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). Here, SACS is linked to cerebellar ataxia.