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.
Biomed Environ Sci. 2010 Apr;23(2):158-60. doi: 10.1016/s0895-3988(10)60046-3.
To investigate epidemiological, clinical and genetic features of the first Chinese case of Creutzfeldt-Jakob disease (CJD ) with mutation of E200K in PRNP.
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.
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.
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.
研究首例中国 PRNP 基因 E200K 突变所致克雅氏病（CJD）的流行病学、临床和遗传学特征。
收集患者的一般流行病学和临床资料；采用 Western blot 分析脑脊液 14-3-3 蛋白；应用 PCR 扩增 PRNP 并进行分析。
该患者 PRNP 基因第 200 密码子发生错义突变（E200K）；脑脊液 14-3-3 蛋白阳性；睡眠障碍为首发症状，逐渐出现记忆力下降、头晕和共济失调等其他症状。
首例中国报道的 CJD 患者 PRNP 基因第 200 密码子发生错义突变（E200K），129 密码子为蛋氨酸纯合基因型。
