散发型克雅氏病临床诊断标志物研究进展

Research Progress on Clinical Diagnostic Markers of Sporadic Creutzfeldt-Jakob Disease

散发型克雅氏病(sporadic Creutzfeldt-Jakob disease,sCJD)是一类以快速进展性痴呆为突出表现的致死性神经系统变性疾病,由脑内致病性朊蛋白沉积所致。其核心病理特征为海绵状变性、胶质增生及神经元丢失。sCJD的诊断主要以其特征性的临床表现、脑脊液、脑电图及影像学等标志物为依据,但因其各亚型临床异质性大和部分标志物在疾病早期敏感度低等原因,使其早期诊断仍较困难。该综述系统总结了sCJD诊断标准的更新,并对各种标志物在不同分子亚型诊断中的优劣性及研究进展进行系统阐述。

Sporadic Creutzfeldt-Jakob disease(sCJD)is a neurodegenerative and fatal disease caused by the deposition of pathogenic prion proteins in the brain,which is characterized by rapidly progressive dementia.The main pathological features include spongiform degeneration,glial hyperplasia and neuron loss.The diagnosis of sCJD is mainly based on its characteristic clinical manifestations,cerebrospinal fluid test,electroencephalogram and imaging features.However,due to the great clinical heterogeneity of each subtype and the low sensitivity of some diagnostic markers,diagnosis of sCJD is still difficult in the early stage.This review systematically summarizes the advances in diagnostic criteria for sCJD,and made a conclusion regarding the advantages and disadvantages of various markers in the diagnosis of different molecular subtypes and the research progress.