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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pubmed:15390009Le document en format XML
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<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>
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<author><name sortKey="Binder, Johannes" sort="Binder, Johannes" uniqKey="Binder J" first="Johannes" last="Binder">Johannes Binder</name>
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<author><name sortKey="Wohrle, Johannes C" sort="Wohrle, Johannes C" uniqKey="Wohrle J" first="Johannes C" last="Wöhrle">Johannes C. Wöhrle</name>
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<author><name sortKey="Hennerici, Michael G" sort="Hennerici, Michael G" uniqKey="Hennerici M" first="Michael G" last="Hennerici">Michael G. Hennerici</name>
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<author><name sortKey="B Zner, Hansjorg" sort="B Zner, Hansjorg" uniqKey="B Zner H" first="Hansjörg" last="B Zner">Hansjörg B Zner</name>
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<term>Dystonic Disorders (genetics)</term>
<term>GABA Modulators (therapeutic use)</term>
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<term>Genetic Diseases, X-Linked</term>
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<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>
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<Abstract><AbstractText>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.</AbstractText>
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