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Protein amplification technology:New advances in human prion disease diagnosis

Biosafety and Health 2021年第6期3卷 325-332页

作者： Jingxing Wu Dongdong Chen Qi Shi Xiaoping Dong State Key Laboratory for Infectious Disease Prevention and Control National Institute for Viral Disease Control and PreventionChinese Center for Disease Control and PreventionBeijing 102206China

Early and accurate diagnosis of human prion diseases is a long-standing difficulty.Currently,the definitive diagnosis of human prion diseases relies on pathognomonic histological features or PrPSc detection of patients'brain tissue biopsy or autopsy samples,which is not feasible in most cases.Therefore,clinical diagnosis mainly relies on the combinations of the patient’s clinical symptoms.MRI and EEG are used to check for brain damage and detect surrogate markers such as the 14-3-3 protein in Cerebrospinal fluid(CSF),but this is often challenging.In recent years,the development of in vitro cell-free conversion techniques,such as technologies protein misfolding cyclic amplification(PMCA)and real-time quaking-induced conversion(RT-QuIC),have extensively promoted the diagnosis of human prion diseases.PMCA has high diagnostic accuracy in the blood,CSF,and urine samples of variant creutzfeldt–jakob disease(vCJD)patients.Again,RT-QuIC has high diagnostic accuracy for cerebrospinal fluid,olfactory mucosa,and skin samples of sporadic Creutzfeldt Jakob Disease(sCJD)patients.Applying these two technologies is of great significance to the early clinical diagnosis of human prion diseases and the reduction of blood-borne and iatrogenic transmission of prion.

关键词： PMCA RT‐QuIC human prion diseases

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Expert Consensus on Clinical Diagnostic Criteria for Fatal Familial Insomnia

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Chinese Medical Journal 2018年第13期131卷 1613-1617页

作者： Li-Yong Wu Shu-Qin Zhan Zhao-Yang Huang Bin Zhang Tao Wang Chun-Feng Liu Hui Lu Xiao-Ping Dong Zhi-Ying Wu Jie-Wen Zhang Ji-Hui Zhang Zhong-Xin Zhao Fang Han Yah Huang Jun Lu Serge Gauthier Jian-Ping Jia Yu-Ping Wang Department of Neurology Xuan Wu Hospital Capital Medical University Belling 100053 China Department of Psychiatry Nanfang Hospital Southern Medical University Guangzhou Guangdong 510515 China Department of Neurology Union Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan Hubei 430022 China Department of Neurorogy Second Affiliated Hospital of Soochow University Suzhou Jiangsu 215004 China State Key Laboratory for Infectious Disease Prevention and Control National Institute for Viral Disease Control and Prevention Chinese Center for Disease Control and Prevention Beijing 100050 China Department of Neurology and Research Center of Neurology Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou Zhejiang 310009 China Department of Neurology Henan Provincial People's Hospital Zhengzhou Henan 450003 China Department of Psychiatry Faculty of Medicine The Chinese University of Hong Kong Shatin NT Hong Kong SAR 000000 China Department of Neurology Changzheng Hospital The Second Military Medical University Shanghai 200003 China Department of Respiratory Medicine Peking University People's Hospital Beijing 100044 China Department of Neurology Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing 100730 China Department of Neurology Program in Neuroscience and Division of Sleep Medicine Harvard Medical School and Beth Israel Deaconess Medical Center Boston 02215 MA USA McGill Centre for Studies in Aging Alzheimer's Disease Research Unit Montreal H4H 1R3 Canada

INTRODUCTION Fatal familial insomnia （FFI） is a serious and rare prion disease, which was first reported by Lugaresi et al. in 1986.Early diagnosis of FFI might be important for early and sufficient counseling of patients and their relatives, also concerning the risk of inheritance, and potentially also for treatment studies. However, the diagnosis of FFI might be difficult because of the heterogeneity of clinical features, low sensitivity of diagnostic tests, and absence of family history. The aim of the present study was to develop a clinical scheme and diagnostic criteria for FFI based on our research and expert consensus.

关键词： human prion diseases CREUTZFELDT-JAKOB-DISEASE PROTEIN NEUROPATHOLOGY DEGENERATION FEATURES DISORDERS THALAMUS MUTATION ONSET

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