基于E200K突变的遗传性克雅氏病失眠表型研究

IF 1.9 3区生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Prion Pub Date : 2019-01-01 DOI:10.1080/19336896.2019.1590938

Eva Feketeova, Dominika Jarcuskova, Alzbeta Janakova, Marianna Vitkova, Jozef Dragasek, Zuzana Gdovinova

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引用次数: 1

摘要

本研究的目的是揭示E200K遗传性克雅氏病(gCJD)患者失眠的频率。回顾性分析22例诊断为E200K型gCJD患者的临床资料。有无失眠症患者(n = 4, 18%/n = 18, 82%)在年龄、性别和症状期持续时间上无差异。通过对两组患者临床特征的分析，发现两组患者在疾病早期临床体征、密码子129纯合子比例(Met/Met)、丘脑MRI变化及典型脑电图异常等方面存在差异。本研究提示，除了传统的临床特征外，失眠并不是E200K gCJD早期丘脑受损伤表型中罕见的早期症状。

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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, 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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来源期刊

Prion 生物-生化与分子生物学

CiteScore

5.20

自引率

4.30%

发文量

审稿时长

6-12 weeks

期刊介绍： Prion is the first international peer-reviewed open access journal to focus exclusively on protein folding and misfolding, protein assembly disorders, protein-based and structural inheritance. The goal is to foster communication and rapid exchange of information through timely publication of important results using traditional as well as electronic formats. The overriding criteria for publication in Prion are originality, scientific merit and general interest.