Whole-exome sequencing identified a missense S59L mutation in the coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10) gene in a large family with a late-onset phenotype including motor neuron disease, cognitive decline resembling FTD, cerebellar ataxia and myopathy [72]. The gene discussed is CHCHD10; the disease is cerebellar ataxia.