Volume 23 Issue 2
Apr.  2010
Turn off MathJax
Article Contents

The First Chinese Case of Creutzfeldt-Jakob Disease with Mutation of E200K in PRNP[J]. Biomedical and Environmental Sciences, 2010, 23(2): 158-160.
Citation: The First Chinese Case of Creutzfeldt-Jakob Disease with Mutation of E200K in PRNP[J]. Biomedical and Environmental Sciences, 2010, 23(2): 158-160.

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 analyzedby 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. Conclusion 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.
  • 加载中
  • 加载中
通讯作者: 陈斌, bchen63@163.com
  • 1. 

    沈阳化工大学材料科学与工程学院 沈阳 110142

  1. 本站搜索
  2. 百度学术搜索
  3. 万方数据库搜索
  4. CNKI搜索

Article Metrics

Article views(853) PDF downloads(45) Cited by()

Proportional views
Related

The First Chinese Case of Creutzfeldt-Jakob Disease with Mutation of E200K in PRNP

Abstract: 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 analyzedby 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. Conclusion 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.

The First Chinese Case of Creutzfeldt-Jakob Disease with Mutation of E200K in PRNP[J]. Biomedical and Environmental Sciences, 2010, 23(2): 158-160.
Citation: The First Chinese Case of Creutzfeldt-Jakob Disease with Mutation of E200K in PRNP[J]. Biomedical and Environmental Sciences, 2010, 23(2): 158-160.

Catalog

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return