我们能从唐氏综合症患者身上学到什么?

Q3 Neuroscience
Lucia Maure-Blesa, Iñigo Rodríguez-Baz, Maria Carmona-Iragui, Juan Fortea
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引用次数: 0

摘要

唐氏综合征(Down syndrome,DS)是最常见的遗传性智力残疾,据估计,全球每 700 名新生儿中就有 1 人患有该病(美国疾病预防控制中心,CDC,2023 年)。在欧洲和美国,目前的估计数字分别为每 10,000 人中有 5.6 人和 6.7 人患有唐氏综合征,这意味着美国有 20 多万人、欧洲有 40 多万人、全球约有 600 万人患有唐氏综合征。在过去的 50 年里,医疗保健和伴随疾病治疗的进步大大延长了 DS 患者的寿命。因此,我们迫切需要应对这一人群中与老龄化相关的挑战,其中阿尔茨海默病(AD)是首要关注的问题。在本章中,我们将回顾研究这一人群对了解阿兹海默症生物学的重要意义、对 DS(DSAD)阿兹海默病的见解,以及这些知识如何帮助我们了解 DS 和普通人群中的阿兹海默症。最后,我们将探讨尚待实现的目标。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
What Can We Learn About Alzheimer's Disease from People with Down Syndrome?

Down syndrome (DS) is the most frequent cause of intellectual disability of genetic origin, estimated to affect about 1 in 700 babies born worldwide (CDC 2023). In Europe and the United States, current estimates indicate a population prevalence of 5.6 and 6.7 per 10,000 individuals, respectively, which translates to more than 200,000 people in the United States, more than 400,000 people in Europe, and approximately six million worldwide. Advances in healthcare and the treatment of accompanying conditions have significantly prolonged the lifespan of those with DS over the past 50 years. Consequently, there is a pressing need to address the challenges associated with ageing among this population, with Alzheimer's disease (AD) being the primary concern. In this chapter, we will review the significance of studying this population to understand AD biology, the insights gained on AD in DS (DSAD), and how this knowledge can help us understand the AD not only in DS but also in the general population. We will conclude by exploring the objectives that remain to be accomplished.

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来源期刊
Current topics in behavioral neurosciences
Current topics in behavioral neurosciences Neuroscience-Behavioral Neuroscience
CiteScore
4.80
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0.00%
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103
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