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.
Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations
Murru R;CARBONI, NICOLA
2013-01-01
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.
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