CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that affects small arteries (blood vessels) mainly in the brain. An abnormality in the smooth muscle cells surrounding these blood vessels causes the gradual destruction of these cells, which can lead to migraines, stroke-like episodes, dementia, and other impairments of normal brain function. CADASIL patients are also at increased risk of heart attack (myocardial infarction) because of involvement of the blood vessels in the heart.

The prevalence of CADASIL is currently unknown. Worldwide, however, more than 200 families have been described with this disorder.

Mutations in the NOTCH3 gene cause CADASIL.

The Notch3 receptor protein plays a role in the development and maintenance of vascular smooth muscle cells. CADASIL results from mutations that appear to cause the Notch3 protein to build up abnormally in the smooth muscle cells surrounding blood vessels in the brain. The accumulation of an abnormal version of the Notch3 protein is thought to cause the degeneration of these cells, leading to the loss of function of blood vessels in the brain and heart.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

You may find the following resources about CADASIL helpful.

• NIH Publications - National Institutes of Health (2 links)
• MedlinePlus - Health Information (2 links)
• Educational resources - Information pages
  Orphanet
• Patient support - For patients and families
  United Leukodystrophy Foundation, Inc.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

• Gene Reviews - Clinical summary
• Gene Tests - DNA tests ordered by healthcare professionals
• PubMed - Recent literature
• OMIM - Genetic disorder catalog

See How are genetic conditions and genes named? in the Handbook.

The Handbook provides basic information about genetics in clear language.

• What does it mean if a disorder seems to run in my family?
• What are the different ways in which a genetic condition can be inherited?
• If a genetic disorder runs in my family, what are the chances that my children will have the condition?
• Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

arteriopathy ; autosomal ; autosomal dominant ; dementia ; familial ; gene ; heart attack ; infarct ; infarction ; leukoencephalopathy ; mutation ; myocardial infarction ; protein ; receptor ; subcortical

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.