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  • Title: Cortical excitability in DYT-11 positive myoclonus dystonia.
    Author: Sabine MeunierINSERM, U731, Paris, France., George Lourenco, Roze E, Apartis E, Trocello JM, Marie Vidailhet.
    Journal: Mov Disord; 2008 Apr 15; 23(5):761-4. PubMed ID: 18265016.
    Abstract:
    Myoclonus-dystonia (M-D) is an autosomal dominant movement disorder caused by mutations in the epsilon-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.
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