The most common genetic cause of stroke and dementia in adults is known as CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy).
CADASIL affects families and is passed down from parents to their children through an abnormality (mutation) in a gene. 50% of the children of an affected parent will get the disease.
CADASIL damages a type of muscle cell which line blood vessels throughout the entire body. This causes the blood vessels to stiffen and leads to progressively reduced and poorly controlled blood flow to the brain. Strokes can then occur, as well as a lot of damage to the ‘wiring’ of the brain called the white matter. These lead to problems in mood, cognition and dementia. There is no current treatment.
Up to 70 CADASIL patients will participate in the current study. This will involve a small sample of fat and skin removed (cut) from the buttock, a procedure known as a gluteal biopsy. This is a safe procedure with a small chance of infection.
As the gluteal biopsy contains cells and vessels affected by CADASIL, it can then be separately analysed in the lab and tested with different chemicals to see how the affected cells respond.
It is hoped that by better understanding the biology of these cells a treatment can be found which will reduce or prevent the devastating symptoms of CADASIL. This understanding would also have a much wider benefit to more common forms of small vessel disease (SVD) that have similar symptoms.