Case report| Volume 57, P167-168, November 2018

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Depression and psychosis in ADCY5-related dyskinesia—part of the phenotypic spectrum?

Published:August 29, 2018DOI:


      • Mutations in the adenylyl cyclase 5 (ADCY5) gene results in a spectrum of movement disorders.
      • The associated phenotype continues to grow since the initial description.
      • Neuropsychiatric symptoms are rare and poorly described.
      • The spectrum of psychiatric manifestations is detailed in a family.
      • Potential pathogenesis is explored.


      This report details prominent neuropsychiatric features in one family with an ADCY5 gene mutation. ADCY5 mutations cause a variable motor phenotype, though most cases have some core involuntary movement features. The psychiatric aspects of the disorder have not been emphasised in previous publications. We discuss possible pathogenesis.


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        • Chen D.H.
        • Meneret A.
        • Friedman J.
        • et al.
        ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations.
        Neurology. 2015; 85: 2026-2035
        • Douglas A.
        • Andreoletti Talbot K.
        • et al.
        ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
        Neurogenetics. 2017; 18: 111-117
        • Waalkens A.
        • Vansenne F.
        • Van der Hout A.
        • et al.
        Expanding the ADCY5 phenotype toward spastic paraparesis.
        Neurol Genet. 2018; 4e214
        • Howes O.D.
        • McCutcheon R.
        • Owen M.J.
        • et al.
        The role of genes, stress and dopamine in the development of schizophrenia.
        Biol Psychiatry. 2017; 81: 9-20
        • Chen Y.Z.
        • Friedman J.R.
        • Chen D.H.
        • et al.
        Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
        Ann Neurol. 2014; 75: 542-549
        • Carapito R.
        • Paul N.
        • Untrau M.
        • et al.
        A De Novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
        Mov Disord. 2015; 30: 423-427
        • Kim H.
        • Lee Y.
        • Park J.Y.
        • et al.
        Loss of adenylyl cyclase type-5 in the dorsal striatum produces autistic-like behaviors.
        Mol Neurobiol. 2017; 54: 7994-8008
        • Cho K.H.
        • Lee J.E.
        • Song S.K.
        • Lee P.H.
        Chorea induced by antihistamine drugs.
        Mov Disord. 2010; 25: 519-520