A 2007 study of 15 families with 34 affected members with ataxia and pyramidal signs orspasticity linked ARSACS to a 6.1-cM region on chromosome 17p13 named SAX2 that containsthe genes ankyrin repeat and FYVE domain-containing 1 (ANKFY1),β-arrestin 2 (ARRB2) and kinesin family member 1C(KIF1C, Bouslam et al., 2007).No mutations were detected in the coding exons of these genes, but rearrangements ormutations in their regulatory regions or in non-described exons cannot be excluded(Bouslam et al., 2007). This evidence concerns the gene ANKFY1 and Autosomal recessive spastic ataxia of Charlevoix-Saguenay.