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Diseases

Genetic and Rare Diseases Information Center (GARD)

CADASIL


Other Names for this Disease
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Dementia, hereditary multi-infarct type
  • Familial vascular leukoencephalopathy
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • CASIL
Related Diseases
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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]
Last updated: 9/29/2015

References

  1. NINDS CADASIL Information Page. National Institute of Neurological Disorders and Stroke (NINDS). December 18, 2013; http://www.ninds.nih.gov/disorders/cadasil/CADASIL.htm. Accessed 9/29/2015.
  2. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Genetics Home Reference (GHR). May 2013; http://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • 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.
Other Names for this Disease
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Dementia, hereditary multi-infarct type
  • Familial vascular leukoencephalopathy
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  • CASIL
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.