Rinshō shinkeigaku = Clinical neurology
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Case Reports
[A case of early stage CADASIL showing only dizziness and vertigo with a novel mutation of Notch 3 gene].
We report a 39-year-old woman who presented with only dizziness and vertigo for 2 months. Neurological examination revealed no abnormalities except for hypereflexia on the left side extremities. Neurootological examination revealed no abnormalities. ⋯ Mutational analysis of Notch3 gene disclosed a novel missense mutation substituting arginine for cysteine at codon 206 (C206R) in exon 4 of the Notch3 gene, confirming the diagnosis of CADASIL. Interestingly, similar dizziness and vertigo were present not only in the patient, but also in the other two sisters who had the same gene mutation as the patient. This report supports the idea that the external capsule lesion is one of the signs suggestive of CADASIL as a diagnosis.