title: Notch signaling and CADASIL.
abstract: Notch signaling plays an essential role in vascular development and human vascular diseases. In adults, mutations of the Notch3 gene cause a hereditary vascular degenerative disease known as cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL). CADASIL is characterized by recurrent strokes and cognitive impairment. Over the past decade, the number of CADASIL patients increased significantly with improvements in genetic testing and other diagnostic tools, but the true prevalence of CADASIL is still underestimated, especially in Asia. Basic studies suggest that Notch3 is essential for the development and survival of the vascular smooth muscle cells, but the mechanisms by which Notch3 mutations become pathogenic are still unclear. This article reviews the clinical features and possible pathogenesis of CADASIL. Efforts to improve the diagnostic accuracy and define the role of Notch3 mutation in brain damage and clinical presentations of CADASIL should be continued.
authors: Stroke Center, National Taiwan University Hospital, Taiwan.
authors: Sung-Chun
authors: SC
authors: Tang
authors: Jiann-Shing
authors: JS
authors: Jeng
authors: Ming-Jen
authors: MJ
authors: Lee
authors: Ping-Keung
authors: PK
authors: Yip
mesh_terms: D000818:Animals; D046589:CADASIL / Q000150:complications / Q000175:diagnosis / Q000209:etiology*; D003072:Cognition Disorders / Q000209:etiology; D004195:Disease Models, Animal; D006801:Humans; D008279:Magnetic Resonance Imaging; D008881:Migraine Disorders / Q000209:etiology; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000502:physiology*; D015398:Signal Transduction / Q000502:physiology*; D020521:Stroke / Q000209:etiology
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch