Article: CADASIL

What is 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.

How common is CADASIL?

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

What genes are related to CADASIL?

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.

How do people inherit CADASIL?

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.

Source: Genetics Home Reference
Cache Date: April 13, 2005