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DOI: 10.1055/s-0036-1583738
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
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.