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April 7, 2026Journal of the Chinese Medical Association

An in trans NOTCH3 loss-of-function variant modifies disease severity in CADASIL: A family-based study

Shih-Chun Lan Yi-Hong Liu Jui Lan Y. H. Liao Min-Yu Lan Yi-Chung Lee

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Key Points

To investigate how a NOTCH3 loss-of-function variant affects the severity of CADASIL.
Conducted a family-based study
Analyzed NOTCH3 gene variants
Evaluated disease severity among family members
Identified a NOTCH3 loss-of-function variant
Observed modified disease severity in affected family members
Demonstrated genetic influence on CADASIL outcomes

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Implication

Family-based study shows NOTCH3 variant influences disease severity in CADASIL, indicating genetic factors play a role.

Abstract

Reduced NOTCH3 dosage may modify the disease severity of CADASIL.

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Cite This Study

Lan et al. (2026) studied this question.

synapsesocial.com/papers/69d895a86c1944d70ce06b92 https://doi.org/10.1097/jcma.0000000000001371

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Association of <i>NOTCH3</i> Variant Risk Category With 2-Year Clinical and Radiologic Small Vessel Disease Progression in Patients With CADASIL2024 · 14 citations
2Novel Mutation of <i>NOTCH3</i> Gene in a Chinese Patient with CADASILRandomized Controlled Trial · 2025
3NOTCH3 Mutations in CADASIL: a multicellular perspective on neurodegenerationRandomized Controlled Trial · 2026 · 2 citations
4NOTCH3 R545C mutation drives vascular-neuronal dysfunction and cognitive impairment in CADASIL pathogenesisRandomized Controlled Trial · 2026
5Novel mutation of NOTCH3 gene in a Chinese Patient with CADASIL: A case report2024

Reduced SUMOylation impairs NOTCH3 signaling and cell survival in the pathogenesis of CADASIL2025
Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL2024
<scp>NOTCH3 CADASIL</scp> Variant Receptor Aggregation Requires <scp>NOTCH3</scp> Wild‐Type Receptors: Identification of Highly Selective Inhibitors That Block the Process2026
Bridging the GAP: Prognostic stratification by longitudinal FVC changes in IPFJournal of the Chinese Medical Association · 2026
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