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, SYNE1 is linked to Charlevoix-Saguenay spastic ataxia.