Neurodegeneration with brain iron accumulation

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The spectrum of phenotypes included in the group of neurodegeneration with brain iron accumulation (NBIA) has been recently growing. It includes the genetically defi ned neurodegeneration associated with mutation in genes PANK2 (PKAN), PLA2G6 (PLAN), FA2H (FAHN), ATP13A2 (Kufor-Rakeb disease), CP (aceruloplasminemia), FTL1 (neuroferritinopathy) and the more recently identifi ed C19orf12 (MPAN), and WDR45 (BPAN). Other genetic causes are still to be identifi ed. The clinical manifestations are highly heterogenic and often overlap among the NBIA group. The core features are characterized by progressive extrapyramidal deterioration and iron accumulation in the basal ganglia. Current therapeutic options include various symptomatic approaches, and new therapies are under consideration such as surgical approaches and chelating agents.

Original languageEnglish
Title of host publicationChorea : Causes and Management
PublisherSpringer-Verlag London Ltd
Pages171-198
Number of pages28
ISBN (Print)9781447164555, 1447164547, 9781447164548
DOIs
Publication statusPublished - Apr 1 2014

Keywords

  • Childhood
  • Diagnosis
  • NBIA
  • Neurodegeneration with brain iron accumulation
  • Treatment

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Nardo, N., Cavallera, V., Chiapparini, L., & Zorzi, G. (2014). Neurodegeneration with brain iron accumulation. In Chorea : Causes and Management (pp. 171-198). Springer-Verlag London Ltd. https://doi.org/10.1007/978-1-4471-6455-5_10