White matter abnormalities in gene-positive myoclonus-dystonia.
Identifieur interne : 000B51 ( Main/Exploration ); précédent : 000B50; suivant : 000B52White matter abnormalities in gene-positive myoclonus-dystonia.
Auteurs : Johan N. Van Der Meer [Pays-Bas] ; Richard J. Beukers ; S M A. Van Der Salm ; Matthan W A. Caan ; Marina A J. Tijssen ; Aart J. NederveenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- MESH :
- complications : Dystonic Disorders.
- etiology : Leukoencephalopathies.
- genetics : Dystonic Disorders.
- pathology : Brain, Nerve Fibers, Myelinated.
- Adolescent, Adult, Aged, Anisotropy, Diffusion Tensor Imaging, Female, Humans, Imaging, Three-Dimensional, Male, Middle Aged, Young Adult.
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 were found 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.
DOI: 10.1002/mds.25128
PubMed: 23114862
Affiliations:
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Beukers</name></author><author><name sortKey="Van Der Salm, S M A" sort="Van Der Salm, S M A" uniqKey="Van Der Salm S" first="S M A" last="Van Der Salm">S M A. Van Der Salm</name></author><author><name sortKey="Caan, Matthan W A" sort="Caan, Matthan W A" uniqKey="Caan M" first="Matthan W A" last="Caan">Matthan W A. Caan</name></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name></author><author><name sortKey="Nederveen, Aart J" sort="Nederveen, Aart J" uniqKey="Nederveen A" first="Aart J" last="Nederveen">Aart J. Nederveen</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25128</idno><idno type="RBID">pubmed:23114862</idno><idno type="pmid">23114862</idno><idno type="wicri:Area/PubMed/Corpus">000C00</idno><idno type="wicri:Area/PubMed/Curation">000C00</idno><idno type="wicri:Area/PubMed/Checkpoint">000B58</idno><idno type="wicri:Area/Ncbi/Merge">003862</idno><idno type="wicri:Area/Ncbi/Curation">003862</idno><idno type="wicri:Area/Ncbi/Checkpoint">003862</idno><idno type="wicri:Area/Main/Merge">000B52</idno><idno type="wicri:Area/Main/Curation">000B51</idno><idno type="wicri:Area/Main/Exploration">000B51</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">White matter abnormalities in gene-positive myoclonus-dystonia.</title><author><name sortKey="Van Der Meer, Johan N" sort="Van Der Meer, Johan N" uniqKey="Van Der Meer J" first="Johan N" last="Van Der Meer">Johan N. Van Der Meer</name><affiliation wicri:level="3"><nlm:affiliation>Academic Medical Center, University of Amsterdam, Department of Clinical Neurophysiology, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Academic Medical Center, University of Amsterdam, Department of Clinical Neurophysiology, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Beukers, Richard J" sort="Beukers, Richard J" uniqKey="Beukers R" first="Richard J" last="Beukers">Richard J. Beukers</name></author><author><name sortKey="Van Der Salm, S M A" sort="Van Der Salm, S M A" uniqKey="Van Der Salm S" first="S M A" last="Van Der Salm">S M A. Van Der Salm</name></author><author><name sortKey="Caan, Matthan W A" sort="Caan, Matthan W A" uniqKey="Caan M" first="Matthan W A" last="Caan">Matthan W A. Caan</name></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name></author><author><name sortKey="Nederveen, Aart J" sort="Nederveen, Aart J" uniqKey="Nederveen A" first="Aart J" last="Nederveen">Aart J. Nederveen</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Anisotropy</term><term>Brain (pathology)</term><term>Diffusion Tensor Imaging</term><term>Dystonic Disorders (complications)</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Humans</term><term>Imaging, Three-Dimensional</term><term>Leukoencephalopathies (etiology)</term><term>Male</term><term>Middle Aged</term><term>Nerve Fibers, Myelinated (pathology)</term><term>Young Adult</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Leukoencephalopathies</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Nerve Fibers, Myelinated</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Anisotropy</term><term>Diffusion Tensor Imaging</term><term>Female</term><term>Humans</term><term>Imaging, Three-Dimensional</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 were found 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.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li></settlement></list><tree><noCountry><name sortKey="Beukers, Richard J" sort="Beukers, Richard J" uniqKey="Beukers R" first="Richard J" last="Beukers">Richard J. Beukers</name><name sortKey="Caan, Matthan W A" sort="Caan, Matthan W A" uniqKey="Caan M" first="Matthan W A" last="Caan">Matthan W A. Caan</name><name sortKey="Nederveen, Aart J" sort="Nederveen, Aart J" uniqKey="Nederveen A" first="Aart J" last="Nederveen">Aart J. Nederveen</name><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name><name sortKey="Van Der Salm, S M A" sort="Van Der Salm, S M A" uniqKey="Van Der Salm S" first="S M A" last="Van Der Salm">S M A. Van Der Salm</name></noCountry><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Van Der Meer, Johan N" sort="Van Der Meer, Johan N" uniqKey="Van Der Meer J" first="Johan N" last="Van Der Meer">Johan N. Van Der Meer</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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