Research Award

Shirley Rainier, PhD

University of Michigan, Ann Arbor, MI
Spinocerebellar Ataxia: Three novel genetic forms

There are many different types of inherited ataxia. Seventeen ataxia genes have been identified. We evaluated three large families that have distinct forms of ataxia. In the first family, ataxia and involuntary movements begin very rapidly (sometimes overnight) and then worsen
slowly over years. In the second family, progressive tremor begins in childhood and is followed by worsening ataxia in adulthood. In the third family, progressive ataxia involving speech, walking, and the arms begins in adulthood. Genetic testing of each family shows that there are no mutations in ataxia genes that are available for analysis. The proposed investigation will perform genetic analysis of each family to discover the location of the mutant gene causing ataxia. Discovering new ataxia genes will increase our knowledge of the molecular processes that cause ataxia. This will increase our ability to develop or discover treatments for ataxia.