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

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。

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL） is an adult-onset, dominantly inherited disorder characterized by recurrent subcortical infarctions, dementia, and less frequently, migraine or psychiatric symptoms. Its causative gene is NOTCH3. CADASIL is the most common monogenetic hereditary cerebral vasculopathy. In this review, we will briefly introduce the clinical manifestations, molecular pathomechanism, diagnostic strategies, and suggestions of the management of CADASIL. The characteristic of CADASIL in Taiwan will be also introduced.