The NOTCH3 p.R544C mutation increases the risk of small vessel occlusion (SVO) stroke in the Chinese population, and phenotypic variations suggest that the disease course of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can be modified.
Why this matters
CADASIL is usually caused by a NOTCH3 mutation and results in recurrent ischemic events in early or middle adulthood, along with other neurological issues. While CADASIL is considered rare, its prevalence is higher in the Asian population.
Early detection of carriers of the NOTCH3 mutation may improve treatment outcomes by increasing treatment and monitoring in this population.