title: De novo mutation in the NOTCH3 gene causing CADASIL.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders and dementia. CADASIL is caused by mutations of the NOTCH3 gene. This mutation is inherited as an autosomal dominant trait. Most individuals with CADASIL have a parent with the disorder. In extremely rare cases, CADASIL may occur due to a spontaneous genetic mutation that occurs for unknown reasons (de novo mutation). We report a new case of patient with de novo mutation of the NOTCH3 gene and a condition strongly suggestive of CADASIL (migraine, stroke, and white matter abnormalities), except that this patient did not have any first-degree relatives with similar symptoms.
authors.affiliation: Institute of Radiology, Faculty of Medicine, University of Niš, Bul. Dr. Zorana Djindjića 48, 18000 Niš, Serbia.
authors.forename: Dragan
authors.initials: D
authors.lastname: Stojanov
authors.affiliation: Health Center Jagodina, Karađorđeva 4, 35000 Jagodina, Serbia.
authors.forename: Danijela
authors.initials: D
authors.lastname: Grozdanović
authors.affiliation: Institute of Radiology, Faculty of Medicine, University of Niš, Bul. Dr. Zorana Djindjića 48, 18000 Niš, Serbia.
authors.forename: Sladjana
authors.initials: S
authors.lastname: Petrović
authors.affiliation: Institute of Radiology, Faculty of Medicine, University of Niš, Bul. Dr. Zorana Djindjića 48, 18000 Niš, Serbia.
authors.forename: Daniela
authors.initials: D
authors.lastname: Benedeto-Stojanov
authors.affiliation: Institute of Radiology, Faculty of Medicine, University of Niš, Bul. Dr. Zorana Djindjića 48, 18000 Niš, Serbia.
authors.forename: Ivan
authors.initials: I
authors.lastname: Stefanović
authors.affiliation: Institute of Radiology, Faculty of Medicine, University of Niš, Bul. Dr. Zorana Djindjića 48, 18000 Niš, Serbia.
authors.forename: Nebojša
authors.initials: N
authors.lastname: Stojanović
authors.affiliation: Department of Mathematics and Informatics, Faculty of Sciences, University of Niš, Višegradska 33, 18000 Niš, Serbia.
authors.forename: Dušica N
authors.initials: DN
authors.lastname: Ilić
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D046589:CADASIL / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch