Serum NOTCH3Extracellular Domain in Patients With CADASIL
Year: 2025
Type: article
Study design: Observational Study
Abstract: Background and Objectives: gene. The extracellular domain of NOTCH3 (N3ECD) has been proposed as a potential serum biomarker for CADASIL. However, its diagnostic utility remains uncertain. The aim of this study was to evaluate serum N3ECD levels in patients with CADASIL and assess their potential as a diagnostic or prognostic biomarker. Methods: Serum N3ECD levels were measured using ELISA in 2 independent CADASIL cohorts: a Korean cohort (n = 78) and a Japanese cohort (n = 64). Each group included patients with genetically confirmed CADASIL. In addition, the Korean cohort included age-matched and sex-matched healthy controls and patients with sporadic ischemic stroke. Statistical analyses assessed group differences and correlations with clinical and radiologic features. Results: = 0.014). No significant associations were found between N3ECD levels and MRI markers or clinical outcomes such as stroke occurrence or cognitive impairment. Discussion: 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.
Source: Neurology Genetics
Authors: Hyesung Kim, Hyesung Kim, Yumi Yamamoto, Young Ree Kim, Keon-Joo Lee, Chi Kyung Kim, Jin-Man Jung, Hee-Joon Bae, Dong-Eog Kim, Sung-Il Sohn, Man Seok Park, So Young Yun, Jung Seok Lee, Ji-Hoon Kang, Bogun Jang, Eunsun Park, Ho Kyu Lee, Mihee Kong, Hyeon Ju Kim, Hyeon Ju Kim, Hiroyuki Ishiyama, Satoshi Saito, Masafumi Ihara, Jay Chol Choi
Institutions: Jeju National University Hospital, Jeju National University, National Cerebral and Cardiovascular Center, Korea University Guro Hospital, Korea University Ansan Hospital, Seoul National University, Seoul National University Bundang Hospital, Dongguk University Ilsan Hospital, Keimyung University Dongsan Medical Center, Keimyung University Dongsan Hospital, Keimyung University, Chonnam National University, Chonnam National University Hospital
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W4415716465