DOI: 10.12890/2025_005297

A novel mutation of the NOTCH3 gene in a young patient presenting with an acute stroke: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Authors

  • Inas Ragab Beaumont Hospital, Dublin, Ireland
  • Meave Higgins Beaumont Hospital, Dublin, Ireland
  • Antonio F. Caballero-Bermejo Mater Misericordiae University Hospital, Eccles St, Phibsborough, Dublin, Ireland
  • Karl Boyle Beaumont Hospital, Dublin, Ireland
  • Kai Covin Edward Via College of Osteopathic Medicine-Louisiana Campus, Monroe, USA
  • Leena Abdelmoti National Rehab Hospital, Dublin, Ireland

nusaragab@gmail.com

Keywords

Dysarthria, CADSIL, small vessel disease, stroke

Abstract

This report provides a detailed analysis of a singular case involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a male patient who suffered a stroke. Our investigation delves into the clinical manifestations, genetic foundations, diagnostic complexities, and prognosis associated with CADASIL. As a notable contributor to stroke occurrence in young patients, CADASIL’s impact on morbidity and mortality is influenced by stroke-related complications and cognitive decline. Notably, our report highlights a novel genetic variant (C.3025T>C; p.Cys1009Arg) in the NOTCH3 gene linked to CADASIL, shedding light on its underlying pathogenesis. Furthermore, our patient exhibited unexpected white matter changes, challenging conventional age-related norms. These findings underscore the essential role of genetic testing and emphasize the potential diversity in CADASIL’s clinical presentation. Further exploration is imperative to enhance our understanding of CADASIL and refine diagnostic strategies, thereby facilitating improved patient prognosis and management.

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References

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  3. Wang W, Ren Z, Shi Y, Zhang J. A Novel Mutation Outside of the EGFr Encoding Exons of NOTCH3 Gene in a Chinese with CADASIL. J Stroke Cerebrovasc Dis 2020;29:105410. doi: 10.1016/j.jstrokecerebrovasdis.2020.105410
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Published

2025-08-12

Issue

Vol. 12 No. 9 (2025)

Categories

How to Cite

1.
Ragab I, Higgins M, Caballero-Bermejo AF, Boyle K, Covin K, Abdelmoti L. A novel mutation of the NOTCH3 gene in a young patient presenting with an acute stroke: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). EJCRIM [Internet]. 2025 Aug. 12 [cited 2026 Nov. 3];12(9). Available from: https://ejcrim.com/index.php/ejcrim/article/view/5297