Association of NOTCH3 Variant Position With Stroke Onset and Other Clinical Features Among Patients With CADASIL.
Bernard P H ChoAmy A JollyStefania NannoniDaniel J TozerSteven BellHugh Stephen MarkusPublished in: Neurology (2022)
NOTCH3 variant position is a predictor of stroke and encephalopathy in CADASIL independent of cardiovascular risk factors. Lower stroke risk was found for variants in EGFRs 10-17. Molecular factors that influence CADASIL disease severity remain to be determined.