The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation

摘要

The aim of the presented study was to reveal the frequency of insomnia spells in E200K geneticCreutzfeldt–Jakob disease (gCJD) patients. Clinical records of 22 subjects diagnosed with E200KgCJD were retrospectively reviewed. The patients w/wo insomnia (n = 4, 18% = 18, 82%) did notdiffer in age, sex and the duration of the symptomatic phase. Analysis of the clinical features inthe groups yielded differences in the clinical signs in the early phase of the disorder, proportion ofhomozygotes (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 rareearly symptom in phenotype of E200K gCJD based on early thalamic involvement.