The aim of the presented study was to reveal the frequency of insomnia spells in E200K genetic Creutzfeldt–Jakob disease (gCJD) patients. Clinical records of 22 subjects diagnosed with E200K gCJD were retrospectively reviewed. The patients w/wo insomnia (n = 4, 18%/n = 18, 82%) did not differ in age, sex and the duration of the symptomatic phase. Analysis of the clinical features in the groups yielded differences in the clinical signs in the early phase of the disorder, proportion of homozygotes (Met/Met) at codon 129, MRI changes in the thalamus and the typical EEG abnormality. The study suggests that apart from traditional clinical features, the insomnia is not a rare early symptom in phenotype of E200K gCJD based on early thalamic involvement.

本研究的目的是揭示E200K遗传性Creutzfeldt–Jakob病（gCJD）患者失眠的频率。回顾性分析22例诊断为E200K gCJD的受试者的临床记录。w / wo失眠的患者（n = 4，18％/ n = 18，82％）的年龄，性别和症状期的持续时间没有差异。对各组临床特征的分析得出了该疾病早期的临床体征，129号密码子纯合子（Met / Met）的比例，丘脑的MRI变化和典型的EEG异常的差异。该研究表明，除了传统的临床特征外，失眠不是丘脑早期受累的E200K gCJD表型的罕见早期症状。