Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
10.3760/cma.j.issn.1673-4165.2009.01.012
- VernacularTitle:伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病
- Author:
Shichao WANG
;
Baojun WANG
- Publication Type:Journal Article
- Keywords:
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;
Notch3
- From:
International Journal of Cerebrovascular Diseases
2009;17(1):48-52
- CountryChina
- Language:Chinese
-
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.
