{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:54:29Z","timestamp":1791280469660,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2012,10,31]],"date-time":"2012-10-31T00:00:00Z","timestamp":1351641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Myoclonus\u2010dystonia 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\u2010D 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\u2010based morphometry (wVBM) and diffusion tensor imaging (DTI) to detect macro\u2010 and microstructural white matter changes, respectively, in <jats:italic>DYT\u201011<\/jats:italic> mutations carriers (M\u2010D). Sixteen clinically affected <jats:italic>DYT\u201011<\/jats:italic> mutation carriers and 18 control subjects were scanned with 3\u2010Tesla MRI to compare white matter volume, fractional anisotropy, and mean diffusivity between groups. In <jats:italic>DYT11<\/jats:italic> 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\u2010D involves a network that includes the cerebellum, brain stem, and basal ganglia. Whether these changes are causative or an effect of M\u2010D requires further study. \u00a9 2012 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.25128","type":"journal-article","created":{"date-parts":[[2012,10,31]],"date-time":"2012-10-31T20:46:41Z","timestamp":1351716401000},"page":"1666-1672","source":"Crossref","is-referenced-by-count":44,"title":["White matter abnormalities in gene\u2010positive myoclonus\u2010dystonia"],"prefix":"10.1002","volume":"27","author":[{"given":"Johan N.","family":"van der Meer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Beukers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.M.A.","family":"van der Salm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthan 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