FAQ - CADASIL
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Does anyone know what CADASIL is?
just really wanted to know
It stands for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. The smooth muscles in the vessel walls in the brain, break down, causing a stroke. Its a genetic disorder and you can screen for it.
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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral: relating to the brain.
Autosomal Dominant: a method of genetic inheritance, whereby a single abnormal copy of a gene causes disease, even though a good copy of the gene is also present.
Arteriopathy: disease of the arteries.
Subcortical: relating to the portion of the brain immediately below the cerebral cortex, which is the part of the brain responsible for most higher functions (sensation, voluntary muscle movement, thought, reasoning, memory, etc.)
Infarcts: areas of tissue that have undergone a type of cell death called necrosis, as a result of restricted blood supply.
Leukoencephalopathy: a type of change associated with the white matter, which includes localized areas of cell death.
CADASIL is caused by mutations in a gene called Notch3, which is a protein that is involved in determining cell fate; for example, it might determine that a particular cell will be the type of cell that is present in the wall of a blood vessel, or that it will be a liver cell. Mutation in Notch3 causes the Notch3 protein to accumulate abnormally in brain vessels and peripheral tissue arteries. This also leads to diffuse loss of myelin throughout the brain, as well as deep infarcts in the white matter.CADASIL is an autosomal dominant disease, which means that a single mutated copy of the Notch3 gene overrides the one "good" copy, producing disease. This means that if a parent is affected, any children of that parent have a 50% chance of having the disorder as well. If the child receives the mutated gene, the child has a 100% chance of getting CADASIL. The most common symptoms of CADASIL include: Migraine with aura: a migraine is a vascular headache resulting from changes in the sizes of the arteries in the brain. An aura refers to an abnormal sensation that the migraine is going to occur. Psychiatric disturbance: any number of mood disorders can occur as a result of CADASIL, including depression. Ischemic episodes: Loss of blood flow to the brain, causing symptoms similar to those of a stroke. They result from low oxygen in the blood or tissues, generally as a result of an obstruction of the arterial blood flow. Cognitive deficits: these might include deficits in episodic memory and attention; the cognitive abilities generally decline as the disease worsens. Epileptic seizures Dementia. Multiple strokes. Visual impairment. Hemiparesis: paralysis of one side of the body. Progressive memory loss. Migraine can be treated with any number of drugs, including acetazolamide. Treatment of remaining symptoms of CADASIL is supportive. Other Clinical Names for CADASIL:- Hereditary multi-infarct dementia. Chronic familial vascular encephalopathy. Familial disorder with subcortical ischemic strokes. Agnogenic medial arteriopathy. Familial Binswanger's disease
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