Current concepts and controversies in neurodegeneration with brain iron accumulation

Semin Pediatr Neurol. 2012 Jun;19(2):51-6. doi: 10.1016/j.spen.2012.03.004.

Abstract

Neurodegeneration with brain iron accumulation (NBIA) encompasses at least 7 genetically distinct disorders, and additional causative genes likely await identification. Recent advances have included the characterization of new genes associated with new subtypes of NBIA and also highlighted the phenotypic heterogeneity of this class of disorders. Herein, we summarize current concepts of NBIA pathogenesis and discuss important gaps in current knowledge, outlining key questions in the field.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / metabolism*
  • Humans
  • Iron / metabolism*
  • Iron Metabolism Disorders
  • Neuroaxonal Dystrophies* / genetics
  • Neuroaxonal Dystrophies* / metabolism
  • Neuroaxonal Dystrophies* / pathology
  • Phosphotransferases (Alcohol Group Acceptor) / genetics

Substances

  • Iron
  • Phosphotransferases (Alcohol Group Acceptor)

Supplementary concepts

  • Neurodegeneration with brain iron accumulation (NBIA)