Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations
Identifieur interne : 003471 ( Istex/Corpus ); précédent : 003470; suivant : 003472Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations
Auteurs : Michael Schüpbach ; Ebba Lohmann ; Mathieu Anheim ; Suzanne Lesage ; Virginie Czernecki ; Sadek Yaici ; Yulia Worbe ; Perrine Charles ; Marie-Laure Welter ; Pierre Pollak ; Alexandra Dürr ; Yves Agid ; Alexis BriceSource :
- Movement Disorders [ 0885-3185 ] ; 2007-01.
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Abstract
Stimulation of the subthalamic nucleus (STN) improves motor signs in patients with levodopa‐responsive Parkinson's disease (PD). Mutations in the leucine‐rich repeat kinase‐2 (LRRK2) gene cause Parkinsonism. We assessed 69 patients under STN stimulation and found heterozygous LRRK2 mutations in 9 (G2019S in 8 and T2031S in 1). The age at onset of PD, the clinical characteristics before or after neurosurgery, and the clinical response to STN stimulation were similar in both groups. Two patients with the G2019S LRRK2 mutation still benefited from STN stimulation, 9 and 10 years after surgery. Patients with LRRK2 mutations are, therefore, good candidates for STN stimulation. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.21178
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations</title><author><name sortKey="Schupbach, Michael" sort="Schupbach, Michael" uniqKey="Schupbach M" first="Michael" last="Schüpbach">Michael Schüpbach</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><affiliation><mods:affiliation>Département de Neurologie, CHU de Grenoble, Grenoble, France</mods:affiliation></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Czernecki, Virginie" sort="Czernecki, Virginie" uniqKey="Czernecki V" first="Virginie" last="Czernecki">Virginie Czernecki</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Yaici, Sadek" sort="Yaici, Sadek" uniqKey="Yaici S" first="Sadek" last="Yaici">Sadek Yaici</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Worbe, Yulia" sort="Worbe, Yulia" uniqKey="Worbe Y" first="Yulia" last="Worbe">Yulia Worbe</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Welter, Marie Aure" sort="Welter, Marie Aure" uniqKey="Welter M" first="Marie-Laure" last="Welter">Marie-Laure Welter</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name><affiliation><mods:affiliation>Département de Neurologie, CHU de Grenoble, Grenoble, France</mods:affiliation></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:4273949CD72DEB14CA43A1ACFC390E832C1D796C</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21178</idno><idno type="url">https://api.istex.fr/document/4273949CD72DEB14CA43A1ACFC390E832C1D796C/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003471</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations</title><author><name sortKey="Schupbach, Michael" sort="Schupbach, Michael" uniqKey="Schupbach M" first="Michael" last="Schüpbach">Michael Schüpbach</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><affiliation><mods:affiliation>Département de Neurologie, CHU de Grenoble, Grenoble, France</mods:affiliation></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Czernecki, Virginie" sort="Czernecki, Virginie" uniqKey="Czernecki V" first="Virginie" last="Czernecki">Virginie Czernecki</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Yaici, Sadek" sort="Yaici, Sadek" uniqKey="Yaici S" first="Sadek" last="Yaici">Sadek Yaici</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Worbe, Yulia" sort="Worbe, Yulia" uniqKey="Worbe Y" first="Yulia" last="Worbe">Yulia Worbe</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Welter, Marie Aure" sort="Welter, Marie Aure" uniqKey="Welter M" first="Marie-Laure" last="Welter">Marie-Laure Welter</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name><affiliation><mods:affiliation>Département de Neurologie, CHU de Grenoble, Grenoble, France</mods:affiliation></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><affiliation><mods:affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-01">2007-01</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="119">119</biblScope><biblScope unit="page" to="122">122</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">4273949CD72DEB14CA43A1ACFC390E832C1D796C</idno><idno type="DOI">10.1002/mds.21178</idno><idno type="ArticleID">MDS21178</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>LRRK2</term><term>Parkinson's disease</term><term>dardarine</term><term>deep brain stimulation</term><term>genetics</term><term>subthalamic nucleus</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Stimulation of the subthalamic nucleus (STN) improves motor signs in patients with levodopa‐responsive Parkinson's disease (PD). Mutations in the leucine‐rich repeat kinase‐2 (LRRK2) gene cause Parkinsonism. We assessed 69 patients under STN stimulation and found heterozygous LRRK2 mutations in 9 (G2019S in 8 and T2031S in 1). The age at onset of PD, the clinical characteristics before or after neurosurgery, and the clinical response to STN stimulation were similar in both groups. Two patients with the G2019S LRRK2 mutation still benefited from STN stimulation, 9 and 10 years after surgery. Patients with LRRK2 mutations are, therefore, good candidates for STN stimulation. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Michael Schüpbach MD</name><affiliations><json:string>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</json:string></affiliations></json:item><json:item><name>Ebba Lohmann MD</name><affiliations><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</json:string><json:string>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string></affiliations></json:item><json:item><name>Mathieu Anheim MD</name><affiliations><json:string>Département de Neurologie, CHU de Grenoble, Grenoble, France</json:string></affiliations></json:item><json:item><name>Suzanne Lesage PhD</name><affiliations><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</json:string><json:string>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</json:string></affiliations></json:item><json:item><name>Virginie Czernecki MA</name><affiliations><json:string>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string></affiliations></json:item><json:item><name>Sadek Yaici MD</name><affiliations><json:string>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string></affiliations></json:item><json:item><name>Yulia Worbe MD</name><affiliations><json:string>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</json:string></affiliations></json:item><json:item><name>Perrine Charles MD, PhD</name><affiliations><json:string>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</json:string><json:string>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string></affiliations></json:item><json:item><name>Marie‐Laure Welter MD</name><affiliations><json:string>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</json:string></affiliations></json:item><json:item><name>Pierre Pollak MD, PhD</name><affiliations><json:string>Département de Neurologie, CHU de Grenoble, Grenoble, France</json:string></affiliations></json:item><json:item><name>Alexandra Dürr MD, PhD</name><affiliations><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</json:string><json:string>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</json:string></affiliations></json:item><json:item><name>Yves Agid MD, PhD</name><affiliations><json:string>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</json:string><json:string>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</json:string></affiliations></json:item><json:item><name>Alexis Brice MD</name><affiliations><json:string>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</json:string><json:string>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>LRRK2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dardarine</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>subthalamic nucleus</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>deep brain stimulation</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Stimulation of the subthalamic nucleus (STN) improves motor signs in patients with levodopa‐responsive Parkinson's disease (PD). Mutations in the leucine‐rich repeat kinase‐2 (LRRK2) gene cause Parkinsonism. We assessed 69 patients under STN stimulation and found heterozygous LRRK2 mutations in 9 (G2019S in 8 and T2031S in 1). The age at onset of PD, the clinical characteristics before or after neurosurgery, and the clinical response to STN stimulation were similar in both groups. Two patients with the G2019S LRRK2 mutation still benefited from STN stimulation, 9 and 10 years after surgery. Patients with LRRK2 mutations are, therefore, good candidates for STN stimulation. © 2006 Movement Disorder Society</abstract><qualityIndicators><score>3.279</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>713</abstractCharCount><pdfWordCount>2007</pdfWordCount><pdfCharCount>12902</pdfCharCount><pdfPageCount>3</pdfPageCount><abstractWordCount>106</abstractWordCount></qualityIndicators><title>Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations</title><genre><json:string>Serial article</json:string></genre><host><volume>22</volume><pages><total>4</total><last>122</last><first>119</first></pages><issn><json:string>0885-3185</json:string></issn><issue>1</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement 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AP‐HP, Paris, France</affiliation><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation></author><author><persName><forename type="first">Ebba</forename><surname>Lohmann</surname><roleName type="degree">MD</roleName></persName><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation><affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation></author><author><persName><forename type="first">Mathieu</forename><surname>Anheim</surname><roleName type="degree">MD</roleName></persName><affiliation>Département de Neurologie, CHU de Grenoble, Grenoble, France</affiliation></author><author><persName><forename type="first">Suzanne</forename><surname>Lesage</surname><roleName type="degree">PhD</roleName></persName><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation><affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</affiliation></author><author><persName><forename type="first">Virginie</forename><surname>Czernecki</surname><roleName type="degree">MA</roleName></persName><affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation></author><author><persName><forename type="first">Sadek</forename><surname>Yaici</surname><roleName type="degree">MD</roleName></persName><affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation></author><author><persName><forename type="first">Yulia</forename><surname>Worbe</surname><roleName type="degree">MD</roleName></persName><affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation></author><author><persName><forename type="first">Perrine</forename><surname>Charles</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation><affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation></author><author><persName><forename type="first">Marie‐Laure</forename><surname>Welter</surname><roleName type="degree">MD</roleName></persName><affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation></author><author><persName><forename type="first">Pierre</forename><surname>Pollak</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Département de Neurologie, CHU de Grenoble, Grenoble, France</affiliation></author><author><persName><forename type="first">Alexandra</forename><surname>Dürr</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation><affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</affiliation></author><author><persName><forename type="first">Yves</forename><surname>Agid</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation><affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</affiliation></author><author><persName><forename type="first">Alexis</forename><surname>Brice</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: INSERM U679, Hôpital de la Salpêtrière, AP‐HP, 47, Boulevard de l′Hôpital, 75651 Paris cedex 13, France</p></note><affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation><affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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We assessed 69 patients under STN stimulation and found heterozygous LRRK2 mutations in 9 (G2019S in 8 and T2031S in 1). The age at onset of PD, the clinical characteristics before or after neurosurgery, and the clinical response to STN stimulation were similar in both groups. Two patients with the G2019S LRRK2 mutation still benefited from STN stimulation, 9 and 10 years after surgery. Patients with LRRK2 mutations are, therefore, good candidates for STN stimulation. © 2006 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>genetics</term></item><item><term>LRRK2</term></item><item><term>dardarine</term></item><item><term>subthalamic nucleus</term></item><item><term>deep brain stimulation</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2006-05-19">Received</change><change when="2006-07-14">Registration</change><change when="2007-01">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/4273949CD72DEB14CA43A1ACFC390E832C1D796C/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. 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Recherche</fundingAgency><fundingNumber>ANR‐05‐NEUR‐019</fundingNumber></fundingInfo><fundingInfo><fundingAgency>European Grant APOPIS</fundingAgency><fundingNumber>EU Contract No.LSHM‐CT‐2003‐503330</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Stimulation of the subthalamic nucleus (STN) improves motor signs in patients with levodopa‐responsive Parkinson's disease (PD). Mutations in the leucine‐rich repeat kinase‐2 (LRRK2) gene cause Parkinsonism. We assessed 69 patients under STN stimulation and found heterozygous LRRK2 mutations in 9 (G2019S in 8 and T2031S in 1). The age at onset of PD, the clinical characteristics before or after neurosurgery, and the clinical response to STN stimulation were similar in both groups. Two patients with the G2019S LRRK2 mutation still benefited from STN stimulation, 9 and 10 years after surgery. Patients with LRRK2 mutations are, therefore, good candidates for STN stimulation. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>STN Stimulation in Patients with LRRK2 Mutations</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations</title></titleInfo><name type="personal"><namePart type="given">Michael</namePart><namePart type="family">Schüpbach</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, 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type="termsOfAddress">MD, PhD</namePart><affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation><affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marie‐Laure</namePart><namePart type="family">Welter</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pierre</namePart><namePart type="family">Pollak</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Département de Neurologie, CHU de Grenoble, Grenoble, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexandra</namePart><namePart type="family">Dürr</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation><affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yves</namePart><namePart type="family">Agid</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Centre d′Investigation Clinique, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation><affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexis</namePart><namePart type="family">Brice</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, Paris, France</affiliation><affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Université Pierre et Marie Curie, Faculté de Médecine, Paris, France</affiliation><description>Correspondence: INSERM U679, Hôpital de la Salpêtrière, AP‐HP, 47, Boulevard de l′Hôpital, 75651 Paris cedex 13, France</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-01</dateIssued><dateCaptured encoding="w3cdtf">2006-05-19</dateCaptured><dateValid encoding="w3cdtf">2006-07-14</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">1</extent><extent unit="references">16</extent><extent unit="words">2373</extent></physicalDescription><abstract lang="en">Stimulation of the subthalamic nucleus (STN) improves motor signs in patients with levodopa‐responsive Parkinson's disease (PD). Mutations in the leucine‐rich repeat kinase‐2 (LRRK2) gene cause Parkinsonism. We assessed 69 patients under STN stimulation and found heterozygous LRRK2 mutations in 9 (G2019S in 8 and T2031S in 1). The age at onset of PD, the clinical characteristics before or after neurosurgery, and the clinical response to STN stimulation were similar in both groups. Two patients with the G2019S LRRK2 mutation still benefited from STN stimulation, 9 and 10 years after surgery. Patients with LRRK2 mutations are, therefore, good candidates for STN stimulation. © 2006 Movement Disorder Society</abstract><note type="funding">The Agence Nationale pour la Recherche - No. ANR‐05‐NEUR‐019; </note><note type="funding">European Grant APOPIS - EU Contract No.LSHM‐CT‐2003‐503330; </note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>genetics</topic><topic>LRRK2</topic><topic>dardarine</topic><topic>subthalamic nucleus</topic><topic>deep brain stimulation</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>119</start><end>122</end><total>4</total></extent></part></relatedItem><identifier type="istex">4273949CD72DEB14CA43A1ACFC390E832C1D796C</identifier><identifier type="DOI">10.1002/mds.21178</identifier><identifier type="ArticleID">MDS21178</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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