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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited form of stroke and other impairments. This condition affects small blood vessels, mainly in the brain. An abnormality in the muscle cells surrounding these blood vessels (vascular smooth muscle cells) gradually destroys the blood vessel cells. The resulting blood vessel damage can lead to migraines, emotional and mental disorders, stroke-like episodes, dementia, and other impairments of normal brain function. Patients with CADASIL are also at increased risk of heart attack (myocardial infarction) because of damaged blood vessels in the heart. Most patients with CADASIL do not have the common risk factors for stroke and heart attack, such as high blood pressure and high cholesterol, although in some cases these features may also be present.
The prevalence of CADASIL is unknown. A Scottish study suggested the prevalence of CADASIL in that population was about 2 in every 100,000 adults. Worldwide, approximately 400 families have been described with this disorder.
Mutations in the NOTCH3 gene cause CADASIL.
The NOTCH3 gene makes a protein called the Notch3 receptor protein, which plays a role in the development, function and maintenance of vascular smooth muscle cells. Mutations in the NOTCH3 gene lead to an abnormal version of the Notch3 protein that builds up in vascular smooth muscle cells. Accumulation of the abnormal Notch3 protein is thought to cause the degeneration of these muscle cells, leading to the loss of function of blood vessels in the brain and heart.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.
In most cases, an affected person has one parent with the condition.
A few rare cases of patients with new mutations in the NOTCH3 gene have been identified.
'''CADASIL''' stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy and is a genetic disease characterised by migraines with aura, cerebrovascular disease causing dementia and stroke. The disease is caused by a mutation of the NOTCH3 gene. Some patients also experience mood disorders and epilepsy. CADASIL brain damage is characterized by subcortical infarcts, white matter damage and microbleeds. An ultrastructural analysis shows small caliber arterial damage, consisting in smooth muscle cells loss, swollen endothelial cells and osmiophilic deposits. There is some evidence showing that clinical progression depends on mutation's localization in the gene sequence. CADASIL has only recently been discovered and only around 400 families with the disease have been diagnosed. However, it is believed that the disease is far more prevalent than current diagnoses indicate.