CADASIL

Introduction
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By Daniel J Bonthius MD PhD

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. In this article, the author describes the diagnostic approach and recent discoveries regarding the pathogenesis of this fascinating disorder.

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.

In This Article

Introduction
Historical note and nomenclature
Clinical manifestations
Clinical vignette
Etiology
Pathogenesis and pathophysiology
Epidemiology
Prevention
Differential diagnosis
Diagnostic workup
Prognosis and complications
Management
Pregnancy
References cited
Contributors