Disorganized Sensorimotor Integration in Mutation-Positive Myoclonus-Dystonia: A Functional Magnetic Resonance Imaging Study

Richard J. Beukers*, Elisabeth M. J. Foncke, Johan N. van der Meer, Aart J. Nederveen, Michiel B. de Ruiter, Lo J. Bour, Dick J. Veltman, Marina A. J. Tijssen

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    25 Citations (Scopus)

    Abstract

    Background: Myoclonus-dystonia is an autosomal dominantly inherited movement disorder clinically characterized by myoclonic jerks and dystonic postures or movements of the upper body. Functional imaging studies in other, mainly heterogeneous groups of dystonia do agree on dysfunction of the striato-pallido-thalamo-cortical circuit.

    Objective: To study cerebral activation patterns with functional magnetic resonance imaging in a genetically defined homogeneous group of patients with dystonia.

    Design, Setting, and Patients: Thirteen clinically affected SGCE mutation carriers and 11 control subjects were studied in a case-control study.

    Intervention: A finger-tapping motor task was performed in a block design using 3.0-T magnetic resonance imaging.

    Main Outcome Measures: Blood oxygenation level-dependent signals were compared between groups.

    Results: In SGCE mutation carriers, we observed significant hyperresponsiveness in contralateral inferior parietal cortical areas, ipsilateral premotor and primary somatosensory cortex, and ipsilateral cerebellum during the motor task compared with healthy control subjects.

    Conclusions: The cortical activation patterns in SGCE mutation carriers during this motor task point to a disorganized sensorimotor integration in this uniform group of patients with dystonia and are consistent with functional neuroimaging studies in other types of (hereditary) dystonia.

    Original languageEnglish
    Pages (from-to)469-474
    Number of pages6
    JournalArchives of Neurology
    Volume67
    Issue number4
    DOIs
    Publication statusPublished - Apr-2010

    Keywords

    • FOCAL HAND DYSTONIA
    • WRITERS CRAMP
    • EPSILON-SARCOGLYCAN
    • ACTIVATION PATTERNS
    • TORSION DYSTONIA
    • RECEPTOR-BINDING
    • RATING-SCALE
    • MOTOR
    • MOVEMENT
    • AREAS

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