Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism
Identifieur interne : 002414 ( Main/Exploration ); précédent : 002413; suivant : 002415Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism
Auteurs : E. Moro [Canada] ; J. Volkmann [Allemagne] ; I. R. Konig [Allemagne] ; S. Winkler [Allemagne] ; A. Hiller [Allemagne] ; S. Hassin-Baer [Israël] ; J. Herzog [Allemagne] ; A. Schnitzler [Allemagne] ; K. Lohmann [Allemagne] ; M. O. Pinsker [Allemagne] ; J. Voges [Allemagne] ; A. Djarmatic [Allemagne] ; P. Seibler [Allemagne] ; A. M. Lozano [Canada] ; E. Rogaeva [Canada] ; A. E. Lang [Canada] ; G. Deuschl [Allemagne] ; C. Klein [Canada, Allemagne]Source :
- Neurology [ 0028-3878 ] ; 2008.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Objectives: To study the frequency of different gene mutations in patients with early-onset parkinsonism and bilateral subthalamic nucleus deep brain stimulation (STN-DBS) and the short- and long-term surgical outcome in mutation-positive (MUT+) and -negative (MUT-) patients. Methods: Eighty patients with disease onset at age ≤ 45 years and bilateral STN-DBS were screened for mutations in the Parkin gene and PINK1 gene and for the recurrent p.G2019S mutation in the LRRK2 gene. The Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (H-Y) scale were used to compare the on- and off-medication conditions preoperatively and in the off-medication/on-stimulation condition postoperatively. Results: We identified 12 mutation carriers (11 Parkin [6 with 2 mutated alleles, 5 with 1 mutated allele], 1 homozygous PINK1). There were no clinical differences between the MUT- and MUT+ patients preoperatively, except for more severe H-Y stage and postural and gait scores in the on-medication state in the MUT+ group. During the first year after surgery, MUT- patients showed better clinical improvement (56% motor UPDRS improvement) compared with MUT+ patients (36%). However, in the long-term follow-up (3-6 years), both groups presented with the same degree of clinical improvement (MUT-: 44% vs MUT+: 42%). Although the MUT+ group showed more severe axial signs preoperatively, MUT- patients developed levodopa- and deep brain stimulation-resistant axial signs within the first 3 to 6 years postoperatively, which diminished the initial benefit soon after surgery. Conclusions: Patients with Parkin or PINK1 mutations benefit from subthalamic nucleus deep brain stimulation. However, the clinical response is not superior to non-mutation carriers and might be limited by more advanced axial motor symptoms at a relatively early disease stage.
Affiliations:
- Allemagne, Canada, Israël
- District de Düsseldorf, Ontario, Rhénanie-du-Nord-Westphalie
- Düsseldorf, Toronto
- Université de Toronto
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Herzog</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Christian-Albrechts-University Kiel</wicri:noRegion><wicri:noRegion>Department of Neurology, Christian-Albrechts-University Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Schnitzler, A" sort="Schnitzler, A" uniqKey="Schnitzler A" first="A." last="Schnitzler">A. 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Djarmatic</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Human Genetics, University of Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Seibler, P" sort="Seibler, P" uniqKey="Seibler P" first="P." last="Seibler">P. Seibler</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Human Genetics, University of Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Lozano, A M" sort="Lozano, A M" uniqKey="Lozano A" first="A. M." last="Lozano">A. M. Lozano</name><affiliation wicri:level="4"><inist:fA14 i1="10"><s1>Department of Neurosurgery, Toronto Western Hospital, University of Toronto</s1><s2>Ontario</s2><s3>CAN</s3><sZ>14 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Rogaeva, E" sort="Rogaeva, E" uniqKey="Rogaeva E" first="E." last="Rogaeva">E. Rogaeva</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1><s2>Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1><s2>Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Deuschl, G" sort="Deuschl, G" uniqKey="Deuschl G" first="G." last="Deuschl">G. Deuschl</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Christian-Albrechts-University Kiel</wicri:noRegion><wicri:noRegion>Department of Neurology, Christian-Albrechts-University Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1><s2>Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Human Genetics, University of Lübeck</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">08-0202409</idno><date when="2008">2008</date><idno type="stanalyst">PASCAL 08-0202409 INIST</idno><idno type="RBID">Pascal:08-0202409</idno><idno type="wicri:Area/PascalFrancis/Corpus">000658</idno><idno type="wicri:Area/PascalFrancis/Curation">000652</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000565</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000565</idno><idno type="wicri:doubleKey">0028-3878:2008:Moro E:bilateral:subthalamic:stimulation</idno><idno type="wicri:Area/Main/Merge">002626</idno><idno type="wicri:Area/Main/Curation">002414</idno><idno type="wicri:Area/Main/Exploration">002414</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism</title><author><name sortKey="Moro, E" sort="Moro, E" uniqKey="Moro E" first="E." last="Moro">E. Moro</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1><s2>Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Volkmann, J" sort="Volkmann, J" uniqKey="Volkmann J" first="J." last="Volkmann">J. Volkmann</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Christian-Albrechts-University Kiel</wicri:noRegion><wicri:noRegion>Department of Neurology, Christian-Albrechts-University Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Konig, I R" sort="Konig, I R" uniqKey="Konig I" first="I. R." last="Konig">I. R. Konig</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Institute of Medical Biometry and Statistics, University of Lübeck</s1><s3>DEU</s3><sZ>3 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Institute of Medical Biometry and Statistics, University of Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Winkler, S" sort="Winkler, S" uniqKey="Winkler S" first="S." last="Winkler">S. Winkler</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Human Genetics, University of Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Hiller, A" sort="Hiller, A" uniqKey="Hiller A" first="A." last="Hiller">A. Hiller</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Hassin Baer, S" sort="Hassin Baer, S" uniqKey="Hassin Baer S" first="S." last="Hassin-Baer">S. Hassin-Baer</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Sagol Neuroscience Center and Department of Neurology Chaim Sheba Medical Center</s1><s2>Tel-Hashomer</s2><s3>ISR</s3><sZ>6 aut.</sZ></inist:fA14><country>Israël</country><wicri:noRegion>Sagol Neuroscience Center and Department of Neurology Chaim Sheba Medical Center</wicri:noRegion></affiliation></author><author><name sortKey="Herzog, J" sort="Herzog, J" uniqKey="Herzog J" first="J." last="Herzog">J. Herzog</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Christian-Albrechts-University Kiel</wicri:noRegion><wicri:noRegion>Department of Neurology, Christian-Albrechts-University Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Schnitzler, A" sort="Schnitzler, A" uniqKey="Schnitzler A" first="A." last="Schnitzler">A. Schnitzler</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Neurology Heinrich-Heine-University</s1><s2>Dusseldorf</s2><s3>DEU</s3><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Düsseldorf</region><settlement type="city">Düsseldorf</settlement></placeName></affiliation></author><author><name sortKey="Lohmann, K" sort="Lohmann, K" uniqKey="Lohmann K" first="K." last="Lohmann">K. Lohmann</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Human Genetics, University of Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Pinsker, M O" sort="Pinsker, M O" uniqKey="Pinsker M" first="M. O." last="Pinsker">M. O. Pinsker</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Neurosurgery, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Christian-Albrechts-University Kiel</wicri:noRegion><wicri:noRegion>Department of Neurosurgery, Christian-Albrechts-University Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Voges, J" sort="Voges, J" uniqKey="Voges J" first="J." last="Voges">J. Voges</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Stereotaxy and Functional Neurosurgery University of Cologne</s1><s3>DEU</s3><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Department of Stereotaxy and Functional Neurosurgery University of Cologne</wicri:noRegion><wicri:noRegion>Department of Stereotaxy and Functional Neurosurgery University of Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Djarmatic, A" sort="Djarmatic, A" uniqKey="Djarmatic A" first="A." last="Djarmatic">A. Djarmatic</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Human Genetics, University of Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Seibler, P" sort="Seibler, P" uniqKey="Seibler P" first="P." last="Seibler">P. Seibler</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Human Genetics, University of Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Lozano, A M" sort="Lozano, A M" uniqKey="Lozano A" first="A. M." last="Lozano">A. M. Lozano</name><affiliation wicri:level="4"><inist:fA14 i1="10"><s1>Department of Neurosurgery, Toronto Western Hospital, University of Toronto</s1><s2>Ontario</s2><s3>CAN</s3><sZ>14 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Rogaeva, E" sort="Rogaeva, E" uniqKey="Rogaeva E" first="E." last="Rogaeva">E. Rogaeva</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1><s2>Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1><s2>Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Deuschl, G" sort="Deuschl, G" uniqKey="Deuschl G" first="G." last="Deuschl">G. Deuschl</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Christian-Albrechts-University Kiel</wicri:noRegion><wicri:noRegion>Department of Neurology, Christian-Albrechts-University Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1><s2>Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Neurology, University of Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1><s3>DEU</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Department of Human Genetics, University of Lübeck</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term><term>Parkin</term><term>Parkinsonism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Parkine</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objectives: To study the frequency of different gene mutations in patients with early-onset parkinsonism and bilateral subthalamic nucleus deep brain stimulation (STN-DBS) and the short- and long-term surgical outcome in mutation-positive (MUT+) and -negative (MUT-) patients. Methods: Eighty patients with disease onset at age ≤ 45 years and bilateral STN-DBS were screened for mutations in the Parkin gene and PINK1 gene and for the recurrent p.G2019S mutation in the LRRK2 gene. The Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (H-Y) scale were used to compare the on- and off-medication conditions preoperatively and in the off-medication/on-stimulation condition postoperatively. Results: We identified 12 mutation carriers (11 Parkin [6 with 2 mutated alleles, 5 with 1 mutated allele], 1 homozygous PINK1). There were no clinical differences between the MUT- and MUT+ patients preoperatively, except for more severe H-Y stage and postural and gait scores in the on-medication state in the MUT+ group. During the first year after surgery, MUT- patients showed better clinical improvement (56% motor UPDRS improvement) compared with MUT+ patients (36%). However, in the long-term follow-up (3-6 years), both groups presented with the same degree of clinical improvement (MUT-: 44% vs MUT+: 42%). Although the MUT+ group showed more severe axial signs preoperatively, MUT- patients developed levodopa- and deep brain stimulation-resistant axial signs within the first 3 to 6 years postoperatively, which diminished the initial benefit soon after surgery. Conclusions: Patients with Parkin or PINK1 mutations benefit from subthalamic nucleus deep brain stimulation. However, the clinical response is not superior to non-mutation carriers and might be limited by more advanced axial motor symptoms at a relatively early disease stage.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Canada</li><li>Israël</li></country><region><li>District de Düsseldorf</li><li>Ontario</li><li>Rhénanie-du-Nord-Westphalie</li></region><settlement><li>Düsseldorf</li><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><region name="Ontario"><name sortKey="Moro, E" sort="Moro, E" uniqKey="Moro E" first="E." last="Moro">E. Moro</name></region><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name><name sortKey="Lozano, A M" sort="Lozano, A M" uniqKey="Lozano A" first="A. M." last="Lozano">A. M. Lozano</name><name sortKey="Rogaeva, E" sort="Rogaeva, E" uniqKey="Rogaeva E" first="E." last="Rogaeva">E. Rogaeva</name></country><country name="Allemagne"><noRegion><name sortKey="Volkmann, J" sort="Volkmann, J" uniqKey="Volkmann J" first="J." last="Volkmann">J. Volkmann</name></noRegion><name sortKey="Deuschl, G" sort="Deuschl, G" uniqKey="Deuschl G" first="G." last="Deuschl">G. Deuschl</name><name sortKey="Djarmatic, A" sort="Djarmatic, A" uniqKey="Djarmatic A" first="A." last="Djarmatic">A. Djarmatic</name><name sortKey="Djarmatic, A" sort="Djarmatic, A" uniqKey="Djarmatic A" first="A." last="Djarmatic">A. Djarmatic</name><name sortKey="Herzog, J" sort="Herzog, J" uniqKey="Herzog J" first="J." last="Herzog">J. Herzog</name><name sortKey="Hiller, A" sort="Hiller, A" uniqKey="Hiller A" first="A." last="Hiller">A. Hiller</name><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><name sortKey="Konig, I R" sort="Konig, I R" uniqKey="Konig I" first="I. R." last="Konig">I. R. Konig</name><name sortKey="Lohmann, K" sort="Lohmann, K" uniqKey="Lohmann K" first="K." last="Lohmann">K. Lohmann</name><name sortKey="Lohmann, K" sort="Lohmann, K" uniqKey="Lohmann K" first="K." last="Lohmann">K. Lohmann</name><name sortKey="Pinsker, M O" sort="Pinsker, M O" uniqKey="Pinsker M" first="M. O." last="Pinsker">M. O. Pinsker</name><name sortKey="Schnitzler, A" sort="Schnitzler, A" uniqKey="Schnitzler A" first="A." last="Schnitzler">A. Schnitzler</name><name sortKey="Seibler, P" sort="Seibler, P" uniqKey="Seibler P" first="P." last="Seibler">P. Seibler</name><name sortKey="Seibler, P" sort="Seibler, P" uniqKey="Seibler P" first="P." last="Seibler">P. Seibler</name><name sortKey="Voges, J" sort="Voges, J" uniqKey="Voges J" first="J." last="Voges">J. Voges</name><name sortKey="Winkler, S" sort="Winkler, S" uniqKey="Winkler S" first="S." last="Winkler">S. Winkler</name><name sortKey="Winkler, S" sort="Winkler, S" uniqKey="Winkler S" first="S." last="Winkler">S. Winkler</name></country><country name="Israël"><noRegion><name sortKey="Hassin Baer, S" sort="Hassin Baer, S" uniqKey="Hassin Baer S" first="S." last="Hassin-Baer">S. Hassin-Baer</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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