Mayo Clinic contributes to diagnostic, therapeutic advance for rare neurodegenerative disorder

Mayo Clinic researchers, along with national and global collaborators, have developed a potential test for Machado-Joseph disease, or spinocerebellar ataxia type 3 (SCA3) ― a disease that has no cure. They also have clarified the role of a gene target associated with the disease.

The inherited disease is linked to a mutation in the ATXN3 gene. This mutation, which affects the central nervous system, appears between the ages of 40 and 70, and is characterized by an unsteady gait, loss of muscle control, and decline of motor and sensory nerves. Symptoms may resemble those of Parkinson’s disease or multiple sclerosis. The researchers present their findings in Science Translational Medicine.