T188K-Familial Creutzfeldt–Jacob Disease, Predominant Among Chinese, has a Reactive Pattern in CSF RT-QuIC Different from D178N-Fatal Familial Insomnia and E200K-Familial CJD  

作　　者：Kang Xiao Qi Shi Wei Zhou Bao-Yun Zhang Yuan Wang Cao Chen Yue Ma Chen Gao Xiao-Ping Dong 

机构地区：[1]State Key Laboratory for Infectious Disease Prevention and Control,Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases (Zhejiang University),National Institute for Viral Disease Control and Prevention,Chinese Center for Disease Control and Prevention,Beijing 102206,China [2]Center for Global Public Health,Chinese Center for Disease Control and Prevention,Beijing 102206,China

出　　处：《Neuroscience Bulletin》2019年第3期519-521,共3页神经科学通报（英文版）

基　　金：supported by National Science and Technology Major Project of China(2017ZX10104001002005);the National Natural Science Foundation of China(81630062,81301429,and 81572048);National Key R&D Program(2016YFC1202700);State Key Laboratory of Infectious Disease Prevention and Control(SKLID)Program of China(2012SKLID102and 2015SKLID503)

摘　　要：Dear Editor,Human prion diseases consist of sporadic, genetic/familial, and acquired forms. The familial form accounts for 5%-15% of all human prion diseases, including familial Creutzfeldt- Jacob disease (fCJD), Gerstmann-Straussler-Scheinker syndrome, and fatal familial insomnia (FFI)[1-3]. All genetic prion diseases are directly associated with mutations (point-mutation or insertion) in the PRNP gene located on human chromosome 20 and encodes prion protein (PrP). So far,>55 mutations in the PRNP gene have been described [4]. Some PRNP mutations and their related genetic prion diseases have been reported worldwide, while others show clear region- or ethnicity-associated features.

关 键 词：Human PRION diseases sporadic ethnicity-associated features 

分 类 号：R[医药卫生]