CADASIL is a chronic, inherited disorder that can cause people to experience frequent migraines, multiple strokes, and possibly lead to serious physical and cognitive impairments. The name is an acronym for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. In basic terms, CADASIL is a blood vessel disorder that damages important arteries in the brain, leaving them susceptible to ruptures. There is no proven cure for CADASIL, but some patients respond well to certain types of medications to treat the symptoms. The condition can ultimately become life-threatening if a person suffers several strokes in a relatively short period of time.
Recent genetic research has revealed the possible underlying cause of CADASIL. A gene on chromosome 19 called NOTCH3 is inactive or abnormal in the vast majority of patients with the disorder. The NOTCH3 gene normally promotes growth and maintenance of smooth muscle cells that surround blood vessels. A dysfunctional NOTCH3 gene is believed to be unable to produce the right proteins for healthy cell growth, and existing smooth muscle cells cannot function properly; they spontaneously die and lead to major blood vessel damage.
CADASIL can be inherited if one parent carries a defective copy of the NOTCH3 gene. Symptoms do not typically appear until a person is in his or her 30s; exact symptoms can vary from person to person, but many people first start to experience migraines with increasing severity and frequency. Strokes can occur suddenly, bringing a loss of balance, mental confusion, and numbness or tingling sensations. People who experience strokes may lose consciousness and have trouble breathing, symptoms that require immediate medical attention. Multiple strokes can cause permanent brain damage and possibly result in paralysis and dementia.
Young patients who experience one or more stroke episodes are usually tested for CADASIL and other chronic brain disorders. Modern genetic testing is a valuable tool in uncovering problems with the NOTCH3 gene. Blood samples are taken and analyzed in a hospital laboratory to check for NOTCH3 abnormalities. Magnetic resonance imaging, ultrasounds, and other diagnostic imaging tests are often performed as well to look for signs of blood vessel damage and brain lesions.
Treatment decisions for CADASIL depend on a patient's specific symptoms. Some neurologists approve low-dose aspirin on a daily basis to help reduce the risk stroke in patients with other risk factors, like heart disease. Prescription drugs also may used to treat chronic migraine complications; certain migraine drugs, like triptans, are not approved as they can increase the risk of stroke. If a patient's mental and physical abilities begin to deteriorate, he or she may need to participate in rehabilitation sessions and enroll in an assisted living program.