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CADASIL

Disease definition

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

ORPHA:136

  • Synonym(s):
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Hereditary multi-infarct dementia
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: F01.1
  • OMIM: 125310
  • UMLS: C0751587
  • MeSH: D046589
  • GARD: 1049
  • MedDRA: 10065551

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