Individuals with Down syndrome (DS) are at high risk for developing Alzheimer’s disease (AD) pathology and this has provided significant insights into our understanding of the genetic basis of AD. The present review summarizes recent clinical, neuropathologic, imaging, and fluid biomarker studies of AD in DS (DSAD), highlighting the striking similarities, as well as some notable differences, between DSAD and the more common late-onset form of AD (LOAD) in the general population, as well as the much rarer, autosomal-dominant form of AD (ADAD). There has been significant progress in our understanding of the natural history of AD biomarkers in DS and their relationship to clinically meaningful changes. Additional work is needed to clearly define the continuum of AD that has been described in the general population, such as the preclinical, prodromal, and dementia stages of AD. Multiple therapeutic approaches, including those targeting not only β-amyloid but also tau and the amyloid precursor protein itself, require consideration. Recent developments in the field are presented within the context of such efforts to conduct clinical trials to treat and potentially prevent AD in DS.

患有唐氏综合症 (DS) 的个体患阿尔茨海默病 (AD) 病理的风险很高，这为我们了解 AD 的遗传基础提供了重要的见解。本综述总结了 DS 中 AD (DSAD) 的最新临床、神经病理学、影像学和体液生物标志物研究，强调了 DSAD 与更常见的迟发型 AD (LOAD) 之间的惊人相似之处以及一些显着差异。常见于普通人群，以及更为罕见的常染色体显性 AD (ADAD)。我们对 DS 中 AD 生物标志物的自然史及其与临床有意义的变化的关系的理解取得了重大进展。需要开展更多工作来明确定义普通人群中描述的 AD 连续体，例如临床前、前驱、和 AD 的痴呆阶段。需要考虑多种治疗方法，包括不仅针对 β-淀粉样蛋白，还针对 tau 蛋白和淀粉样蛋白前体蛋白本身的治疗方法。该领域的最新进展是在开展治疗和潜在预防 DS 中 AD 的临床试验的背景下提出的。