CADASIL

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CADASIL, is an inherited disease that affects small blood vessels, especially those leading to the brain. CADASIL affects the walls of the blood vessels, causing them to thicken to the extent that the flow of blood to the brain is diminished.
Most cases of CADASIL are inherited, or passed down from parents to children. CADASIL is the most common form of hereditary stroke disorder. It is caused by a mutation or defect in the NOTCH3 gene on chromosome 19, which affects the muscular walls of the small blood vessels in part of the brain. The NOTCH3 gene provides instructions for making the NOTCH3 receptor protein, which is essential to the normal functioning of smooth muscle cells in the blood vessels. Interestingly, the NOTCH3 gene is very similar to a mutated gene found in some forms of premature Alzheimer's disease.
When inherited, CADASIL follows an autosomal dominant pattern, meaning that only one copy of the defective gene is necessary for the disease to occur. There have been reports of CADASIL occurring in individuals with no family history of the disease. These cases may be the result of a spontaneous genetic mutation in the sperm or egg cells or in the developing embryo.
The most common symptoms associated with CADASIL include migraine headache and stroke, which are interruptions in the flow of blood to the brain. Over time, multiple strokes cause damage to the brain tissue and result in dementia, which affects cognitive function. Other symptoms may include problems with the brain tissue, decline in mental functioning, seizures, vision problems, and psychological problems such as depression. People with CADASIL may also have an increased risk of heart disease.
The exact prevalence of CADASIL is unknown. Because of the effects on mental status and cognitive functioning, some researchers question whether this disorder is underdiagnosed among psychiatric patients. Its prevalence was estimated to be about one in 50,000 adults by a Scottish study. Worldwide, about 400 families with CADASIL have been described in the scientific literature. CADASIL occurs in people from all racial and ethnic groups.
There is no cure for CADASIL, but there are many treatments to alleviate symptoms and prevent complications. Symptoms of CADASIL tend to begin at around age 30 and progress slowly. By age 65, most people with CADASIL have severe psychological problems. One study found that the mean age at death was about 65 for men and 71 for women.
The National Institute of Neurological Disorders and Stroke (NINDS) is currently conducting scientific studies to find drugs and other therapies that will reduce the cognitive problems caused by CADASIL.

Related Terms

Agnogenic medial arteriopathy, CASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, chromosome 19, chronic familial vascular encephalopathy, dementia, familial Binswanger's disease, familial disorder with subcortical ischemic strokes, familial subcortical dementia (hereditary multi-infarct type), hereditary multi-infarct dementia, leukoaraiosis, NOTCH3, subcortical vascular dementia.