[肌萎缩性脊髓侧索硬化症与 ERBB4 基因的一种新致病变体有关]。

Q3 Medicine

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2024-01-01 DOI:10.17116/jnevro2024124071165

E V Pervushina, M A Kutlubaev, E V Saifullina, E V Gaisina, L A Smakova, I M Khidiyatova

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引用次数: 0

摘要

肌萎缩性脊髓侧索硬化症（ALS）在大多数病例中是一种散发性疾病；在 10-15% 的病例中有遗传形式的记录。2013年报告了一种与ERBB4基因突变（ALS19）相关的肌萎缩侧索硬化症遗传形式。ERBB4编码的一种蛋白质可能参与了ALS发病机制中无处不在的部分。我们报告了一例与ERBB4基因新的致病变异相关的肌萎缩性脊髓侧索硬化症病例，该病例早期在球部发病，10年内病情进展缓慢。

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[Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene].

Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10-15% of cases genetic forms are recorded. A genetic form of ALS associated with the mutation in the ERBB4 gene (ALS19) has been reported in 2013. A protein encoded by the ERBB4 is probably involved in ubiquitous component of the pathogenesis of ALS. We present a case of ALS associated with a new pathogenic variant of the ERBB4 gene, with early bulbar onset and slow progression of the disease within 10 years.

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来源期刊

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova 医学-精神病学

CiteScore

1.10

自引率

0.00%

发文量

287

审稿时长

3-6 weeks

期刊介绍： Одно из старейших медицинских изданий России, основанное в 1901 году. Создание журнала связано с именами выдающихся деятелей отечественной медицины, вошедших в историю мировой психиатрии и неврологии, – С.С. Корсакова и А.Я. Кожевникова. Широкий диапазон предлагаемых журналом материалов и разнообразие форм их представления привлекают внимание научных работников и врачей, опытных и начинающих медиков, причем не только неврологов и психиатров, но и специалистов смежных областей медицины.