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Basic Science and Pathogenesis.

Alzheimers Dement

December 2024

Centre for Healthy Brain Ageing (CHeBA), University of New South Wales, Sydney, NSW, Australia.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare, hereditary cerebrovascular disease which causes stroke, complex migraine, and cognitive impairment. Given its monogenic nature, CADASIL is considered a 'pure' model of small vessel disease and vascular dementia. CADASIL is caused by NOTCH3 pathogenic variants with a broad resulting phenotypic spectrum.

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