What is CADASIL, and how is it distinguished from multiple sclerosis (MS)?

Updated: Oct 08, 2019
  • Author: Christopher Luzzio, MD; Chief Editor: Jasvinder Chawla, MD, MBA  more...
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Answer

CADASIL is an autosomal dominant disease affecting small and middle-sized brain blood vessels and characterized by recurrent headaches and strokes or transient ischemic attacks. Mutations in the Notch 3 gene can be demonstrated with current laboratory techniques. In young people with CADASIL who have multiple white matter lesions, CADASIL may be misdiagnosed as MS. Classical CADASIL hyperintense lesion localizations by MRI include frontal and temporal lobes, and deep gray matter (basal ganglia and thalamus). A family history of headaches and strokes should prompt a diagnostic workup for CADASIL.


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