人工智能在神经系统疾病诊疗中的应用:过去、现在与未来——兼论人工智能在神经系统罕见病中的精准应用进展OA
Application of artificial intelligence in the diagnosis and treatment of neurological diseases in the past,present,and future:A review of the advances in the targeted application of artificial intelligence in rare neurological diseases
人工智能(AI)技术在医学领域的系统性应用,正在深刻重塑疾病诊断、预后评估与治疗决策的范式体系.神经系统疾病以表型异质性高、多模态数据结构复杂及专业资源分布不均为突出特征,是AI医学应用中最具战略价值亦最具挑战性的关键领域之一.本文系统回顾了AI在神经科学与神经病学领域的演进历程,从早期基于规则的专家系统到当代深度学习架构,梳理了AI在脑卒中、阿尔茨海默病、帕金森病、脑肿瘤、多发性硬化等主要神经系统疾病中的临床应用现状;综述了AI在神经系统罕见病——包括罕见癫痫综合征、罕见神经肌肉病、脑白质病、亨廷顿病(HD)及线粒体脑病等——的最新靶向研究进展;最后展望了可解释AI、联邦学习与数字生物标志物体系的未来发展方向.本文旨在为神经科从业者、科研人员及临床政策制定者提供关于AI赋能神经系统疾病精准诊疗的系统性参考框架.
The systematic application of artificial intelligence(AI)in the medical field is profoundly reshaping the paradigms for disease diagnosis,prognostic assessment,and treatment decision-making.Neurological diseases are charac-terized by high phenotypic heterogeneity,complex multimodal data structures,and uneven distribution of professional re-sources,thereby becoming one of the most strategically valuable and challenging fields for AI-enabled medical applica-tions.This article systematically reviews the evolution of AI in neuroscience and neurology,from early rule-based expert systems to modern deep learning frameworks.It also summarizes the clinical application of AI in major neurological dis-eases including stroke,Alzheimer disease,Parkinson disease,brain tumors,and multiple sclerosis and elaborates on the latest targeted advances of AI in rare neurological diseases such as rare epilepsy syndromes,rare neuromuscular disor-ders,leukoencephalopathy,Huntington disease,and mitochondrial encephalopathy.Finally,it looks ahead to the future development trends of explainable AI,federated learning,and digital biomarker systems.This article aims to provide a systematic reference framework for neurologists,researchers,and clinical policymakers regarding AI-powered precise di-agnosis and treatment of neurological diseases.
王秋佳;赵奕楠
首都医科大学宣武医院神经内科,北京 100053首都医科大学宣武医院神经内科,北京 100053
医药卫生
人工智能神经系统罕见病神经影像脑电图数字生物标志物
Artificial intelligenceRare neurological diseasesNeuroimagingElectroencephalographyDigital biomarkers
《中风与神经疾病杂志》 2026 (9)
788-794,7
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