The loss of cerebellar Purkinje cells has been reproduced in the sacsin-depleted mouse model of ARSACS; specifically, the SACS knock-out mouse demonstrates an age-dependent loss of Purkinje cells, and this is consistent with the observed progressive ataxia (Girard et al. 2012; Larivière et al. 2015). Here, SACS is linked to Charlevoix-Saguenay spastic ataxia.