title: Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?
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.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.
authors.forename: Maria
authors.initials: M
authors.lastname: Stamelou
authors.forename: Scarlett C
authors.initials: SC
authors.lastname: Lai
authors.forename: Annu
authors.initials: A
authors.lastname: Aggarwal
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Schneider
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.forename: Tu-Hsueh
authors.initials: TH
authors.lastname: Yeh
authors.forename: Amit
authors.initials: A
authors.lastname: Batla
authors.forename: Chin-Song
authors.initials: CS
authors.lastname: Lu
authors.forename: Mohit
authors.initials: M
authors.lastname: Bhatt
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D000328:Adult; D001921:Brain / Q000503:physiopathology*; D001923:Brain Chemistry; D003937:Diagnosis, Differential; D020821:Dystonic Disorders / Q000453:epidemiology / Q000209:etiology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D019189:Iron Metabolism Disorders / Q000150:complications / Q000453:epidemiology / Q000503:physiopathology*; D008297:Male; D019636:Neurodegenerative Diseases / Q000150:complications / Q000453:epidemiology / Q000503:physiopathology*; D055815:Young Adult
keywords: NBIA; PANK2; PLA2G6; extensor axial dystonia; neurodegeneration with brain iron accumulation; opisthotonus; retrocollis