Research Grant Award

Stefan M Pulst, MD

Cedars-Sinai Medicine Center/Medicine
A Novel Ataxia in a Pedigree from the Philippines

Spinocerebellar ataxias (SCA) are a growing group of heterogeneous neurodegenerative diseases with symptoms ranging from balance and coordination difficulties, walking difficulty, slurred speech, and visual disturbances. A total of 23 types are known, and for 10 the causative gene or mutation has been determined. The majority of these are represented by abnormal CAG repeat expansions. Despite the remarkable progress in identifying responsible mutations for SCAs, approximately 40% remain unaccounted for. The clinical characterization and identification of new ataxia genes has thus far provided valuable and unique insights regarding each disease mutation. We have identified a large family carrying a dominant trait for cerebellar ataxia. We have excluded known SCA mutations and completed a screen for this new mutation. We now intend to complete our screen and increase the number of samples from this large family for eventual gene identification. By increasing our understanding of the genes underlying the pathology seen in cerebellar ataxia, we hope to one day contribute to the development of effective treatments, and possible cure for spinocerebellar ataxia. Immediate implications of this research are improved diagnosis and genetic counseling for families with inherited ataxias.