NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants

Journal of Neurology, Neurosurgery & Psychiatry

Fecha de publicación: 21 de marzo de 2021

Autores: Bernard P H Cho, Stefania Nannoni, Eric L Harshfield1, Daniel Tozer1, Stefan Gräf, Steven Bell, Hugh S Markus

DOI: 2021;92:694-701.

Background: Cysteine-altering NOTCH3 variants identical to those causing the rare monogenic form of stroke, CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), have been reported more common than expected in the general population, but their clinical significance and contribution to stroke and dementia risk in the community remain unclear.