title: Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
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.
authors.affiliation: Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: ana.westenberger@neuro.uni-luebeck.de.
authors.forename: Ana
authors.initials: A
authors.lastname: Westenberger
authors.affiliation: Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Max
authors.affiliation: Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University of Lübeck, Lübeck, Germany.
authors.forename: Norbert
authors.initials: N
authors.lastname: Brüggemann
authors.affiliation: Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Graduate School for Computing in Medicine and Life Sciences, University of Lübeck, Lübeck, Germany.
authors.forename: Aloysius
authors.initials: A
authors.lastname: Domingo
authors.affiliation: Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
authors.forename: Karen
authors.initials: K
authors.lastname: Grütz
authors.affiliation: Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
authors.forename: Heike
authors.initials: H
authors.lastname: Pawlack
authors.affiliation: Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
authors.forename: Anne
authors.initials: A
authors.lastname: Weissbach
authors.affiliation: Department of Neurology, Charite, Humboldt-University, Campus Virchow-Klinikum, Berlin, Germany.
authors.forename: Andrea A
authors.initials: AA
authors.lastname: Kühn
authors.affiliation: Department of Pediatrics, University Medical Center Schleswig-Holstein, Campus Lübeck, Germany.
authors.forename: Juliane
authors.initials: J
authors.lastname: Spiegler
authors.affiliation: Department of Medicine, Division of Neurology, Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
authors.affiliation: Schwerpunktpraxis Neuropädiatrie, Lübeck, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Sperner
authors.affiliation: Movement Disorders Unit, Neurology Department, Westmead Hospital & Sydney Medical School, Sydney, Australia.
authors.forename: Victor S C
authors.initials: VSC
authors.lastname: Fung
authors.affiliation: Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Germany.
authors.forename: Jens
authors.initials: J
authors.lastname: Schallner
authors.affiliation: Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.affiliation: Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Münchau
authors.affiliation: Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
mesh_terms: D000262:Adenylyl Cyclases / Q000235:genetics*; D000293:Adolescent; D002648:Child; D006429:Hemiplegia / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D000262:Adenylyl Cyclases; C419510:adenylyl cyclase type V
keywords: adenylate cyclase 5 (ADCY5) mutations; alternating hemiplegia of childhood (AHC); case report; chorea; pediatric movement disorder