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

Daniela Neto; Marta Cunha; Filipe Gonçalves; Jorge Cotter

doi:10.7759/cureus.26495

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

Cureus. 2022 Jul 1;14(7):e26495. doi: 10.7759/cureus.26495. eCollection 2022 Jul.

Authors

Daniela Neto¹, Marta Cunha², Filipe Gonçalves², Jorge Cotter²

Affiliations

¹ Internal Medicine, Hospital da Senhora Da Oliveira, Guimarães, PRT.
² Internal Medicine, Hospital da Senhora da Oliveira, Guimarães, PRT.

Abstract

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.

Keywords: genetic; notch3; paresthesias; stroke; subcortical ischemic leukoencephalopathy (cadasil).

Publication types

Case Reports