Grant: Master's Award: Canada Graduate Scholarships

The cerebellar ataxias are a group of neurodegenerative disorders characterized by the degeneration of the lower posterior part of the brain called the cerebellum. To date, more than 28 different types of spinocerebellar ataxias (SCAs) have been recognized and the causative gene is known for 18 of these. Twelve Franco-Ontarian (FO) families have been seen at the Children's Hospital of Eastern Ontario Neurogenetics Clinic with a new form of SCA. Their disorder is characterized by onset in the 20s-40s with a slow and progressive course; lifespan however, remains normal. Symptoms include loss of body movement control, slurred speech, and difficulty swallowing. Patients also demonstrate problems with balance, vision, breathing and coordination. In addition, cell death in the cerebellum is observed by MRI. Given the common presentation, ethnic background and regional localization it is believed that the abnormal gene in the twelve FO families is the same. Genetic testing for the known SCA genes has proven negative and now identification and characterization of a new SCA gene is underway using next generation sequencing. The arrival of this technology has revolutionized the field of molecular genetics and will lead to the rapid identification of the variant SCA gene. Identification of the disease causing gene will not only facilitate patient care by allowing accurate molecular diagnosis but it will also allow for predictive testing for at risk family members. Furthermore, characterization of this new SCA subtype will provide patients with more information regarding their prognosis and potential management options. Finally, the molecular pathways that lead to neurological dysregulation in this form of SCA will be explored. We will gain insight into understanding the mechanisms that underlie the field of neurodegenerative disorders.