MovDisordV3, France, Analysis, bibRecord, 000437

Deep brain stimulation in myoclonus–dystonia syndrome

Identifieur interne : 000437 ( France/Analysis ); précédent : 000436; suivant : 000438

Deep brain stimulation in myoclonus–dystonia syndrome

Auteurs : Laura Cif [France] ; Enza Maria Valente [Italie] ; Simone Hemm [France] ; Christine Coubes [France] ; Nathalie Vayssiere [France] ; Stéphanie Serrat [France] ; Annalisa Di Giorgio [Italie] ; Philippe Coubes [France]

Source :

Movement Disorders [ 0885-3185 ] ; 2004-06.

RBID : ISTEX:FA75587260E9851A6C0501E70F3032F68E85FC79

Descripteurs français

Pascal (Inist)
- Dystonie, Myoclonie, Système nerveux pathologie.

English descriptors

KwdEn :
- Anticonvulsants (therapeutic use), Child, Combined Modality Therapy, DNA Primers (genetics), Dystonia, Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Dystonic Disorders (therapy), Electric Stimulation (instrumentation), Epilepsies, Myoclonic (diagnosis), Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (therapy), Gene Deletion, Genotype, Humans, Male, Molecular Chaperones (genetics), Myoclonus, Nervous system diseases, Pedigree, Polymerase Chain Reaction, Severity of Illness Index, Trinucleotide Repeats (genetics), dystonia, myoclonus, neurosurgery.
MESH :
- chemical , genetics : DNA Primers, Molecular Chaperones.
- chemical , therapeutic use : Anticonvulsants.
- diagnosis : Dystonic Disorders, Epilepsies, Myoclonic.
- genetics : Dystonic Disorders, Epilepsies, Myoclonic, Trinucleotide Repeats.
- instrumentation : Electric Stimulation.
- therapy : Dystonic Disorders, Epilepsies, Myoclonic.
- Child, Combined Modality Therapy, Gene Deletion, Genotype, Humans, Male, Pedigree, Polymerase Chain Reaction, Severity of Illness Index.

Abstract

Myoclonus–dystonia syndrome (MDS) is an autosomal dominant disorder characterized by bilateral myoclonic jerks. An 8‐year‐old boy presenting with early onset, medically intractable, MDS due to a mutation in the ϵ‐sarcoglycan gene (SGCE) underwent chronic bilateral stimulation of the globus pallidus internus, which eliminates both myoclonus and dystonia. We conclude that deep brain stimulation can be an effective and safe treatment for MDS. © 2004 Movement Disorder Society

Url:

https://api.istex.fr/document/FA75587260E9851A6C0501E70F3032F68E85FC79/fulltext/pdf

DOI: 10.1002/mds.20030

Affiliations:

Links to Exploration step

ISTEX:FA75587260E9851A6C0501E70F3032F68E85FC79

Le document en format XML

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<author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name>
</author>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
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<author><name sortKey="Hemm, Simone" sort="Hemm, Simone" uniqKey="Hemm S" first="Simone" last="Hemm">Simone Hemm</name>
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<author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name>
</author>
<author><name sortKey="Vayssiere, Nathalie" sort="Vayssiere, Nathalie" uniqKey="Vayssiere N" first="Nathalie" last="Vayssiere">Nathalie Vayssiere</name>
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<author><name sortKey="Serrat, Stephanie" sort="Serrat, Stephanie" uniqKey="Serrat S" first="Stéphanie" last="Serrat">Stéphanie Serrat</name>
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<author><name sortKey="Di Giorgio, Annalisa" sort="Di Giorgio, Annalisa" uniqKey="Di Giorgio A" first="Annalisa" last="Di Giorgio">Annalisa Di Giorgio</name>
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<front><div type="abstract" xml:lang="en">Myoclonus–dystonia syndrome (MDS) is an autosomal dominant disorder characterized by bilateral myoclonic jerks. An 8‐year‐old boy presenting with early onset, medically intractable, MDS due to a mutation in the ϵ‐sarcoglycan gene (SGCE) underwent chronic bilateral stimulation of the globus pallidus internus, which eliminates both myoclonus and dystonia. We conclude that deep brain stimulation can be an effective and safe treatment for MDS. © 2004 Movement Disorder Society</div>
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Movement Disorders (revue)

Deep brain stimulation in myoclonus–dystonia syndrome

Deep brain stimulation in myoclonus–dystonia syndrome

Source :

Descripteurs français

English descriptors

Abstract

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

Links to Exploration step

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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