Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes?
Identifieur interne : 000A13 ( Main/Exploration ); précédent : 000A12; suivant : 000A14Dystonic 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.
English descriptors
- KwdEn :
- Adult, Brain (physiopathology), Brain Chemistry, Diagnosis, Differential, Dystonic Disorders (epidemiology), Dystonic Disorders (etiology), Dystonic Disorders (physiopathology), Female, Humans, Iron Metabolism Disorders (complications), Iron Metabolism Disorders (epidemiology), Iron Metabolism Disorders (physiopathology), Male, Neurodegenerative Diseases (complications), Neurodegenerative Diseases (epidemiology), Neurodegenerative Diseases (physiopathology), Young Adult.
- MESH :
- complications : Iron Metabolism Disorders, Neurodegenerative Diseases.
- epidemiology : Dystonic Disorders, Iron Metabolism Disorders, Neurodegenerative Diseases.
- etiology : Dystonic Disorders.
- physiopathology : Brain, Dystonic Disorders, Iron Metabolism Disorders, Neurodegenerative Diseases.
- Adult, Brain Chemistry, Diagnosis, Differential, Female, Humans, Male, Young Adult.
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) [
Url:
DOI: 10.1002/mds.25490
PubMed: 23736975
PubMed Central: 4208296
Affiliations:
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<front><div type="abstract" xml:lang="en"><p>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) [<italic>PLA2G6</italic>
]-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.</p>
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