Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes?

Authors

  • Maria Stamelou MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom
    Search for more papers by this author
  • Scarlett C. Lai MD,

    1. Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan, Taiwan
    2. Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan, Taiwan
    Search for more papers by this author
  • Annu Aggarwal MD,

    1. Center for Brain and Nervous Diseases, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, India
    Search for more papers by this author
  • Susanne A. Schneider MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom
    2. Department of Neurology, University of Kiel, Kiel, Germany
    Search for more papers by this author
  • Henry Houlden MD,

    1. Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom
    Search for more papers by this author
  • Tu-Hsueh Yeh MD,

    1. Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan, Taiwan
    2. Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan, Taiwan
    Search for more papers by this author
  • Amit Batla MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom
    Search for more papers by this author
  • Chin-Song Lu MD,

    1. Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan, Taiwan
    2. Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan, Taiwan
    Search for more papers by this author
  • Mohit Bhatt MD,

    1. Center for Brain and Nervous Diseases, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, India
    Search for more papers by this author
  • Kailash P. Bhatia MD

    Corresponding author
    1. Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom
    • Correspondence to: Dr. K. P. Bhatia, Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG United Kingdom; k.bhatia@ion.ucl.ac.uk

    Search for more papers by this author

  • Funding agencies: This study was undertaken at University College London Hospitals/UCL, which received a proportion of funding from the Department of Health's National Institute of Health Research Biomedical Research Centers funding scheme. This work was also supported in part by the National Science Council of Taiwan (grant NSC 99–2314-B-182-027-MY3 to C.-S. Lu)

  • 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.

  • The copyright line for this article was changed on 17 March 2015 after original online publication.

ABSTRACT

Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the phenotypic characterization of the dystonia has been lost. In evaluating patients with NBIAs in our centers, we have observed that action-induced dystonic opisthotonus is a common and characteristic feature of NBIAs. Here, we present a case series of patients with NBIAs presenting this feature demonstrated by videos. We suggest that dystonic opisthotonus could be a useful “red flag” for clinicians to suspect NBIAs, and we discuss the differential diagnosis of this feature. This would be particularly useful in identifying patients with NBIAs and no iron accumulation as yet on brain imaging (for example, as in phospholipase A2, group IV (cytosolic, calcium-independent) [PLA2G6]-related disorders), and it has management implications. © 2013 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

Ancillary