Genetic and molecular mechanisms underlying spinocerebellar ataxias

Patients with spinocerebellar ataxia (SCA) suffer from balance and coordination problems caused by neuronal cell loss and damage to the small brain. SCA is caused by genetic defects and the disease can be transmitted with 50% chance to the offspring. Up to date, 31 SCA types are known and each type correlates with a different defect in a different gene. We discovered the genetic defects underlying two new types of SCA, SCA19 and SCA23. Additionally, we generated cellular models and mouse models mimicking the disease in humans in order to have a tool in which the disease mechanism can be studied. The identification of novel SCA genes does not only improve the diagnostic possibilities for ataxia patients, but also provides additional insights into the mechanism of disease contributing to new therapeutic developments.