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

ABSTRACT

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease.NOTCH3 missense mutation causes its coded cysteine occurring odd change and then affects the conformation and function of protein of NOTCH3.The abnormal NOTCH3 protein has vascular smooth muscle toxicity and finally deposits in the cerebral small blood vessels and causes the disease.Usually,CADASIL can be suspected by its typical clinical manifestations and neuroimaging findings.Its diagnosis needs genetic testing or skin biopsy to find the outer granular osmiophilic deposits of small vascular smooth muscle cells or immunohistochemical NOTCH3-ECD staining positive.For nearly two decades,the studies on genetics,pathogenesis,clinical manifestations,and diagnostic techniques of CADASIL have made great progress,however,many important questions have not been fully clarified and have new discoveries,such as the NOTCH3 gene mutation pattern and loci,and the relationship between gene phenotype and clinical phenotype,optimization of diagnosis process,depth study of pathogenic mechanism,exploration of new discoveries,new therapeutic targets and concepts.This article reviews the genetic characteristics,pathogenesis,and clinical diagnosis and treatment technology of CADASIL.