Clinical pathology ,neuroimaging and molecular genetics on cerebral autosomal dominat arteriopathy with subcortical infarcts and leukoencephalopathy
- VernacularTitle: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 附一个家系临床、病理、影像及分子遗传学研究
- Author:
Shuping XIE
;
Jing ZHANG
;
Dehong LU
- Publication Type:Journal Article
- Keywords:
Cerebral artery diseases;
Leukoencephalopathy, progressive multifocal;
Cerebral infarction;
Genes
- From:
Chinese Journal of Neurology
2000;0(05):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investipate the cerebral autosomal dominat arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) through the clinical features , pathology, neuroimage, and molecular genetics as well as the family tree of a case as to exploring the diagnostic method of the disease .Methods Systematic study on the clinical manifestations, genetic site, neurologic and muscular biopsy was performed. Results The main clinical features including poor memory and history of stroke were found. Neuroimaging examination showed multiinfarct lesions and leukoencephalopathy. Biopsy indicated the arteriolar hyalinosis,GOM and osmiophilic granule. A family history was confirmed. A mutation on the fourth exon of notch 3 gene was revealed. And no risk factors of hypertension and arteriosclerosis were found. All these features are in conformity with those of CADASIL.Conclusion CADAIL is not rare and is possible to be defined in vivo by way of dermal biopsy,examination of gene and neuroimage characteristics.
