Maria Albanese, Francesca Pescini, Chiara Di Bonaventura, Luigi Francesco Iannone, Silvia Bianchi, Anna Poggesi, Mario Bengala, Nicola Biagio Mercuri, Francesco De Cesaris
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of cerebral small vessel disease, caused by a mutation in the NOTCH3 gene on chromosome 19. The main clinical features include migraine (often with aura), early onset, recurrent subcortical ischemic strokes, mood disturbances, and cognitive impairment, frequently leading to dementia and disability with a reduction in life expectancy. Cerebral chronic global hypoperfusion, due to impaired cerebrovascular reactivity, seems to play a primary role in CADASIL...
March 24, 2024: Journal of Clinical Medicine