A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL, MIM 125310) is an inherited vascular dementia caused by mutations in the NOTCH3 gene. The clinical phenotypic spectrum of the disease is characterized by recurrent subcortical ischemic strokes and white matter lesions in brain magnetic resonance images (MRI); additional symptoms such as progressive cognitive disorder, mood disturbance, and migraine with aura are often observed, Here, we report an Italian patient affected by CADASIL in whom a rare missense mutation was detected on exon 22. The same patient was included in a previous collaborative study in which the Italian CADASIL mutations were summarized in a review