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A Novel COL4A2 Mutation Associated with Recurrent Strokes.
Journal of Stroke & Cerebrovascular Diseases ( IF 2.0 ) Pub Date : 2020-07-25 , DOI: 10.1016/j.jstrokecerebrovasdis.2020.105156
Daryl C McHugh 1 , Charles Esenwa 1
Affiliation  

Mutations in type four collagens, specifically COL4A1 and COL4A2, have been associated with cerebral small vessel disease (SVD), defined as lacunar infarcts, deep intracerebral hemorrhages (ICH), and leukoaraiosis. We present a case of a man with recurrent cerebral infarcts, related to a novel COL4A2 mutation, the p.A1534S variant. Magnetic resonance imaging demonstrated multiple lacunar infarcts, numerous deep and lobar microhemorrhages and advanced leukoaraiosis. Evaluation for COL4A2 mutations should be considered when suspecting a genetic cerebral small vessel disease.



中文翻译:

与复发性卒中相关的新型COL4A2突变。

四种胶原蛋白(特别是COL4A1和COL4A2)的突变与脑小血管疾病(SVD)有关,脑小血管疾病定义为腔隙性脑梗塞,深部脑出血(ICH)和白斑病。我们介绍了一例复发性脑梗死的病例,该病例与新型COL4A2突变p.A1534S变体有关。磁共振成像显示多发腔隙性梗塞,无数深部和大叶微出血和晚期白质疏松症。当怀疑遗传性脑小血管疾病时,应考虑评估COL4A2突变。

更新日期:2020-07-26
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