CADASIL

Introduction
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By Daniel J Bonthius MD PhD and Nancy E Bonthius PharmD

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is also known as or subsumes Hereditary multi-infarct dementia, Familial sclerosing vasculopathy, and Familial Binswanger disease. -ed.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant genetic disease that induces recurrent subcortical ischemic strokes and ultimately leads to severe disability and death. Much progress has been made toward understanding the etiology and pathogenesis of CADASIL. In this update, Dr. Daniel Bonthius and Dr. Nancy Bonthius, both from the University of Iowa, summarize recent reports of childhood onset of this disease, which was previously considered strictly an adult-onset disorder. The authors describe a recently developed animal model that recapitulates many of the pathologic hallmarks of CADASIL, and they discuss the differential diagnosis and diagnostic approach to this devastating disease.

Key points

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically determined disorder that leads to early transient ischemic attacks and strokes.
  • Initial symptoms of CADASIL may include migraine headaches or psychiatric disturbance.
  • MRI scan of the brain is always abnormal in symptomatic patients and shows signs of small deep infarcts and leukoencephalopathy.
  • CADASIL is an autosomal dominant disorder caused by mutation in Notch3 on chromosome 19, and genetic testing is commercially available for this disorder.
  • Although the disease manifests itself solely as brain dysfunction, the vasculopathy of CADASIL is systemic, thus, providing the opportunity for diagnostic biopsies from skin, muscle, or peripheral nerve.