ISC 2024 | Introduction to CADASIL: scientific advances and clinical perspectives

Cerebral autosomal dominant arteriopathy with subcortical infarct (CADASIL) is a rare, monogenic, cerebral small vessel disease caused by variants in the NOTCH3 gene. CADASIL is a genotypically and phenotypically diverse condition, with its heterogeneous presentation often leading to misdiagnosis. Common presenting manifestations include migraine, mood disorders, recurrent strokes, and cognitive decline. Characteristic white matter changes on MRI indicate the need for NOTCH3 testing. Elisa Ferrante, PhD, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, discusses ongoing efforts to establish the mechanisms underlying CADASIL and to identify potential treatments for future study. While the genetic cause of CADASIL is known, the molecular mechanisms at play remain unclear, as the disease-causing variants span the entire length of the NOTCH3 gene. Granular osmiophilic material deposits (GOMs) are a pathological hallmark of CADASIL, but their role has not been fully elucidated. Dr Ferrante comments on the need for natural history studies to learn more about CADASIL and to identify potential biomarkers and therapeutic targets. This interview took place during the International Stroke Conference 2024 in Phoenix, AZ.

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