基于E200K突变的遗传性克雅氏病失眠表型研究

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research 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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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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

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.