Deep brain stimulation in myoclonus-dystonia syndrome.
Identifieur interne : 000E57 ( Ncbi/Checkpoint ); précédent : 000E56; suivant : 000E58Deep brain stimulation in myoclonus-dystonia syndrome.
Auteurs : Laura Cif [France] ; Enza Maria Valente ; Simone Hemm ; Christine Coubes ; Nathalie Vayssiere ; Stéphanie Serrat ; Annalisa Di Giorgio ; Philippe CoubesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
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
Affiliations:
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pubmed:15197720Le document en format XML
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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></author><author><name sortKey="Serrat, Stephanie" sort="Serrat, Stephanie" uniqKey="Serrat S" first="Stéphanie" last="Serrat">Stéphanie Serrat</name></author><author><name sortKey="Di Giorgio, Annalisa" sort="Di Giorgio, Annalisa" uniqKey="Di Giorgio A" first="Annalisa" last="Di Giorgio">Annalisa Di Giorgio</name></author><author><name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2004">2004</date><idno type="RBID">pubmed:15197720</idno><idno type="pmid">15197720</idno><idno 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Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName></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></author><author><name sortKey="Serrat, Stephanie" sort="Serrat, Stephanie" uniqKey="Serrat S" first="Stéphanie" last="Serrat">Stéphanie Serrat</name></author><author><name sortKey="Di Giorgio, Annalisa" sort="Di Giorgio, Annalisa" uniqKey="Di Giorgio A" first="Annalisa" last="Di Giorgio">Annalisa Di Giorgio</name></author><author><name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2004" type="published">2004</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Anticonvulsants (therapeutic use)</term><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></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Anticonvulsants</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Epilepsies, Myoclonic</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="instrumentation" xml:lang="en"><term>Electric Stimulation</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Dystonic Disorders</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Combined Modality Therapy</term><term>Gene Deletion</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Polymerase Chain Reaction</term><term>Severity of Illness Index</term></keywords></textClass></profileDesc></teiHeader><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><affiliations><list><country><li>France</li></country><settlement><li>Montpellier</li></settlement></list><tree><noCountry><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="Di Giorgio, Annalisa" sort="Di Giorgio, Annalisa" uniqKey="Di Giorgio A" first="Annalisa" last="Di Giorgio">Annalisa Di Giorgio</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="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><name sortKey="Vayssiere, Nathalie" sort="Vayssiere, Nathalie" uniqKey="Vayssiere N" first="Nathalie" last="Vayssiere">Nathalie Vayssiere</name></noCountry><country name="France"><noRegion><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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