Work

Prognostic Significance of NOTCH3 Small Vessel Disease Staging for the NOTCH3 p.R544C Variant

Year: 2026

Type: article

Abstract: Background and Objectives: p.R544C variant to evaluate its clinical relevance and prognostic value. Methods: -SVD staging system, ranging from stage 0 (premanifest stage) to stage 4B (end stage). Baseline characteristics were compared across stages. Multivariable models were used to identify factors associated with prior stroke or cognitive impairment. Stroke-free survival was analyzed using Kaplan-Meier curves and Cox proportional hazards models. Cognitive decline, assessed by Mini-Mental State Examination, was evaluated using a generalized estimating equation. Results: = 0.023; adjusted hazard ratio 3.38; 95% CI 1.10-10.4, adjusted for age and hypertension). MMSE scores declined progressively over 2 years in individuals with stage ≥2B, whereas those with stage <2B remained cognitively stable (p for interaction = 0.024). Discussion: p.R544C, with stage ≥2B indicating a higher risk.

Source: Neurology Genetics

DOI: 10.1212/nxg.0000000000200374