MARS2 mutations have been previously linked to Autosomal Recessive Spastic Ataxia with Leukoencephalopathy (ARSAL) 11, presentations similar to that observed in Alpers–Huttenlocher syndrome have been reported in patients with mutations in CARS212, FARS213, PARS214, TARS215, VARS216 NARS2 16, RARS217 and WARS218. The gene discussed is MARS2; the disease is Autosomal recessive spastic ataxia with leukoencephalopathy.