Brainstem Dysfunction

In human Spinocerebellar Ataxia (SCA), death from disease correlates with pathology in the brainstem. We are interested in determining whether ion channel-mediated neuronal dysfunction extends beyond cerebellar neurons to other brain regions such as the brainstem. Answering this question is important because discovering shared changes in ion channel expression and function in the brainstem and cerebellum would suggest a particularly compelling target for pharmacological or genetic intervention. We are investigating neurons of the medullary inferior olive because they undergo prominent degeneration in SCAs. Although the exact neuronal population(s) in the brainstem that results in death in SCA is unknown, examining inferior olive neurons should give insight into vulnerability in a significantly affected neuronal population.