）与大脑皮层的标准化摄取值比（standardized uptake value ratios, SUVRs）之间的相关性，并探讨了11C-PiB滞留量（11C-PiB retention）与患者认知表现（cognitive presentation）之间的关联。
研究结果：所有早期发作性家族性阿尔茨海默病患者均表现出纹状体部位的高淀粉样蛋白沉积，这一沉积模式在晚发型散发性阿尔茨海默病患者中极为少见。在早期发作性家族性阿尔茨海默病患者中，纹状体（尤其是杏仁核（amygdala））的标准化摄取值比与大脑皮层标准化摄取值比呈显著正相关。然而，纹状体与大脑皮层的11C-PiB滞留量均与认知衰退（cognitive decline）无显著关联。
研究结论：早期发作性家族性阿尔茨海默病患者的脑内淀粉样蛋白分布模式与晚发型散发性阿尔茨海默病患者存在显著差异，其纹状体部位的淀粉样蛋白沉积水平更高。本研究同时证实，纹状体与其他大脑皮层区域的11C-PiB滞留量呈显著正相关。我们的研究揭示，脑内淀粉样蛋白的分布并非随机，而是沿着功能与解剖连接通路进行扩散。但淀粉样蛋白沉积的程度与模式均与认知缺陷（cognitive deficits）无显著相关性。