NAF Ataxia Research Studies Currently Underway

Laura PW Ranum, PhD

University of Minnesota
Molecular Genetic Characterization of the spinocerebellar ataxia type 5 (SCA 5)

Summary: We recently identified the SCAS gene and currently have a manuscript under review that indicates that the SCAS mutations affect a protein that is highly expressed in the cerebellum. SCAS is a slowly progressive disease that usually does not shorten lifespan. Clinical, neuroimaging and pathological data indicate that SCAS primarily affects the cerebellum with little or no brainstem involvement, at least for adult-onset cases. Although onset typically occurs in mid-life, a broad range in the age of onset has been observed (10- 68 yrs). The identification of the SCAS gene provides a more comprehensive understanding of biochemical changes leading to this group of diseases and to the interdependence of the neuronal systems affected during SCA pathogenesis.