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

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

^*Korrespondierende/r Autor/-in für diese Arbeit

28 Zitate (Scopus)

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.

Originalsprache	Englisch
Zeitschrift	Journal of Pediatrics
Jahrgang	181
Seiten (von - bis)	306-308
Seitenumfang	3
ISSN	0022-3476
DOIs	https://doi.org/10.1016/j.jpeds.2016.10.079
Publikationsstatus	Veröffentlicht - 01.02.2017

Fördermittel

Funded by the Herman and Lilly Schilling Foundation. A.W. is funded by the Fritz Thyssen Foundation (10.14.1.233) and the German Research Foundation (WE-5888/6-1). C.M. is funded by a ?Medical Excellence: Doctoral Scholarship? from the University of L?beck, Germany. A.D. is funded by a scholarship from the German Academic Exchange Program. C.K. is funded by a career development award from the Hermann and Lilly Schilling Foundation. The authors declare no conflicts of interest.

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen
SDG 10 – Weniger Ungleichheiten

Strategische Forschungsbereiche und Zentren

Forschungsschwerpunkt: Gehirn, Hormone, Verhalten - Center for Brain, Behavior and Metabolism (CBBM)

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10.1016/j.jpeds.2016.10.079

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Westenberger, A., Max, C., Brüggemann, N., Domingo, A., Grütz, K., Pawlack, H., Weissbach, A., Kühn, A. A., Spiegler, J., Lang, A. E., Sperner, J., Fung, V. S. C., Schallner, J., Gillessen-Kaesbach, G., Münchau, A., & Klein, C. (2017). Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. Journal of Pediatrics, 181, 306-308. https://doi.org/10.1016/j.jpeds.2016.10.079

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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.",

author = "Ana Westenberger and Christoph Max and Norbert Br{\"u}ggemann and Aloysius Domingo and Karen Gr{\"u}tz and Heike Pawlack and Anne Weissbach and K{\"u}hn, \{Andrea A.\} and Juliane Spiegler and Lang, \{Anthony E.\} and J{\"u}rgen Sperner and Fung, \{Victor S.C.\} and Jens Schallner and Gabriele Gillessen-Kaesbach and Alexander M{\"u}nchau and Christine Klein",

year = "2017",

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doi = "10.1016/j.jpeds.2016.10.079",

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Westenberger, A , Max, C , Brüggemann, N, Domingo, A, Grütz, K, Pawlack, H, Weissbach, A, Kühn, AA, Spiegler, J, Lang, AE, Sperner, J, Fung, VSC, Schallner, J, Gillessen-Kaesbach, G, Münchau, A & Klein, C 2017, 'Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases', Journal of Pediatrics, Jg. 181, S. 306-308. https://doi.org/10.1016/j.jpeds.2016.10.079

TY - JOUR

T1 - Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases

AU - Westenberger, Ana

AU - Max, Christoph

AU - Brüggemann, Norbert

AU - Domingo, Aloysius

AU - Grütz, Karen

AU - Pawlack, Heike

AU - Weissbach, Anne

AU - Kühn, Andrea A.

AU - Spiegler, Juliane

AU - Lang, Anthony E.

AU - Sperner, Jürgen

AU - Fung, Victor S.C.

AU - Schallner, Jens

AU - Gillessen-Kaesbach, Gabriele

AU - Münchau, Alexander

AU - Klein, Christine

PY - 2017/2/1

Y1 - 2017/2/1

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85007574684

U2 - 10.1016/j.jpeds.2016.10.079

DO - 10.1016/j.jpeds.2016.10.079

M3 - Journal articles

C2 - 27931826

AN - SCOPUS:85007574684

SN - 0022-3476

VL - 181

SP - 306

EP - 308

JO - Journal of Pediatrics

JF - Journal of Pediatrics

ER -

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

Abstract

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UN SDGs

Strategische Forschungsbereiche und Zentren

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