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Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.罕见编码突变与欧洲血统成年人阿尔茨海默病及其他类型痴呆的关联。
JAMA Netw Open. 2019 Mar 1;2(3):e191350. doi: 10.1001/jamanetworkopen.2019.1350.
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Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.基于诊断的阿尔茨海默病的全基因组关联荟萃分析鉴定出新的风险位点,并提示 Aβ、tau、免疫和脂类代谢过程的作用。
Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28.
4
Plasma tau/amyloid-β1-42 ratio predicts brain tau deposition and neurodegeneration in Alzheimer's disease.血浆 tau/淀粉样蛋白-β1-42 比值可预测阿尔茨海默病患者的脑 tau 沉积和神经退行性变。
Brain. 2019 Mar 1;142(3):771-786. doi: 10.1093/brain/awy347.
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Longitudinal tau accumulation and atrophy in aging and alzheimer disease.tau 蛋白在衰老和阿尔茨海默病中的纵向积累和萎缩。
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A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.一种罕见的 CASP7 错义变异与家族性晚发性阿尔茨海默病相关。
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.全外显子组测序研究鉴定出新型罕见和常见的与阿尔茨海默病相关的变异,这些变异参与免疫反应和转录调控。
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2019年韩国痴呆症协会国际会议执行摘要:探索阿尔茨海默病及其他痴呆症的新概念:韩国痴呆症协会学术委员会报告

Executive Summary of the 2019 International Conference of Korean Dementia Association: Exploring the Novel Concept of Alzheimer's Disease and Other Dementia: a Report from the Academic Committee of the Korean Dementia Association.

作者信息

Park Kee Hyung, Lim Jae Sung, Seo Sang Won, Jeong Yong, Noh Young, Koh Seong Ho, Bae Jae Sung, Park Sun Ah, Yang Soh Jeong, Kim Hee Jin, Chin Juhee, Roh Jee Hoon, An Seong Soo A

机构信息

Department of Neurology, Gachon University Gil Medical Center, Gachon University College of Medicine, Incheon, Korea.

Department of Neurology, Hallym University Sacred Heart Hospital, Hallym Neurological Institute, Hallym University College of Medicine, Anyang, Korea.

出版信息

Dement Neurocogn Disord. 2020 Jun;19(2):39-53. doi: 10.12779/dnd.2020.19.2.39.

DOI:10.12779/dnd.2020.19.2.39
PMID:32602279
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7326615/
Abstract

Because of repeated failures of clinical trials, the concept of Alzheimer's disease (AD) has been changing rapidly in recent years. As suggested by the National Institute on Aging and the Alzheimer's Association Research Framework, the diagnosis and classification of AD is now based on biomarkers rather than on symptoms, allowing more accurate identification of proper candidates for clinical trials by pathogenesis and disease stage. Recent development in neuroimaging has provided a way to reveal the complex dynamics of amyloid and tau in the brain , and studies of blood biomarkers are taking another leap forward in diagnosis and treatment of AD. In the field of basic and translational research, the development of animal models and a deeper understanding of the role of neuroinflammation are taking a step closer to clarifying the pathogenesis of AD. Development of big data and the Internet of Things is also incorporating dementia care and research into other aspects. Large-scale genetic research has identified genetic abnormalities that can provide a foundation for precision medicine along with the aforementioned digital technologies. Through the first international conference of the Korean Dementia Association, experts from all over the world gathered to exchange opinions with association members on these topics. The Academic Committee of the Korean Dementia Association briefly summarizes the contents of the lectures to convey the depth of the conference and discussions. This will be an important milestone in understanding the latest trends in AD's pathogenesis, diagnostic and therapeutic research and in establishing a future direction.

摘要

由于临床试验屡屡失败,近年来阿尔茨海默病(AD)的概念一直在迅速变化。正如美国国立衰老研究所和阿尔茨海默病协会研究框架所建议的,AD的诊断和分类现在基于生物标志物而非症状,从而能够根据发病机制和疾病阶段更准确地识别临床试验的合适候选者。神经影像学的最新进展提供了一种揭示大脑中淀粉样蛋白和tau蛋白复杂动态变化的方法,血液生物标志物的研究在AD的诊断和治疗方面也取得了又一次飞跃。在基础研究和转化研究领域,动物模型的开发以及对神经炎症作用的更深入理解正朝着阐明AD的发病机制迈进了一步。大数据和物联网的发展也将痴呆症护理和研究纳入了其他方面。大规模基因研究已经确定了基因异常,这些异常连同上述数字技术可为精准医学提供基础。通过韩国痴呆症协会的首届国际会议,来自世界各地的专家齐聚一堂,就这些主题与协会成员交流意见。韩国痴呆症协会学术委员会简要总结了讲座内容,以传达会议和讨论的深度。这将是理解AD发病机制、诊断和治疗研究的最新趋势以及确立未来方向的一个重要里程碑。