What is the pathophysiology of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)?

Updated: Oct 09, 2018
  • Author: Reza Behrouz, DO, FACP; Chief Editor: Helmi L Lutsep, MD  more...
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Answer

CADASIL is caused by a mutation in the NOTCH3 gene on chromosome 19q12. The gene mutation was first identified in 1996. [3] NOTCH3 codes for a transmembrane receptor protein whose function is not precisely known. The NOTCH3 receptor is located on the surface of smooth muscle cells surrounding arteries. Mutations are typically located within epidermal growth factor–like repeat domains in the extracellular part of the NOTCH3 receptor. [4] Accumulation of the pathologic NOTCH3 receptor protein in small and medium-sized cerebral arteries is responsible for the pathogenesis and phenotypic presentation of CADASIL. [5] Cerebral infarctions result from thickening and fibrosis of the walls of small and medium-sized arteries.


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