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首页> 外文期刊>Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association >COL4A1 Mutation as a Cause of Familial Recurrent Intracerebral Hemorrhage
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COL4A1 Mutation as a Cause of Familial Recurrent Intracerebral Hemorrhage

机译：COL4A1作为家族性复发性脑内出血的原因

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摘要

The COL4A1 mutation is a very rare monogenic cause of small vessel disease related to recurrent intracerebral hemorrhage. We report a family in which the index case presented with two intracerebral hemorrhages in the basal ganglia with severe periventricular leukoaraiosis and a cataract and vascular tortuosity in the ophthalmological study. His twin brother also had severe leukoaraiosis and multiple subcortical microhemorrhages as well as a congenital cataract and vascular tortuosity in the retina. The older sister had a porencephalic cyst and involvement of the periventricular white matter and intracerebral hemorrhage. In single-gene testing, all three were found to have the same COL4A1 mutation.
机译：COL4A1突变是与复发性脑出血相关的小血管疾病的一种非常罕见的单基因原因。我们报告了一个家族，在眼科研究中，该指数病例表现为两例基底节脑出血，伴有严重的脑室周围脑白质疏松症，以及一例白内障和血管迂曲。他的孪生兄弟还患有严重的脑白质疏松症和多发性皮质下微出血，以及先天性白内障和视网膜血管迂曲。姐姐有一个多孔脑囊肿，累及脑室周围白质和脑出血。在单基因测试中，三种基因都被发现具有相同的COL4A1突变。

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