Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases

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• 作者：Ana Westenberger ; PhD¹ ; ^* ; ^{ana.westenberger@neuro.uni-luebeck.de} ; Christoph Max ; BSc¹ ; ^* ; Norbert Brü ; ggemann ; MD¹ ; ² ; Aloysius Domingo ; MD¹ ; ³ ; Karen Grü ; tz ; MSc¹ ; Heike Pawlack ; BSc¹ ; Anne Weissbach ; MD¹ ; Andrea A. Kü ; hn ; MD⁴ ; Juliane Spiegler ; MD⁵ ; Anthony E. Lang ; MD⁶ ; Jü ; rgen Sperner ; MD⁷ ; Victor S.C. Fung ; PhD⁸ ; Jens Schallner ; MD⁹ ; Gabriele Gillessen-Kaesbach ; MD¹⁰ ; Alexander Mü ; nchau ; MD¹ ; Christine Klein ; MD¹
• 关键词：case report ; adenylate cyclase 5 (ADCY5) mutations ; alternating hemiplegia of childhood (AHC) ; chorea ; pediatric movement disorder
• 刊名：The Journal of Pediatrics
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：181
• 期：Complete
• 页码：306-308.e1
• 全文大小：347 K
• 卷排序：181

文摘

Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.