常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病研究进展

›› 2010, Vol. 5 ›› Issue (07): 573-578.

常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病研究进展

李宜中，宋秉文，翁文章

收稿日期:2010-03-12 修回日期:2010-02-12 出版日期:2010-07-20 发布日期:2010-07-20
通讯作者: 宋秉文

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts andLeukoencephalopathy

LEE Yi-Chung, SOONG Bing-Wen, WONG Wen-Jang.

Received:2010-03-12 Revised:2010-02-12 Online:2010-07-20 Published:2010-07-20
Contact: SOONG Bing-Wen

摘要/Abstract

摘要： 常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病（Cerebral autosomal dominantarteriopathy with subcortical infarcts and leukoencephalopathy，CADASIL）是一种在成人时发病且以显性方式遗传的小动脉血管病变。它的临床特征主要为反复性的脑皮质下梗死及痴呆症，在少数的患者身上同时可见先兆性偏头痛及精神疾病方面的症状。它的致病基因是NOTCH3。CADASIL是最常见的因为单基因变异所造成的遗传性脑血管病变。该文简单介绍CADASIL的临床症状、分子遗传致病机制、诊断方法、在台湾的现况以及治疗与预防建议。

关键词: CADASIL; 脑动脉疾病; NOTCH3

Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts andleukoencephalopathy (CADASIL) is an adult-onset, dominantly inherited disorder characterizedby recurrent subcortical infarctions, dementia, and less frequently, migraine or psychiatricsymptoms. Its causative gene is NOTCH3. CADASIL is the most common monogenetichereditary cerebral vasculopathy. In this review, we will brief ly introduce the clinicalmanifestations, molecular pathomechanism, diagnostic strategies, and suggestions of themanagement of CADASIL. The characteristic of CADASIL in Taiwan will be also introduced.

Key words: CADASIL; Cerebral arterial diseases; NOTCH3

李宜中;宋秉文;翁文章. 常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病研究进展[J]. , 2010, 5(07): 573-578.

LEE Yi-Chung;SOONG Bing-Wen;WONG Wen-Jang.. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts andLeukoencephalopathy[J]. , 2010, 5(07): 573-578.

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