目的探讨NOTCH3基因第5外显子C260S位点突变导致的伴有皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)家系的临床和影像学...
脑常染色体显性动脉病变伴皮层下梗死和白质脑病(Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy,CADASIL),是一种非动脉硬化性、非淀粉样变形的基因遗传性脑血管疾病,其临床主要表现为...
目的分析两个伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subeortieal infarct and leucoencephalopathy,CADASIL)家系NOTCH3基因的突变情况,为遗传咨询提供依据。方法收...