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)
Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes?
Article first published online: 4 JUN 2013
© 2013 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Volume 28, Issue 10, pages 1325–1329, September 2013
How to Cite
Stamelou, M., Lai, S. C., Aggarwal, A., Schneider, S. A., Houlden, H., Yeh, T.-H., Batla, A., Lu, C.-S., Bhatt, M. and Bhatia, K. P. (2013), Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes?. Mov. Disord., 28: 1325–1329. doi: 10.1002/mds.25490
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.
- Issue published online: 23 SEP 2013
- Article first published online: 4 JUN 2013
- Manuscript Accepted: 1 APR 2013
- Manuscript Revised: 11 MAR 2013
- Manuscript Received: 1 NOV 2012
- neurodegeneration with brain iron accumulation;
- extensor axial dystonia;
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.