Subthalamic nucleus stimulation is efficacious in patients with parkinsonism and LRRK2 mutations
Identifieur interne : 004036 ( Main/Merge ); précédent : 004035; suivant : 004037Subthalamic nucleus stimulation is efficacious in patients with parkinsonism and LRRK2 mutations
Auteurs : Michael Schüpbach [France] ; Ebba Lohmann [France] ; Mathieu Anheim [France] ; Suzanne Lesage [France] ; Virginie Czernecki [France] ; Sadek Yaici [France] ; Yulia Worbe [France] ; Perrine Charles [France] ; Marie-Laure Welter [France] ; Pierre Pollak [France] ; Alexandra Dürr [France] ; Yves Agid [France] ; Alexis Brice [France]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
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.
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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>
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<placeName><settlement type="city">Paris</settlement>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM U679, Neurology and Expérimental Therapeutics, Hôpital de la Pitié-Salpêtrière</s1>
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<placeName><settlement type="city">Paris</settlement>
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<author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
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<placeName><settlement type="city">Paris</settlement>
</placeName>
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<placeName><settlement type="city">Paris</settlement>
</placeName>
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<author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name>
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<placeName><settlement type="city">Grenoble</settlement>
</placeName>
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<author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
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<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
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<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
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<author><name sortKey="Czernecki, Virginie" sort="Czernecki, Virginie" uniqKey="Czernecki V" first="Virginie" last="Czernecki">Virginie Czernecki</name>
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<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
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<placeName><settlement type="city">Paris</settlement>
</placeName>
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<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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<sZ>12 aut.</sZ>
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<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
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<sZ>1 aut.</sZ>
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<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
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<author><name sortKey="Worbe, Yulia" sort="Worbe, Yulia" uniqKey="Worbe Y" first="Yulia" last="Worbe">Yulia Worbe</name>
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<sZ>12 aut.</sZ>
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<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM U679, Neurology and Expérimental Therapeutics, Hôpital de la Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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<placeName><settlement type="city">Paris</settlement>
</placeName>
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<author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name>
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<placeName><settlement type="city">Paris</settlement>
</placeName>
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<country>France</country>
<placeName><settlement type="city">Paris</settlement>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM U679, Neurology and Expérimental Therapeutics, Hôpital de la Pitié-Salpêtrière</s1>
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<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
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<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Welter, Marie Laure" sort="Welter, Marie Laure" uniqKey="Welter M" first="Marie-Laure" last="Welter">Marie-Laure Welter</name>
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<s2>Paris</s2>
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<placeName><settlement type="city">Paris</settlement>
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<placeName><settlement type="city">Paris</settlement>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM U679, Neurology and Expérimental Therapeutics, Hôpital de la Pitié-Salpêtrière</s1>
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<placeName><settlement type="city">Paris</settlement>
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<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
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<placeName><settlement type="city">Paris</settlement>
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<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<placeName><settlement type="city">Paris</settlement>
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</placeName>
<orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName>
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<placeName><settlement type="city">Paris</settlement>
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<placeName><settlement type="city">Paris</settlement>
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<placeName><settlement type="city">Paris</settlement>
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<placeName><settlement type="city">Paris</settlement>
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</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Fédération des Maladies du Système Nerveux, Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM U679, Neurology and Expérimental Therapeutics, Hôpital de la Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Université Pierre et Marie Curie, Faculté de Médecine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</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>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Deep brain stimulation</term>
<term>Human</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Parkinsonism</term>
<term>Subthalamic nucleus</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinsonisme</term>
<term>Parkinson maladie</term>
<term>Noyau sousthalamique</term>
<term>Homme</term>
<term>Mutation</term>
<term>Stimulation cérébrale profonde</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</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.</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
</country>
<region><li>Auvergne-Rhône-Alpes</li>
<li>Rhône-Alpes</li>
<li>Île-de-France</li>
</region>
<settlement><li>Grenoble</li>
<li>Paris</li>
</settlement>
<orgName><li>Centre hospitalier universitaire Grenoble Alpes</li>
<li>Hôpital de la Salpêtrière</li>
<li>Université Pierre-et-Marie-Curie</li>
</orgName>
</list>
<tree><country name="France"><noRegion><name sortKey="Schupbach, Michael" sort="Schupbach, Michael" uniqKey="Schupbach M" first="Michael" last="Schüpbach">Michael Schüpbach</name>
</noRegion>
<name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name>
<name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name>
<name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name>
<name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name>
<name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name>
<name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name>
<name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name>
<name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name>
<name sortKey="Czernecki, Virginie" sort="Czernecki, Virginie" uniqKey="Czernecki V" first="Virginie" last="Czernecki">Virginie Czernecki</name>
<name sortKey="Czernecki, Virginie" sort="Czernecki, Virginie" uniqKey="Czernecki V" first="Virginie" last="Czernecki">Virginie Czernecki</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
<name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
<name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name>
<name sortKey="Schupbach, Michael" sort="Schupbach, Michael" uniqKey="Schupbach M" first="Michael" last="Schüpbach">Michael Schüpbach</name>
<name sortKey="Schupbach, Michael" sort="Schupbach, Michael" uniqKey="Schupbach M" first="Michael" last="Schüpbach">Michael Schüpbach</name>
<name sortKey="Welter, Marie Laure" sort="Welter, Marie Laure" uniqKey="Welter M" first="Marie-Laure" last="Welter">Marie-Laure Welter</name>
<name sortKey="Welter, Marie Laure" sort="Welter, Marie Laure" uniqKey="Welter M" first="Marie-Laure" last="Welter">Marie-Laure Welter</name>
<name sortKey="Welter, Marie Laure" sort="Welter, Marie Laure" uniqKey="Welter M" first="Marie-Laure" last="Welter">Marie-Laure Welter</name>
<name sortKey="Worbe, Yulia" sort="Worbe, Yulia" uniqKey="Worbe Y" first="Yulia" last="Worbe">Yulia Worbe</name>
<name sortKey="Worbe, Yulia" sort="Worbe, Yulia" uniqKey="Worbe Y" first="Yulia" last="Worbe">Yulia Worbe</name>
<name sortKey="Yaici, Sadek" sort="Yaici, Sadek" uniqKey="Yaici S" first="Sadek" last="Yaici">Sadek Yaici</name>
<name sortKey="Yaici, Sadek" sort="Yaici, Sadek" uniqKey="Yaici S" first="Sadek" last="Yaici">Sadek Yaici</name>
</country>
</tree>
</affiliations>
</record>
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