Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy – CADASIL-syndrome

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy – (Caddasil)

What CADASIL-syndrome?

CADASIL is a genetic disease, that affects brain function. Mutation affects muscle cells, the surrounding small blood vessels in the brain. Muscle damage leads to damage of blood vessels, that can lead to poor blood flow, and correspondingly, migraine, stroke and dementia.

Reasons CADASIL-syndrome

The appearance of CADASIL caused by a mutation in the gene Notch3. This gene is located on chromosome 19.

Risk Factors CADASIL-syndrome

The main risk factor is the presence of the disorder in one or both parents.

The symptoms of CADASIL-syndrome

For some people, the presence of CADASIL symptoms develop around the age of 30 years. Others have no symptoms ever, or occur in the elderly.

CADASIL-syndrome symptoms may include:

• Мигрень – головные боли;
• Инсульт – может возникнуть несколько эпизодов;
• Mental health problems, such as depression or anxiety;
• Convulsions;
• Memory problems (dementia).

Diagnosis of CADASIL-syndrome

Doctor:

• Studying the history of the disease, with particular emphasis on the, whether parents or other family members CADASIL;
• Ask about symptoms of the disease;
• Perform a physical exam.

For the diagnosis of CADASIL doctor may prescribe some tests:

• МРТ головного мозга – для выполнения детальных снимков структуры мозга;
• Skin biopsy, to locate anomalies in the structure of the small blood vessels;
• Genetic tests, to find the mutation Notch3.

Treatment of CADASIL-syndrome

Now researchers are studying ways to treat CADASIL.

Currently CADASIL treatment is aimed at relieving symptoms. This may include medications for the treatment of diseases such as:

• Мигрень – могут быть назначены безрецептурные или отпускаемые по рецепту обезболивающие препараты;
• Depression or anxiety;
• Behavioral problems.

Other medications are assigned, to reduce the risk of stroke or heart attack. These may include aspirin daily dose or medicines to reduce blood pressure.

When prescribing doctor must be very careful. Some drugs can make the condition worse by further reducing the blood flow in the brain.

After the diagnosis of CADASIL, the patient may experience a wide range of emotions, excitement and anxiety. To help cope with this:

• Get support from family members and friends. Talk to them about the diagnosis;
• Join a support group for people with genetic disorders;
• Learn more about CADASIL and methods, through which you can stay healthy.

Prevention CADASIL-syndrome

Now there is no known way to prevent this disorder. But, if you have a family history of CADASIL, you can talk to a genetic counselor when deciding to have children.