Literature DB >> 27931826

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

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.   

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.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

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

Mesh：

Substances：

Year:  2016        PMID： 27931826     DOI： 10.1016/j.jpeds.2016.10.079

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  8 in total

1.  Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.

Authors:  Aurélie Méneret; Emmanuel Roze; Jean-Baptiste Maranci; Pauline Dodet; Diane Doummar; Florence Riant; Christine Tranchant; Valérie Fraix; Mathieu Anheim; Asya Ekmen; Eavan McGovern; Marie Vidailhet; Isabelle Arnulf; Smaranda Leu-Semenescu
Journal:  J Clin Sleep Med       Date:  2019-07-15       Impact factor: 4.062

Review 2.  ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.

Authors:  Nirosen Vijiaratnam; Kailash P Bhatia; Anthony E Lang; Wendy H Raskind; Alberto J Espay
Journal:  Mov Disord Clin Pract       Date:  2019-08-19

Review 3.  Physiological roles of mammalian transmembrane adenylyl cyclase isoforms.

Authors:  Katrina F Ostrom; Justin E LaVigne; Tarsis F Brust; Roland Seifert; Carmen W Dessauer; Val J Watts; Rennolds S Ostrom
Journal:  Physiol Rev       Date:  2021-10-26       Impact factor: 37.312

Review 4.  Emerging Monogenic Complex Hyperkinetic Disorders.

Authors:  Miryam Carecchio; Niccolò E Mencacci
Journal:  Curr Neurol Neurosci Rep       Date:  2017-10-30       Impact factor: 5.081

5.  ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

Authors:  Andrew G L Douglas; Gaia Andreoletti; Kevin Talbot; Simon R Hammans; Jaspal Singh; Andrea Whitney; Sarah Ennis; Nicola C Foulds
Journal:  Neurogenetics       Date:  2017-02-22       Impact factor: 2.660

Review 6.  Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Authors:  Giacomo Garone; Alessandro Capuano; Lorena Travaglini; Federica Graziola; Fabrizia Stregapede; Ginevra Zanni; Federico Vigevano; Enrico Bertini; Francesco Nicita
Journal:  Int J Mol Sci       Date:  2020-05-20       Impact factor: 5.923

Review 7.  Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.

Authors:  Lucia Abela; Manju A Kurian
Journal:  J Inherit Metab Dis       Date:  2018-06-13       Impact factor: 4.982

8.  ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

Authors:  Miryam Carecchio; Niccolò E Mencacci; Alessandro Iodice; Roser Pons; Celeste Panteghini; Giovanna Zorzi; Federica Zibordi; Anastasios Bonakis; Argyris Dinopoulos; Joseph Jankovic; Leonidas Stefanis; Kailash P Bhatia; Valentina Monti; Lea R'Bibo; Liana Veneziano; Barbara Garavaglia; Carlo Fusco; Nicholas Wood; Maria Stamelou; Nardo Nardocci
Journal:  Parkinsonism Relat Disord       Date:  2017-05-10       Impact factor: 4.891
  8 in total

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