Clinical and Familial Characteristics of Ten Chinese Patients with Fatal Family Insomnia

作     者：SHI Qi CHEN Cao GAO Chen TIAN Chan ZHOU Wei ZHANG BaoYun HAN Jun DONG Xiao Ping SHI Qi;CHEN Cao;GAO Chen;TIAN Chan;ZHOU Wei;ZHANG BaoYun;HAN Jun;DONG Xiao Ping

作者机构：State Key Laboratory for Infectious Diease Prevention and Control National Institute for Viral Disease Control and Prevention Chinese Center for Disease Control and Prevention Beijing 102206 China Key Laboratory of Pathogenic Microbiology and Immunology Institute of Microbiology Chinese Academy of Sciences Beijing 100101 China 

出 版 物：《Biomedical and Environmental Sciences》 (生物医学与环境科学（英文版）)

年 卷 期：2012年第25卷第4期

页      面：471-475页

核心收录：

学科分类：090603[农学-临床兽医学] 0710[理学-生物学] 071010[理学-生物化学与分子生物学] 081704[工学-应用化学] 07[理学] 08[工学] 0817[工学-化学工程与技术] 09[农学] 0906[农学-兽医学] 

基　　金：supported by China Mega-Project for Infectious Disease(2009ZX10004-101,2008ZX) SKLID Development Grant(2008SKLID102,2011SKLID211) National Basic Research Program of China(973 Program)(2007CB310505) sponsored by the Young Scholar Scientific Research Foundation of China CDC(2012A102) Chinese National Natural Science Foundation Grants 30771914 and 30800975 Institution Technique R&D Grant(2008EG150300) 

主　　题：Fatal family insomnia D178N, PRNP Creutzfeldt-Jakob disease, CJD 

摘      要：Objective Fatal familial insomnia （FFI） is an autosomal dominant prion disease characterized clinically by inattention, sleep loss, dysautonomia, and motor signs. This study is aimed to investigate clinical and familial characteristics often Chinese Patients with FFI. Methods We identified ten FFI cases from the surveillance network for Creutafeldt- Jakob disease （CJD） in *** diagnosis of FFI cases was made in accordance with the WHO criteria for *** main clinical features and family histories of these ten FFI cases were analyzed. Results The median age of ten cases at onset was 38 years （from 19 to 55）. The foremost symptoms seemed to be various, including sleep disturbances, vision disorder, dizziness and anorexia. Sleep disturbances appeared in all cases and lasted in the whole clinical courses. Progressive sympathetic symptoms, memory loss, movement disturbances, myoclonus and hypertension were also frequently observed. The median duration of the disease was 9.5 months. EEG and MRI did not figure out special abnormality. 14-3-3 protein in CSF was positive in five out of eight tested patients. Clear family histories were identified in 8 patients. Conclusion The data from our study confirm that the Chinese FFI cases have similar clinical characteristics as that of the Caucasian cases. Compared with other genetic CJD associated mutations, the genetic frequencies of D178N in PRNP are apparently high among the Chinese cases.