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The cause of CADASIL is genetic in nature, as studies point out it is the mutations of Notch 3 gene on chromosome 19, which causes this heart disorder. The reason for this is that the Notch 3 gene is responsible for producing the Notch 3 receptor protein, which is crucial for the function, maintenance, and development of the vascular smooth muscle cells. The mutations lead to an abnormal version of the protein, which accumulates in the vascular smooth muscle cells, in turn leading to the muscle cells' degeneration and eventual lack of functioning in the brain and heart's blood vessels.

CADASIL Definition

CADASIL, which stands for cerebral autosomal dominant arteriopathy with subcortial artifacts and leukoencephalopathy, is a type of inherited stroke disorder, usually attacks persons aged 30-50 years old. The disease is fatal, as patients usually die around 12 years after symptoms show. The disease affects the brain's small blood vessels. CADASIL also causes an abnormality in the muscle cells around the small blood vessels, called the vascular smooth muscle cells, leading to the destruction of the blood vessel cells. Patients typically have one parent who has CADASIL; as one copy of the gene is enough to cause the condition.

CADASIL Symptoms and Signs

The damage to the blood vessels causes the symptoms of CADASIL; namely migraines, mental and emotional disorders, dementia, stroke-like episodes, and the prevention of normal brain function. A patient who has CADASIL is also in increased risk of heart attack, due to the heart's damaged blood vessels.

CADASIL Treatment

There is no known treatment for CADASIL; however once diagnosed through a magnetic resonance imaging or MRI, doctors may prescribe anti-coagulants that help slow down the condition and for stroke prevention. Patients can also be given therapy to decrease their propensity to strokes and heart attacks.

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