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

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

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

Afiliación

Westenberger A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: ana.westenberger@neuro.uni-luebeck.de.
Max C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Brüggemann N; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University of Lübeck, Lübeck, Germany.
Domingo A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Graduate School for Computing in Medicine and Life Sciences, University of Lübeck, Lübeck, Germany.
Grütz K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Pawlack H; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Weissbach A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Kühn AA; Department of Neurology, Charite, Humboldt-University, Campus Virchow-Klinikum, Berlin, Germany.
Spiegler J; Department of Pediatrics, University Medical Center Schleswig-Holstein, Campus Lübeck, Germany.
Lang AE; Department of Medicine, Division of Neurology, Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
Sperner J; Schwerpunktpraxis Neuropädiatrie, Lübeck, Germany.
Fung VSC; Movement Disorders Unit, Neurology Department, Westmead Hospital & Sydney Medical School, Sydney, Australia.
Schallner J; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Germany.
Gillessen-Kaesbach G; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
Münchau A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

J Pediatr ; 181: 306-308.e1, 2017 02.

Article en En | MEDLINE | ID: mdl-27931826

RESUMEN

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.

Asunto(s)

Adenilil Ciclasas/genética; Hemiplejía/genética; Adolescente; Niño; Humanos; Masculino; Mutación

Palabras clave

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

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Adenilil Ciclasas / Hemiplejía Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Humans / Male Idioma: En Revista: J Pediatr Año: 2017 Tipo del documento: Article

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