Genetics of neurodegeneration with brain iron accumulation

Research output: Contribution to journalArticle

84 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)254-261
Number of pages8
JournalCurrent neurology and neuroscience reports
Volume11
Issue number3
DOIs
StatePublished - Jun 2011

Keywords

  • Dystonia-parkinsonism
  • Fatty acid hydroxylase-associated neurodegeneration
  • INAD
  • Kufor-Rakeb syndrome
  • NBIA
  • Neuroaxonal dystrophy
  • Neurodegeneration with brain iron accumulation
  • PKAN
  • PLAN
  • Pantothenate kinase-associated neurodegeneration
  • Woodhouse-Sakati syndrome

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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