Broad phenotype of cysteine-altering <i>NOTCH3</i> variants in UK Biobank

Abstract

Although community-dwelling individuals harboring a cysteine-altering <i>NOTCH3</i> 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 <i>NOTCH3</i> cysteine altering variants are associated with an extremely broad phenotypic spectrum, ranging from CADASIL to nonpenetrance.