What is CADASIL?
CADASIL is a rare inherited disorder that happens when the thickening of blood vessel walls blocks the flow of blood to the brain. CADASIL is short for “cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.”
Symptoms and onset of the disorder can be different among people, but signs typically appear between the ages of 20 and 40 years. Some individuals may not show signs until later in life. While rare, symptoms can begin in childhood as well.
Common symptoms of CADASIL include:
- Migraine headaches with aura
- Multiple strokes progressing to dementia
- Confusion or coma (caused by acute encephalopathy, which can accompany CADASIL)
- Progressive decline in memory and thinking skills
- Mental health issues, including apathy, depression, and bipolar disorder
Less common symptoms of CADASIL include:
- Seizures
- Vision problems
- Slow movements and tremors (parkinsonism)
- Numbness or weakness
- Rapid onset of vertigo, nausea/vomiting, and abnormal gait
Symptoms usually progress slowly. By age 65, most individuals with CADASIL will have cognitive impairment or dementia.
Who is more likely to get CADASIL?
Anyone can get CADASIL. The disorder is found worldwide, affects both men and women, and happens in people of all races and ethnicities.
CADASIL is caused by a mutation in the Notch3 gene. This mutation affects the small blood vessels in the white matter of the brain. Often there is a family history of the disorder, but it can also be caused by a spontaneous genetic mutation that happens for unknown reasons.
How is CADASIL diagnosed and treated?
Diagnosing CADASIL
A doctor will diagnose CADASIL based on a person’s symptoms, family history, and characteristic changes in the brain that are found using MRI (magnetic resonance imaging). These may include:
- Subcortical strokes (which happen in the part of the brain below the cortex)
- Changes in the brain’s white matter
- Small areas of bleeding (cerebral microbleeds)
- Brain atrophy
However, these characteristic brain changes are not unique to CADASIL and can happen with other disorders.
A doctor can confirm a CADASIL diagnosis by:
- Genetic testing. A blood test of the DNA to look for Notch3 genetic mutations.
- Skin biopsy. CADASIL creates changes in the blood vessels that can be seen in other parts of the body, such as the skin.
Treating CADASIL
There is no cure or effective treatment for CADASIL right now. However, given their higher risk for stroke, people with CADASIL should take steps to prevent stroke. This includes controlling high blood pressure, cholesterol, and glucose, and (in some cases) receiving antiplatelet therapy—medications that stop blood cells (platelets) from sticking together and forming blood clots. People with CADASIL should not smoke, because it can increase the risk for stroke. A doctor can provide more guidance about these steps.
Also, people with migraines associated with CADASIL can be treated with medicines and by knowing and avoiding migraine triggers, depending on how often symptoms happen. And people with depression should receive treatment for that condition as well.
Supportive care, including help with everyday activities, emotional support, and counseling, may be useful for people with CADASIL and their families.
What are the latest updates on CADASIL?
The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), is the leading federal funder of research on the brain and nervous system. NINDS and other NIH institutes support new and innovative research to better understand, diagnose, and treat CADASIL and related disorders. NINDS-funded research projects cover a wide range of topics on CADASIL.
One NINDS-supported study focuses on the Notch3 gene. Mutations in this gene cause CADASIL. These scientists are working to further develop a potential treatment called a Notch3 agonist antibody for the disease.
Other research funded by NINDS explores small vessel dysfunction in CADASIL to learn how structural and functional vascular changes are linked to tissue oxygenation (the process of supplying oxygen to the body’s cells).
In another NINDS-supported project, researchers are using cutting-edge MRI technology to study a unique group of people with CADASIL. They aim to understand the role of the blood-brain barrier (BBB) in small vessel disease (SVD)—specifically, how substances pass through the BBB. These scientists hope to establish BBB permeability imaging as an early way to detect SVD.
Scientists at the National Heart, Lung, and Blood Institute, a component of NIH, are doing a natural history study of CADASIL to learn more about how the disorder affects blood vessels over time. Researchers supported by NIH’s National Institute on Aging also are studying CADASIL to better understand the risk factors and progression of the disease.
How can I or my loved one help improve care for people with CADASIL?
Consider participating in a clinical trial so clinicians and scientists can learn more about CADASIL and related disorders. Clinical research with human study participants to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of participants are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with CADASIL at Clinicaltrials.gov.
Where can I find more information about CADASIL?
More information is available from the following resources:
National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673