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

Maria Stamelou, Scarlett C. Lai, Annu Aggarwal, Susanne A. Schneider, Henry Houlden, Tu Hsueh Yeh, Amit Batla, Chin Song Lu, Mohit Bhatt, Kailash P. Bhatia

研究成果: 雜誌貢獻文章同行評審

26 引文 斯高帕斯(Scopus)

摘要

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.
原文英語
頁(從 - 到)1325-1329
頁數5
期刊Movement Disorders
28
發行號10
DOIs
出版狀態已發佈 - 九月 2013
對外發佈Yes

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

指紋 深入研究「Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes?」主題。共同形成了獨特的指紋。

引用此