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A New NOTCH3 Gene Mutation Associated With a CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy) Diagnosis

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common and best-known monogenic small vessel disease. This disease is caused by a genetic mutation in the neurogenic locus notch homolog protein 3 (NOTCH3) gene, inherited as an autosomal...

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Detalles Bibliográficos
Autores principales: Neto, Daniela, Cunha, Marta, Gonçalves, Filipe, Cotter, Jorge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9249067/
https://www.ncbi.nlm.nih.gov/pubmed/35782589
http://dx.doi.org/10.7759/cureus.26495
Descripción
Sumario:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common and best-known monogenic small vessel disease. This disease is caused by a genetic mutation in the neurogenic locus notch homolog protein 3 (NOTCH3) gene, inherited as an autosomal dominant trait, the presence of which confirms the diagnosis of CADASIL. Clinically, it can express itself in a variety of symptoms, including migraine with aura, mood disturbance, vascular dementia, ischemic stroke, and premature death. This case reports a 69-year-old man who was admitted for an etiological study of paresthesias and was later confirmed with a diagnosis of CADASIL with a NOTCH3 mutation.