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阿尔茨海默病

Alzheimer's disease.

作者信息

Blennow Kaj, de Leon Mony J, Zetterberg Henrik

机构信息

Clinical Neurochemistry Laboratory, Department of Neuroscience and Physiology, Sahlgren's University Hospital, Mölndal, Sweden.

出版信息

Lancet. 2006 Jul 29;368(9533):387-403. doi: 10.1016/S0140-6736(06)69113-7.

Abstract

Alzheimer's disease is the most common cause of dementia. Research advances have enabled detailed understanding of the molecular pathogenesis of the hallmarks of the disease--ie, plaques, composed of amyloid beta (Abeta), and tangles, composed of hyperphosphorylated tau. However, as our knowledge increases so does our appreciation for the pathogenic complexity of the disorder. Familial Alzheimer's disease is a very rare autosomal dominant disease with early onset, caused by mutations in the amyloid precursor protein and presenilin genes, both linked to Abeta metabolism. By contrast with familial disease, sporadic Alzheimer's disease is very common with more than 15 million people affected worldwide. The cause of the sporadic form of the disease is unknown, probably because the disease is heterogeneous, caused by ageing in concert with a complex interaction of both genetic and environmental risk factors. This seminar reviews the key aspects of the disease, including epidemiology, genetics, pathogenesis, diagnosis, and treatment, as well as recent developments and controversies.

摘要

阿尔茨海默病是痴呆最常见的病因。研究进展使人们能够详细了解该疾病特征——即由β淀粉样蛋白(Aβ)构成的斑块和由高度磷酸化tau蛋白构成的缠结——的分子发病机制。然而,随着我们知识的增加,我们对该疾病致病复杂性的认识也在增加。家族性阿尔茨海默病是一种非常罕见的早发性常染色体显性疾病,由淀粉样前体蛋白和早老素基因突变引起,这两个基因均与Aβ代谢有关。与家族性疾病不同,散发性阿尔茨海默病非常常见,全球有超过1500万人受其影响。散发性疾病的病因尚不清楚,可能是因为该疾病具有异质性,是由衰老以及遗传和环境风险因素的复杂相互作用共同导致的。本次研讨会回顾了该疾病的关键方面,包括流行病学、遗传学、发病机制、诊断和治疗,以及近期的进展和争议。

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