MovDisordV3, PascalFrancis, Curation, bibRecord, 000B77

Deep brain stimulation in myoclonus-dystonia syndrome

Identifieur interne : 000B77 ( PascalFrancis/Curation ); précédent : 000B76; suivant : 000B78

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.

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A03		`1`		`@0 Mov. disord.`
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A06				`@2 6`
A08	`01`	`1`	`ENG`	`@1 Deep brain stimulation in myoclonus-dystonia syndrome`
A11	`01`	`1`		`@1 CIF (Laura)`
A11	`02`	`1`		`@1 VALENTE (Enza Maria)`
A11	`03`	`1`		`@1 HEMM (Simone)`
A11	`04`	`1`		`@1 COUBES (Christine)`
A11	`05`	`1`		`@1 VAYSSIERE (Nathalie)`
A11	`06`	`1`		`@1 SERRAT (Stéphanie)`
A11	`07`	`1`		`@1 DI GIORGIO (Annalisa)`
A11	`08`	`1`		`@1 COUBES (Philippe)`
A14	`01`			`@1 Department of Neurosurgery (Research Group on Movement Disorders in Children) Gui de Chauliac University Hospital @2 Montpellier @3 FRA @Z 1 aut. @Z 3 aut. @Z 5 aut. @Z 6 aut. @Z 8 aut.`
A14	`02`			`@1 IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute @2 Rome @3 ITA @Z 2 aut. @Z 7 aut.`
A14	`03`			`@1 Department of Medical Genetics Arnaud de Villeneuve, University Hospital @2 Montpellier @3 FRA @Z 4 aut.`
A20				`@1 724-727`
A21				`@1 2004`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000113781310230`
A44				`@0 0000 @1 © 2004 INIST-CNRS. All rights reserved.`
A45				`@0 29 ref.`
A47	`01`	`1`		`@0 04-0415281`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	`@0 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.`
C02	`01`	`X`		`@0 002B17`
C03	`01`	`X`	`FRE`	`@0 Myoclonie @5 01`
C03	`01`	`X`	`ENG`	`@0 Myoclonus @5 01`
C03	`01`	`X`	`SPA`	`@0 Mioclonia @5 01`
C03	`02`	`X`	`FRE`	`@0 Dystonie @5 04`
C03	`02`	`X`	`ENG`	`@0 Dystonia @5 04`
C03	`02`	`X`	`SPA`	`@0 Distonía @5 04`
C03	`03`	`X`	`FRE`	`@0 Système nerveux pathologie @5 07`
C03	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 07`
C03	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 07`
C07	`01`	`X`	`FRE`	`@0 Encéphale pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Système nerveux central @5 38`
C07	`02`	`X`	`ENG`	`@0 Central nervous system @5 38`
C07	`02`	`X`	`SPA`	`@0 Sistema nervioso central @5 38`
C07	`03`	`X`	`FRE`	`@0 Mouvement involontaire @5 39`
C07	`03`	`X`	`ENG`	`@0 Involuntary movement @5 39`
C07	`03`	`X`	`SPA`	`@0 Movimiento involuntario @5 39`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 40`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 40`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 40`
C07	`05`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 41`
C07	`05`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 41`
C07	`05`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 41`
C07	`06`	`X`	`FRE`	`@0 Muscle strié pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Striated muscle disease @5 42`
C07	`06`	`X`	`SPA`	`@0 Músculo estriado patología @5 42`
C07	`07`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 43`
C07	`07`	`X`	`ENG`	`@0 Central nervous system disease @5 43`
C07	`07`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 43`
N21				`@1 236`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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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>
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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="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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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Deep brain stimulation in myoclonus-dystonia syndrome</title>
<author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</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>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
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<country>France</country>
</affiliation>
</author>
<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="1"><inist:fA14 i1="02"><s1>IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
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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>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</author>
<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>
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<s3>FRA</s3>
<sZ>4 aut.</sZ>
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</affiliation>
</author>
<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>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
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<country>France</country>
</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>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</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="1"><inist:fA14 i1="02"><s1>IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
</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>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
<term>Myoclonus</term>
<term>Nervous system diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Myoclonie</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>
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<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>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
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<fA14 i1="03"><s1>Department of Medical Genetics Arnaud de Villeneuve, University Hospital</s1>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
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<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>43</s5>
</fC07>
<fN21><s1>236</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</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

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Abstract

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