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

Cerebral Autosomal Dominant Arteriopathy with SubcorticalInfarcts and Leukoencephalopathy (CADASIL, MIM125310) is an inherited vascular dementia caused bymutations in the NOTCH3 gene. The clinical phenotypicspectrum of the disease is characterized by recurrent subcorticalischemic strokes and white matter lesions in brainmagnetic resonance images (MRI); additional symptomssuch as progressive cognitive disorder, mood disturbance,and migraine with aura are often observed, Here, wereport an Italian patient affected by CADASIL in whom arare missense mutation was detected on exon 22. The samepatient was included in a previous collaborative study inwhich the Italian CADASIL mutations were summarized ina review