In our study this also occurred in two patients who were investigated for generalized dystonia, and only with the disease evolution and the diagnosis of another family member with ataxia, SCA3 was confirmed for these patients As happened in this two cases, atypical presentations can lead to an incomplete investigation, or a delay in diagnosis, therefore demonstrating that dystonia can not only happen in isolation, but can also precede, in years, the onset of ataxia [25]. Here, ATXN3 is linked to generalized dystonia.