A Novel NOTCH3 Frameshift Deletion and Mitochondrial Abnormalities in a Patient With CADASIL

Abstract

A patient with CADASIL and a 5-base pair deletion leading to a frameshift mutation showed clinical and laboratory evidence of mitochondrial dysfunction. This adds to the previously reported hypothesis of a pathogenetic role of NOTCH3 or, less specifically, a microvascular pathologic effect on mitochondrial energy metabolism.