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.

Rutten J, Lesnik Oberstein SAJ. CADASIL. GeneReviews website.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Genetics Home Reference website.

CADASIL. The National Organization for Rare Disorders website.

Dichgans M. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. UpToDate Inc. website.

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