CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)
- Article
- 2021-03-05
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an inherited form of cerebrovascular disease that occurs when the thickening of the blood vessel walls blocks blood flow to the brain. The disease mainly affects small blood vessels in the white matter of the brain. A mutation in the Notch3 gene changes the muscle walls in these small arteries. CADASIL is characterized by migraines and multiple strokes that progress to dementia. Other symptoms include cognitive decline, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk for a heart attack. Symptoms and onset of the disease vary widely, with symptoms usually appearing in the mid-1930s. Some people may not show signs of the disease until later in life. CADASIL - previously known by a variety of names, including hereditary multi-infarct dementia - is a cause of vascular cognitive impairment (dementia caused by a lack of blood to different parts of the brain). It is an autosomal dominant inherited condition, meaning that one parent carries and passes on the defective gene. Most people with CADASIL have a family history of the condition. However, because the genetic test for CADASIL was not available before 2000, many cases were misdiagnosed as multiple sclerosis, Alzheimer's disease, or other neurodegenerative diseases.
Therapy
There is no treatment to stop this genetic condition. Individuals receive supportive care. Migraine headaches can be treated with a variety of medications, and a daily aspirin can reduce the risk of stroke and heart attack. Drug therapy for depression can be given. Affected persons who smoke should stop as this may increase the risk of stroke with CADASIL. Other stroke risk factors, such as hypertension, hyperlipidemia, diabetes, blood clotting disorders, and obstructive sleep apnea, should also be treated aggressively.
Prognosis
Symptoms usually progress slowly. By age 65, most people with CADASIL have cognitive problems and dementia. Some become dependent on multiple strokes.
Did you not find what you were looking for? Search further in the
