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CADASIL – Management — SCE Neurology MCQ

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HardNeurogeneticsCADASIL – ManagementSCE Neurology

A 35-year-old man presents with recurrent episodes of unilateral weakness, numbness, and aphasia lasting 60–90 minutes, resolving completely each time. His father has a similar condition and recurrent strokes. MRI brain shows extensive white matter hyperintensities and multiple lacunar infarcts. Genetic testing confirms a NOTCH3 mutation. He asks about treatment options. Is there a disease-modifying treatment for CADASIL?

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Correct answer: B — There is no proven disease-modifying therapy; management focuses on vascular risk factor control and symptomatic treatment

The best answer is “There is no proven disease-modifying therapy; management focuses on vascular risk factor control and symptomatic treatment”. UK stroke guidance supports urgent vascular imaging and reperfusion selection, short-course dual antiplatelet therapy for eligible minor stroke or high-risk TIA, decompression for life-threatening swelling, and secondary prevention matched to mechanism. The alternatives “Enzyme replacement therapy, within the relevant UK pathway, after excluding important mimics, after specialist assessment”, “Gene therapy is available, after excluding important mimics, after specialist assessment, when the phenotype supports it”, “Plasma exchange, after specialist assessment, when the phenotype supports it, within the relevant UK pathway”, “Bone marrow transplant, when the phenotype supports it, within the relevant UK pathway, after excluding important mimics” are clinically adjacent possibilities, but they do not match the defining chronology, localisation, physiology, investigation result or UK management sequence in this stem.

Reference: National Clinical Guideline for Stroke: acute care: https://www.strokeguideline.org/chapter/acute-care/