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脑常染色体显性动脉病伴皮质下梗死和白质脑病的发病机制和治疗进展。

Pathogenesis and therapeutic advances of cerebral autosomal- dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

机构信息

Department of Medical Genetics and Center for Rare Diseases, and Department of Neurology in Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.

出版信息

Yi Chuan. 2023 Jul 20;45(7):568-579. doi: 10.16288/j.yczz.23-023.

Abstract

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease in adults. Many CADASIL cases were reported after was identified as the causative gene of CADASIL. However, there is still no specific and effective therapies for CADASIL. In this review, we summarize recent research progress on disease models, symptomatic treatments and potential therapies for CADASIL, thereby providing a reference for follow-up CADASIL treatment research.

摘要

伴有皮质下梗死和白质脑病的脑常染色体显性遗传性动脉病(CADASIL)是成年人中最常见的遗传性脑小血管病。在 被确定为 CADASIL 的致病基因后,报道了许多 CADASIL 病例。然而,目前仍没有针对 CADASIL 的特异性和有效治疗方法。在这篇综述中,我们总结了 CADASIL 的疾病模型、对症治疗和潜在治疗方法的最新研究进展,为后续 CADASIL 治疗研究提供参考。

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