Association Between Vascular <scp>NOTCH3</scp> Aggregation and Disease Severity in a <scp>CADASIL</scp> Cohort – Implications for <scp><i>NOTCH3</i></scp> Variant‐Specific Disease Prediction
These findings suggest that differences in NOTCH3 aggregation propensity underlie the differences in disease severity associated with NOTCH3 cysteine-altering variants, and show that NOTCH3-variant specific NOTCH3 scores can contribute to improved individualized disease prediction in CADASIL. ANN NEUROL 2025;98:273-285.
Authors
- Julie W. Rutten (ORCID: https://orcid.org/0000-0003-3250-7263)
- Saskia A.J. Lesnik Oberstein (ORCID: https://orcid.org/0000-0002-1268-8995)
- Kyra L. Dijkstra (ORCID: https://orcid.org/0000-0002-6181-3983)
- Minne N. Cerfontaine (ORCID: https://orcid.org/0000-0001-9357-270X)
- Remco J. Hack (ORCID: https://orcid.org/0000-0001-9302-5802)
- Remco van Doorn (ORCID: https://orcid.org/0000-0002-7019-6673)
- Marie‐Noëlle W. Witjes‐Ané (ORCID: https://orcid.org/0000-0002-5904-3967)
- Gido Gravesteijn (ORCID: https://orcid.org/0000-0002-2610-8728)
- Benno Gesierich (ORCID: https://orcid.org/0000-0003-2842-7105)
- Mar Rodríguez‐Girondo (ORCID: https://orcid.org/0000-0003-3126-1003)
- Marco Duering (ORCID: https://orcid.org/0000-0003-2302-3136)
Institutions
- University of Basel (CH)
- Leiden University Medical Center (NL)
Publication Details
- Journal
- Annals of Neurology
- Published
- 2025-04-23
- DOI
- https://doi.org/10.1002/ana.27240
- Citations
- 2
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.78
Funders
- ZonMw
- Hersenstichting