国人Creutzfeldt-Jakob病临床、病理、免疫组化、PrP基因、14-3-3蛋白及动物传递的研究

A study of Creutzfeldt-Jakob disease in Chinese on clinical aspects,pathological changes,im- munohistochemistry,PrP gene,14-3-3 protein and animal transmission

目的探讨国人Ｃｒｅｕｔｚｆｅｌｄｔ－Ｊａｋｏｂ病（ＣＪＤ）的临床、病理及免疫组化、ＰｒＰ基因、１４－３－３蛋白及实验鼠传递结果。方法 统计２４例ＣＪＤ患者的临床资料，进行脑组织病理检查。其中１０例脑切片作ＰｒＰ免疫组化染色，１０例进行ＰｒＰ基因表达，５例脑脊液行１４－３－３蛋白检测，７例进行实验鼠传递。结果（１）２４例ＣＪＤ中散发１９例，可能为医源性３例，家族性１例，与Ａｌｚｈｅｉｍｅｒ病并存１例；（２）国人ＣＪＤ急性、亚急性发病高达９６％，急性发病者病程短，脑萎缩不明显；（３）脑组织石蜡切片以ＰｒＰ抗血清为第一抗体免疫组化染色，均呈突触型阳性；（４）１４－３－３蛋白表达对ＣＪＤ的临床诊断有特异性；（５）活检脑组织对实验鼠传递成功。结论 国人ＣＪＤ发病过程和临床表现有若干特殊性，通过１４－３－３蛋白表达，可早期确诊ＣＪＤ，其对早期发现ＣＪＤ、减少医源性传播有重要意义。

Objective To investigate the clinical features, pathological changes, immunohistochemistry , expression of PrP gene,14-3-3 protein of Creutzfeldt-Jakob disease(CJD)in Chinese and result of experimental mouse transmission. Methods Clinical data and neuropathology of 24 patients with CJD were evaluated. Brain sections of 10 cases of them were given immunostaining with antiserum to a synthetic polypetide of prion protein(PrP). PrP gene was analysed in 10 cases,and 14-3-3 protein in CSF was detected in 5 cases,experimental mouse transmission was made in 7 patients with CJD. Results (1) 19 of 24 cases with sporadic CJD, 3 cases with iatrogenic CJD, 1 case with inherited CJD and 1 case with coexistence of Alzheimer disease and CJD were found. (2) The percentage of acute and subacute onset was high up to 96%. The illness duration was shorter in acute onset patients and the brain atrophy was not obvious. (3)The synaptic type positive of PrP antiserum was shown as the first antibody immunostaining in paraffin sections in all cases. (4) 14-3-3 protein had specificity in 5 cases in cerebrospinal fluid with CJD. (5) Biopsy brain tissue was completed in experimental mouse transmission. Conclusion There were special characteristics in clinical aspects of CJD in Chinese. The detection of 14-3-3 protein could provide objective evidence for early diagnosis of CJD,and prevent the iatrogenic transmission.