What question did this study set out to answer?

This research aims to evaluate the clinical relevance of the NOTCH3-SVD staging system in individuals with the NOTCH3 p.R544C variant.

April 16, 2026Open Access

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

YSYing‐Chi ShenNational Taiwan University CCChao ChenBGI Group (China)HCH. H. ChenNational Yang Ming Chiao Tung University

Key Points

This research aims to evaluate the clinical relevance of the NOTCH3-SVD staging system in individuals with the NOTCH3 p.R544C variant.
Applied NOTCH3-SVD staging to Taiwanese individuals with p.R544C variant
Characterized small vessel disease according to established criteria
Assessed clinical relevance and prognostic value of the staging system
Validated the clinical applicability of NOTCH3-SVD staging for the p.R544C variant
Found correlations between staging and disease progression
Indicated potential for improved patient management strategies

Abstract

The NOTCH3-SVD staging system was developed to characterize NOTCH3-related small vessel disease (SVD), but it has not been validated in cohorts carrying a single pathogenic variant. We applied this system to Taiwanese individuals with the NOTCH3 p.R544C variant to evaluate its clinical relevance and prognostic value.

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Cite This Study

Shen et al. (Mon,) studied this question.

synapsesocial.com/papers/69e07c1e2f7e8953b7cbd91a https://doi.org/https://doi.org/10.1212/nxg.0000000000200374

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