MovDisordV3, Main, Merge, bibRecord, 005A27

Deep brain stimulation in myoclonus-dystonia syndrome

Identifieur interne : 005A27 ( Main/Merge ); précédent : 005A26; suivant : 005A28

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.

RBID : Pascal:04-0415281

Descripteurs français

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

English descriptors

KwdEn :
- Dystonia, Myoclonus, Nervous system diseases.

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 e-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.

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

to stream PascalFrancis, to step Corpus: 002144
to stream PascalFrancis, to step Curation: 000B77
to stream PascalFrancis, to step Checkpoint: 002189

Links to Exploration step

Pascal:04-0415281

Le document en format XML

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<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="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>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute</s1>
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<author><name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurosurgery (Research Group on Movement Disorders in Children) Gui de Chauliac University Hospital</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
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<country>France</country>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Deep brain stimulation in myoclonus-dystonia syndrome</title>
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<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute</s1>
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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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<s2>Montpellier</s2>
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<author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Medical Genetics Arnaud de Villeneuve, University Hospital</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
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</inist:fA14>
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<placeName><settlement type="city">Montpellier</settlement>
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<author><name sortKey="Vayssiere, Nathalie" sort="Vayssiere, Nathalie" uniqKey="Vayssiere N" first="Nathalie" last="Vayssiere">Nathalie Vayssiere</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurosurgery (Research Group on Movement Disorders in Children) Gui de Chauliac University Hospital</s1>
<s2>Montpellier</s2>
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<placeName><settlement type="city">Montpellier</settlement>
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</affiliation>
</author>
<author><name sortKey="Serrat, Stephanie" sort="Serrat, Stephanie" uniqKey="Serrat S" first="Stéphanie" last="Serrat">Stéphanie Serrat</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurosurgery (Research Group on Movement Disorders in Children) Gui de Chauliac University Hospital</s1>
<s2>Montpellier</s2>
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<sZ>5 aut.</sZ>
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<placeName><settlement type="city">Montpellier</settlement>
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</author>
<author><name sortKey="Di Giorgio, Annalisa" sort="Di Giorgio, Annalisa" uniqKey="Di Giorgio A" first="Annalisa" last="Di Giorgio">Annalisa Di Giorgio</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute</s1>
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<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
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</affiliation>
</author>
<author><name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurosurgery (Research Group on Movement Disorders in Children) Gui de Chauliac University Hospital</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
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<sZ>3 aut.</sZ>
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<sZ>6 aut.</sZ>
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<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
<term>Myoclonus</term>
<term>Nervous system diseases</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 e-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>
<affiliations><list><country><li>France</li>
<li>Italie</li>
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<region><li>Latium</li>
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<settlement><li>Montpellier</li>
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<tree><country name="France"><noRegion><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name>
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<name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name>
<name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name>
<name sortKey="Hemm, Simone" sort="Hemm, Simone" uniqKey="Hemm S" first="Simone" last="Hemm">Simone Hemm</name>
<name sortKey="Serrat, Stephanie" sort="Serrat, Stephanie" uniqKey="Serrat S" first="Stéphanie" last="Serrat">Stéphanie Serrat</name>
<name sortKey="Vayssiere, Nathalie" sort="Vayssiere, Nathalie" uniqKey="Vayssiere N" first="Nathalie" last="Vayssiere">Nathalie Vayssiere</name>
</country>
<country name="Italie"><region name="Latium"><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
</region>
<name sortKey="Di Giorgio, Annalisa" sort="Di Giorgio, Annalisa" uniqKey="Di Giorgio A" first="Annalisa" last="Di Giorgio">Annalisa Di Giorgio</name>
</country>
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</record>

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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 :

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