A novel c.952T>C mutation in Notch3 gene in a patient with chronic non-migraine-like headache. Expanding the genotypic spectrum of CADASIL?

Cerebral autosomal dominant arteriopathy with subcortical infarctsand leukoencephalopathy (CADASIL) is the leading genetic cause of juve-nile stroke. Over 98% of CADASIL are due to mutations involving the2–24 exons ofNotch3gene located on 19p13.12.1About 230 mutationsofNotch3gene are known, most characterized by missense point muta-tions, mainly involving an extracellular domain of the protein composedof 34 epidermal growth factor (EGF)-like domains containing six highlyconserved cysteine residues.1The clinical spectrum of CADASIL isstrongly stereotyped, including ischemic and hemorrhagic strokes, cogni-tive decline, psychiatric disorders, epilepsy, and recurrent attacks ofmigraine with aura.