一例因 IFIH1 基因突变导致的严重艾卡迪-古蒂耶尔综合征患者的神经系统检查结果和最新文献综述。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-10-01 Epub Date: 2024-05-07 DOI:10.1055/a-2321-0597

Mojca Železnik, Tina Vipotnik Vesnaver, David Neubauer, Aneta Soltirovska-Šalamon

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引用次数: 0

摘要

艾卡迪-古铁雷斯综合征（AGS）是一种罕见的遗传性早发型进行性脑病，临床表现各异。IFIH1 基因突变已被证实可导致 I 型干扰素（IFN）的产生和 Janus 激酶（JAK）信号通路的激活。我们在此强调神经系统的观察结果和神经影像学发现，这是一例严重的病例报告，患者是一名因 IFIH1 基因突变而患 AGS 7 型的婴儿，在出生后第一个月被确诊。我们还通过最新文献回顾了 IFIH1 突变的神经学特征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation.

Aicardi-Goutières syndrome (AGS) is a rare genetic early-onset progressive encephalopathy with variable clinical manifestations. The IFIH1 mutation has been confirmed to be responsible for type I interferon production and activation of the Janus kinase signaling pathway. We herein stress neurological observations and neuroimaging findings in a severe case report of an infant with AGS type 7 due to an IFIH1 mutation who was diagnosed in the first month of life. We also review neurological characteristics of IFIH1 mutations through recent literature.

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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.