Podcast # 452: CADASIL

Author: Sam Killian, MD Educational Pearls: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) occurs in 1:100000 individuals The disease is caused by a defect in the NOTCH3 gene on chromosome 19 It is an important cause of stroke in young patients Features include ischemia, cognitive deficits, migraines, psychiatric disease, coma, and seizure, all of which is worse with pregnancy Migraine with aura is often the first presenting symptom with onset by age 30 Strokes typically can occur by age 50 Diagnosis is with MRI for characteristic lesions Unfortunately there is no cure, and treatment is focused on stroke prevention with aspirin and statins References: Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol. 2009 Jul;8(7):643-53. doi: 10.1016/S1474-4422(09)70127-9. Review. PubMed PMID: 19539236. Summarized by Will Dewispelaere, MS3 | Edited by Erik Verzemnieks, MD