BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts 
and leukoencephalopathy (CADASIL) is a disease caused by alterations in the 
NOTCH3 gene.
METHODS: We describe the clinical, instrumental, and genetic findings in CADASIL 
patients who carry novel NOTCH3 gene mutations.
RESULTS AND CONCLUSIONS: This study broadens the spectrum of clinical 
manifestations and genetic alterations associated with this disease.