E200K突变的遗传型克雅氏病临床与影像学特点分析

Clinical and imaging features analysis of hereditary Creutzfeldt-Jakob disease with E200K mutation

目的探讨E200K突变的遗传型克雅氏病(genetic Creutzfeldt-Jakob disease,gCJD)的临床特征、影像学特点及EEG变化。方法回顾性分析首都医科大学宣武医院收治的1例E200K突变的gCJD患者的临床资料、影像学和遗传学资料及发病5个月后的随访结果。结果本例患者临床表现为精神行为异常、快速进展性痴呆、癫痫发作及行走不稳。影像学表现为皮层与基底节异常信号,EEG可见三相波周期性发放。基因检测提示朊蛋白(prion protein,PRNP)基因E200K突变。随访发现临床表现进行性加重,影像学表现为进行性脑萎缩与脑白质病变,发病18个月后死亡。结论E200K突变的gCJD具有朊蛋白病的一般特点,因基因型不同而表现一定的异质性。

Objective To explore the clinical,imaging features and EEG changes of genetic Creutzfeldt-Jakob disease(gCJD)with E200K mutation.Methods The clinical data,imaging,genetics and follow-up results after five months of onset of a case of gCJD with E200K mutation in Xuanwu Hospital,Capital Medical University was retrospectively analyzed.Results The patient showed abnormal mental behavior,rapidly progressive dementia,seizure and unstable walking.Imaging results showed abnormal signals in cortex and basal ganglia,and EEG showed periodic release of three-phase waves.Gene detection suggested that there was mutation of prion protein(PRNP)gene E200K.Follow-up showed that the clinical manifestations were progressive worsened,the imaging manifestations were abnormal progressive brain atrophy and white matter lesions,the patient died 18 months after onset.Conclusions gCJD with E200K mutation has the general characteristics of prion diseases,and shows certain heterogeneity due to different genotypes.