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CADASIL
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CADASILWhat 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. Where can I find information about CADASIL?You may find the following resources about CADASIL helpful.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for CADASIL?
See How are genetic conditions and genes named? in the Handbook. What if I still have specific questions about CADASIL?
Where can I find general information about genetic conditions?The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful. What glossary definitions help with understanding CADASIL?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.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook. |