Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

doi:10.1093/brain/awv143

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Article

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Brain : a journal of neurology - 1 Aug 2015

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, Alonso Isabel, Tallaksen Chantal, Mairey Mathilde, Kennerson Marina, Gaussen Marion, Schule Rebecca, Janin Maxime, Morice-Picard Fanny, Durand Christelle M, Depienne Christel, Calvas Patrick, Coutinho Paula, Saudubray Jean-Marie, Rouleau Guy, Brice Alexis, Nicholson Garth, Darios Frédéric, Loureiro José L, Zuchner Stephan, Ottolenghi Chris, Mochel Fanny, Stevanin Giovanni

Abstract excerpt

Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited pyramidal involvement also occurs in patients with an autosomal recessive neurocutaneous syndrome due to ALDH18A1 mutations. ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthase (P5CS), an enzyme that catalyses the first and common...

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PMID: 26026163
DOI: 10.1093/brain/awv143
PMCID: PMC4553756

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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