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A 45-year-old woman has recurrent strokes and a history of migraines with aura. Brain MRI shows extensive white matter lesions. Her father and grandmother both had early-onset strokes.
AD; NOTCH3 gene (cysteine-altering missense variants)
- Recurrent strokes (subcortical, lacunar)
- Migraine with aura
- Progressive cognitive decline → vascular dementia
- Psychiatric disturbances
- MRI: white matter hyperintensities (anterior temporal lobe characteristic)
- NOTCH3 sequencing; skin biopsy showing GOM (granular osmiophilic material)
- No disease-modifying therapy; supportive care with vascular risk-factor control (blood pressure, lipids, diabetes, smoking cessation)
- Antiplatelet therapy is commonly used, but anticoagulation is generally avoided given microbleed/hemorrhage risk
- Manage migraine, mood symptoms, and cognitive decline; avoid intra-arterial procedures and triptans where vasoconstriction is a concern
- Genetic counseling and predictive testing for at-risk relatives (autosomal dominant)
"CADASIL" is the acronym: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. The full name describes the entire disease: AD inheritance, affects cerebral arteries, causes subcortical strokes, and white matter disease on MRI.