Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) with Rare Exon 7 Mutation in Pakistan: A Clinico-Genetic Correlation

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant hereditary small vessel arteriopathy with a genetic predilection for early strokes and vascular dementia. CADASIL is a result of NOTCH3 gene mutation on chromosome 19. Typical manifestations range from migraine with aura, relapsing transient ischemic attacks (TIAs) and strokes to psychiatric symptoms, seizures and progressive dementia. This report identifies the first case of a rare C379S mutation in exon 7 of NOTCH3 in a Pakistani patient, presenting with initial symptoms of vertigo and dizziness and later with recurrent TIAs, subjective memory problems and migraines, hence expanding the spectrum of this condition.