Subthalamic nucleus stimulation is efficacious in patients with parkinsonism and LRRK2 mutations
Identifieur interne : 001446 ( PascalFrancis/Checkpoint ); précédent : 001445; suivant : 001447Subthalamic 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
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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.
Affiliations:
- France
- Auvergne-Rhône-Alpes, Rhône-Alpes, Île-de-France
- Grenoble, Paris
- Centre hospitalier universitaire Grenoble Alpes, Hôpital de la Salpêtrière, Université Pierre-et-Marie-Curie
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Pascal:07-0133228Le document en format XML
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Pollak</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Département de Neurologie, CHU de Grenoble</s1><s2>Grenoble</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Grenoble</settlement></placeName><placeName><settlement type="city">Grenoble</settlement><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName><orgName type="hospital" n="4">Centre hospitalier universitaire Grenoble Alpes</orgName></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><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="1"><inist:fA14 i1="04"><s1>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>11 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><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre d'Investigation Clinique, 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>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></affiliation><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><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></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><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></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><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></affiliation></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 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type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0133228</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 07-0133228 INIST</idno><idno type="RBID">Pascal:07-0133228</idno><idno type="wicri:Area/PascalFrancis/Corpus">001824</idno><idno type="wicri:Area/PascalFrancis/Curation">001497</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001446</idno></publicationStmt><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><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre d'Investigation Clinique, 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>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><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><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></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><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="1"><inist:fA14 i1="04"><s1>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Département de Neurologie, CHU de Grenoble</s1><s2>Grenoble</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Grenoble</settlement></placeName></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><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><author><name sortKey="Czernecki, Virginie" sort="Czernecki, Virginie" uniqKey="Czernecki V" first="Virginie" last="Czernecki">Virginie Czernecki</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre d'Investigation Clinique, 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>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><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><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></author><author><name sortKey="Yaici, Sadek" sort="Yaici, Sadek" uniqKey="Yaici S" first="Sadek" last="Yaici">Sadek Yaici</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre d'Investigation Clinique, 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>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><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><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></author><author><name sortKey="Worbe, Yulia" sort="Worbe, Yulia" uniqKey="Worbe Y" first="Yulia" last="Worbe">Yulia Worbe</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre d'Investigation Clinique, 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>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 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></author><author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre d'Investigation Clinique, 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>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><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><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="1"><inist:fA14 i1="04"><s1>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><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><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre d'Investigation Clinique, 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>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><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><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></author><author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Département de Neurologie, CHU de Grenoble</s1><s2>Grenoble</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Grenoble</settlement></placeName><placeName><settlement type="city">Grenoble</settlement><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName><orgName type="hospital" n="4">Centre hospitalier universitaire Grenoble Alpes</orgName></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><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="1"><inist:fA14 i1="04"><s1>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>11 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><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Centre d'Investigation Clinique, 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>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></affiliation><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><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></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><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></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><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></affiliation></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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>22</s2></fA05><fA06><s2>1</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Subthalamic nucleus stimulation is efficacious in patients with parkinsonism and LRRK2 mutations</s1></fA08><fA11 i1="01" i2="1"><s1>SCHÜPBACH (Michael)</s1></fA11><fA11 i1="02" i2="1"><s1>LOHMANN (Ebba)</s1></fA11><fA11 i1="03" i2="1"><s1>ANHEIM (Mathieu)</s1></fA11><fA11 i1="04" i2="1"><s1>LESAGE (Suzanne)</s1></fA11><fA11 i1="05" i2="1"><s1>CZERNECKI (Virginie)</s1></fA11><fA11 i1="06" i2="1"><s1>YAICI (Sadek)</s1></fA11><fA11 i1="07" i2="1"><s1>WORBE (Yulia)</s1></fA11><fA11 i1="08" i2="1"><s1>CHARLES (Perrine)</s1></fA11><fA11 i1="09" i2="1"><s1>WELTER (Marie-Laure)</s1></fA11><fA11 i1="10" i2="1"><s1>POLLAK (Pierre)</s1></fA11><fA11 i1="11" i2="1"><s1>DÜRR (Alexandra)</s1></fA11><fA11 i1="12" i2="1"><s1>AGID (Yves)</s1></fA11><fA11 i1="13" i2="1"><s1>BRICE (Alexis)</s1></fA11><fA14 i1="01"><s1>Centre d'Investigation Clinique, 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>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ></fA14><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></fA14><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></fA14><fA14 i1="04"><s1>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ></fA14><fA14 i1="05"><s1>Département de Neurologie, CHU de Grenoble</s1><s2>Grenoble</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>10 aut.</sZ></fA14><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></fA14><fA20><s1>119-121</s1></fA20><fA21><s1>2007</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000145483830190</s5></fA43><fA44><s0>0000</s0><s1>© 2007 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>16 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>07-0133228</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC02 i1="03" i2="X"><s0>002B17F</s0></fC02><fC02 i1="04" i2="X"><s0>002B17H</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Parkinsonisme</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Parkinsonism</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Parkinson maladie</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Parkinson disease</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Noyau sousthalamique</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Subthalamic nucleus</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Núcleo subtalámico</s0><s5>09</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Homme</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Human</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Hombre</s0><s5>10</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Mutation</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Mutation</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Mutación</s0><s5>11</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Stimulation cérébrale profonde</s0><s4>CD</s4><s5>96</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Deep brain stimulation</s0><s4>CD</s4><s5>96</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0><s5>37</s5></fC07><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>Extrapyramidal syndrome</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>41</s5></fC07><fN21><s1>085</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><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>Pour manipuler ce document sous Unix (Dilib)
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