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CADASIL

What are the causes?

It is known that CADASIL results from an abnormality in one very small part of the notch 3 gene. It is thought that the protein produced by the notch 3 gene is responsible for communication between cells within the body, although much work is still required to confirm this. As yet, it is not known why the abnormalities in the notch 3 gene in individuals with CADASIL result in the disease. Further research will be needed to understand the disease mechanism. Although this is not fully understood it is known that patients with CADASIL suffer from progressive damage within small blood vessels. This is likely to lead to both reduced blood flow and an inability of the blood vessels to regulate blood flow. Although abnormalities in blood vessels can be found throughout the body, they appear to be most severe in the brain, and only produce problems noticed by the person with CADASIL within the brain. It is believed that the abnormalities within the brain result in reduced blood flow to certain parts of the brain.

View What are the symptoms? What are the symptoms?  |  Inheritance patterns and prenatal diagnosis View Inheritance patterns and prenatal diagnosis

Medical text written March 2003 by Contact a Family. Last reviewed January 2008 by Professor H Markus, Professor of Neurology, St George's Hospital Medical School, London, UK.

 

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