Although the causative mutation of MJD is known to be an expansion of a CAG repeat motif (consensually more than 52 repeats) in the coding region of the ATXN3 gene [3], the size of the of the repetitive tract does not completely explain the clinical heterogeneity observed in this disorder, namely concerning the presence of EPS. The gene discussed is ATXN3; the disease is Machado-Joseph disease.