E V Pervushina, M A Kutlubaev, E V Saifullina, E V Gaisina, L A Smakova, I M Khidiyatova
{"title":"[Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene].","authors":"E V Pervushina, M A Kutlubaev, E V Saifullina, E V Gaisina, L A Smakova, I M Khidiyatova","doi":"10.17116/jnevro2024124071165","DOIUrl":null,"url":null,"abstract":"<p><p>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 <i>ERBB4</i> gene (ALS19) has been reported in 2013. A protein encoded by the <i>ERBB4</i> 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 <i>ERBB4</i> gene, with early bulbar onset and slow progression of the disease within 10 years.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"124 7","pages":"165-168"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17116/jnevro2024124071165","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
