Disease phenotype associated with NOTCH3 variants in the community


  • Most people with the cysteine altering NOTCH3 variant display only mild and later-onset small vessel disease and may not have any neuroimaging abnormalities up to age 70.

Why this matters

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by cysteine altering NOTCH3 variants, but it has recently been shown that these NOTCH3 variants are common.

  • Understanding the relationship between NOTCH3 variants and disease phenotype will aid in diagnosis and management of cognitive disease.