Article
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, and psychiatry - 1 Jul 2021
Cho Bernard P H, Nannoni Stefania, Harshfield Eric L, Tozer Daniel, Gräf Stefan, Bell Steven, Markus Hugh S
Abstract excerpt
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. METHODS:...
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