Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia - Coutelier, Marie; Goizet, Cyril; Durr, Alexandra; Habarou, Florence; Morais, Sara; Dionne-Laporte, Alexandre; Tao, Feifei; Konop, Juliette; Stoll, Marion; Charles, Perrine; Jacoupy, Maxime; Matusiak, Raphaël; et al. (Brain (London, England : 1878), 2015)
Keywords: Adolescent; Adult; Aldehyde Dehydrogenase - genetics; Arginine - metabolism; Female; Glutamic Acid - metabolism; Human health and pathology; Humans; Infectious diseases; Life Sciences; Male; Middle Aged; Mutation - genetics; Original; Ornithine - genetics; Ornithine - metabolism; Pedigree; Phenotype; Spastic Paraplegia, Hereditary - genetics; Spastic Paraplegia, Hereditary - metabolism; Young Adult; ornithine; ALDH18A1; hereditary spastic paraplegia; citrulline; delta-1-pyrroline-5-carboxylate synthase