CADASIL

Overview

What is CADASIL?

CADASIL is a rare genetic disorder. This means that people with CADASIL have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Genes contain instructions for proteins in the body. Because of a change in a specific gene (the NOTCH3 gene), people with CADASIL make an abnormal NOTCH3 protein. This protein is vital to the health and function of smooth muscle cells found in blood vessels. The abnormal protein can lead to lots of different problems in the body, particularly in the brain and central nervous system.

CADASIL is an acronym that stands for:

  • Cerebral - relating to the cerebrum, the main portion of the brain.
  • Autosomal Dominant - a form of inheritance in which only one altered gene (instead of two) is necessary for a disorder to appear.
  • Arteriopathy - disease of the arteries, the blood vessels that carry blood away from the heart.
  • Subcortical - related to a region of the brain below the cortex, which is the outer layer of the cerebrum. They are supplied blood by deep small arteries.
  • Infarcts - tissue loss due to a lack of oxygen that results from a loss of blood flow to the affected area.
  • Leukoencephalopathy - disease affecting the white matter of the brain, which is made up of myelin-covered nerve fibers. White matter is found in the deeper tissues of the brain (subcortical).

CADASIL leads to recurrent strokes due to lack of blood flow to certain areas of the brain. People with CADASIL may have migraines, seizures, strokes, mini-strokes, and a decline in cognitive function. Cognitive function is a person's ability to process thoughts and reason. It involves memory, perception, thinking, and reasoning. Ultimately, CADASIL results in dementia. CADASIL is caused by alterations (mutations) in the NOTCH3 gene.

References
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Are there other names for CADASIL?

How common is CADASIL?

Are there other names for CADASIL?

CADASIL is an acronym for:

  • Cerebral - relating to the cerebrum, the main portion of the brain.
  • Autosomal Dominant - a form of inheritance in which only one altered gene (instead of two) is necessary for a disorder to appear.
  • Arteriopathy - disease of the arteries, the blood vessels that carry blood away from the heart.
  • Subcortical - related to a region of the brain below the cortex, which is the outer layer of the cerebrum. They are supplied blood by deep small arteries.
  • Infarcts - tissue loss due to a lack of oxygen that results from a loss of blood flow to the affected area.
  • Leukoencephalopathy - disease affecting the white matter of the brain, which is made up of myelin-covered nerve fibers. White matter is found in the deeper tissues of the brain (subcortical).

CADASIL has gone by other names including cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, familial vascular leukoencephalopathy, and hereditary multi-infarct dementia.

References
How common is CADASIL?

CADASIL is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the amount of new people with a disorder or newly-diagnosed. Some registries have estimated that the disorder occurs in about 2-4 people per 100,000 in the general population. In Europe, the estimate is 1 in 25,00-50,000. CADASIL occurs worldwide.

References

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