De novo mutation in the NOTCH3 gene causing CADASIL

  • Dragan Stojanov Institute of Radiology, Faculty of Medicine, University of Niš
  • Danijela Grozdanović Health Center Jagodina
  • Sladjana Petrović Institute of Radiology, Faculty of Medicine, University of Niš
  • Daniela Benedeto-Stojanov Institute of Radiology, Faculty of Medicine, University of Niš
  • Ivan Stefanović Institute of Radiology, Faculty of Medicine, University of Niš
  • Nebojša Stojanović Institute of Radiology, Faculty of Medicine, University of Niš
  • Dušica N. Ilić Department of Mathematics and Informatics, Faculty of Sciences, University of Niš
Keywords: CADASIL, NOTCH3 gene, de novo mutation, CT

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.

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De novo mutation in the NOTCH3 gene causing CADASIL
Published
2014-05-20
How to Cite
1.
Stojanov D, Grozdanović D, Petrović S, Benedeto-Stojanov D, Stefanović I, Stojanović N, N. Ilić D. De novo mutation in the NOTCH3 gene causing CADASIL. Bosn J of Basic Med Sci [Internet]. 2014May20 [cited 2020Aug.4];14(1):48-0. Available from: https://bjbms.org/ojs/index.php/bjbms/article/view/2297
Section
Case reports