SACS and Ataxia: Here we aimed (i) to expand the spectrum of SACS mutations outside Quebec and to establish the pathogenicity of novel variants, (ii) to identify phenotypic characteristics that are shared by most ARSACS patients and that further help to identify ARSACS in patients with unexplained ataxia, spasticity or neuropathy, and (iii) to assess non-classical presenting phenotypes that indicate additional disease groups, in which mutational screening of SACS should be considered in the molecular genetic work-up.