Abstract
Background and aims: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is caused by mutations in the NOTCH3 gene and is clinically characterized by recurrent stroke and cognitive decline. One patient with a homozygous NOTCH3 mutation has been described to date. This patient was at the severe end of the clinical spectrum in CADASIL. In this study we describe a Dutch patient with a homozygous NOTCH3 mutation and compare the clinical findings to a brother with a heterozygous mutation and a sister without a mutation.
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