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Genetic and Rare Diseases Information Center (GARD)

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CADASIL

Other Names for this Disease
  • CASIL
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Dementia, hereditary multi-infarct type
  • Familial vascular leukoencephalopathy
More Names
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Overview


CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. CADASIL is characterized by migraine headaches and multiple strokes, which progresses to dementia. Other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life.[1] CADASIL is caused by a change (or mutation) in a gene called NOTCH3 and is inherited in an autosomal dominant manner.[1][2]


References

  1. NINDS CADASIL Information Page. National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/cadasil/CADASIL.htm. Accessed March 22, 2011.
  2. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=cerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathy. Accessed June 14, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on CADASIL. Click on the link to go to GHR and review the information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss CADASIL. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss CADASIL. Click on the link to go to OMIM and review these resources.