Extensive genetic testing was performed and was negative including Friedreich’s ataxia repeat expansion (n = 56), common SCAs repeat expansions (n = 54), mitochondrial DNA sequencing (n = 37), DNA polymerase gamma (POLG) sequencing (n = 5) and next-generation sequencing targeted panels encompassing genes associated with neuropathy and/or ataxia (n = 25). Here, POLG is linked to cerebellar ataxia.