朊蛋白病百年历史回顾  

Centennial history of prion diseases

作　　者：赵娜 岳伟[1] Zhao Na;Yue Wei(Department of Neurology,Tianjin Huanhu Hospital,Tianjin 300350,China)

机构地区：[1]天津市环湖医院神经内科,天津300350

出　　处：《中华神经医学杂志》2022年第10期1060-1066,共7页Chinese Journal of Neuromedicine

摘　　要：人们首次认识并报道朊蛋白病可追溯至1922年克雅氏病的提出。一百年来, 从对临床症状的困惑到典型组织病理学改变的描述, 从提出"朊蛋白假说"到发现朊蛋白病相关基因, 人们对朊蛋白病的认识在不断加深, 朊蛋白病也逐渐成为一组少见的传染性致死性退行性脑病的总称, 主要包括克雅氏病及其变异型、Kuru病、Gerstmann-Straussler-Scheinker综合征、家族性致死性失眠等。本文现从克雅氏病的发现入手, 详述朊蛋白病特征性病理改变的发现、传染性的验证、朊蛋白及PRNP基因的发现, 以及朊蛋白病多种亚型的临床表现、病理改变、基因突变类型等, 拟通过回顾朊蛋白病的研究历史, 帮助临床同道更深入地了解该病诊断治疗的进展及困境。Prion diseases,also known as transmissible spongiform encephalopathies(TSEs),are a rare group of transmissible and fatal neurodegenerative diseases.Since Creutzfeldt-Jakob disease was first officially named in 1992,prion diseases in humans have been studied for 100 years.From the confusion of clinical symptoms to the description of typical histopathological changes,the"prion hypothesis",and the discovery of prion diseases-related genes,the recognition and researches of prion diseases have been penetrating deeply,and prion diseases have gradually received more and more attention in neurology as a group of fatal neurodegenerative diseases,including Creutzfeldt-Jakob disease and its variants,Kuru's disease,Gerstmann-Straussler-Scheinker syndrome,and fatal familial insomnia.Based on the discovery of Creutzfeldt-Jakob disease,this article elaborates the discovery of characteristic pathological changes of prion diseases,verification of infectiability,discovery of prion protein and PRNP gene,and the clinical manifestations,pathological changes and gene mutation types of various subtypes of prion diseases.It is intended to review the research history of prion diseases to help clinical colleagues understanding the progress and dilemma of diagnosis and treatment of the diseases.

关 键 词：朊蛋白病 克雅氏病 PRNP基因 

分 类 号：R742.9[医药卫生—神经病学与精神病学]