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脑动静脉畸形和脑海绵状畸形的遗传学

Genetics of brain arteriovenous malformations and cerebral cavernous malformations.

作者信息

Hongo Hiroki, Miyawaki Satoru, Teranishi Yu, Ishigami Daiichiro, Ohara Kenta, Sakai Yu, Shimada Daisuke, Umekawa Motoyuki, Koizumi Satoshi, Ono Hideaki, Nakatomi Hirofumi, Saito Nobuhito

机构信息

Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.

Department of Neurosurgery, Kyorin University, Tokyo, Japan.

出版信息

J Hum Genet. 2023 Mar;68(3):157-167. doi: 10.1038/s10038-022-01063-8. Epub 2022 Jul 13.

Abstract

Cerebrovascular malformations comprise abnormal development of cerebral vasculature. They can result in hemorrhagic stroke due to rupture of lesions as well as seizures and neurological defects. The most common forms of cerebrovascular malformations are brain arteriovenous malformations (bAVMs) and cerebral cavernous malformations (CCMs). They occur in both sporadic and inherited forms. Rapidly evolving molecular genetic methodologies have helped to identify causative or associated genes involved in genesis of bAVMs and CCMs. In this review, we highlight the current knowledge regarding the genetic basis of these malformations.

摘要

脑血管畸形包括脑血管的异常发育。它们可因病变破裂导致出血性中风,以及癫痫发作和神经功能缺损。脑血管畸形最常见的形式是脑动静脉畸形(bAVM)和脑海绵状畸形(CCM)。它们以散发性和遗传性两种形式出现。快速发展的分子遗传学方法有助于识别参与bAVM和CCM发生的致病或相关基因。在这篇综述中,我们重点介绍了关于这些畸形遗传基础的当前知识。

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