title: A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP.
abstract: Genetic Creutzfeldt-Jakob disease (gCJD) is caused by a range of mutations in the prion protein gene (PRNP) and account for approximately 10-15% of overall human prion diseases worldwide. They are different with disease onset, disease duration, clinical signs and diagnostic findings. Here we reported a 71 year-old female with an E196K mutation in one PRNP allele, while the codon 129 was a methionine homozygous genotype. The patient started with non-specific symptoms, but displayed rapidly progressive disturbances of speech, memory, cognitive and physical movement. No periodic activity was recorded at electroencephalography (EEG) during the entire disease course. Retrospective investigation of her family members did not reveal similar neurological disorders. Total clinical course was about seven months.
authors: 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, China.
authors: Qi
authors: Q
authors: Shi
authors: Cao
authors: C
authors: Chen
authors: Xiao-Nan
authors: XN
authors: Song
authors: Chen
authors: C
authors: Gao
authors: Chan
authors: C
authors: Tian
authors: Wei
authors: W
authors: Zhou
authors: Xu-Hua
authors: XH
authors: Song
authors: Lai-Shun
authors: LS
authors: Yao
authors: Jun
authors: J
authors: Han
authors: Xiao-Ping
authors: XP
authors: Dong
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