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首尔国立大学医院痴呆症脑库的现状与未来展望:临床与神经病理学诊断的一致性

Current Status and Future Perspective of Seoul National University Hospital-Dementia Brain Bank with Concordance of Clinical and Neuropathological Diagnosis.

作者信息

Lee Kwanghoon, Kim Seong-Ik, Shim Yu-Mi, Kim Eric Enshik, Yoo Sooyeon, Won Jae-Kyung, Park Sung-Hye

机构信息

Dementia Brain Bank, Seoul National University Hospital, Seoul 03080, Korea.

Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Korea.

出版信息

Exp Neurobiol. 2024 Dec 31;33(6):295-311. doi: 10.5607/en24027.

Abstract

This paper introduces the current status of Seoul National University Hospital Dementia Brain Bank (SNUH-DBB), focusing on the concordance rate between clinical diagnoses and postmortem neuropathological diagnoses. We detail SNUH-DBB operations, including protocols for specimen handling, induced pluripotent stem cells (iPSC) and cerebral organoids establishment from postmortem dural fibroblasts, and adult neural progenitor cell cultures. We assessed clinical-neuropathological diagnostic concordance rate. Between 2015 and September 2024, 162 brain specimens were collected via brain donation and autopsy. The median donor age was 73 years (1-94) with a male-to -female ratio of 2:1. The median postmortem interval was 9.5 hours (range: 2.5-65). Common neuropathological diagnoses included pure Lewy body disease (10.6%), Lewy body disease (LBD) with other brain diseases (10.6%), pure Alzheimer's disease-neuropathological change (ADNC) (6.0%), ADNC with other brain diseases (10.7%), vascular brain injury (15.2%), and primary age-related tauopathy (7.3%). APOE genotype distribution was following: ε3/ε3: 62.3%, ε2/ε3: 9.6%, ε2/ε4: 3.4%, ε3/ε4: 24.0%, and ε4/ε4: 0.7%. Concordance rates between pathological and clinical diagnoses were: ADNC/AD at 42.4%; LBD at 59.0%; PSP at 100%; ALS at 85.7%; Huntington's disease 100%. The varying concordance rates across different diseases emphasize the need for improved diagnostic criteria and biomarkers, particularly for AD and LBD. Tissues have been distributed to over 40 national studies. SNUH-DBB provides high-quality brain tissues and cell models for neuroscience research, operating under standardized procedures and international guidelines. It supports translational research in dementia and neurodegenerative diseases, potentially advancing diagnostic and therapeutic strategies.

摘要

本文介绍了首尔国立大学医院痴呆症脑库(SNUH-DBB)的现状,重点关注临床诊断与尸检神经病理学诊断之间的符合率。我们详细介绍了SNUH-DBB的运作情况,包括标本处理方案、从尸检硬脑膜成纤维细胞建立诱导多能干细胞(iPSC)和脑类器官,以及成人神经祖细胞培养。我们评估了临床-神经病理学诊断符合率。在2015年至2024年9月期间,通过脑捐赠和尸检收集了162个脑标本。捐赠者的年龄中位数为73岁(1-94岁),男女比例为2:1。尸检间隔时间中位数为9.5小时(范围:2.5-65小时)。常见的神经病理学诊断包括单纯路易体病(10.6%)、伴有其他脑部疾病的路易体病(LBD)(10.6%)、单纯阿尔茨海默病神经病理学改变(ADNC)(6.0%)、伴有其他脑部疾病的ADNC(10.7%)、血管性脑损伤(15.2%)和原发性年龄相关性tau病(7.3%)。APOE基因型分布如下:ε3/ε3:62.3%,ε2/ε3:9.6%,ε2/ε4:3.4%,ε3/ε4:24.0%,ε4/ε4:0.7%。病理诊断与临床诊断之间的符合率为:ADNC/AD为42.4%;LBD为59.0%;进行性核上性麻痹(PSP)为100%;肌萎缩侧索硬化症(ALS)为85.7%;亨廷顿舞蹈病为100%。不同疾病之间变化的符合率强调了改进诊断标准和生物标志物的必要性,特别是对于AD和LBD。组织已分发给40多项国内研究。SNUH-DBB按照标准化程序和国际指南运作,为神经科学研究提供高质量的脑组织和细胞模型。它支持痴呆症和神经退行性疾病的转化研究,有可能推进诊断和治疗策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bfa/11738475/9b7aa45da1d4/en-33-6-295-f1.jpg

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