Unusual Clinical Presentations in Subjects Carrying Novel NOTCH3 Gene Mutations

BackgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a disease caused by alterations in the NOTCH3 gene.MethodsWe describe the clinical, instrumental, and genetic findings in CADASIL patients who carry novel NOTCH3 gene mutations.Results and conclusionsThis study broadens the spectrum of clinical manifestations and genetic alterations associated with this disease.