PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Neil V Morgan, Shawn K Westaway, Jenny E V Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangul, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C Trembath, Alessandro Simonati, Carolyn Schanen, Colin A JohnsonBarbara Levinson, C Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R Maher, Susan J Hayflick

Research output: Contribution to journalArticlepeer-review


Neurodegenerative 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 A2, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.

Original languageEnglish
Pages (from-to)752-754
Number of pages3
JournalNature Genetics
Issue number7
Publication statusPublished - 18 Jul 2006


  • Brain/metabolism
  • Chromosomes, Human, Pair 22/genetics
  • Female
  • Heredodegenerative Disorders, Nervous System/genetics
  • Humans
  • Iron/metabolism
  • Male
  • Mutation
  • Neuroaxonal Dystrophies/genetics
  • Phospholipases A/chemistry
  • Phospholipases A2
  • Syndrome


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