Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances.
Identifieur interne : 003296 ( PubMed/Curation ); précédent : 003295; suivant : 003297Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances.
Auteurs : Stefan H. Kreisel [Allemagne] ; Johannes Binder ; Johannes C. Wöhrle ; Joachim K. Krauss ; Sabine Hofmann ; Matthias F. Bauer ; Michael G. Hennerici ; Hansjörg B ZnerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- Adult, Clonazepam (therapeutic use), Cognition Disorders (complications), Dystonic Disorders (drug therapy), Dystonic Disorders (genetics), GABA Modulators (therapeutic use), Genetic Diseases, X-Linked (drug therapy), Genetic Diseases, X-Linked (genetics), Hearing Loss, Sensorineural (complications), Humans, Male, Membrane Transport Proteins (genetics), Mental Disorders (complications), Mutation, Missense (genetics), Myoclonus (complications), Point Mutation (genetics), Syndrome.
- MESH :
- chemical , genetics : Membrane Transport Proteins.
- chemical , therapeutic use : Clonazepam, GABA Modulators.
- complications : Cognition Disorders, Hearing Loss, Sensorineural, Mental Disorders, Myoclonus.
- drug therapy : Dystonic Disorders, Genetic Diseases, X-Linked.
- genetics : Dystonic Disorders, Genetic Diseases, X-Linked, Mutation, Missense, Point Mutation.
- Adult, Humans, Male, Syndrome.
Abstract
Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness associated with dystonia. In the patient presented here, improvement of dystonic symptoms upon treatment with alcohol and GABAergic substances is demonstrated for the first time.
DOI: 10.1002/mds.20150
PubMed: 15390009
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Wöhrle</name></author><author><name sortKey="Krauss, Joachim K" sort="Krauss, Joachim K" uniqKey="Krauss J" first="Joachim K" last="Krauss">Joachim K. Krauss</name></author><author><name sortKey="Hofmann, Sabine" sort="Hofmann, Sabine" uniqKey="Hofmann S" first="Sabine" last="Hofmann">Sabine Hofmann</name></author><author><name sortKey="Bauer, Matthias F" sort="Bauer, Matthias F" uniqKey="Bauer M" first="Matthias F" last="Bauer">Matthias F. Bauer</name></author><author><name sortKey="Hennerici, Michael G" sort="Hennerici, Michael G" uniqKey="Hennerici M" first="Michael G" last="Hennerici">Michael G. Hennerici</name></author><author><name sortKey="B Zner, Hansjorg" sort="B Zner, Hansjorg" uniqKey="B Zner H" first="Hansjörg" last="B Zner">Hansjörg B Zner</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2004">2004</date><idno type="RBID">pubmed:15390009</idno><idno type="pmid">15390009</idno><idno type="doi">10.1002/mds.20150</idno><idno type="wicri:Area/PubMed/Corpus">003296</idno><idno type="wicri:Area/PubMed/Curation">003296</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances.</title><author><name sortKey="Kreisel, Stefan H" sort="Kreisel, Stefan H" uniqKey="Kreisel S" first="Stefan H" last="Kreisel">Stefan H. Kreisel</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Universitätsklinikum Mannheim, University of Heidelberg, Mannheim, Germany. shkreisel@neuro.ma.uni-heidelberg.de</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Universitätsklinikum Mannheim, University of Heidelberg, Mannheim</wicri:regionArea></affiliation></author><author><name sortKey="Binder, Johannes" sort="Binder, Johannes" uniqKey="Binder J" first="Johannes" last="Binder">Johannes Binder</name></author><author><name sortKey="Wohrle, Johannes C" sort="Wohrle, Johannes C" uniqKey="Wohrle J" first="Johannes C" last="Wöhrle">Johannes C. Wöhrle</name></author><author><name sortKey="Krauss, Joachim K" sort="Krauss, Joachim K" uniqKey="Krauss J" first="Joachim K" last="Krauss">Joachim K. Krauss</name></author><author><name sortKey="Hofmann, Sabine" sort="Hofmann, Sabine" uniqKey="Hofmann S" first="Sabine" last="Hofmann">Sabine Hofmann</name></author><author><name sortKey="Bauer, Matthias F" sort="Bauer, Matthias F" uniqKey="Bauer M" first="Matthias F" last="Bauer">Matthias F. Bauer</name></author><author><name sortKey="Hennerici, Michael G" sort="Hennerici, Michael G" uniqKey="Hennerici M" first="Michael G" last="Hennerici">Michael G. Hennerici</name></author><author><name sortKey="B Zner, Hansjorg" sort="B Zner, Hansjorg" uniqKey="B Zner H" first="Hansjörg" last="B Zner">Hansjörg B Zner</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2004" type="published">2004</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Clonazepam (therapeutic use)</term><term>Cognition Disorders (complications)</term><term>Dystonic Disorders (drug therapy)</term><term>Dystonic Disorders (genetics)</term><term>GABA Modulators (therapeutic use)</term><term>Genetic Diseases, X-Linked (drug therapy)</term><term>Genetic Diseases, X-Linked (genetics)</term><term>Hearing Loss, Sensorineural (complications)</term><term>Humans</term><term>Male</term><term>Membrane Transport Proteins (genetics)</term><term>Mental Disorders (complications)</term><term>Mutation, Missense (genetics)</term><term>Myoclonus (complications)</term><term>Point Mutation (genetics)</term><term>Syndrome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Transport Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Clonazepam</term><term>GABA Modulators</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cognition Disorders</term><term>Hearing Loss, Sensorineural</term><term>Mental Disorders</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonic Disorders</term><term>Genetic Diseases, X-Linked</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Genetic Diseases, X-Linked</term><term>Mutation, Missense</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Humans</term><term>Male</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness associated with dystonia. In the patient presented here, improvement of dystonic symptoms upon treatment with alcohol and GABAergic substances is demonstrated for the first time.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">15390009</PMID><DateCreated><Year>2004</Year><Month>10</Month><Day>06</Day></DateCreated><DateCompleted><Year>2005</Year><Month>02</Month><Day>14</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>19</Volume><Issue>10</Issue><PubDate><Year>2004</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D026901">Membrane Transport Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001523">Mental Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020125">Mutation, Missense</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009207">Myoclonus</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" 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