Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances.
Identifieur interne : 000F92 ( Ncbi/Merge ); précédent : 000F91; suivant : 000F93Dystonia 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
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 003296
- to stream PubMed, to step Curation: 003296
- to stream PubMed, to step Checkpoint: 003479
Links to Exploration step
pubmed:15390009Le document en format XML
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<affiliation wicri:level="3"><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="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="Bauer, Matthias F" sort="Bauer, Matthias F" uniqKey="Bauer M" first="Matthias F" last="Bauer">Matthias F. Bauer</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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<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>
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<term>Genetic Diseases, X-Linked</term>
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<term>Genetic Diseases, X-Linked</term>
<term>Mutation, Missense</term>
<term>Point Mutation</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>
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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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