执笔作者机构:[1]Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing 100053, China[2]Department of Psychiatry, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China[3]Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, China[4]Department of Neurology, Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215004, China[5]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[6]Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China[7]Department of Neurology, Henan Provincial People’s Hospital, Zhengzhou, Henan 450003, China[8]Department of Psychiatry, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, NT, Hong Kong SAR 000000, China[9]Department of Neurology, Changzheng Hospital, The Second Military Medical University, Shanghai 200003, China[10]Department of Respiratory Medicine, Peking University People’s Hospital, Beijing 100044, China[11]Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China[12]Department of Neurology, Program in Neuroscience and Division of Sleep Medicine, Harvard Medical School and Beth Israel Deaconess Medical Center, Boston 02215, MA, USA[13]McGill Centre for Studies in Aging, Alzheimer’s Disease Research Unit, Montreal H4H 1R3, Canada
本院执笔作者机构:[1]Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing 100053, China
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INTRODUCTION Fatal familial insomnia (FFI) is a serious and rare prion disease,which was first reported by Lugaresi et al.in 1986.[1]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.