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目的:Creutzfeldt-Jakob病(CJD)是朊蛋白病的一种亚型,绝大多数CJD为散发,少部分CJD可有朊蛋白编码基因PNRP基因突变引起。方法:收集一例CJD患者临床资料,在该患者中进行脑脊液14-3-3蛋白定量检测;从外周静脉血提取基因组DNA,应用聚合酶链反应联合Sanger测序对PNRP基因进行筛查。结果:本例患者脑脊液14-3-3蛋白阳性;PRNP全序列测定与标准序列比对序出现E200K突变。结论:发现一例PRNP基因E200K突变导致的遗传性CJD,其临床表现与散发性CJD类似,这一结果提示在散发性CJD患者中仍应注意是否有PRNP基因突变导致CJD的可能。
AIM: Creutzfeldt-Jakob disease (CJD) is a subtype of prion disease. Most CJDs are emasculated and a small proportion of CJDs may be caused by mutations in the prion protein coding gene PNRP. Methods: The clinical data of one CJD patient were collected. Quantitative detection of 14-3-3 protein in cerebrospinal fluid was performed in this patient. Genomic DNA was extracted from peripheral venous blood and the PNRP gene was screened by polymerase chain reaction and Sanger sequencing. Results: The 14-3-3 protein of cerebrospinal fluid was positive in this case. The E200K mutation appeared in the sequence comparison of PRNP with the standard sequence. Conclusion: A case of hereditary CJD caused by E200K mutation of PRNP gene is found. The clinical manifestation is similar to that of sporadic CJD. This result suggests that it is still possible to pay attention to the possibility of mutation of PRNP gene leading to CJD in sporadic CJD patients.