ArticleNeurology. Genetics2025
Serum NOTCH3 Extracellular Domain in Patients With CADASIL.
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
22 authors.
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Abstract
Background and Objectives: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small vessel disease caused by variants in the 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: Serum N3ECD levels did not differ significantly among patients with CADASIL, healthy controls, and patients with ischemic stroke in the Korean cohort ( 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.
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