About CARASIL

What is CARASIL?

CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare genetic disorder that affects the arteries of the brain. It is caused by mutations in the HTRA1 gene and is characterized by progressive narrowing of the arteries in the brain, leading to stroke-like episodes, cognitive decline, and movement disorders.

What are the symptoms of CARASIL?

The most common symptoms of CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) include:

-Headaches
-Stroke-like episodes
-Difficulty walking
-Loss of coordination
-Loss of vision
-Difficulty speaking
-Difficulty swallowing
-Seizures
-Mental impairment
-Behavioral changes
-Muscle weakness
-Loss of sensation in the extremities
-Loss of bladder and bowel control

What are the causes of CARASIL?

CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare genetic disorder caused by mutations in the HTRA1 gene. It is an autosomal recessive disorder, meaning that both parents must carry the mutated gene in order for their child to be affected. The HTRA1 gene is responsible for producing an enzyme that helps to break down proteins in the body. When this enzyme is not functioning properly, proteins can build up in the walls of the arteries, leading to narrowing and hardening of the arteries. This can cause a decrease in blood flow to the brain, leading to stroke-like symptoms. Other symptoms of CARASIL include cognitive decline, dementia, and movement disorders.

What are the treatments for CARASIL?

CARASIL is a rare, progressive disorder that affects the small arteries in the brain and spinal cord. Treatment for CARASIL is focused on managing symptoms and slowing the progression of the disease. Treatment options may include medications to reduce inflammation, physical therapy to improve mobility, and lifestyle modifications to reduce the risk of complications. In some cases, surgery may be recommended to improve blood flow to the brain and spinal cord.

What are the risk factors for CARASIL?

The risk factors for CARASIL include:

1. Age: CARASIL is more common in people aged 30-50.

2. Gender: CARASIL is more common in men than women.

3. Ethnicity: CARASIL is more common in people of Asian descent.

4. Family history: People with a family history of CARASIL are more likely to develop the condition.

5. Hypertension: People with high blood pressure are more likely to develop CARASIL.

6. Smoking: Smoking increases the risk of developing CARASIL.

Is there a cure/medications for CARASIL?

There is no cure for CARASIL, but medications can be used to manage symptoms. These include medications to reduce inflammation, such as corticosteroids, and medications to reduce blood pressure, such as ACE inhibitors. Physical therapy and lifestyle changes, such as quitting smoking and exercising regularly, can also help manage symptoms.