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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an increasingly recognized cause of subcortical ischemic stroke, attacks of migraine with aura, and vascular dementia in human adults.1-3 CADASIL is an autosomal dominant condition caused by mutations within the Notch3 gene.4 Patients carry highly stereotyped missense mutations leading to an odd number of cysteine residues within one of the epidermal growth factor (EGF)-like repeats of Notch3 extracellular domain.5 We report on the first splice site mutation occurring in a somewhat peculiar CADASIL family exhibiting prominent migraine with aura features. This mutation results in an in-frame deletion of seven amino acids, including one cysteine within the second EGF domain.
Family and patients.
The main features of this family have been previously reported.6 In summary, nine subjects presented with white matter abnormalities (WMA) on T2-weighted images; among these, two were asymptomatic and seven were symptomatic. Symptoms included migraine with aura in six patients and progressive dementia in one patient. …
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