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

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

Author information

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.

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

PMID:
27931826
DOI:
10.1016/j.jpeds.2016.10.079
[Indexed for MEDLINE]

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