A human microglial cell model of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

• Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare disorder caused by loss-of-function mutations in the sacsin chaperone. • Sacsin was initially described as a neuronal protein but is also found in astroglia and microglia. • We developed and characterized a new microglial cell model of ARSACS based on human HMC3 cells. • HMC3Sacs− /− cells show aberrant distribution of vimentin and mitochondrial networks, and other alterations with potential consequences on neuroinflammation. • Our results support a possible role for microglial cells in ARSAC