We now know that CADASIL results from an abnormality in one very small part of a gene known as NOTCH3. We think that the protein produced by the NOTCH3 gene, is responsible for communication between cells within the body, although much work is still required on this subject. As yet, we don’t know why the abnormalities in theNOTCH3 gene in individuals with CADASIL, result in the disease. It is likely that it will take a number of years to fully understand the process. A better understanding of the way in which the NOTCH3 gene works may allow the development of treatments for CADASIL in the future.
Although we don’t fully understand the process, we do know that patients with CADASIL suffer from progressive damage to the small vessels in the body that carry blood (blood vessels). This is likely to lead to 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. This in turn leads to the problems in the brain seen in CADASIL.