- Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Dementia, hereditary multi-infarct type
- Familial vascular leukoencephalopathy
Your QuestionMy mother and her identical twin sister have CADASIL. While some of my cousins have the condition, I do not. Am I at risk to inherit this condition?
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NOTCH3 gene mutations lead to the production of an abnormal Notch3 receptor protein that affects the function and survival of vascular smooth muscle cells. Disruption of Notch3 functioning can lead to the self-destruction (apoptosis) of these cells.
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Genetics Home Reference (GHR). May 2013; http://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy. Accessed 9/29/2015.
- Rutten J, Lesnik Oberstein SAJ. CADASIL. GeneReviews. 2015; http://www.ncbi.nlm.nih.gov/books/NBK1500/. Accessed 3/3/2015.