Down syndrome (DS) results in an overproduction of amyloid‐β (Aβ) peptide associated with early onset of Alzheimer's disease (AD). DS cases have Aβ deposits detectable histologically as young as 12–30 years of age, primarily in the form of diffuse plaques, the type of early amyloid pathology also seen at pre‐clinical (i.e., pathological aging) and prodromal stages of sporadic late onset AD. In DS subjects aged >40 years, levels of cortical Aβ deposition are similar to those observed in late onset AD and in addition to diffuse plaques involve cored plaques associated with dystrophic neurites (neuritic plaques), which are of neuropathological diagnostic significance in AD. The purpose of this review is to summarize and discuss findings from amyloid PET imaging studies of DS in reference to postmortem amyloid‐based neuropathology. PET neuroimaging applied to subjects with DS has the potential to (a) track the natural progression of brain pathology, including the earliest stages of amyloid accumulation, and (b) determine whether amyloid PET biomarkers predict the onset of dementia. In addition, the question that is still incompletely understood and relevant to both applications is the ability of amyloid PET to detect Aβ deposits in their earliest form.

中文翻译：

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唐氏综合症中淀粉样蛋白PET成像的神经病理学相关性。

唐氏综合症（DS）导致与早老性阿尔茨海默氏病（AD）相关的淀粉样β（Aβ）肽过量产生。DS病例在组织学上可检测到的Aβ沉积物年龄低至12-30岁，主要表现为弥散斑块，早期淀粉样蛋白病理类型，也可在临床前（即病理性衰老）和散发性晚发的前驱阶段看到。广告。在年龄超过40岁的DS受试者中，皮质Aβ沉积水平与AD晚期发病时观察到的相似，除了弥散性斑块还涉及与营养不良性神经突相关的核心斑块（神经性斑块），这在AD中具有神经病理学诊断意义。这篇综述的目的是总结和讨论DS的淀粉样蛋白PET成像研究的结果，并参考基于死后淀粉样蛋白的神经病理学。对患有DS的受试者进行PET神经成像检查有可能（a）追踪脑部病理的自然进程，包括淀粉样蛋白积累的最早阶段，以及（b）确定淀粉样蛋白PET生物标记物是否可预测痴呆症的发作。另外，仍未被完全理解并且与这两种应用相关的问题是淀粉样PET检测最早形式的Aβ沉积物的能力。