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

Ana Westenberger; Christoph Max; Norbert Brüggemann; Aloysius Domingo; Karen Grütz; Heike Pawlack; Anne Weissbach; Andrea A Kühn; Juliane Spiegler; Anthony E Lang; Jürgen Sperner; Victor S C Fung; Jens Schallner; Gabriele Gillessen-Kaesbach; Alexander Münchau; Christine Klein

doi:10.1016/j.jpeds.2016.10.079

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

J Pediatr. 2017 Feb:181:306-308.e1. doi: 10.1016/j.jpeds.2016.10.079. Epub 2016 Dec 6.

Authors

Ana Westenberger¹, Christoph Max², Norbert Brüggemann³, Aloysius Domingo⁴, Karen Grütz², Heike Pawlack², Anne Weissbach², Andrea A Kühn⁵, Juliane Spiegler⁶, Anthony E Lang⁷, Jürgen Sperner⁸, Victor S C Fung⁹, Jens Schallner¹⁰, Gabriele Gillessen-Kaesbach¹¹, Alexander Münchau², Christine Klein²

Affiliations

¹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: ana.westenberger@neuro.uni-luebeck.de.
² Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
³ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University of Lübeck, Lübeck, Germany.
⁴ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Graduate School for Computing in Medicine and Life Sciences, University of Lübeck, Lübeck, Germany.
⁵ Department of Neurology, Charite, Humboldt-University, Campus Virchow-Klinikum, Berlin, Germany.
⁶ Department of Pediatrics, University Medical Center Schleswig-Holstein, Campus Lübeck, Germany.
⁷ Department of Medicine, Division of Neurology, Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
⁸ Schwerpunktpraxis Neuropädiatrie, Lübeck, Germany.
⁹ Movement Disorders Unit, Neurology Department, Westmead Hospital & Sydney Medical School, Sydney, Australia.
¹⁰ Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Germany.
¹¹ Institute of Human Genetics, University of Lübeck, Lübeck, Germany.

PMID: 27931826
DOI: 10.1016/j.jpeds.2016.10.079

Abstract

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.

Keywords: adenylate cyclase 5 (ADCY5) mutations; alternating hemiplegia of childhood (AHC); case report; chorea; pediatric movement disorder.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adenylyl Cyclases / genetics*
Adolescent
Child
Hemiplegia / genetics*
Humans
Male
Mutation

Substances

Adenylyl Cyclases
adenylyl cyclase type V

Supplementary concepts

Alternating hemiplegia of childhood