Comparing the cerebellar transcriptome of Sacs KO versus WT mice

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in SACS gene encoding sacsin. ARSACS patients and mouse models display early degeneration of cerebellum in agreement with high sacsin expression in this organ. We performed unbiased transcriptomic of cerebella from Sacs KO mice versus controls to dissect the mechanisms underlying cerebellar degeneration in ARSACS. Overall design: Cerebella derived from 5 Sacs KO versus 5 WT littermates at 5 months of age.