However, beneficial effect of idebenone administration was described in an old adolescent patient suffering from an infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy, diagnosed with an homozygous stop mutation in Thioredoxin 2 (TXN2). The gene discussed is TXN2; the disease is Leber hereditary optic neuropathy.