ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia

Aconitase 2 ( ACO2 ) encodes the mitochondrial aconitase (ACO2), an enzyme catalyzing interconversion of citrate into isocitrate in the Krebs cycle. ACO2 mutations have been initially associated with infantile cerebellar-retinal degeneration combining optic atrophy, retinal degeneration, severe encephalopathy, epilepsy, and cerebellar ataxia1–3; subsequently, ACO2 mutations have also been associated with milder presentations including isolated...