MovDisordV3, PubMed, Corpus, bibRecord, 003427

Deep brain stimulation in myoclonus-dystonia syndrome.

Identifieur interne : 003427 ( PubMed/Corpus ); précédent : 003426; suivant : 003428

Deep brain stimulation in myoclonus-dystonia syndrome.

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

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.

RBID : pubmed:15197720

English descriptors

KwdEn :
- Anticonvulsants (therapeutic use), Child, Combined Modality Therapy, DNA Primers (genetics), 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), Pedigree, Polymerase Chain Reaction, Severity of Illness Index, Trinucleotide Repeats (genetics).
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 epsilon-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.

DOI: 10.1002/mds.20030
PubMed: 15197720

Links to Exploration step

pubmed:15197720

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>
<affiliation><nlm:affiliation>Department of Neurosurgery, Research Group on Movement Disorders in Children, Gui de Chauliac University Hospital, Montpellier, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
</author>
<author><name sortKey="Hemm, Simone" sort="Hemm, Simone" uniqKey="Hemm S" first="Simone" last="Hemm">Simone Hemm</name>
</author>
<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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<author><name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name>
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<author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name>
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<author><name sortKey="Vayssiere, Nathalie" sort="Vayssiere, Nathalie" uniqKey="Vayssiere N" first="Nathalie" last="Vayssiere">Nathalie Vayssiere</name>
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<term>Child</term>
<term>Combined Modality Therapy</term>
<term>DNA Primers (genetics)</term>
<term>Dystonic Disorders (diagnosis)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Dystonic Disorders (therapy)</term>
<term>Electric Stimulation (instrumentation)</term>
<term>Epilepsies, Myoclonic (diagnosis)</term>
<term>Epilepsies, Myoclonic (genetics)</term>
<term>Epilepsies, Myoclonic (therapy)</term>
<term>Gene Deletion</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Molecular Chaperones (genetics)</term>
<term>Pedigree</term>
<term>Polymerase Chain Reaction</term>
<term>Severity of Illness Index</term>
<term>Trinucleotide Repeats (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term>
<term>Molecular Chaperones</term>
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<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Anticonvulsants</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term>
<term>Epilepsies, Myoclonic</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Epilepsies, Myoclonic</term>
<term>Trinucleotide Repeats</term>
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<keywords scheme="MESH" qualifier="instrumentation" xml:lang="en"><term>Electric Stimulation</term>
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<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Dystonic Disorders</term>
<term>Epilepsies, Myoclonic</term>
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<term>Combined Modality Therapy</term>
<term>Gene Deletion</term>
<term>Genotype</term>
<term>Humans</term>
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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 epsilon-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.</div>
</front>
</TEI>
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<Abstract><AbstractText>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 epsilon-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.</AbstractText>
<CopyrightInformation>Copyright 2004 Movement Disorder Society</CopyrightInformation>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Deep brain stimulation in myoclonus-dystonia syndrome.

Deep brain stimulation in myoclonus-dystonia syndrome.

Source :

English descriptors

Abstract

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

Pour générer des pages wiki