Morgan, Neil V.Westaway, Shawn KMorton, Jenny E. V.Gregory, AllisonGissen, PaulSonek, ScottCoryell, JasonCanham, NatalieNardocci, NardoGiovanna, GiovannaShanaz, ShanazRodriguez, DianaDesguerre, IsabelleMubaidin, AmarBertin, EnricoTrembath, Richard C.Simonati, AlessandroSchanen, CarolynJohnson, Colin A.Levinson, BarbaraWoods, C. GeoffreyWilmot, BethKramer, PatriciaGitschier, JaneMaher, Eamonn R.Hayflick, Susan J.2021-08-112021-08-112006Morgan, N. V. vd. (2006). ''PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron''. Nature Genetics, 38(7), 752-754.1061-4036https://doi.org/10.1038/ng18261061-4036http://hdl.handle.net/11452/21406Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy ( INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A(2), in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.eninfo:eu-repo/semantics/openAccessGenetics & heredityInvolvementHallervorden-spatz-syndromeInfantile neuroaxonal dystrophyBrainChromosomes, Human, Pair 22FemaleHeredodegenerative DisordersNervous SystemHumansIronMaleMutationNeuroaxonal DystrophiesPhospholipases ASyndromeArticle0002386693000092-s2.0-3374555389575275438716783378Genetics & heredityPantothenate Kinase-Associated Neurodegeneration; Neuroaxonal Dystrophies; Neurodegeneration with Brain Iron AccumulationCalciumIronPhospholipase A2Alzheimer diseaseChromosome 22qDegenerative diseaseFrameshift mutationGeneGene locusGene mappingGene mutationHomeostasisHumanKarak syndromeMissense mutationNerve degenerationNeuroaxonal dystrophyParkinson diseasePathogenesisPLA2G6 gene