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为痴呆症研究提供大脑:在纵向大脑捐赠队列中不断发展,以最大限度地提高当前和未来的价值。

Brains for Dementia Research: Evolution in a Longitudinal Brain Donation Cohort to Maximize Current and Future Value.

机构信息

King's College London, Wolfson Centre for Age-Related Diseases, London, UK.

出版信息

J Alzheimers Dis. 2018;66(4):1635-1644. doi: 10.3233/JAD-180699.

DOI:10.3233/JAD-180699
PMID:30452415
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6294579/
Abstract

Brain banking has a long and distinguished past, contributing greatly to our understanding of human neurological and psychiatric conditions. Brain banks have been operationally diverse, collecting primarily end stage disease, with variable quality clinical data available, yet it is now recognized the most informative brain donations are from those in longitudinally studied cohorts. The Brains for Dementia Research (BDR) cohort and program was for planned brain donation across five UK brain banks and one donation point, with standardized operating procedures, following longitudinal clinical and psychometric assessments for people with no cognitive impairment as well as those with dementia. Lay representatives with experience of dementia were involved from inception of BDR and 74.5% of all enquiries about participation came through routes that were directly attributable to or influenced by lay representatives. Ten years after inception, this ongoing project has received over 700 brain donations from the recruited cohort of 3,276 potential brain donors. At cohort census for this paper, 72.2% of the living cohort have no cognitive impairment by assessment, whereas only 28.3% of the donated cohort were without cognitive impairment. It is important that brain banks are agile and reflect the changing needs of the research community, given that 'big data', readiness cohorts, and GWAS demand large sample numbers of highly characterized individuals to facilitate new approaches and understanding of pathological processes in dementia.

摘要

脑库有着悠久而卓越的历史,为我们理解人类神经和精神疾病做出了巨大贡献。脑库的运作方式多种多样,主要收集疾病晚期的样本,同时提供各种质量的临床数据,但现在人们已经认识到,最具信息价值的脑捐献来自那些经过长期研究队列的捐献者。“脑研究用于痴呆症研究(BDR)”队列和计划是在五个英国脑库和一个捐献点进行有计划的脑捐献,采用标准化操作程序,对无认知障碍的人群以及痴呆症患者进行纵向临床和心理计量评估。从 BDR 项目开始,就有具有痴呆症经验的非专业人士参与其中,并且所有关于参与的咨询中有 74.5%是通过直接归因于或受非专业人士影响的途径获得的。该项目启动十年后,已从招募的 3276 名潜在脑捐献者中收到了 700 多份脑捐献。在本文的队列普查中,72.2%的存活队列通过评估没有认知障碍,而只有 28.3%的捐献队列没有认知障碍。鉴于“大数据”、预备队列和全基因组关联研究需要大量特征明确的个体来促进新方法和对痴呆症病理过程的理解,脑库必须灵活适应研究社区不断变化的需求,这一点非常重要。

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本文引用的文献

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Ticking boxes or meaningful partnership - The experience of lay representation, participant and study partner involvement in Brains for Dementia Research.打勾应付还是有意义的伙伴关系——痴呆症研究中患者代表、参与者及研究伙伴的参与体验
Dementia (London). 2018 Nov;17(8):1023-1034. doi: 10.1177/1471301218789308.
2
Genotyping of the Alzheimer's Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort.对痴呆症研究队列大脑中的阿尔茨海默病全基因组关联研究索引单核苷酸多态性进行基因分型。
J Alzheimers Dis. 2018;64(2):355-362. doi: 10.3233/JAD-180191.
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Scores Obtained from a Simple Cognitive Test of Visuospatial Episodic Memory Performed Decades before Death Are Associated with the Ultimate Presence of Alzheimer Disease Pathology.数十年前进行的简单视空间情景记忆认知测试所获得的分数与阿尔茨海默病病理的最终存在相关。
Dement Geriatr Cogn Disord. 2018;45(1-2):79-90. doi: 10.1159/000486827. Epub 2018 Apr 25.
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Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.BDR 队列的全外显子组测序:支持 PILRA 基因在阿尔茨海默病中的作用的证据。
Neuropathol Appl Neurobiol. 2018 Aug;44(5):506-521. doi: 10.1111/nan.12452. Epub 2018 Jan 7.
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A Systematic Review of Longitudinal Studies Which Measure Alzheimer's Disease Biomarkers.一项对纵向研究阿尔茨海默病生物标志物的系统评价。
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