颅内海绵状血管畸形：从分子发病机制到遗传咨询和临床管理。
Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.
机构信息
Molecular Cardiology Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands.
出版信息
Eur J Hum Genet. 2012 Feb;20(2):134-40. doi: 10.1038/ejhg.2011.155. Epub 2011 Aug 10.
Abstract
Cerebral cavernous (or capillary-venous) malformations (CCM) have a prevalence of about 0.1-0.5% in the general population. Genes mutated in CCM encode proteins that modulate junction formation between vascular endothelial cells. Mutations lead to the development of abnormal vascular structures.In this article, we review the clinical features, molecular and genetic basis of the disease, and management.
摘要
脑海绵状（或毛细血管-静脉）畸形（CCM）在普通人群中的患病率约为 0.1-0.5%。CCM 中突变的基因编码调节血管内皮细胞之间连接形成的蛋白质。突变导致异常血管结构的形成。本文回顾了该疾病的临床特征、分子和遗传基础以及治疗方法。
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A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.一种基于双打击突变假说的新型脑动静脉畸形小鼠模型重现了人类疾病。
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