Genetics of neurodegeneration with brain iron accumulation

Curr Neurol Neurosci Rep. 2011 Jun;11(3):254-61. doi: 10.1007/s11910-011-0181-3.

Abstract

The condition originally called Hallervorden-Spatz syndrome is a collection of related disorders involving abnormal iron accumulation in the basal ganglia, usually manifesting with a movement disorder. To date, mutations in the following genes have been associated with neurodegeneration with brain iron accumulation (NBIA) phenotypes: PANK2, PLA2G6, FA2H, ATP13A2, C2orf37, CP, and FTL. This collection, now classified under the umbrella term NBIA, continues to evolve as new genes and associated phenotypes are recognized. As this body of information continues to grow, better approaches to diagnosis and treatment have become available. Continued investigations of the underlying pathogenesis of disease, with a focus on lipid, iron, and energy metabolism, will lead to the identification of new therapeutic targets.

Publication types

  • Review

MeSH terms

  • Brain / metabolism*
  • Brain / pathology*
  • Humans
  • Iron / metabolism*
  • Mutation
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / metabolism
  • Neurodegenerative Diseases / pathology*
  • Pantothenate Kinase-Associated Neurodegeneration / genetics
  • Pantothenate Kinase-Associated Neurodegeneration / metabolism
  • Pantothenate Kinase-Associated Neurodegeneration / pathology
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Phosphotransferases (Alcohol Group Acceptor) / metabolism

Substances

  • Iron
  • Phosphotransferases (Alcohol Group Acceptor)
  • pantothenate kinase