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 muscles cause damage to these blood vessels. It can reduce 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
• Confusion

Diagnosis

You will be asked about your symptoms and medical history. It will focus on whether or not 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 your brain. This can be done with an MRI scan.

Your bodily fluids may be tested. This can be done with:

• A skin biopsy
• Genetic tests

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
• 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 medication, your doctor will be careful. Certain drugs can worsen your condition by 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.

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

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

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 November 12, 2014.

Cognitive (thinking skills). CADASIL, St. George’s University of London website. Available at:
http://www.cadasil.sgul.ac.uk/cognition-thinking-skills
Accessed November 12, 2014.

Fan Y, McGowan S, et al. Acute encephalopathy as the initial manifestation of CADASIL. Neurol Clin Pract. 2012;2(4):359-361.

Migraine in adults EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed
Updated July 25, 2014. Accessed November 12, 2014.

NOTCH3 gene. Genetics Home Reference website. Available at:
http://ghr.nlm.nih.gov/gene/NOTCH3
Published November 4, 2014. Accessed November 12, 2014.

Psychological difficulties. CADASIL, St. George’s University of London website. Available at:
http://www.cadasil.sgul.ac.uk/psychological-difficulties
Accessed November 12, 2014.

Stroke rehabilitation. EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed
Updated October 17, 2014. Accessed November 12, 2014.

What is CADASIL? CADASIL Foundation website. Available at:
http://cadasilfoundation.org
Accessed November 12, 2014.