Cerebellar ataxia is a rare neurological disorder that causes attacks of jerky, uncoordinated movements. Walking can become increasingly difficult, and eventually the use of a wheelchair is necessary. The name is derived from the word cerebellum, which refers to the part of the brain that controls balance and coordination. The condition has no cure and is irreversible. Treatment is available to alleviate symptoms, but not all patients respond to the drug of choice, acetazolamide.
Genetic screening has revealed that one type of ataxia is caused by mutations in a particular gene. Interestingly, the same gene causes inherited forms of epilepsy and migraine headache. Simon Kaja’s studies are aimed at understanding the impact of ataxia on certain neuronal pathways in the brain. Nerve cells (neurons) connect one area of the brain to another, via pathways, to send and receive information. Simon is comparing mutated pathways with their healthy counterparts to determine how the ataxia gene causes disruptions or blockages in brain cell communication necessary for normal movement. Ultimately, the goal is to help develop new, more effective treatments.
Completed award term, June 2008
Back to 2006 Research Trainee Awards
Research Area
Biomedical
University/Institution
University of British Columbia (Point Grey)
Research Location
Faculty/Department
Science / Michael Smith Laboratories
Supervisor
Dr. Terrance Snutch, Professor, Michael Smith Laboratories