Article
Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases - 1 Mar 2013
Chen Cao, Shi Qi, Zhou Wei, Zhang Xiu-Chun, Dong Jian-Hua, Hu Xing-Qiang, Song Xiao-Nan, Liu Ai-Fen, Tian Chan, Wang Ji-Chun, Gao Chen, Zhang Jin, Han Jun, Dong Xiao-Ping
Abstract excerpt
Eight cases of rare genetic Creutzfeldt-Jakob disease (gCJD) with a mutation T188K in PRNP have been identified and diagnosed genetically in China since 2006. Among the eight cases, the median age of disease onset was 58years old (ranging from 39 to 76years old). Progressive dementia and pyramidal or extrapyramidal dysfunction appeared in all cases and lasted during the entire clinical course. Myoclonus and...
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