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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Feketeova, Eva, Jarcuskova, Dominika, Janakova, Alzbeta, Vitkova, Marianna, Dragasek, Jozef, Gdovinova, Zuzana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2019
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000144/
https://www.ncbi.nlm.nih.gov/pubmed/30922182
http://dx.doi.org/10.1080/19336896.2019.1590938
_version_ 1783493987178381312
author Feketeova, Eva
Jarcuskova, Dominika
Janakova, Alzbeta
Vitkova, Marianna
Dragasek, Jozef
Gdovinova, Zuzana
author_facet Feketeova, Eva
Jarcuskova, Dominika
Janakova, Alzbeta
Vitkova, Marianna
Dragasek, Jozef
Gdovinova, Zuzana
author_sort Feketeova, Eva
collection PubMed
description 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.
format Online
Article
Text
id pubmed-7000144
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Taylor & Francis
record_format MEDLINE/PubMed
spelling pubmed-70001442020-02-19 The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation Feketeova, Eva Jarcuskova, Dominika Janakova, Alzbeta Vitkova, Marianna Dragasek, Jozef Gdovinova, Zuzana Prion Short Communication 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. Taylor & Francis 2019-03-28 /pmc/articles/PMC7000144/ /pubmed/30922182 http://dx.doi.org/10.1080/19336896.2019.1590938 Text en © 2019 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Short Communication
Feketeova, Eva
Jarcuskova, Dominika
Janakova, Alzbeta
Vitkova, Marianna
Dragasek, Jozef
Gdovinova, Zuzana
The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation
title The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation
title_full The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation
title_fullStr The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation
title_full_unstemmed The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation
title_short The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation
title_sort insomnia phenotype in genetic creutzfeldt–jakob disease based on the e200k mutation
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000144/
https://www.ncbi.nlm.nih.gov/pubmed/30922182
http://dx.doi.org/10.1080/19336896.2019.1590938
work_keys_str_mv AT feketeovaeva theinsomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation
AT jarcuskovadominika theinsomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation
AT janakovaalzbeta theinsomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation
AT vitkovamarianna theinsomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation
AT dragasekjozef theinsomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation
AT gdovinovazuzana theinsomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation
AT feketeovaeva insomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation
AT jarcuskovadominika insomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation
AT janakovaalzbeta insomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation
AT vitkovamarianna insomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation
AT dragasekjozef insomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation
AT gdovinovazuzana insomniaphenotypeingeneticcreutzfeldtjakobdiseasebasedonthee200kmutation

Ejemplares similares