The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP.
- Author:
Chen GAO
1
;
Qi SHI
;
Wei ZHOU
;
Chan TIAN
;
Hhui-Ying JIANG
;
Bao-Yun Zhan HAN
;
Xiao-Ping DONG
Author Information
- Publication Type:Case Reports
- MeSH: Asian Continental Ancestry Group; China; Creutzfeldt-Jakob Syndrome; genetics; Humans; Male; Middle Aged; Mutation, Missense; Prion Proteins; Prions; genetics
- From: Biomedical and Environmental Sciences 2010;23(2):158-160
- CountryChina
- Language:English
-
Abstract:
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.
