Serum NOTCH3Extracellular Domain in Patients With CADASIL
These findings suggest that serum N3ECD alone has limited value as a standalone diagnostic marker for CADASIL. However, the age-dependent increase in N3ECD levels observed in specific variant carriers may reflect underlying pathophysiologic changes and could serve as a clue to disease progression. Further studies are warranted to clarify the mechanistic role of N3ECD in CADASIL and to evaluate its potential as a marker for monitoring disease progression or therapeutic response. Continued biomarker discovery efforts are needed to improve diagnosis and management of CADASIL.
Authors
- Young Ree Kim (ORCID: https://orcid.org/0000-0003-2454-8815)
- Yumi Yamamoto (ORCID: https://orcid.org/0000-0001-7188-9618)
- Ho Kyu Lee (ORCID: https://orcid.org/0000-0001-7028-3964)
- Masafumi Ihara (ORCID: https://orcid.org/0000-0002-7102-4048)
- Man‐Seok Park (ORCID: https://orcid.org/0000-0002-0637-5394)
- Jin‐Man Jung (ORCID: https://orcid.org/0000-0003-0557-6431)
- Chi Kyung Kim (ORCID: https://orcid.org/0000-0002-0423-7297)
- Mi Hee Kong (ORCID: https://orcid.org/0000-0003-1464-8812)
- Hiroyuki Ishiyama (ORCID: https://orcid.org/0000-0003-0071-7338)
- Eunsun Park
- Sung‐Il Sohn (ORCID: https://orcid.org/0000-0002-6900-1242)
- Dong‐Eog Kim (ORCID: https://orcid.org/0000-0002-9339-6539)
- Hee‐Joon Bae (ORCID: https://orcid.org/0000-0003-0051-1997)
- Jay Chol Choi (ORCID: https://orcid.org/0000-0002-3550-2196)
- Satoshi Saitô (ORCID: https://orcid.org/0000-0001-8608-058X)
- Bo Gun Jang (ORCID: https://orcid.org/0000-0003-4683-8338)
- Hyeon Ju Kim (ORCID: https://orcid.org/0000-0002-9103-3275)
- Keon‐Joo Lee (ORCID: https://orcid.org/0000-0002-6571-7091)
- Ji‐Hoon Kang (ORCID: https://orcid.org/0000-0002-4017-2056)
- Jung Seok Lee (ORCID: https://orcid.org/0000-0002-4899-5145)
- So Young Yun
- H.S. Kim (ORCID: https://orcid.org/0000-0003-1297-7081)
Institutions
- Korea University Medical Center (KR)
- Seoul National University Bundang Hospital (KR)
- Chonnam National University Hospital (KR)
- Dongguk University Ilsan Hospital (KR)
- National Cerebral and Cardiovascular Center (JP)
- Keimyung University Dongsan Medical Center (KR)
- Korea University (JP)
- Jeju National University Hospital (KR)
- Keimyung University (KR)
- Jeju National University (KR)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-10-28
- DOI
- https://doi.org/10.1212/nxg.0000000000200321
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00