The Identification and Effects of Genetic Factors Associated with Brain Arteriovenous Malformations (BAVMs)

Brain arteriovenous malformations (BAVMs) are abnormal tangles of blood vessels in the brain. They are a common cause of bleeds inside the head in young people, and can also cause epilepsy. There is preliminary evidence suggesting that some people have a change in their genes that makes them more likely to have a BAVM.

Using samples from a Scotland-wide study of people with BAVMs, this study will investigate whether there are gene changes that cause BAVMs. The study will find out whether people who have these gene changes are more or less likely to have particular complications from their BAVM.

This work is the first step in finding out whether gene testing would help in deciding the best treatment for an affected person, and whether gene testing would be appropriate for other family members who may themselves be at risk of having a BAVM.

Scientific title: The genetic factors predisposing to brain arteriovenous malformations (BAVMs), and their effect on BAVM presentation, prognosis and response to treatment

Classification:
Applied Neuroscience, Genetic and Ethnic Factors

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