Progressive Cerebellar Ataxia is a relatively rare clinical syndrome for which curative therapies are often not available. Some types of ataxias are inherited, with the most common forms resulting from specific gene defects that generate neurotoxic proteins. Investigators in the Ataxia Research Program study the underlying disease mechanisms of different inherited ataxias with a goal of developing treatment strategies for what are now largely untreatable disorders. Two clinician-researchers within the department of Neurology form the core of ataxia research enterprise. Hank Paulson, MD, PhD studies spinocerebellar ataxia type three and the toxic proteins that are produced in this condition. Peter Todd, MD, PhD studies how nucleotide repeat expansions in ataxia genes cause neurotoxicity and cerebellar dysfunction. Several non-clinician research investigators in the department of Neurology also conduct studies aimed at better understanding and correcting the genetic causes of Spinocerebellar Ataxia. Hayley McLoughlin, PhD is a new tenure track faculty who is leading the charge in development of antisense oligonucleotide therapies for Spinocerebellar Ataxias. Maria do Carmo Costa, PhD is developing small molecule therapeutics for Spinocerebellar Ataxia Type 3 in preclinical models. Magda Ivanova, PhD uses biophysical studies to understand how proteins misfold and contribute to neurodegeneration and ataxia.
Michigan participates several clinical studies and consortia related to cerebellar ataxia, including clinical trials of new medications and drugs. Amy Ferng, MD, who serves as the co-director of the clinic, is the lead on clinical trail work and interfaces with the National Ataxia foundation and related organizations. Margit Burmeister in the department of Human Genetics, collaborates with Drs. Todd, Paulson, and Ferng using the latest approaches to identify novel disease-causing ataxia genes. Other investigators at the University of Michigan are dedicated to understanding gait disorders and speech disturbance, both of which are closely linked to ataxia. In sum, the University of the Michigan is widely recognized as a national leader in both ataxia care and research.