CADASIL

CADASIL (also known as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare inherited disorder that occurs when the thickening of the walls of small- and medium-sized blood vessels blocks the flow of blood to the brain.

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 this disease.

Symptoms and disease onset vary greatly but signs typically appear in people between the ages of 20 and 40 years, although some individuals may not show signs until later in life. Symptoms usually progress slowly; by age 65 the majority of individuals with CADASIL will have cognitive problems and dementia.

Symptoms of CADASIL include:

• Migraine headaches
• Multiple strokes progressing to dementia
• Decline in memory and thinking skills (cognitive deterioration)
• Seizures
• Vision problems
• Slow movements and tremors (parkinsonism)
• Psychiatric problems such as mood disturbances (apathy and depression)
• Numbness or weakness
• Rapid onset of vertigo, nausea/vomiting, and abnormal gait in association with head-motion intolerance and abnormal eye movements (acute vestibular syndrome)

Currently there is no cure or effective treatment for CADASIL. Supportive care, including practical help, emotional support, and counseling, is useful for affected people and their families. Migraines should be treated both symptomatically and with preventative methods, depending on the frequency of symptoms. If hypertension, diabetes, high cholesterol, or obstructive sleep apnea are also present, they should be treated. Smoking should be avoided by those with CADASIL as they can increase the risk for strokes.

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 uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers 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:

MedlinePlus

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673

PubMed

Content source: https://www.ninds.nih.gov/health-information/disorders/cadasil. Accessed July 11, 2023.

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