NOTCH3基因纯合突变的CADASIL患者的突变特点及临床表现分析

• 作 者: 何若洁[1]李欢[1]孙毅明[2]陈孟龙[3]王倞[1]朱瑜龄[1]张成[1]
• 机 构: 中山大学附属第一医院神经科,510080
• 出 处: 第二十届国际神经病学中山高峰论坛
• 发表日期: 2017年期

　　Background.: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations in NOTCH3 with remarkable phenotypic heterogeneity.CADASIL cases caused by homozygous NOTCH3 mutations are rare and subsequently understudied.In this study we investigate mutational and clinical features within homozygous patients with CADASIL.