Department of Drug Sciences, University of Catania, Catania, Italy; IRCCS Associazione Oasi Maria S.S., Institute for Research on Mental Retardation and Brain Aging, Troina, Enna, Italy.
Department of Neurosciences, Faculty of Medicine, Université de Montréal, Montreal, Canada H3T 1J4.
Eur J Pharmacol. 2017 Dec 15;817:7-19. doi: 10.1016/j.ejphar.2017.10.004. Epub 2017 Oct 5.
Individuals with Down syndrome are at increased risk of developing Alzheimer's disease due to increase gene dosage resulting from chromosome 21 triplication. Although virtually all adults with Down syndrome will exhibit the major neuropathological hallmarks that define Alzheimer's disease, not all of them will develop the clinical symptoms associated with this disorder (i.e. dementia). Therefore, a good understanding of the pathophysiology of Alzheimer's disease in Down syndrome will be crucial for the identification of novel pharmacological targets to develop disease-modifying therapies for the benefit of Down syndrome individuals and for Alzheimer's sufferers alike. The study of biomarkers will also be essential for the development of better screening tools to identify dementia at its incipient stages. This review discusses the best-validated pharmacological targets for the treatment of cognitive impairment and Alzheimer's disease in Down syndrome. We further examine the relevance of newly discovered biological markers for earlier dementia diagnosis in this population.
唐氏综合征患者由于 21 号染色体三体导致基因剂量增加，因此患阿尔茨海默病的风险增加。尽管几乎所有唐氏综合征患者都会表现出定义阿尔茨海默病的主要神经病理学特征，但并非所有人都会出现与这种疾病相关的临床症状（即痴呆）。因此，深入了解唐氏综合征患者阿尔茨海默病的病理生理学将是确定新的药理学靶点的关键，以便为唐氏综合征患者和阿尔茨海默病患者开发疾病修饰疗法。生物标志物的研究对于开发更好的筛查工具以在早期阶段识别痴呆也至关重要。这篇综述讨论了治疗唐氏综合征认知障碍和阿尔茨海默病的最有效的验证药理学靶点。我们进一步研究了在该人群中用于早期痴呆诊断的新发现生物标志物的相关性。
