Functional characterization of low-voltage activated T-type calcium channels in cerebellar slices of wild-type and P/Q-type calcium channel mutant mice

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.