Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations§

Authors

  • Susanne A. Schneider PhD,

    Corresponding author
    1. Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany
    2. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom
    3. Visting Fellow, Department of Neurology, Imperial College, London, United Kingdom
    • Schilling Section of Clinical and Molecular Neurogenetics, Department of Neurology, University Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany
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  • John Hardy PhD,

    1. Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London, United Kingdom
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  • Kailash P. Bhatia FRCP

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom
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Errata

This article is corrected by:

  1. Errata: Erratum to: Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations Volume 27, Issue 6, 809, Article first published online: 30 March 2012

  • Funding agencies: We are grateful to the Bachmann Strauss Foundation, the Medical Research Council, the Michael J. Fox Foundation, the Wellcome Trust, and the German Research Foundation, none of whom had any input in the writing of this article.

  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • §

    Full financial disclosures and author roles may be found in the online version of this article.

Abstract

In recent years, understanding of the syndromes of neurodegeneration with brain iron accumulation (NBIA) has grown considerably. In addition to the core syndromes of pantothenate kinsase–associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified. The acknowledged clinical spectrum has broadened, age-dependent presentations have been recognized, and we are becoming aware of overlap between the different NBIA disorders as well as with other diseases. Autopsy examination of genetically confirmed cases has demonstrated Lewy bodies and/or tangles in some subforms, bridging the gap to more common neurodegenerative disorders such as Parkinson's disease. NBIA genes map into related pathways, the understanding of which is important as we move toward mechanistic therapies. Our aim in this review is to provide an overview of not only the historical developments, clinical features, investigational findings, and therapeutic results but also the genetic and molecular underpinnings of the NBIA syndromes. © 2011 Movement Disorder Society

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