A novel mutation of the NOTCH3 gene in a young patient presenting with an acute stroke: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a significant cause of stroke in young patients, with stroke-related complications and cognitive impairment contributing to morbidity and mortality.Increasing awareness of CADASIL's clinical presentation and the availability of genetic testing has led to a rise in reported cases.CADASIL is caused by mutations in the <i>NOTCH3</i> gene, primarily involving missense substitutions and leading to cysteine residue alterations.There have been many pathogenic variants reported around the world and some families might exhibit private pathogenic variants.