Expert consensus on the selection of accessory examinations for cognitive dysfunction disorders based on the biomarker diagnostic framework

doi:10.3969/j.issn.1672-6731.2026.02.004

Chinese Journal of Contemporary Neurology and Neurosurgery ›› 2026, Vol. 26 ›› Issue (2): 129-143. doi: 10.3969/j.issn.1672-6731.2026.02.004

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Expert consensus on the selection of accessory examinations for cognitive dysfunction disorders based on the biomarker diagnostic framework

Neurodegenerative Disease Special Committee, China Association for Promotion of Health Science and Technology, Shandong Provincial Key Laboratory of Neuroimmune Interaction and Regulation

Received:2025-12-29 Published:2026-03-12
Supported by:
This study was supported by National Key Research and Development Program of China (No.2022YFF1202804);the National Natural Science Foundation of China (No. 62171209, 82271227,82571423, 82301339, 81571234);Yantai Natural Science Foundation in Shandong (No. ZR2025Z055);Project of Tongji University (No. 2025-0313-YB-06);Project of Shanghai Tongji Hospital [No. ITJ (ZD)2405];State Key Laboratory of Neurology and Oncology Drug Development (No. SKLSIM-F-202483, SKLSIM-F-202432)

基于生物学标志物诊断框架的认知功能障碍疾病辅助检查选择专家共识

中国人体健康科技促进会神经变性病专业委员会, 山东省神经免疫互作与调控重点实验室

通讯作者: 巴茂文，264000 青岛大学附属烟台毓璜顶医院神经内科山东省神经免疫互作与调控重点实验室，Email:bamaowen@163.com;汪锡金，200065 上海，同济大学附属同济医院神经内科，Email:wangxijin2004@163.com
基金资助:
国家重点研发计划项目(项目编号:2022YFF1202804);国家自然科学基金资助项目(项目编号:62171209);国家自然科学基金资助项目(项目编号:82271227);国家自然科学基金资助项目(项目编号:82571423);国家自然科学基金资助项目(项目编号:81571234);山东省烟台市自然科学基金资助项目(项目编号:ZR2025Z055);同济大学培育项目(项目编号:2025-0313-YB-06);上海市同济医院临床研究培育项目[项目编号:ITJ (ZD)2405];神经与肿瘤药物研发全国重点实验室开放课题(项目编号:SKLSIM-F-202483)神经与肿瘤药物研发全国重点实验室开放课题(项目编号:SKLSIM-F-202432)

Abstract

Abstract: Cognitive dysfunction disorders have emerged as a major public health challenge in aging societies, early precise diagnosis and management are even more challenging. Using the ATN biomarker diagnostic framework for Alzheimer's disease(AD) as a paradigm, promoting biomarker-based precision diagnosis has become an important concept in the field of cognitive dysfunction disorders diagnosis and treatment. However, the diagnostic efficacy of the ATN framework has certain limitations.Therefore, the new diagnostic pathway advocates the starting from the clinical cognitive dysfunction characteristics of patients to form preliminary diagnostic hypotheses, which then serve as the entry point for selecting biomarkers. To improve the assessment system, develop reasonable accessory examination pathways, and prioritize biomarkers with the highest informational value, the "Expert consensus on the selection of accessory examinations for cognitive dysfunction disorders based on the biomarker diagnostic framework" has been compiled. This consensus integrates a systematic summary of current domestic and international evidence, aiming to assist clinicians in the rational and effective use of diagnostic biomarkers.By promoting standardized diagnostic and management practices, this consensus seeks to enhance the efficiency of clinical decision-making, enabling accurate diagnosis and differential diagnosis of cognitive dysfunction disorders with minimal yet informative testing.

Key words: Cognition disorders, Alzheimer disease, Biomarkers, Amyloid beta-peptides, Cerebrospinal fluid, Plasma, Body fluids

摘要： 认知功能障碍疾病是老龄化社会面临的重大公共卫生挑战，早期精准诊断与管理尤为困难。以阿尔茨海默病ATN生物学标志物诊断框架（以下简称ATN诊断框架）为范式，推动基于生物学标志物的精准诊断成为该领域的核心理念。但ATN诊断框架的诊断效能有限，故新的诊断路径倡导以临床认知功能障碍特征为起点，形成初步诊断假设，以此作为选择生物学标志物的切入点。为完善评估体系、制定合理的辅助检查路径，并优先选择信息量最高的生物学标志物，撰写《基于生物学标志物诊断框架的认知功能障碍疾病辅助检查选择专家共识》。系统总结国内外证据，旨在指导临床医师合理、有效地应用诊断性生物学标志物，推动认知功能障碍疾病诊断管理的同质化，力求以最少的检查获取最多的诊断信息，最终促使我国医务人员在临床实践中有效实现认知功能障碍疾病的诊断与鉴别诊断。

关键词: 认知障碍, 阿尔茨海默病, 生物标记, 淀粉样β肽类, 脑脊髓液, 血浆, 体液

CLC Number:

R741

Neurodegenerative Disease Special Committee, China Association for Promotion of Health Science and Technology, Shandong Provincial Key Laboratory of Neuroimmune Interaction and Regulation. Expert consensus on the selection of accessory examinations for cognitive dysfunction disorders based on the biomarker diagnostic framework[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2026, 26(2): 129-143.

中国人体健康科技促进会神经变性病专业委员会, 山东省神经免疫互作与调控重点实验室. 基于生物学标志物诊断框架的认知功能障碍疾病辅助检查选择专家共识[J]. 中国现代神经疾病杂志, 2026, 26(2): 129-143.

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Expert consensus on the selection of accessory examinations for cognitive dysfunction disorders based on the biomarker diagnostic framework

基于生物学标志物诊断框架的认知功能障碍疾病辅助检查选择专家共识

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Expert consensus on the selection of accessory examinations for cognitive dysfunction disorders based on the biomarker diagnostic framework

基于生物学标志物诊断框架的认知功能障碍疾病辅助检查选择专家共识

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