克雅病是一类由具有传染性的致病朊蛋白所致的致死性中枢神经系统变性疾病。该病早期临床表现多样，缺乏特异性，难以与其他中枢神经系统疾病相鉴别。目前，研究者们在克雅病的影像学、脑电图、脑脊液特殊蛋白检测等方面已经进行了长期的探索和临床实践，而近年来的致病朊蛋白检测新方法的发展更是为该病的早期诊断提供了巨大帮助，具有着极大的临床应用前景。笔者现围绕近年来克雅病的流行病学及分型、病因及病理机制，尤其是其早期诊断生物标志物等方面的研究进展进行综述，以期帮助临床同道进一步提高对克雅病的认识。“,”Creutzfeldt-Jakob disease is a type of fatal central nervous system degeneration caused by infectious pathogenic prion protein. The early clinical manifestations of the disease are diverse and lack of specificity, so it is difficult to distinguish it from other neurological diseases. Researchers have made long-term exploration and clinical applications in imaging, electroencephalography, and detection of special proteins in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. In recent years, the development of new methods for the detection of pathogenic prion protein has provided great help for the early diagnosis of the disease, and it has great clinical application prospects. This article reviews the current research on the epidemiology, etiology and pathological mechanism and early diagnosis biomarkers of Creutzfeldt-Jakob disease, in order to help clinical colleagues to further enhance the understanding of Creutzfeldt-Jakob disease.