Work

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)

Year: 2025

Type: article

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.

Source: European Journal of Case Reports in Internal Medicine

DOI: 10.12890/2025_005297

Authors: Inas Ragab, Meave Higgins, Antonio F. Caballero-Bermejo, Karl Boyle, Kai Covin, Leena Abdelmoti

Institutions: Beaumont Hospital, Mater Misericordiae University Hospital, Edward Via College of Osteopathic Medicine, National Rehabilitation Hospital

Language: English

Topic: Cerebrovascular and genetic disorders

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $323