ForeFront Clinic, Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia.
Frontier, Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia.
Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12845. doi: 10.1111/nan.12845. Epub 2022 Aug 18.
Over the past decade, considerable efforts have been made to accelerate pathophysiological understanding of fatal neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) with brain banks at the forefront. In addition to exploratory disease mechanisms, brain banks have aided our understanding with regard to clinical diagnosis, genetics and cell biology. Across neurodegenerative disorders, the impact of brain tissue in ALS research has yet to be quantified. This review aims to outline (i) how postmortem tissues from brain banks have influenced our understanding of ALS over the last 15 years, (ii) correlate the location of dedicated brain banks with the geographical prevalence of ALS, (iii) identify the frequency of features reported from postmortem studies and (iv) propose common reporting standards for materials obtained from dedicated brain banks. A systematic review was conducted using PubMed and Web of Science databases using key words. From a total of 1439 articles, 73 articles were included in the final review, following PRISMA guidelines. Following a thematic analysis, articles were categorised into five themes; clinico-pathological (13), genetic (20), transactive response DNA binding protein 43 (TDP-43) pathology (12), non-TDP-43 neuronal pathology (nine) and extraneuronal pathology (19). Research primarily focused on the genetics of ALS, followed by protein pathology. About 63% of the brain banks were in the United States of America and United Kingdom. The location of brain banks overall aligned with the incidence of ALS worldwide with 88% of brain banks situated in Europe and North America. An overwhelming lack of consistency in reporting and replicability was observed, strengthening the need for a standardised reporting system. Overall, postmortem material from brain banks generated substantial new knowledge in areas of genetics and proteomics and supports their ongoing role as an important research tool.
在过去的十年中，脑库作为前沿力量，在加速对致命神经退行性疾病（如肌萎缩侧索硬化症，ALS）的病理生理学理解方面做出了相当大的努力。除了探索性的疾病机制外，脑库还为我们的临床诊断、遗传学和细胞生物学研究提供了帮助。在神经退行性疾病中，脑库中的脑组织对 ALS 研究的影响尚未被量化。本综述旨在概述：（i）在过去的 15 年中，脑库的尸检组织如何影响我们对 ALS 的理解；（ii）将脑库的位置与 ALS 的地理流行程度相关联；（iii）确定从尸检研究中报告的特征的频率；（iv）为从专用脑库获得的材料提出通用报告标准。使用 PubMed 和 Web of Science 数据库，通过关键词进行了系统综述。根据 PRISMA 指南，从总共 1439 篇文章中，有 73 篇文章被纳入最终综述。经过主题分析，文章被分为五个主题：临床病理学（13 篇）、遗传学（20 篇）、转激活反应 DNA 结合蛋白 43（TDP-43）病理学（12 篇）、非 TDP-43 神经元病理学（9 篇）和细胞外病理学（19 篇）。研究主要集中在 ALS 的遗传学上，其次是蛋白病理学。大约 63%的脑库位于美国和英国。脑库的位置与全球 ALS 的发病率总体一致，88%的脑库位于欧洲和北美。观察到报告和可重复性的一致性严重缺乏，这加强了标准化报告系统的必要性。总体而言，脑库的尸检材料在遗传学和蛋白质组学领域产生了大量新知识，并支持它们作为重要研究工具的持续作用。
