SACS and Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Loss of function of Sacsin causes autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), the second most common ARCAs (Synofzik et al., 2013; Bradshaw et al., 2016; Vermeer et al., 2020).