CADASIL Unmasked

Weekly Neurology Deep Dive - A review of recent impactful publications in the field of Neurology · Oct 5, 2025 · 36m

This episode combines three papers to provide a comprehensive overview of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), emphasizing its status as the most common monogenic cerebral small vessel disorder caused by NOTCH3 gene mutations. These mutations, particularly those altering cysteine residues in the NOTCH3 receptor, lead to the accumulation of granular osmiophilic material (GOM) in blood vessel walls, although the precise disease mechanism remains unclear, with major hypotheses focusing on aberrant NOTCH3 aggregation and signaling…