CADASIL/CARASIL are vascular cognitive impairments, and symptoms are a result of limited blood flow to the brain, often resulting in dementia.
Symptoms of the conditions include:
- Decreased mental ability (thinking, understanding)
- Changes in behavior
- Changes in personality
The most common symptoms specific to CADASIL are migraine headaches and repeated strokes that progress to dementia. Other symptoms may include:
- Vision problems
- Severe depression
The most common symptoms of CARASIL are stiffness in the legs and difficulty walking. Other symptoms may include:
- Increased muscle tone
- Stroke episodes
- Muscle spasms
- Slurred speech
- Loss of bladder control
- Worsening movement problems
- Difficulty controlling facial muscles and speaking (pseudobulbar palsy)
Other symptoms that are associated with CARASIL, which are sometimes dismissed at first, are:
- Patchy hair loss
- Inflammation of the spine (spondyloarthropathies), causing back pain or herniated discs
Symptoms of CARASIL may progress more rapidly than those of CADASIL.
Causes and Risk Factors
CADASIL and CARASIL are both caused by a gene mutation.
The genetic cause of many cases remain to be discovered. Some cases of CADASIL are associated with changes in the NOTCH3 gene. This gene is involved with the functioning of muscle cells that make up the walls of blood vessels. Some cases of CARASIL may be caused by a change in the HTRA1 gene, which is involved in the making of new blood vessels.
CARASIL is so rare that only 50 cases have been identified, and most of these have been in Japan and China. The reported cases have affected more men than women. CADASIL, on the other hand, affects men and women equally.
Both conditions usually are diagnosed during mid-adulthood, between the ages of 20 and 50, though some patients do not show symptoms until later in adulthood. Most CADASIL patients are diagnosed by the time they are 40; most CARASIL patients are diagnosed by the time they are 30.
Patients who have CADASIL or CARASIL in their family are at an increased risk of developing the condition. Patients with CADASIL may also be at an increased risk of a heart attack.