Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.

ABSTRACT

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.