1.The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP.
Chen GAO ; Qi SHI ; Wei ZHOU ; Chan TIAN ; Hhui-Ying JIANG ; Bao-Yun Zhan HAN ; Xiao-Ping DONG
Biomedical and Environmental Sciences 2010;23(2):158-160
OBJECTIVETo investigate epidemiological, clinical and genetic features of the first Chinese case of Creutzfeldt-Jakob disease (CJD ) with mutation of E200K in PRNP.
METHODSThe general epidemiological and clinical data were collected; CSF 14-3-3 protein was analyzed by Western blot; The PRNP was amplified by PCR and analyzed.
RESULTSA missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia.
CONCLUSIONThe CJD patient who was first reported in China has a missense mutation in codon 200 (E200K) of the PRNP, and the codon 129 is a methionine homozygous genotype.
Asian Continental Ancestry Group ; China ; Creutzfeldt-Jakob Syndrome ; genetics ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Prion Proteins ; Prions ; genetics