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A novel heterozygous ANO3 mutation responsible for myoclonic dystonia

  • Chloé Laurencin
    Correspondence
    Corresponding author at: Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, 69000 Lyon, France.
    Affiliations
    Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, 69000 Lyon, France

    Université de Lyon, Université Claude Bernard Lyon 1, Lyon Neuroscience Research Center, INSERM, U 1028, CNRS, UMR 5292, Neuroplasticity and Neuropathology of Olfactory Perception team, F-69000 Lyon, France
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  • Emmanuel Broussolle
    Affiliations
    Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, 69000 Lyon, France

    Université de Lyon, Lyon 1 University, Lyon, F-69373; Centre de Neurosciences Cognitives de Lyon, CNRS UMR 5229, Bron F-69500, France
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  • Teodor Danaila
    Affiliations
    Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, 69000 Lyon, France
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  • Mathieu Anheim
    Affiliations
    Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France

    Département de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France

    Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France
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  • Jamel Chelly
    Affiliations
    Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France
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  • Stephane Thobois
    Affiliations
    Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, 69000 Lyon, France

    Université de Lyon, Lyon 1 University, Lyon, F-69373; Centre de Neurosciences Cognitives de Lyon, CNRS UMR 5229, Bron F-69500, France
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      Mutations of Anoctamine 3 gene (ANO3) are a rare cause of dystonia, which have first been described in families with tremulous craniocervical dystonia [
      • Charlesworth G.
      • Plagnol V.
      • Holmström K.M.
      • Bras J.
      • Sheerin U.-M.
      • Preza E.
      • et al.
      Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
      ]. Since then, the phenotypic spectrum has been extended [
      • Stamelou M.
      • Charlesworth G.
      • Cordivari C.
      • Schneider S.A.
      • Kägi G.
      • Sheerin U.-M.
      • et al.
      The phenotypic spectrum of DYT24 due to ANO3 mutations.
      ]. Notably, isolated tremor at the beginning of the disease has been observed, and could be misdiagnosed as essential tremor. More recently, childhood onset generalized dystonia has been reported [
      • Olschewski L.
      • Jesús S.
      • Kim H.-J.
      • Tunc S.
      • Löns S.
      • Junker J.
      • et al.
      Role of ANO3 mutations in dystonia: a large-scale mutational screening study.
      ]. Here, we present a family carrying ANO3 mutation and exhibiting a myoclonic dystonia and tremor phenotype.

      Keywords

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