【摘要】 克雅病(creutzfeldt-jakob disease,CJD)是一种神经系统退行性疾病,临床少见,其早期诊断较困难。目前诊断CJD的分子手段有3种:免疫组织化学、基因检测及脑蛋白标志物。免疫组织化学法发现异常朊蛋白是确诊的金标准,但是很大部分患者生前无法接受脑组织的免疫组织化学检查;基因检测可对CJD的分型及家族性CJD的诊断提供依据,但不是所有朊蛋白基因突变均会导致CJD;脑蛋白标志物的检测在临床上较实用,但所有脑蛋白标志物均有特异性的缺陷。本文旨在总结CJD在分子水平上的研究结果及进展。更多还原

【Abstract】 Creutzfeldt-jakob disease(CJD) is a rare neurodegenerative disorder.The diagnosis of it is extremely difficult in its early stages.There are 3 diagnostic methods at the molecular level:immunohistochemistry,gene detection,and measurement of brain protein biomarkers.A definite diagnosis of CJD is obtained following the demonstration of the pathologic prion isoform in brain tissues,but a substantial proportion of the cases are not subjected to neuropathology.Although gene detection can provide a basis for the typing and the diagnosis of CJD,not all of the prion protein gene mutation will lead to CJD.The detections of brain protein biomarkers are relatively practical clinically,but all of the brain protein markers are with specific defects.In this paper,the research results and progress of CJD at the molecular level will be summarized.更多还原