SACS and Charlevoix-Saguenay spastic ataxia: Two novel homozygous variants, p.(Gly4230Ser) and p.(Leu4221Val) in the SACS gene were identified in proband HCT-106 (V-3), presenting an autosomal recessive SACS (ARSACS, MIM 270550) phenotype (Fig 3a, Table 4).