Novel Adenylate Cyclase 5 Gene (ADCY5) Mutations Cause a New Phenotype of Alternating Hemiplegia of Childhood (AHC), Expanding the Clinical Spectrum of ADCY5-Related Hyperkinetic Dyskinesias

J. Schallner; A. Westenberger; C. Klein; M. von der Hagen; G. Gillessen-Kaesbach; A. Münchau

doi:10.1055/s-0036-1583738

Neuropediatrics, Table of Contents

Novel Adenylate Cyclase 5 Gene (ADCY5) Mutations Cause a New Phenotype of Alternating Hemiplegia of Childhood (AHC), Expanding the Clinical Spectrum of ADCY5-Related Hyperkinetic Dyskinesias

J. Schallner ¹, A. Westenberger ², C. Klein ², M. von der Hagen ¹, G. Gillessen-Kaesbach ³, A. Münchau ²

¹Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Germany
²Department of Neurogenetics, University of Lübeck, Lübeck, Germany
³Institute of Human Genetics, University of Lübeck, Lübeck, Germany

Abstract

Background/Purpose: Mutations in the ADCY5 gene are the cause of a rare childhood-onset, hyperkinetic movement disorder including variably pronounced chorea, myoclonus and dystonia, often with oro-facial myoclonus. Expanding the clinical spectrum of mutations in the ADCY5 gene, we present two boys with a new phenotype reminiscent of alternating hemiplegia of childhood (AHC).

Methods: We report two boys with similar clinical phenomenology. Both had generalized chorea and facial myoclonus interictally. They also presented with paroxysmal attacks of AHC-like paralysis since early childhood.

Results: In each of the patients, a novel mutation in the ADCY5 gene (c.3045C > A; p.Asp1015Glu and c.3074A > T; p.Glu1025Val) was found.

Conclusion: These two male patients carrying novel mutations in the ADCY5 gene expand the phenotypic spectrum of ADCY5-related dyskinesia. Genetic analysis of ADCY5 should be considered in patients with AHC-like symptoms, particularly when associated with interictal hyperkinetic movement disorders.