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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

(CADASIL)

Definition

CADASIL is a genetic problem of the blood vessels. It happens when the thickening of blood vessel walls blocks the flow of blood to the brain. This can lead to migraines, strokes, and dementia.

Brain

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Causes

CADASIL is caused by a mutation on the NOTCH3 gene.

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.

Problems may be:

  • Migraine headaches
  • Stroke-like episodes
  • Mental health issues, such as depression or anxiety
  • Seizures
  • Memory problems
  • Confusion

Diagnosis

The doctor will ask about your symptoms and health history. You will be asked whether your parents or another family member has or had CADASIL or early onset strokes, dementia, seizures, or migraines. A physical exam will be done.

Images may be taken of the brain. This can be done with an MRI scan.

These tests will be done to look for signs of the NOTCH3 gene:

Treatment

There is no cure. The goal of treatment is to manage symptoms. Medicine may be given to ease:

  • Migraines
  • Depression or anxiety
  • Cognitive difficulties

Other medications may be given to reduce the risk of stroke or heart attack.

Prevention

There are no known guidelines to prevent this health problem.

RESOURCES:

CADASIL Foundation
http://cadasilfoundation.org

Genetics Home Reference
http://ghr.nlm.nih.gov

CANADIAN RESOURCES:

Health Canada
https://www.canada.ca

Heart and Stroke Foundation of Canada
http://www.heartandstroke.com

REFERENCES:

Bersano A, Bedini G, Oskam J, et al. CADASIL: treatment and management options. Curr Treatment Options Neurol. 2017;19(9):31.

Brass SD, Smith EE, et al. Case records of the Massachusetts General Hospital. Case 12-2009. A 46-year-old man with migraine, aphasia, and hemiparesis and similarly affected family members. N Engl J Med. 2009 Apr 16;360(16):1656-1665.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-cadasil. Accessed January 25, 2021.

Migraine in adults EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/migraine-in-adults. Accessed January 25, 2021.

Stroke rehabilitation. EBSCO DynaMed website. Available at: https://www.dynamed.com/management/stroke-rehabilitation-in-adults. Accessed January 25, 2021.

What is CADASIL? CADASIL Foundation website. Available at: http://cadasilfoundation.org/what.html. Accessed January 25, 2021.

Last reviewed December 2020 by EBSCO Medical Review Board Rimas Lukas, MD  Last Updated: 1/25/2021