Disease Severity Staging System for NOTCH3 -Associated Small Vessel Disease, Including CADASIL

G Gravesteijn; JW Rutten; MN Cerfontaine; RJ Hack; YC Liao; AA Jolly; S Guey; SL Hsu; JY Park; Y Yuan; A Kopczak; N Rifino; SJ Neilson; A Poggesi; MMI Shourav; S Saito; H Ishiyama; A Domínguez Mayoral; R Nogueira; E Muiño; P Andersen; N De Stefano; G Santo; N Sukhonpanich; F Mele; A Park; JS Lee; M Rodríguez-Girondo; SJJ Vonk; A Brodtmann; A Börjesson-Hanson; L Pantoni; I Fernández-Cadenas; AR Silva; VVA Montanaro; RN Kalaria; D Lopergolo; M Ihara; JF Meschia; KW Muir; A Bersano; F Pescini; M Duering; JC Choi; C Ling; H Kim; HS Markus; H Chabriat; YC Lee; SAJ Lesnik Oberstein

Journal article

Disease Severity Staging System for NOTCH3 -Associated Small Vessel Disease, Including CADASIL

G Gravesteijn, JW Rutten, MN Cerfontaine, RJ Hack, YC Liao, AA Jolly, S Guey, SL Hsu, JY Park, Y Yuan, A Kopczak, N Rifino, SJ Neilson, A Poggesi, MMI Shourav, S Saito, H Ishiyama, A Domínguez Mayoral, R Nogueira, E Muiño Show all

JAMA Neurology | Published : 2025

DOI: 10.1001/jamaneurol.2024.4487

Open access

Abstract

Importance: Typical cysteine-altering NOTCH3 (NOTCH3cys) variants are highly prevalent (approximately 1 in 300 individuals) and are associated with a broad spectrum of small vessel disease (SVD), ranging from early-onset stroke and dementia (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [CADASIL]) to nonpenetrance. A staging system that captures the full NOTCH3-SVD severity spectrum is needed and currently lacking. Objective: To design a simple disease severity staging system that captures the broad clinicoradiological NOTCH3-SVD severity spectrum. Design, Setting, and Participants: A cohort study was performed in which the NOTCH3-SVD severity sta..

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