Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.

Julie W RuttenRemco J HackMarco DueringGido GravesteijnJohannes G DauwerseMaurice OverzierErik Ben van den AkkerEline SlagboomHenne HolstegeKwangsik NhoAndrew J SaykinMartin DichgansRainer MalikSaskia A J Lesnik Oberstein

Published in: Neurology (2020)

Although community-dwelling individuals harboring a cysteine-altering NOTCH3 variant have a higher small vessel disease MRI burden than controls, almost half have no MRI abnormalities up to age 70 years. This shows that NOTCH3 cysteine altering variants are associated with an extremely broad phenotypic spectrum, ranging from CADASIL to nonpenetrance.

Keyphrases

community dwelling
fluorescent probe
contrast enhanced
cell proliferation
magnetic resonance imaging
living cells
copy number
diffusion weighted imaging
cross sectional
gene expression
risk factors
single molecule