WCN 2021 | Inherited small vessel diseases: CADASIL, CARASIL, and CARASAL

Antonio Federico, MD, PhD, University of Siena, Siena, Italy, gives an update on clinical and pathogenic aspects of inherited small vessel diseases, CADASIL, CARASIL, and CARASAL. Genetic vascular disorders are rare and usually autosomal dominant conditions. Symptoms are characterized by combinations of migraine, particularly migraine with aura, ischemic events, and vascular cognitive impairment. CADASIL, due to mutations of the NOTCH3 gene, is the most frequent form of genetic ischemic cerebral subcortical small vessel disease. While CARASIL, with an autosomal recessive HTRA1 mutation, is less frequent. This interview took place during the XXV World Congress of Neurology.