MovDisordV3, PascalFrancis, Corpus, bibRecord, 002144

Deep brain stimulation in myoclonus-dystonia syndrome

Identifieur interne : 002144 ( PascalFrancis/Corpus ); précédent : 002143; suivant : 002145

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 [ 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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 19`
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`

Format Inist (serveur)

NO :	PASCAL 04-0415281 INIST
ET :	Deep brain stimulation in myoclonus-dystonia syndrome
AU :	CIF (Laura); VALENTE (Enza Maria); HEMM (Simone); COUBES (Christine); VAYSSIERE (Nathalie); SERRAT (Stéphanie); DI GIORGIO (Annalisa); COUBES (Philippe)
AF :	Department of Neurosurgery (Research Group on Movement Disorders in Children) Gui de Chauliac University Hospital/Montpellier/France (1 aut., 3 aut., 5 aut., 6 aut., 8 aut.); IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute/Rome/Italie (2 aut., 7 aut.); Department of Medical Genetics Arnaud de Villeneuve, University Hospital/Montpellier/France (4 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 6; Pp. 724-727; Bibl. 29 ref.
LA :	Anglais
EA :	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.
CC :	002B17
FD :	Myoclonie; Dystonie; Système nerveux pathologie
FG :	Encéphale pathologie; Système nerveux central; Mouvement involontaire; Trouble neurologique; Extrapyramidal syndrome; Muscle strié pathologie; Système nerveux central pathologie
ED :	Myoclonus; Dystonia; Nervous system diseases
EG :	Cerebral disorder; Central nervous system; Involuntary movement; Neurological disorder; Extrapyramidal syndrome; Striated muscle disease; Central nervous system disease
SD :	Mioclonia; Distonía; Sistema nervioso patología
LO :	INIST-20953.354000113781310230
ID :	04-0415281

Links to Exploration step

Pascal:04-0415281

Le document en format XML

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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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<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>37</s5>
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<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux central</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Central nervous system</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervioso central</s0>
<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>
<server><NO>PASCAL 04-0415281 INIST</NO>
<ET>Deep brain stimulation in myoclonus-dystonia syndrome</ET>
<AU>CIF (Laura); VALENTE (Enza Maria); HEMM (Simone); COUBES (Christine); VAYSSIERE (Nathalie); SERRAT (Stéphanie); DI GIORGIO (Annalisa); COUBES (Philippe)</AU>
<AF>Department of Neurosurgery (Research Group on Movement Disorders in Children) Gui de Chauliac University Hospital/Montpellier/France (1 aut., 3 aut., 5 aut., 6 aut., 8 aut.); IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute/Rome/Italie (2 aut., 7 aut.); Department of Medical Genetics Arnaud de Villeneuve, University Hospital/Montpellier/France (4 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 6; Pp. 724-727; Bibl. 29 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17</CC>
<FD>Myoclonie; Dystonie; Système nerveux pathologie</FD>
<FG>Encéphale pathologie; Système nerveux central; Mouvement involontaire; Trouble neurologique; Extrapyramidal syndrome; Muscle strié pathologie; Système nerveux central pathologie</FG>
<ED>Myoclonus; Dystonia; Nervous system diseases</ED>
<EG>Cerebral disorder; Central nervous system; Involuntary movement; Neurological disorder; Extrapyramidal syndrome; Striated muscle disease; Central nervous system disease</EG>
<SD>Mioclonia; Distonía; Sistema nervioso patología</SD>
<LO>INIST-20953.354000113781310230</LO>
<ID>04-0415281</ID>
</server>
</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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