Cortical excitability in DYT-11 positive myoclonus dystonia

Authors

  • Sabine Meunier MD, PhD,

    1. INSERM, U731, Paris, France
    2. Université Pierre et Marie Curie-Paris 6, UMR S731, Paris, France
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  • George Lourenco PhD,

    1. INSERM, U731, Paris, France
    2. Université Pierre et Marie Curie-Paris 6, UMR S731, Paris, France
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  • Emmanuel Roze MD,

    1. Université Pierre et Marie Curie-Paris 6, UMR S731, Paris, France
    2. Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France
    3. CNRS UMR 7102, Paris, France
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  • Emmanuelle Apartis MD, PhD,

    1. Université Pierre et Marie Curie-Paris 6, UMR S731, Paris, France
    2. Department of Physiology, Saint-Antoine Hospital, Paris, France
    3. INSERM U 732, Paris, France
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  • Jean-Marc Trocello MD,

    1. Department of Neurology, Lariboisière Hospital, Paris, France
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  • Marie Vidailhet MD

    Corresponding author
    1. Université Pierre et Marie Curie-Paris 6, UMR S731, Paris, France
    2. Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France
    3. INSERM U679, Paris, France
    • Department of Neurology, Groupe Hospitalier, Pitié-Salpêtrière, 75 Boulevard de l'Hôpital, Paris 75013, France

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Abstract

Myoclonus-dystonia (M-D) is an autosomal dominant movement disorder caused by mutations in the ε-sarcoglycan gene (DYT11). We explore pathophysiological characteristics of M-D with the hypothesis that they may be different from those of sporadic or genetic dystonia. We compared five carriers of the DYT11 gene mutation and 10 healthy controls. Using transcranial magnetic stimulation, we measured parameters assessing cortical membrane excitability (active motor threshold, aMT) and synaptic activity (short interval, sICI) and afferent (AI) intracortical inhibitions and their interaction. aMT was significantly higher in the DYT11 gene carriers than in normal subjects. The others parameters (sICI, AI and their interaction) were not different between the two groups. In DYT11 gene carriers cortical membrane excitability was impaired while parameters assessing cortical synaptic activity were normal. Opposite results have been obtained in focal sporadic and generalized DYT1 dystonias. © 2008 Movement Disorder Society

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