What is CADASIL?

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare genetic disorder that affects the small blood vessels in the brain. It is caused by a mutation in the NOTCH3 gene, which leads to the buildup of a protein called granular osmiophilic material (GOM) in the walls of the blood vessels. This buildup can cause the vessels to become narrowed or blocked, leading to stroke-like symptoms, including headaches, seizures, and cognitive decline.

What are the symptoms of CADASIL?

The most common symptoms of CADASIL include recurrent migraine headaches, stroke-like episodes, cognitive decline, depression, and changes in behavior. Other symptoms may include seizures, difficulty walking, and changes in vision.

What are the causes of CADASIL?

CADASIL is caused by a mutation in the Notch3 gene, which is responsible for producing a protein that helps maintain the structure of small blood vessels in the brain. This mutation causes the walls of the blood vessels to become thick and rigid, leading to a decrease in blood flow and eventually to stroke-like symptoms.

What are the treatments for CADASIL?

Currently, there is no cure for CADASIL. Treatment focuses on managing symptoms and preventing complications. This may include medications to reduce stroke risk, such as blood thinners and cholesterol-lowering drugs. Other medications may be used to treat depression, migraine headaches, and other symptoms. Physical therapy and occupational therapy may help with muscle weakness and coordination problems. Regular monitoring of blood pressure and cholesterol levels is also important.

What are the risk factors for CADASIL?

The primary risk factor for CADASIL is having a family history of the disorder. Other risk factors include being of European descent, being male, and having a mutation in the NOTCH3 gene.

Is there a cure/medications for CADASIL?

There is no cure for CADASIL, but medications can be used to manage symptoms and slow the progression of the disease. These medications include blood pressure medications, anticoagulants, and cholesterol-lowering drugs. Additionally, lifestyle changes such as quitting smoking, exercising regularly, and eating a healthy diet can help reduce the risk of stroke and other complications associated with CADASIL.