NAF Ataxia Research Studies Currently Underway

Stefan M Pulst, MD

Cedars-Sinai Medical Center
Mutation Analysis of the KCNC3 Voltage Gated Potassium Channel in Sporadic and Familial Ataxias

Finding new ataxia genes is still important even if a dozen have already been identified. First and foremost, any new ataxia allows expanded genetic counseling. Equally as importantly, new ataxia genes tell us something about function and dysfunction of the cerebellum. We have identified the gene for SCA13. Quite surprisingly, SCA 13 gene turned out to be a potassium channel. These had not before been considered as being involved in neurodegeneration when mutated.