In 2015, PMPCA has been identified as the gene responsible for Autosomal Recessive Cerebellar Ataxia type 2 (SCAR2), a severe mitochondrial disease and later for a Leigh-like syndrome with spastic ataxia [22,23,24,25]. The gene discussed is PMPCA; the disease is autosomal recessive ataxia due to ubiquinone deficiency.