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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

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DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision

Definition

CADASIL is a genetic disorder that affects the brain. A gene mutation affects the muscle cells surrounding small blood vessels in the brain. The damaged muscles cause damage to these blood vessels. It can impair blood flow. This can lead to migraines, strokes, and dementia.

Causes

CADASIL is caused by a mutation on the NOTCH3 gene. This gene is found on chromosome 19.

Risk Factors

The main risk factor is having a parent with this disorder.

Symptoms

For some people with CADASIL, symptoms develop around age 30. Others do not have symptoms until much later in life.

These symptoms may include:

  • Migraine headaches
  • Strokes (may have multiple strokes)
  • Mental health issues, such as depression or anxiety
  • Seizures
  • Memory problems (dementia)

Diagnosis

Your doctor will:

  • Take your medical history, especially focusing on whether or not your parents or other family members have CADASIL
  • Ask about your symptoms
  • Do a physical exam

To diagnose CADASIL, your doctor may do tests, including:

  • MRI of your brain—For detailed pictures of your brain
  • A skin biopsy to look for changes in your small blood vessels
  • Genetic tests to look for the NOTCH3 gene mutation

Treatment

Researchers are studying ways to treat CADASIL. If you are diagnosed with this disorder, your doctor will work closely with you to create a treatment plan.

Treatment is focused on relieving your symptoms. This may include medication to treat:

  • Migraines—May be over-the-counter pain relievers or prescription drugs
  • Depression or anxiety
  • Cognitive difficulties

Other medications may be given to reduce your risk of a stroke or heart attack. These may include daily aspirin or medication to lower blood pressure.

When prescribing medicine, your doctor will be very careful. Certain drugs can worsen your condition by further reducing blood flow in your brain.

Being diagnosed with CADASIL is a life-changing event. It is normal to have a range of emotions as a result. To help manage this change:

  • Get support from family members and friends. Talk to them about your diagnosis.
  • Consider a support group for people with genetic disorders.
  • Become educated. Learn about CADASIL and ways that you can stay healthy.

Prevention

There is no known way to prevent this disorder. But, if you have a family history of CADASIL, you can talk with a genetic counselor when deciding to have children.

Revision Information

  • Reviewer:
  • Review Date: 03/2013 -
  • Update Date: 00/31/2013 -

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

Copyright © EBSCO Publishing
All rights reserved.

RESOURCES

  • CADASIL Foundation

    http://cadasilfoundation.org

  • Genetics Home Reference

    http://ghr.nlm.nih.gov

CANADIAN RESOURCES

  • Health Canada

    http://www.hc-sc.gc.ca

  • Heart and Stroke Foundation of Canada

    http://www.heartandstroke.com

References

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy . Updated July 9, 2012. Accessed July 17, 2012.

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed . Updated January 5, 2012. Accessed July 17, 2012.

  • Cognitive (thinking skills). CADASIL, St. George’s University of London website. Available at: http://www.cadasil.sgul.ac.uk/cognition-thinking-skills . Accessed July 17, 2012.

  • Migraine in adults EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed . Updated June 13, 2012. Accessed July 17, 2012.

  • NOTCH3 gene. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/gene/NOTCH3 . Updated July 9, 2012. Accessed July 17, 2012.

  • Psychological difficulties. CADASIL, St. George’s University of London website. Available at: http://www.cadasil.sgul.ac.uk/psychological-difficulties . Accessed July 17, 2012.

  • Schub T. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). EBSCO Nursing Reference Center website. Available at: http://www.ebscohost.com/pointOfCare/nrc-about . September 23, 2011. Accessed July 17, 2012.

  • Stroke rehabilitation. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed . Updated June 11, 2012. Accessed July 17, 2012.

  • What is CADASIL? CADASIL Foundation website. Available at: http://cadasilfoundation.org . Accessed July 17, 2012.

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