Eighteen-Year Disease Progression and Survival in CADASIL
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초록
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most prevalent hereditary cerebral small vessel disease, is typically associated with mid-adult onset of strokes and vascular cognitive decline leading to dementia and complete care-dependency. A severe disease course is associated with cysteine-altering variants in epidermal growth-factor repeat (EGFr) domains 1–6 of the NOTCH3 protein, whereas variants located in EGFr domains 7–34 are associated with a milder phenotype.1 However, even individuals with identical mutations can have variable disease courses. Hypertension has been shown to contribute,2 but there are likely other important modifiers.
Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most prevalent hereditary cerebral small vessel disease, is typically associated with mid-adult onset of strokes and vascular cognitive decline leading to dementia and complete care-dependency. A severe disease course is associated with cysteine-altering variants in epidermal growth-factor repeat (EGFr) domains 1–6 of the NOTCH3 protein, whereas variants located in EGFr domains 7–34 are associated with a milder phenotype.1 However, even individuals with identical mutations can have variable disease courses. Hypertension has been shown to contribute,2 but there are likely other important modifiers.
참고문헌 (4)
- Rutten JW, "The effect of NOTCH3 pathogenic variant position on CADASIL disease severity : NOTCH3 EGFr 1-6pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant", Genet Med, 21, pp.676~682 (2019)
- Adib-Samii P, "Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype : study in 200 consecutively recruited individuals", Stroke, 41, pp.630~634 (2010)
- van den Boom R, "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages. 3rd-6th decades", Radiology, 229, pp.683~690 (2003)
- Jouvent E, "Prediction of 3-year clinical course in CADASIL", Neurology, 87, pp.1787~1795 (2016)