The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP.
OBJECTIVE
To investigate epidemiological, clinical and genetic features of the first Chinese case of Creutzfeldt-Jakob disease (CJD ) with mutation of E200K in PRNP.


METHODS
The 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.


RESULTS
A 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.


CONCLUSIONS
The 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.
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 102206, China.
Chen
C
Gao
Qi
Q
Shi
Wei
W
Zhou
Chan
C
Tian
Hhui-Ying
HY
Jiang
Bao-Yun Zhan
BY
Han
Xiao-Ping
XP
Dong
D044466:Asian People; D002681:China; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*
C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions