White matter abnormalities in gene-positive myoclonus-dystonia§

Authors

  • Johan N. van der Meer MSc,

    1. Academic Medical Center, University of Amsterdam, Department of Clinical Neurophysiology, Amsterdam, The Netherlands
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    • Johan N. van der Meer and Richard J. Beukers contributed equally to this article.

  • Richard J. Beukers MD,

    1. Academic Medical Center, University of Amsterdam, Department of Neurology, Amsterdam, The Netherlands
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    • Johan N. van der Meer and Richard J. Beukers contributed equally to this article.

  • S.M.A. van der Salm MD,

    1. Academic Medical Center, University of Amsterdam, Department of Neurology, Amsterdam, The Netherlands
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  • Matthan W.A. Caan PhD,

    1. Academic Medical Center, University of Amsterdam, Department of Radiology, Amsterdam, The Netherlands
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  • Marina A.J. Tijssen MD, PhD,

    Corresponding author
    1. Academic Medical Center, University of Amsterdam, Department of Neurology, Amsterdam, The Netherlands
    2. University Medical Centre Groningen (UMCG), Department of Neurology, Groningen, The Netherlands
    • Movement Disorders, Department of Neurology AB 51, University medical Centre Groningen,(UMCG) PO Box 30.001, 9700 RB Groningen the Netherlands
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  • Aart J. Nederveen PhD

    1. Academic Medical Center, University of Amsterdam, Department of Radiology, Amsterdam, The Netherlands
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  • Funding agencies: This study was supported by the following research grants: NWO-VIDI grant (project 016.056.333, to M.A.J.T.); ONWA grant for MRI imaging costs (ABIP-2007-09).

  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • §

    Full financial disclosures and author roles may be found in the online version of this article.

Abstract

Myoclonus-dystonia is an autosomal dominantly inherited movement disorder clinically characterized by myoclonic jerks and dystonic movements of the upper body. Functional imaging and structural gray matter imaging studies in M-D suggest defective sensorimotor integration and an association between putaminal volume and severity of dystonia, possibly because of neuronal plasticity. As we expect changes in the connections between the cortical and subcortical regions, we performed a combination of white matter voxel-based morphometry (wVBM) and diffusion tensor imaging (DTI) to detect macro- and microstructural white matter changes, respectively, in DYT-11 mutations carriers (M-D). Sixteen clinically affected DYT-11 mutation carriers and 18 control subjects were scanned with 3-Tesla MRI to compare white matter volume, fractional anisotropy, and mean diffusivity between groups. In DYT11 mutation carriers, increased white matter volume and FA and decreased mean diffusivity werefound in the subthalamic area of the brain stem, including the red nucleus. Furthermore, decreased mean diffusivity was found in the subgyral cortical sensorimotor areas. The white matter changes found in the subthalamic area of the brain stem, connecting the cerebellum with the thalamus, are compatible with the hypothesis that abnormal function in M-D involves a network that includes the cerebellum, brain stem, and basal ganglia. Whether these changes are causative or an effect of M-D requires further study. © 2012 Movement Disorder Society

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