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ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome

  • Author Footnotes
    1 These authors contributed equally to this work.
    Giulia Straccia
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Neurology and Stroke Unit, C.T.O. Hospital, A.O.R.N. “Ospedali dei Colli”, Naples, Italy
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  • Author Footnotes
    1 These authors contributed equally to this work.
    Chiara Reale
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
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  • Massimo Castellani
    Affiliations
    Nuclear Medicine Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
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  • Isabel Colangelo
    Affiliations
    Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
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  • Eva Orunesu
    Affiliations
    Nuclear Medicine Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
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  • Sara Meoni
    Affiliations
    Movement Disorders Unit, Division of Neurology, CHU Grenoble Alpes, Grenoble, France
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  • Elena Moro
    Affiliations
    Movement Disorders Unit, Division of Neurology, CHU Grenoble Alpes, Grenoble, France
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  • Paul Krack
    Affiliations
    Department of Neurology, Bern University Hospital and University of Bern, Bern, Switzerland
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  • Holger Prokisch
    Affiliations
    Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany
    Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany
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  • Author Footnotes
    1 These authors contributed equally to this work.
    Michael Zech
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany
    Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany
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  • Author Footnotes
    1 These authors contributed equally to this work.
    Luigi Michele Romito
    Correspondence
    Corresponding author. Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Giovanni Celoria 11, 20133, Milan, Italy.
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
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  • Author Footnotes
    1 These authors contributed equally to this work.
    Barbara Garavaglia
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
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  • Author Footnotes
    1 These authors contributed equally to this work.
Published:September 23, 2022DOI:https://doi.org/10.1016/j.parkreldis.2022.09.012

      Highlights

      • Dystonia-Deafness syndrome (DDS) can result from several known or unknown molecular or genetic causes.
      • ACTB (cytoplasmic beta actin) gene mutations can produce complex phenotypic spectra, like DDS and late-onset parkinsonism.
      • Pallidal Deep Brain Stimulation may produce a significant long-term benefit on dystonic signs of DDS.

      Abstract

      We report a Dystonia-Deafness syndrome patient treated by pallidal Deep Brain Stimulation with significant long-term benefits. Our study expands and confirms the complex phenotypic spectrum of ACTB gene-related disorders and supports the effectiveness of pallidal stimulation on motor outcomes and quality of life in dystonia due to ACTB p.Arg183Trp heterozygosity.

      Abbreviations:

      DDS (Dystonia-Deafness syndrome), BWCFE (Baraitser-Winter cerebrofrontofacial syndrome), ACTB (Cytoplasmic beta actin), GPi-DBS (Globus Pallidus internus Deep Brain Stimulation), BFMDRS-M (Burke-Fahn-Marsden Dystonia Rating Scale-Motor), MIBG (meta-iodobenzylguanidine)
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