MovDisordV3, Main, Exploration, bibRecord, 003D33

Dystonia in the Mohr–Tranebjaerg syndrome responds to GABAergic substances

Identifieur interne : 003D33 ( Main/Exploration ); précédent : 003D32; suivant : 003D34

Dystonia in the Mohr–Tranebjaerg syndrome responds to GABAergic substances

Auteurs : Stefan H. Kreisel [Allemagne] ; Johannes Binder [Allemagne] ; Johannes C. Wöhrle [Allemagne] ; Joachim K. Krauss [Allemagne] ; Sabine Hofmann [Allemagne] ; Matthias F. Bauer [Allemagne] ; Michael G. Hennerici [Allemagne] ; Hansjörg B Zner [Allemagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2004-10.

RBID : ISTEX:BA4B9861FB65E646C201E782C1EF7DA9ECD9BCCC

Descripteurs français

Pascal (Inist)
- Contrôle moteur, Dystonie, Mohr syndrome, Système nerveux pathologie.

English descriptors

KwdEn :
- Adult, Clonazepam (therapeutic use), Cognition Disorders (complications), Dystonia, Dystonic Disorders (drug therapy), Dystonic Disorders (genetics), GABA Modulators (therapeutic use), GABAergic substances, Genetic Diseases, X-Linked (drug therapy), Genetic Diseases, X-Linked (genetics), Hearing Loss, Sensorineural (complications), Humans, Male, Membrane Transport Proteins (genetics), Mental Disorders (complications), Mohr syndrome, Mohr–Tranebjaerg syndrome, Motor control, Mutation, Missense (genetics), Myoclonus (complications), Nervous system diseases, Point Mutation (genetics), Syndrome, deafness–dystonia 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. © 2004 Movement Disorder Society

Url:

https://api.istex.fr/document/BA4B9861FB65E646C201E782C1EF7DA9ECD9BCCC/fulltext/pdf

DOI: 10.1002/mds.20150

Affiliations:

Le document en format XML

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<term>Dystonic Disorders (drug therapy)</term>
<term>Dystonic Disorders (genetics)</term>
<term>GABA Modulators (therapeutic use)</term>
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<term>Genetic Diseases, X-Linked (drug therapy)</term>
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<term>Hearing Loss, Sensorineural (complications)</term>
<term>Humans</term>
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<term>Membrane Transport Proteins (genetics)</term>
<term>Mental Disorders (complications)</term>
<term>Mohr syndrome</term>
<term>Mohr–Tranebjaerg syndrome</term>
<term>Motor control</term>
<term>Mutation, Missense (genetics)</term>
<term>Myoclonus (complications)</term>
<term>Nervous system diseases</term>
<term>Point Mutation (genetics)</term>
<term>Syndrome</term>
<term>deafness–dystonia syndrome</term>
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<term>Mental Disorders</term>
<term>Myoclonus</term>
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<term>Genetic Diseases, X-Linked</term>
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<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>
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<term>Humans</term>
<term>Male</term>
<term>Syndrome</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. © 2004 Movement Disorder Society</div>
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<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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<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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<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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Movement Disorders (revue)

Dystonia in the Mohr–Tranebjaerg syndrome responds to GABAergic substances

Dystonia in the Mohr–Tranebjaerg syndrome responds to GABAergic substances

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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