Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies
N Peters, C Opherk, T Bergmann, M Castro… - Archives of …, 2005 - jamanetwork.com
Background Mutations in theNOTCH3gene are the cause of cerebral autosomal dominant
arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is an
important cause of stroke in young adults. Mutations are typically located within epidermal
growth factor–like repeat domains in the extracellular part of the Notch3 receptor.
Identification of the mutation is critical for genetic counseling and testing of relatives at risk.
Objectives To identify the spectrum ofNOTCH3mutations in CADASIL and to discuss the …
arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is an
important cause of stroke in young adults. Mutations are typically located within epidermal
growth factor–like repeat domains in the extracellular part of the Notch3 receptor.
Identification of the mutation is critical for genetic counseling and testing of relatives at risk.
Objectives To identify the spectrum ofNOTCH3mutations in CADASIL and to discuss the …