Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / 国际脑血管病杂志

ABSTRACT

Studies in recent years have suggested that the basic characteristics of the identified cerebral autosomal dominant arteriopathy with subeortical infarcts and leukoencepha-lopathy (CADASIL) are the onset of the disorder with a form of familial hereditary, middle-age onset with progressive ischemic stroke-like course and multiple diffuse white matter lesions, the identified MRI abnormal white matter signals and pathology. Molecular genetic studies have suggested that the multiple mutations of the Notch3 gene are associated with CADASIL. The combination of gene diagnosis with peripheral tissue biopsy may be the most valuable diagnostic means before death. To study CADASIL from the aspects of pathogenesis and clinical manifestations contributes to improve clinical diagnosis rate.