The Insomnia Phenotype in Genetic Creutzfeldt-Jakob Disease Based on the E200K Mutation

Overview

Journal Prion

Specialty Biochemistry

Date 2019 Mar 30

PMID 30922182

Authors

Eva Feketeova

Dominika Jarcuskova

Alzbeta Janakova

Marianna Vitkova

Jozef Dragasek

Zuzana Gdovinova

Affiliations

Soon will be listed here.

Abstract

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.

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