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

Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

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


  • Iron
  • Phospholipases A
  • Phospholipases A2