This site was developed for the sole reason for information to assist patients and the medical professionals to understand CADASIL.
I was the founder and director of CADASIL Together We Have Hope was established on May 10, 2005 as a non-profit organization which dissolved 18 years later September 2023.
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy is a genetic disease affecting the small blood vessels of the brain. It leads to a poor irrigation of certain areas of the brain which causes symptoms that vary from person to person. CADASIL affects just as many men as women. This disease is caused by ananomaly (mutation) of one single gene, called Notch3, found on chromosome 19. This gene plays a part in the formation of the blood vessels and the way they work. Its mutation has an impact on the movement of blood inside the brain.
So far, more than 200 different mutations causing the disorder have been identified. NOTCH3 plays an important role during foetal development as it regulates the formation of different kinds of tissues, for example smooth muscle in the arteriolar wall. The function of the gene later in life is still unknown. Symptoms result from changes in the arteriolar wall. Cells in the smooth muscle layer of the arteriolar walls gradually degenerate, and are replaced by connective tissue. As a consequence, the arteries thicken and become more rigid, resulting in decreased blood flow and ischemia. The exchange of nutrients between blood and tissue is also disturbed. CADASIL typically affects small branches of long arteries penetrating deep into the white matter of the brain. The long arteries have few branches and the obstruction of a branch causes restricted blood flow and oxygen deficiency. As a consequence, small lacunar Infarcts (diameter less than 20mm) develop in the white matter and in deep parts of the grey matter (the basal ganglia). This is because many blood vessels supply the outermost layer of grey brain matter. Infarcts in this area are less likely to deprive the brain of oxygen and less damage results.