目的分析2010-2015年贵州省克-雅病(Creutzfeldt-Jakob disease,CJD)监测病例流行病学、临床特征、以及病例转归情况。方法对贵州省克-雅病监测网络发现的疑似病例的流行病学、临床特征以及随访资料进行分析,同时结合病例脑脊液、血液标本的实验室检测结果。结果 2010-2015年贵州省报告的23例CJD疑似病例中发现CJD病例11例,其中sCJD临床诊断病例8例,sCJD临床疑似病例2例,gCJD确诊诊断病例1例。11例病例中,首发症状以快速进行性痴呆为主要表现,其次是精神症状、锥体外系症状、小脑症状和皮质性失明;临床症状中进行性痴呆为主要症状,其次是视觉或小脑障碍、肌阵挛、锥体系/锥体外系功能异常、无动性缄默;辅助检查以头颅核磁共振(MRI)异常为主(45.45%);实验室检测脑脊液14-3-3蛋白阳性率较高(70%),血液标本中朊蛋白基因(PRNP)检测129位氨基酸多态性均为M/M型,除1例gCJD确诊诊断病例PRNP基因检测发现D178N突变外,均未发现其它位点突变。11例CJD病例无季节、地区聚集性和职业倾向,以男性为主,年龄中位数在65岁,主要为汉族。流行病学史无特殊。对所有CJD病例在报告当年进行随访,失访率27%,大多数病例均在1年内死亡。结论 2010-2015年贵州省CJD病例中以sCJD为主,其流行病学特征与同期全国监测情况相符。首次在贵州省发现1例gCJD病例,其PRNP基因突变与2011-2014年全国CJD监测网络发现的gCJD突变位点均不相同,与河南2011-2013年间报告的2例遗传型朊蛋白病病例在临床表现及PRNP基因突变位点相似。 Objective To analyze the epidemiological and clinical characteristics of patients with Creutzfeldt-Jakob disease (CJD) in Guizhou province during 2010-2015 and the outcome of cases. Methods The epidemiological, clinical characteristics and follow - up data of suspected cases found in Guizhou Creutzfeldt - Jakob Disease surveillance network were analyzed. The results of laboratory tests of cerebrospinal fluid and blood samples were also combined. Results Of the 23 CJD suspected cases reported in Guizhou Province during 2010-2015, 11 were found in CJD cases, including 8 cases of clinical diagnosis of sCJD, 2 cases of clinical suspected cases of sCJD and 1 case of diagnosed cases of gCJD. Among the 11 cases, the initial symptom was rapid dementia, followed by psychiatric symptoms, extrapyramidal symptoms, cerebellar symptoms and cortical blindness. The clinical symptoms were progressive dementia as the main symptom, followed by visual or cerebellar disorders, Myoclonus, cone system / extrapyramidal function abnormalities, no motility silence; auxiliary examination to head MRI (45.45%); laboratory detection of cerebrospinal fluid 14-3-3 protein positive rate 70%). The 129 amino acid polymorphism of prion protein (PRNP) in blood samples was M / M type. No other site mutation was found except one case of D178N mutation detected by PRNP gene in the diagnosed cases diagnosed by gCJD. Eleven cases of CJD had no seasonal, regional clustering and occupational predominance, predominantly male, with a median age of 65 years, mainly Han. Epidemiology no special history. All CJD cases were followed up for the current year, with a rate of 27% of the cases lost. Most cases died within one year. Conclusion The prevalence of sCJD in CJD cases from 2010 to 2015 in Guizhou province is the same as that of the national surveillance in the same period. One case of gCJD was found in Guizhou province for the first time. The mutation of PRNP gene was different from the gCJD mutation sites found in the national CJD surveillance network from 2011 to 2014. The two cases of genetic prion disease reported in Henan from 2011 to 2013 were Clinical manifestations and PRNP gene mutation sites similar.