SACS and Autosomal recessive spastic ataxia of Charlevoix-Saguenay: In support to a potential plectin involvement in ARSACS pathogenesis, we found reduced plectin levels in soluble fractions obtained from a panel of fibroblasts from patients with ARSACS harboring different SACS mutations (Supplemental Figure 4B), in 2 different clones of SACS–/– SH-SY5Y cells (Supplemental Figure 4C), and in Sacs–/– cerebellum (Supplemental Figure 4D).