ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
نویسندگان
چکیده
Aconitase 2 (ACO2) encodes the mitochondrial aconitase (ACO2), an enzyme catalyzing interconversion of citrate into isocitrate in the Krebs cycle. ACO2mutations have been initially associated with infantile cerebellar-retinal degeneration combining optic atrophy, retinal degeneration, severe encephalopathy, epilepsy, and cerebellar ataxia; subsequently, ACO2 mutations have also been associated with milder presentations including isolated optic atrophy or cerebellar ataxia without optic atrophy. We report here a patient presenting with a novel ACO2 phenotype associating optic atrophy with spastic paraplegia.
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