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

Stamelou, M; Schneider, SA; Batla, A; Bhatia, KP; Lai, SC; Yeh, T-H; Lu, C-S; ... Houlden, H; + view all (2013) Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? Movement Disorders , 28 (10) 1325 - 1329. 10.1002/mds.25490. Green open access

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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 International Parkinson and Movement Disorder Society.

Type: Article
Title: Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes?
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/mds.25490
Publisher version: http://dx.doi.org/10.1002/mds.25490
Additional information: © 2013 International Parkinson and Movement Disorder Society. Full text made available to UCL Discovery by kind permission of Wiley.
Keywords: neurodegeneration with brain iron accumulation; NBIA; opisthotonus; retrocollis; extensor axial dystonia; PLA2G6; PANK2;
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > ION Central Administration
URI: http://discovery.ucl.ac.uk/id/eprint/1413055
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