Ataxin-3 has been linked to neurodegenerative disease after unstable CAG repeat expansions in the ATXN3 gene were identified as the cause of spinocerebellar ataxia Type 3 (SCA3), also known as Machado-Joseph Disease, the most common autosomal dominant ataxia (18). The gene discussed is ATXN3; the disease is Spinocerebellar ataxia type 3.