Clinical pathology ,neuroimaging and molecular genetics on cerebral autosomal dominat arteriopathy with subcortical infarcts and leukoencephalopathy / 中华神经科杂志

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.