An in trans NOTCH3 loss-of-function variant modifies disease severity in CADASIL: A family-based study

Key Points

• To investigate how a NOTCH3 loss-of-function variant affects the severity of CADASIL.
• Conducted a family-based study
• Analyzed NOTCH3 gene variants
• Evaluated disease severity among family members
• Identified a NOTCH3 loss-of-function variant
• Observed modified disease severity in affected family members
• Demonstrated genetic influence on CADASIL outcomes

Abstract