There is much variability in the presentation of CADASIL, both in clinical features and radiological features seen on MRI. This study aimed to develop a severity staging scale which incorporates both clinical and MRI features of CADASIL, to more accurately describe its spectrum and itsstages.
The scale, named the ‘NOTCH3-SVD staging system’ has 9 stages which range from pre-manifest at stage 0 (no symptoms) to stage 9 (end stage). The authors hope that this scale will allow for more uniformity across CADASIL doctors and researchers in understanding and describing the stages of CADASIL.
Reference:
Gravesteijn G, Rutten JW, Cerfontaine MN, Hack RJ, Liao YC, Jolly AA, Guey S, Hsu SL, Park JY, Yuan Y, Kopczak A, Rifino N, Neilson SJ, Poggesi A, Shourav MMI, Saito S, Ishiyama H, Domínguez Mayoral A, Nogueira R, Muiño E, Andersen P, De Stefano N, Santo G, Sukhonpanich N, Mele F, Park A, Lee JS, Rodríguez-Girondo M, Vonk SJJ, Brodtmann A, Börjesson-Hanson A, Pantoni L, Fernández-Cadenas I, Silva AR, Montanaro VVA, Kalaria RN, Lopergolo D, Ihara M, Meschia JF, Muir KW, Bersano A, Pescini F, Duering M, Choi JC, Ling C, Kim H, Markus HS, Chabriat H, Lee YC, Lesnik Oberstein SAJ. Disease Severity Staging System for NOTCH3-Associated Small Vessel Disease, Including CADASIL. JAMA Neurol. 2025 Jan 1;82(1):49-60. doi: 10.1001/jamaneurol.2024.4487. PMID: 39610302. Click here for PubMed abstract.