Its presenting symptoms comprised ataxia (AR53 (SACS), AR120 (SACS), AR103 (ANO10), AR109 (SYNE1), AR267(CACNA1A)), delayed motor milestones (AR77 (SACS), AR252 (SACS), AR111 (KIF1C)), cognitive regression (AR108 (SPG11)), and upper limb tremors (AR96(KIF1C)); we highlight, due to its rarity, the presence of seizures in AR77 (SACS) and the spastic ataxia phenotype in AR267 (CACNA1A). This evidence concerns the gene SACS and Ataxia.