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.
Gao
Chen
C
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.
Shi
Qi
Q
Zhou
Wei
W
Tian
Chan
C
Jiang
Hhui-Ying
HY
Han
Bao-Yun Zhan
BY
Dong
Xiao-Ping
XP
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