<i>NO</i> <i>TCH3</i> variant position is associated with NOTCH3 aggregation load in CADASIL vasculature

Abstract

CADASIL patients with an EGFr 7-34 variant have significantly less vascular NOTCH3 aggregation than patients with an EGFr 1-6 variant. This may be one of the factors underlying the difference in disease severity between NOTCH3^cys EGFr 7-34 and EGFr 1-6 variants.