Researchers describe the cause and neurodegenerative mechanisms of a new sub-type of ataxia

The Neurogenetics Research Group at the Germans Trias i Pujol Research Group, led by Dr Antoni Matilla has found the mutation and described the molecular mechanism that causes the sub-type of ataxia SCA37, which they first described in 2013.  This find means that all the families with this alteration can be diagnosed before symptoms appear and that carriers can receive genetic counselling.  It is also the first step on developing personalized therapies.