EAN 2023 | The effect of cardiovascular risk factors and NOTCH3 variant position on the CADASIL phenotype

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by a cysteine-altering variant in 1 of the 34 epidermal growth factor-like repeat (EGFR) domains of the NOTCH3 protein. Nicola Rifino, MD, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy, discusses a study evaluating the effect of cardiovascular risk factors and NOTCH3 variant position on the CADASIL phenotype. Over 150 patients were enrolled based, and the study focused on the mutation site as well as cardiovascular risk factors and their impact on the clinical presentation of the disease. The findings confirmed that patients with mutations in the first six domains of the EGFR gene experienced a more severe form of the disease. Additionally, symptomatic patients had a higher prevalence of cardiovascular risk factors such as hypertension and diabetes compared to asymptomatic patients. These results emphasize the need for more aggressive treatment of cardiovascular risk factors in patients with genetic mutations. This interview took place at the European Academy of Neurology (EAN) 2023 Congress in Budapest, Hungary.

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