In humans the genes encoding Josephins show expression patterns similar to ATXN3 in areas of neuronal degeneration in SCA3 patients (the subthalamopallidal, dentatorubral, pontocerebellar, and spinocerebellar systems, and lower motoneurons; Nishiyama et al., 1996), in contrast with ATX3L, that is not expressed in brain. The gene discussed is ATXN3; the disease is Spinocerebellar ataxia type 3.