Finally, three recent expression analyses of CA11 in transgenic mice with Machado-Joseph disease (MJD), a human patient with Spinocerebellar ataxia type 3 (SCA3), and in cultured neuronal cells producing mutant Ataxin 3 showed an upregulation of CARP XI, suggesting a role for the CA11 gene in the development of ataxia in humans and mice [16]. Here, ATXN3 is linked to Machado-Joseph disease.