Cerebral small vessel disease causes both stroke and dementia. It can occasionally run in families. The most common familial cause of stroke is CADASIL. Although these hereditary cases are rare, they are very significant to the individual and their families and can be difficult to diagnose and treat. While the genes causing some types of familial small vessel disease are known, others are not.
The UK Familial stroke study is collecting details from patients throughout the UK with familial forms of stroke, both from families in whom the underlying gene is known (like CADASIL), and in others in whom the underlying gene if not known. We collect family and medical history, along with a blood sample and some brief cognitive testing.
The resource we are collecting is being used to answer a number of questions including:
- Why do some patients with CADASIL suffer more severe disease, and others less severe disease? Better understanding this may offer new treatment opportunities.
- In families with familial stroke in whom we do not know the underlying genes can we identify it. We are doing this with a technique called whole genome sequencing in which we decode a persons complete genetic material.
The Familial Stroke Study is funded by the British Heart Foundation