Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes?
Identifieur interne : 000692 ( Main/Exploration ); précédent : 000691; suivant : 000693Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes?
Auteurs : Maria Stamelou [Royaume-Uni] ; Scarlett C. Lai [Taïwan] ; Annu Aggarwal [Inde] ; Susanne A. Schneider [Royaume-Uni, Allemagne] ; Henry Houlden [Royaume-Uni] ; Tu-Hsueh Yeh [Taïwan] ; Amit Batla [Royaume-Uni] ; Chin-Song Lu [Taïwan] ; Mohit Bhatt [Inde] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2013-09.
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.
Url:
DOI: 10.1002/mds.25490
Affiliations:
- Allemagne, Inde, Royaume-Uni, Taïwan
- Angleterre, Grand Londres, Schleswig-Holstein
- Kiel, Londres
- University College de Londres
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Bhatia</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">University College de Londres</orgName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><date type="published" when="2013-09">2013-09</date><biblScope unit="volume">28</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1325">1325</biblScope><biblScope unit="page" to="1329">1329</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B90F10190595C4456E1014E6F47DB7459139B737</idno><idno type="DOI">10.1002/mds.25490</idno><idno type="ArticleID">MDS25490</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="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.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Inde</li><li>Royaume-Uni</li><li>Taïwan</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Schleswig-Holstein</li></region><settlement><li>Kiel</li><li>Londres</li></settlement><orgName><li>University College de Londres</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name></region><name sortKey="Batla, Amit" sort="Batla, Amit" uniqKey="Batla A" first="Amit" last="Batla">Amit Batla</name><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></country><country name="Taïwan"><noRegion><name sortKey="Lai, Scarlett C" sort="Lai, Scarlett C" uniqKey="Lai S" first="Scarlett C." last="Lai">Scarlett C. Lai</name></noRegion><name sortKey="Lai, Scarlett C" sort="Lai, Scarlett C" uniqKey="Lai S" first="Scarlett C." last="Lai">Scarlett C. Lai</name><name sortKey="Lu, Chin Ong" sort="Lu, Chin Ong" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name><name sortKey="Lu, Chin Ong" sort="Lu, Chin Ong" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name><name sortKey="Yeh, Tu Sueh" sort="Yeh, Tu Sueh" uniqKey="Yeh T" first="Tu-Hsueh" last="Yeh">Tu-Hsueh Yeh</name><name sortKey="Yeh, Tu Sueh" sort="Yeh, Tu Sueh" uniqKey="Yeh T" first="Tu-Hsueh" last="Yeh">Tu-Hsueh Yeh</name></country><country name="Inde"><noRegion><name sortKey="Aggarwal, Annu" sort="Aggarwal, Annu" uniqKey="Aggarwal A" first="Annu" last="Aggarwal">Annu Aggarwal</name></noRegion><name sortKey="Bhatt, Mohit" sort="Bhatt, Mohit" uniqKey="Bhatt M" first="Mohit" last="Bhatt">Mohit Bhatt</name></country><country name="Allemagne"><region name="Schleswig-Holstein"><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. 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