CADASIL: Main lessons from translational research

Abstract

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is now recognized as the most frequent cerebrovascular disease of genetic origin. The disease is caused by mutations of the NOTCH3 gene and is now easily diagnosed worldwide. Over the last decades, multiple studies and observations at clinical and preclinical level allowed to understand the natural history of the disease, progression of clinical manifestations, development of cerebral tissue lesions, phenotypic variability as well as some key molecular players at vascular level and their potential relationships with accumulating white matter lesions in the mouse model.