CADASIL: DESCRIPTION OF A NEW FAMILY IN GREECE AND REVIEW OF THE LITERATURE

Abstract

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) is the most common inherited cause of stroke and dementia in adults. Hitherto, five Greek families have been described. We report a new Greek family with CADASIL, we conduct a comprehensive review of the literature and we underscore the diagnostic pitfalls of the syndrome. In particular, we present two brothers -49 and 53-years-old today- in whom the MRI investigation for focal neurologic deficits disclosed extensive leucoencephalopathy compatible with CADASIL. Genetic testing conducted at the European reference laboratory for CADASIL showed a classical mutation of the NOTCH3 gene (Arg169Cys).