Abstract
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with mutations in the NOTCH 3 protein, which maps to chromosome 19q12. NOTCH signaling is important in development, but in adults, NOTCH 3 expression is limited to vascular smooth muscle cells, where its function is unknown. Pathologically, there are granular deposits in small cerebral arteries producing ischemic stroke because of vessel wall thickening, fibrosis, and occlusion. These deposits are found in small arteries throughout the body, and diagnosis may be confirmed by the presence of the osmiophilic granules in the basement membrane of vascular smooth muscle cells on skin biopsies.
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Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
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© 2006 Humana Press Inc., Totowa, NJ
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(2006). Cerebrovascular Diseases. In: Lerner, A.J. (eds) Diagnostic Criteria in Neurology. Current Clinical Neurology. Humana Press. https://doi.org/10.1007/978-1-59745-078-2_2
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