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

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