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  • Title: Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study.
    Author: Beukers RJ, Foncke EM, van der Meer JN, Nederveen AJ, de Ruiter MB, Bour LJ, Veltman DJ, Tijssen MA.
    Journal: Arch Neurol; 2010 Apr; 67(4):469-74. PubMed ID: 20385914.
    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.
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