ArticleBosnian journal of basic medical sciences2014
De novo mutation in the NOTCH3 gene causing CADASIL.
Article in Bosnian journal of basic medical sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 18 citations in OpenAlex.
- NOTCH3 signaling is essential for NF-κB activation in TLR-activated macrophages.Scientific reports · 2020Article
- Genetic architecture of common non-Alzheimer's disease dementias.Neurobiology of disease · 2020Review
- CADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series.Frontiers in neurology · 2020Article
- Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.International journal of molecular sciences · 2019Review
- Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.Metabolic brain disease · 2015Review
- Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Bosnian journal of basic medical sciences · 2015Review
- Neoplastic lesions in CADASIL syndrome: report of an autopsied Japanese case.International journal of clinical and experimental pathology · 2015Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
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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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