Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease
Identifieur interne : 000003 ( PascalFrancis/Corpus ); précédent : 000002; suivant : 000004Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease
Auteurs : Jessie Theuns ; Aline Verstraeten ; Kristel Sleegers ; Eline Wauters ; Ilse Gijselinck ; Stefanie Smolders ; David Crosiers ; Ellen Corsmit ; Ellen Elinck ; Manu Sharma ; Rejko Krüger ; Suzanne Lesage ; Alexis Brice ; SUN JU CHUNG ; Mi-Jung Kim ; YOUNG JIN KIM ; Owen A. Ross ; Zbigniew K. Wszolek ; Ekaterina Rogaeva ; ZHENGRUI XI ; Anthony E. Lang ; Christine Klein ; Anne Weissbach ; George D. Mellick ; Peter A. Silburn ; Georgios M. Hadjigeorgiou ; Efthimios Dardiotis ; Nobutaka Hattori ; Kotaro Ogaki ; Eng-King Tan ; YI ZHAO ; Jan Aasly ; Enza Maria Valente ; Simona Petrucci ; Grazia Annesi ; Aldo Quattrone ; Carlo Ferrarese ; Laura Brighina ; Angela Deutschl Nder ; Andreas Puschmann ; Christer Nilsson ; Gaëtan Garraux ; Mark S. Le Doux ; Ronald F. Pfeiffer ; Magdalena Boczarska-Jedynak ; Grzegorz Opala ; Demetrius M. Maraganore ; Sebastian Engelborghs ; Peter Paul De Deyn ; Patrick Cras ; Marc Cruts ; Christine Van BroeckhovenSource :
- Neurology [ 0028-3878 ] ; 2014.
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Abstract
Objectives: The objective of this study is to clarify the role of (G4C2)n expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort. Methods: C9orf72 (G4C2)n repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia. Results: A pathogenic (G4C2)n>60 expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G4C2)n repeats; however, we could not detect a robust association between the C9orf72 (G4C2)n repeat and PD, and the population attributable risk was low. Conclusions: Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease.
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| NO : | PASCAL 15-0006093 INIST |
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| ET : | Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease |
| AU : | THEUNS (Jessie); VERSTRAETEN (Aline); SLEEGERS (Kristel); WAUTERS (Eline); GIJSELINCK (Ilse); SMOLDERS (Stefanie); CROSIERS (David); CORSMIT (Ellen); ELINCK (Ellen); SHARMA (Manu); KRÜGER (Rejko); LESAGE (Suzanne); BRICE (Alexis); SUN JU CHUNG; KIM (Mi-Jung); YOUNG JIN KIM; ROSS (Owen A.); WSZOLEK (Zbigniew K.); ROGAEVA (Ekaterina); ZHENGRUI XI; LANG (Anthony E.); KLEIN (Christine); WEISSBACH (Anne); MELLICK (George D.); SILBURN (Peter A.); HADJIGEORGIOU (Georgios M.); DARDIOTIS (Efthimios); HATTORI (Nobutaka); OGAKI (Kotaro); TAN (Eng-King); YI ZHAO; AASLY (Jan); VALENTE (Enza Maria); PETRUCCI (Simona); ANNESI (Grazia); QUATTRONE (Aldo); FERRARESE (Carlo); BRIGHINA (Laura); DEUTSCHLÄNDER (Angela); PUSCHMANN (Andreas); NILSSON (Christer); GARRAUX (Gaëtan); LE DOUX (Mark S.); PFEIFFER (Ronald F.); BOCZARSKA-JEDYNAK (Magdalena); OPALA (Grzegorz); MARAGANORE (Demetrius M.); ENGELBORGHS (Sebastian); DE DEYN (Peter Paul); CRAS (Patrick); CRUTS (Marc); VAN BROECKHOVEN (Christine) |
| AF : | Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB/Antwerp/Belgique (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut., 51 aut., 52 aut.); Institute Born-Bunge, University of Antwerp/Belgique (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut.); Department of Neurology, Antwerp University Hospital/Edegem/Belgique (7 aut.); Department of Neurology and Memory Clinic , Hospital Network Antwerp, Middelheim and Hoge Beuken/Antwerp/Belgique (48 aut., 49 aut.); Department of Neurology and Alzheimer Research Center, Universiry of Groningen and University Medical Center Groningen/Pays-Bas (49 aut.); Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and DZNE-German Center for Neurodegenerative Diseases/Tuebingen/Allemagne (10 aut., 11 aut.); Institute for Clinical Epidemiology and Applied Biometry, University of Tuebingen/Allemagne (10 aut.); INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtrière Hospital/France (12 aut., 13 aut.); CNRS, UMR 7225/Paris/France (12 aut., 13 aut.); AP-HP, Pitiê-Salpêtrière Hospital, Department of Genetics and Cytogenetics/Paris/France (13 aut.); Department of Neurology , Asan Medical Center, University of Ulsan College of Medicine/Seoul/Corée, République de (14 aut., 15 aut., 16 aut.); Department of Neuroscience, Mayo Clinic/Jacksonville, FL/Etats-Unis (17 aut.); Department of Neurology, Mayo Clinic/Jacksonville, FL/Etats-Unis (18 aut.); Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto/Canada (19 aut., 20 aut.); Toronto Western Hospital Research Institute, University Health Network/Toronto/Canada (21 aut.); Institute of Neurogenetics, University of Luebeck/Allemagne (22 aut., 23 aut.); Eskitis Institute for Drug Discovery, Griffith University/Queensland/Australie (26 aut.); University of Queensland, Centre for Clinical Research/Queensland/Australie (25 aut.); Department of Neurology, Neuroscience Unit, Faculty of Medicine, School of Health Sciences, University of Thessaly/Larissa/Grèce (27 aut.); Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (28 aut., 29 aut.); Department of Neurology, Singapore General Hospital, National Neuroscience Institute/Singapour (30 aut., 31 aut.); Duke NUS Graduate Medical School/Singapour (30 aut.); Department of Neurology, St. Olav's Hospital/Trondheim/Norvège (32 aut.); Department of Neuroscience, Norwegian University of Science and Technology (NTNU)/Trondheim/Norvège (32 aut.); IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory/San Giovanni Rotondo/Italie (33 aut., 34 aut.) |
| DT : | Publication en série; Niveau analytique |
| SO : | Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2014; Vol. 83; No. 21; Pp. 1906-1913; Bibl. 30 ref. |
| LA : | Anglais |
| EA : | Objectives: The objective of this study is to clarify the role of (G4C2)n expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort. Methods: C9orf72 (G4C2)n repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia. Results: A pathogenic (G4C2)n>60 expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G4C2)n repeats; however, we could not detect a robust association between the C9orf72 (G4C2)n repeat and PD, and the population attributable risk was low. Conclusions: Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease. |
| CC : | 002B17G; 002B17A01; 002B17A03 |
| FD : | Maladie de Parkinson; Pathologie du système nerveux |
| FG : | Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central |
| ED : | Parkinson disease; Nervous system diseases |
| EG : | Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease |
| SD : | Parkinson enfermedad; Sistema nervioso patología |
| LO : | INIST-6345.354000508291500050 |
| ID : | 15-0006093 |
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Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="03"><s1>Department of Neurology, Antwerp University Hospital</s1><s2>Edegem</s2><s3>BEL</s3><sZ>7 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Corsmit, Ellen" sort="Corsmit, Ellen" uniqKey="Corsmit E" first="Ellen" last="Corsmit">Ellen Corsmit</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Elinck, Ellen" sort="Elinck, Ellen" uniqKey="Elinck E" first="Ellen" last="Elinck">Ellen Elinck</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><affiliation><inist:fA14 i1="06"><s1>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and DZNE-German Center for Neurodegenerative Diseases</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="07"><s1>Institute for Clinical Epidemiology and Applied Biometry, University of Tuebingen</s1><s3>DEU</s3><sZ>10 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name><affiliation><inist:fA14 i1="06"><s1>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and DZNE-German Center for Neurodegenerative Diseases</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><inist:fA14 i1="08"><s1>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtrière Hospital</s1><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="09"><s1>CNRS, UMR 7225</s1><s2>Paris</s2><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><inist:fA14 i1="08"><s1>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtrière Hospital</s1><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="09"><s1>CNRS, UMR 7225</s1><s2>Paris</s2><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="10"><s1>AP-HP, Pitiê-Salpêtrière Hospital, Department of Genetics and Cytogenetics</s1><s2>Paris</s2><s3>FRA</s3><sZ>13 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Sun Ju Chung" sort="Sun Ju Chung" uniqKey="Sun Ju Chung" last="Sun Ju Chung">SUN JU CHUNG</name><affiliation><inist:fA14 i1="11"><s1>Department of Neurology , Asan Medical Center, University of Ulsan College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Kim, Mi Jung" sort="Kim, Mi Jung" uniqKey="Kim M" first="Mi-Jung" last="Kim">Mi-Jung Kim</name><affiliation><inist:fA14 i1="11"><s1>Department of Neurology , Asan Medical Center, University of Ulsan College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Young Jin Kim" sort="Young Jin Kim" uniqKey="Young Jin Kim" last="Young Jin Kim">YOUNG JIN KIM</name><affiliation><inist:fA14 i1="11"><s1>Department of Neurology , Asan Medical Center, University of Ulsan College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><inist:fA14 i1="12"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>17 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><inist:fA14 i1="13"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation><inist:fA14 i1="14"><s1>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto</s1><s3>CAN</s3><sZ>19 aut.</sZ><sZ>20 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Zhengrui Xi" sort="Zhengrui Xi" uniqKey="Zhengrui Xi" last="Zhengrui Xi">ZHENGRUI XI</name><affiliation><inist:fA14 i1="14"><s1>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto</s1><s3>CAN</s3><sZ>19 aut.</sZ><sZ>20 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation><inist:fA14 i1="15"><s1>Toronto Western Hospital Research Institute, University Health Network</s1><s2>Toronto</s2><s3>CAN</s3><sZ>21 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><inist:fA14 i1="16"><s1>Institute of Neurogenetics, University of Luebeck</s1><s3>DEU</s3><sZ>22 aut.</sZ><sZ>23 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Weissbach, Anne" sort="Weissbach, Anne" uniqKey="Weissbach A" first="Anne" last="Weissbach">Anne Weissbach</name><affiliation><inist:fA14 i1="16"><s1>Institute of Neurogenetics, University of Luebeck</s1><s3>DEU</s3><sZ>22 aut.</sZ><sZ>23 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name><affiliation><inist:fA14 i1="18"><s1>University of Queensland, Centre for Clinical Research</s1><s2>Queensland</s2><s3>AUS</s3><sZ>25 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name><affiliation><inist:fA14 i1="17"><s1>Eskitis Institute for Drug Discovery, Griffith University</s1><s2>Queensland</s2><s3>AUS</s3><sZ>26 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Dardiotis, Efthimios" sort="Dardiotis, Efthimios" uniqKey="Dardiotis E" first="Efthimios" last="Dardiotis">Efthimios Dardiotis</name><affiliation><inist:fA14 i1="19"><s1>Department of Neurology, Neuroscience Unit, Faculty of Medicine, School of Health Sciences, University of Thessaly</s1><s2>Larissa</s2><s3>GRC</s3><sZ>27 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><inist:fA14 i1="20"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>28 aut.</sZ><sZ>29 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><affiliation><inist:fA14 i1="20"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>28 aut.</sZ><sZ>29 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name><affiliation><inist:fA14 i1="21"><s1>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</s1><s3>SGP</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="22"><s1>Duke NUS Graduate Medical School</s1><s3>SGP</s3><sZ>30 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Yi Zhao" sort="Yi Zhao" uniqKey="Yi Zhao" last="Yi Zhao">YI ZHAO</name><affiliation><inist:fA14 i1="21"><s1>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</s1><s3>SGP</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Aasly, Jan" sort="Aasly, Jan" uniqKey="Aasly J" first="Jan" last="Aasly">Jan Aasly</name><affiliation><inist:fA14 i1="23"><s1>Department of Neurology, St. Olav's Hospital</s1><s2>Trondheim</s2><s3>NOR</s3><sZ>32 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="24"><s1>Department of Neuroscience, Norwegian University of Science and Technology (NTNU)</s1><s2>Trondheim</s2><s3>NOR</s3><sZ>32 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation><inist:fA14 i1="25"><s1>IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory</s1><s2>San Giovanni Rotondo</s2><s3>ITA</s3><sZ>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name><affiliation><inist:fA14 i1="25"><s1>IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory</s1><s2>San Giovanni Rotondo</s2><s3>ITA</s3><sZ>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name></author><author><name sortKey="Ferrarese, Carlo" sort="Ferrarese, Carlo" uniqKey="Ferrarese C" first="Carlo" last="Ferrarese">Carlo Ferrarese</name></author><author><name sortKey="Brighina, Laura" sort="Brighina, Laura" uniqKey="Brighina L" first="Laura" last="Brighina">Laura Brighina</name></author><author><name sortKey="Deutschl Nder, Angela" sort="Deutschl Nder, Angela" uniqKey="Deutschl Nder A" first="Angela" last="Deutschl Nder">Angela Deutschl Nder</name></author><author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name></author><author><name sortKey="Nilsson, Christer" sort="Nilsson, Christer" uniqKey="Nilsson C" first="Christer" last="Nilsson">Christer Nilsson</name></author><author><name sortKey="Garraux, Gaetan" sort="Garraux, Gaetan" uniqKey="Garraux G" first="Gaëtan" last="Garraux">Gaëtan Garraux</name></author><author><name sortKey="Le Doux, Mark S" sort="Le Doux, Mark S" uniqKey="Le Doux M" first="Mark S." last="Le Doux">Mark S. Le Doux</name></author><author><name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name></author><author><name sortKey="Boczarska Jedynak, Magdalena" sort="Boczarska Jedynak, Magdalena" uniqKey="Boczarska Jedynak M" first="Magdalena" last="Boczarska-Jedynak">Magdalena Boczarska-Jedynak</name></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name></author><author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name></author><author><name sortKey="Engelborghs, Sebastian" sort="Engelborghs, Sebastian" uniqKey="Engelborghs S" first="Sebastian" last="Engelborghs">Sebastian Engelborghs</name><affiliation><inist:fA14 i1="04"><s1>Department of Neurology and Memory Clinic , Hospital Network Antwerp, Middelheim and Hoge Beuken</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>48 aut.</sZ><sZ>49 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="De Deyn, Peter Paul" sort="De Deyn, Peter Paul" uniqKey="De Deyn P" first="Peter Paul" last="De Deyn">Peter Paul De Deyn</name><affiliation><inist:fA14 i1="04"><s1>Department of Neurology and Memory Clinic , Hospital Network Antwerp, Middelheim and Hoge Beuken</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>48 aut.</sZ><sZ>49 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="05"><s1>Department of Neurology and Alzheimer Research Center, Universiry of Groningen and University Medical Center Groningen</s1><s3>NLD</s3><sZ>49 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Cras, Patrick" sort="Cras, Patrick" uniqKey="Cras P" first="Patrick" last="Cras">Patrick Cras</name></author><author><name sortKey="Cruts, Marc" sort="Cruts, Marc" uniqKey="Cruts M" first="Marc" last="Cruts">Marc Cruts</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">15-0006093</idno><date when="2014">2014</date><idno type="stanalyst">PASCAL 15-0006093 INIST</idno><idno type="RBID">Pascal:15-0006093</idno><idno type="wicri:Area/PascalFrancis/Corpus">000003</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Global investigation and meta-analysis of the C9orf72 (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeat in Parkinson disease</title><author><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Verstraeten, Aline" sort="Verstraeten, Aline" uniqKey="Verstraeten A" first="Aline" last="Verstraeten">Aline Verstraeten</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Sleegers, Kristel" sort="Sleegers, Kristel" uniqKey="Sleegers K" first="Kristel" last="Sleegers">Kristel Sleegers</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wauters, Eline" sort="Wauters, Eline" uniqKey="Wauters E" first="Eline" last="Wauters">Eline Wauters</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Gijselinck, Ilse" sort="Gijselinck, Ilse" uniqKey="Gijselinck I" first="Ilse" last="Gijselinck">Ilse Gijselinck</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Smolders, Stefanie" sort="Smolders, Stefanie" uniqKey="Smolders S" first="Stefanie" last="Smolders">Stefanie Smolders</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="03"><s1>Department of Neurology, Antwerp University Hospital</s1><s2>Edegem</s2><s3>BEL</s3><sZ>7 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Corsmit, Ellen" sort="Corsmit, Ellen" uniqKey="Corsmit E" first="Ellen" last="Corsmit">Ellen Corsmit</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Elinck, Ellen" sort="Elinck, Ellen" uniqKey="Elinck E" first="Ellen" last="Elinck">Ellen Elinck</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name><affiliation><inist:fA14 i1="06"><s1>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and DZNE-German Center for Neurodegenerative Diseases</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="07"><s1>Institute for Clinical Epidemiology and Applied Biometry, University of Tuebingen</s1><s3>DEU</s3><sZ>10 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name><affiliation><inist:fA14 i1="06"><s1>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and DZNE-German Center for Neurodegenerative Diseases</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><inist:fA14 i1="08"><s1>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtrière Hospital</s1><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="09"><s1>CNRS, UMR 7225</s1><s2>Paris</s2><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><inist:fA14 i1="08"><s1>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtrière Hospital</s1><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="09"><s1>CNRS, UMR 7225</s1><s2>Paris</s2><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="10"><s1>AP-HP, Pitiê-Salpêtrière Hospital, Department of Genetics and Cytogenetics</s1><s2>Paris</s2><s3>FRA</s3><sZ>13 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Sun Ju Chung" sort="Sun Ju Chung" uniqKey="Sun Ju Chung" last="Sun Ju Chung">SUN JU CHUNG</name><affiliation><inist:fA14 i1="11"><s1>Department of Neurology , Asan Medical Center, University of Ulsan College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Kim, Mi Jung" sort="Kim, Mi Jung" uniqKey="Kim M" first="Mi-Jung" last="Kim">Mi-Jung Kim</name><affiliation><inist:fA14 i1="11"><s1>Department of Neurology , Asan Medical Center, University of Ulsan College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Young Jin Kim" sort="Young Jin Kim" uniqKey="Young Jin Kim" last="Young Jin Kim">YOUNG JIN KIM</name><affiliation><inist:fA14 i1="11"><s1>Department of Neurology , Asan Medical Center, University of Ulsan College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><inist:fA14 i1="12"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>17 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><inist:fA14 i1="13"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation><inist:fA14 i1="14"><s1>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto</s1><s3>CAN</s3><sZ>19 aut.</sZ><sZ>20 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Zhengrui Xi" sort="Zhengrui Xi" uniqKey="Zhengrui Xi" last="Zhengrui Xi">ZHENGRUI XI</name><affiliation><inist:fA14 i1="14"><s1>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto</s1><s3>CAN</s3><sZ>19 aut.</sZ><sZ>20 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation><inist:fA14 i1="15"><s1>Toronto Western Hospital Research Institute, University Health Network</s1><s2>Toronto</s2><s3>CAN</s3><sZ>21 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><inist:fA14 i1="16"><s1>Institute of Neurogenetics, University of Luebeck</s1><s3>DEU</s3><sZ>22 aut.</sZ><sZ>23 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Weissbach, Anne" sort="Weissbach, Anne" uniqKey="Weissbach A" first="Anne" last="Weissbach">Anne Weissbach</name><affiliation><inist:fA14 i1="16"><s1>Institute of Neurogenetics, University of Luebeck</s1><s3>DEU</s3><sZ>22 aut.</sZ><sZ>23 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name></author><author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name><affiliation><inist:fA14 i1="18"><s1>University of Queensland, Centre for Clinical Research</s1><s2>Queensland</s2><s3>AUS</s3><sZ>25 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name><affiliation><inist:fA14 i1="17"><s1>Eskitis Institute for Drug Discovery, Griffith University</s1><s2>Queensland</s2><s3>AUS</s3><sZ>26 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Dardiotis, Efthimios" sort="Dardiotis, Efthimios" uniqKey="Dardiotis E" first="Efthimios" last="Dardiotis">Efthimios Dardiotis</name><affiliation><inist:fA14 i1="19"><s1>Department of Neurology, Neuroscience Unit, Faculty of Medicine, School of Health Sciences, University of Thessaly</s1><s2>Larissa</s2><s3>GRC</s3><sZ>27 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><inist:fA14 i1="20"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>28 aut.</sZ><sZ>29 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><affiliation><inist:fA14 i1="20"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>28 aut.</sZ><sZ>29 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name><affiliation><inist:fA14 i1="21"><s1>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</s1><s3>SGP</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="22"><s1>Duke NUS Graduate Medical School</s1><s3>SGP</s3><sZ>30 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Yi Zhao" sort="Yi Zhao" uniqKey="Yi Zhao" last="Yi Zhao">YI ZHAO</name><affiliation><inist:fA14 i1="21"><s1>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</s1><s3>SGP</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Aasly, Jan" sort="Aasly, Jan" uniqKey="Aasly J" first="Jan" last="Aasly">Jan Aasly</name><affiliation><inist:fA14 i1="23"><s1>Department of Neurology, St. Olav's Hospital</s1><s2>Trondheim</s2><s3>NOR</s3><sZ>32 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="24"><s1>Department of Neuroscience, Norwegian University of Science and Technology (NTNU)</s1><s2>Trondheim</s2><s3>NOR</s3><sZ>32 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation><inist:fA14 i1="25"><s1>IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory</s1><s2>San Giovanni Rotondo</s2><s3>ITA</s3><sZ>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name><affiliation><inist:fA14 i1="25"><s1>IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory</s1><s2>San Giovanni Rotondo</s2><s3>ITA</s3><sZ>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name></author><author><name sortKey="Ferrarese, Carlo" sort="Ferrarese, Carlo" uniqKey="Ferrarese C" first="Carlo" last="Ferrarese">Carlo Ferrarese</name></author><author><name sortKey="Brighina, Laura" sort="Brighina, Laura" uniqKey="Brighina L" first="Laura" last="Brighina">Laura Brighina</name></author><author><name sortKey="Deutschl Nder, Angela" sort="Deutschl Nder, Angela" uniqKey="Deutschl Nder A" first="Angela" last="Deutschl Nder">Angela Deutschl Nder</name></author><author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name></author><author><name sortKey="Nilsson, Christer" sort="Nilsson, Christer" uniqKey="Nilsson C" first="Christer" last="Nilsson">Christer Nilsson</name></author><author><name sortKey="Garraux, Gaetan" sort="Garraux, Gaetan" uniqKey="Garraux G" first="Gaëtan" last="Garraux">Gaëtan Garraux</name></author><author><name sortKey="Le Doux, Mark S" sort="Le Doux, Mark S" uniqKey="Le Doux M" first="Mark S." last="Le Doux">Mark S. Le Doux</name></author><author><name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name></author><author><name sortKey="Boczarska Jedynak, Magdalena" sort="Boczarska Jedynak, Magdalena" uniqKey="Boczarska Jedynak M" first="Magdalena" last="Boczarska-Jedynak">Magdalena Boczarska-Jedynak</name></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name></author><author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name></author><author><name sortKey="Engelborghs, Sebastian" sort="Engelborghs, Sebastian" uniqKey="Engelborghs S" first="Sebastian" last="Engelborghs">Sebastian Engelborghs</name><affiliation><inist:fA14 i1="04"><s1>Department of Neurology and Memory Clinic , Hospital Network Antwerp, Middelheim and Hoge Beuken</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>48 aut.</sZ><sZ>49 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="De Deyn, Peter Paul" sort="De Deyn, Peter Paul" uniqKey="De Deyn P" first="Peter Paul" last="De Deyn">Peter Paul De Deyn</name><affiliation><inist:fA14 i1="04"><s1>Department of Neurology and Memory Clinic , Hospital Network Antwerp, Middelheim and Hoge Beuken</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>48 aut.</sZ><sZ>49 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="05"><s1>Department of Neurology and Alzheimer Research Center, Universiry of Groningen and University Medical Center Groningen</s1><s3>NLD</s3><sZ>49 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Cras, Patrick" sort="Cras, Patrick" uniqKey="Cras P" first="Patrick" last="Cras">Patrick Cras</name></author><author><name sortKey="Cruts, Marc" sort="Cruts, Marc" uniqKey="Cruts M" first="Marc" last="Cruts">Marc Cruts</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name><affiliation><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></inist:fA14></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="2014">2014</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>Parkinson disease</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objectives: The objective of this study is to clarify the role of (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort. Methods: C9orf72 (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia. Results: A pathogenic (G<sub>4</sub>C<sub>2</sub>)<sub>n>60</sub> expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeats; however, we could not detect a robust association between the C9orf72 (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeat and PD, and the population attributable risk was low. Conclusions: Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0028-3878</s0></fA01><fA02 i1="01"><s0>NEURAI</s0></fA02><fA03 i2="1"><s0>Neurology</s0></fA03><fA05><s2>83</s2></fA05><fA06><s2>21</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Global investigation and meta-analysis of the C9orf72 (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeat in Parkinson disease</s1></fA08><fA11 i1="01" i2="1"><s1>THEUNS (Jessie)</s1></fA11><fA11 i1="02" i2="1"><s1>VERSTRAETEN (Aline)</s1></fA11><fA11 i1="03" i2="1"><s1>SLEEGERS (Kristel)</s1></fA11><fA11 i1="04" i2="1"><s1>WAUTERS (Eline)</s1></fA11><fA11 i1="05" i2="1"><s1>GIJSELINCK (Ilse)</s1></fA11><fA11 i1="06" i2="1"><s1>SMOLDERS (Stefanie)</s1></fA11><fA11 i1="07" i2="1"><s1>CROSIERS (David)</s1></fA11><fA11 i1="08" i2="1"><s1>CORSMIT (Ellen)</s1></fA11><fA11 i1="09" i2="1"><s1>ELINCK (Ellen)</s1></fA11><fA11 i1="10" i2="1"><s1>SHARMA (Manu)</s1></fA11><fA11 i1="11" i2="1"><s1>KRÜGER (Rejko)</s1></fA11><fA11 i1="12" i2="1"><s1>LESAGE (Suzanne)</s1></fA11><fA11 i1="13" i2="1"><s1>BRICE (Alexis)</s1></fA11><fA11 i1="14" i2="1"><s1>SUN JU CHUNG</s1></fA11><fA11 i1="15" i2="1"><s1>KIM (Mi-Jung)</s1></fA11><fA11 i1="16" i2="1"><s1>YOUNG JIN KIM</s1></fA11><fA11 i1="17" i2="1"><s1>ROSS (Owen A.)</s1></fA11><fA11 i1="18" i2="1"><s1>WSZOLEK (Zbigniew K.)</s1></fA11><fA11 i1="19" i2="1"><s1>ROGAEVA (Ekaterina)</s1></fA11><fA11 i1="20" i2="1"><s1>ZHENGRUI XI</s1></fA11><fA11 i1="21" i2="1"><s1>LANG (Anthony E.)</s1></fA11><fA11 i1="22" i2="1"><s1>KLEIN (Christine)</s1></fA11><fA11 i1="23" i2="1"><s1>WEISSBACH (Anne)</s1></fA11><fA11 i1="24" i2="1"><s1>MELLICK (George D.)</s1></fA11><fA11 i1="25" i2="1"><s1>SILBURN (Peter A.)</s1></fA11><fA11 i1="26" i2="1"><s1>HADJIGEORGIOU (Georgios M.)</s1></fA11><fA11 i1="27" i2="1"><s1>DARDIOTIS (Efthimios)</s1></fA11><fA11 i1="28" i2="1"><s1>HATTORI (Nobutaka)</s1></fA11><fA11 i1="29" i2="1"><s1>OGAKI (Kotaro)</s1></fA11><fA11 i1="30" i2="1"><s1>TAN (Eng-King)</s1></fA11><fA11 i1="31" i2="1"><s1>YI ZHAO</s1></fA11><fA11 i1="32" i2="1"><s1>AASLY (Jan)</s1></fA11><fA11 i1="33" i2="1"><s1>VALENTE (Enza Maria)</s1></fA11><fA11 i1="34" i2="1"><s1>PETRUCCI (Simona)</s1></fA11><fA11 i1="35" i2="1"><s1>ANNESI (Grazia)</s1></fA11><fA11 i1="36" i2="1"><s1>QUATTRONE (Aldo)</s1></fA11><fA11 i1="37" i2="1"><s1>FERRARESE (Carlo)</s1></fA11><fA11 i1="38" i2="1"><s1>BRIGHINA (Laura)</s1></fA11><fA11 i1="39" i2="1"><s1>DEUTSCHLÄNDER (Angela)</s1></fA11><fA11 i1="40" i2="1"><s1>PUSCHMANN (Andreas)</s1></fA11><fA11 i1="41" i2="1"><s1>NILSSON (Christer)</s1></fA11><fA11 i1="42" i2="1"><s1>GARRAUX (Gaëtan)</s1></fA11><fA11 i1="43" i2="1"><s1>LE DOUX (Mark S.)</s1></fA11><fA11 i1="44" i2="1"><s1>PFEIFFER (Ronald F.)</s1></fA11><fA11 i1="45" i2="1"><s1>BOCZARSKA-JEDYNAK (Magdalena)</s1></fA11><fA11 i1="46" i2="1"><s1>OPALA (Grzegorz)</s1></fA11><fA11 i1="47" i2="1"><s1>MARAGANORE (Demetrius M.)</s1></fA11><fA11 i1="48" i2="1"><s1>ENGELBORGHS (Sebastian)</s1></fA11><fA11 i1="49" i2="1"><s1>DE DEYN (Peter Paul)</s1></fA11><fA11 i1="50" i2="1"><s1>CRAS (Patrick)</s1></fA11><fA11 i1="51" i2="1"><s1>CRUTS (Marc)</s1></fA11><fA11 i1="52" i2="1"><s1>VAN BROECKHOVEN (Christine)</s1></fA11><fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>51 aut.</sZ><sZ>52 aut.</sZ></fA14><fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Neurology, Antwerp University Hospital</s1><s2>Edegem</s2><s3>BEL</s3><sZ>7 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology and Memory Clinic , Hospital Network Antwerp, Middelheim and Hoge Beuken</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>48 aut.</sZ><sZ>49 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Neurology and Alzheimer Research Center, Universiry of Groningen and University Medical Center Groningen</s1><s3>NLD</s3><sZ>49 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and DZNE-German Center for Neurodegenerative Diseases</s1><s2>Tuebingen</s2><s3>DEU</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ></fA14><fA14 i1="07"><s1>Institute for Clinical Epidemiology and Applied Biometry, University of Tuebingen</s1><s3>DEU</s3><sZ>10 aut.</sZ></fA14><fA14 i1="08"><s1>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtrière Hospital</s1><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="09"><s1>CNRS, UMR 7225</s1><s2>Paris</s2><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="10"><s1>AP-HP, Pitiê-Salpêtrière Hospital, Department of Genetics and Cytogenetics</s1><s2>Paris</s2><s3>FRA</s3><sZ>13 aut.</sZ></fA14><fA14 i1="11"><s1>Department of Neurology , Asan Medical Center, University of Ulsan College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></fA14><fA14 i1="12"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>17 aut.</sZ></fA14><fA14 i1="13"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>18 aut.</sZ></fA14><fA14 i1="14"><s1>Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto</s1><s3>CAN</s3><sZ>19 aut.</sZ><sZ>20 aut.</sZ></fA14><fA14 i1="15"><s1>Toronto Western Hospital Research Institute, University Health Network</s1><s2>Toronto</s2><s3>CAN</s3><sZ>21 aut.</sZ></fA14><fA14 i1="16"><s1>Institute of Neurogenetics, University of Luebeck</s1><s3>DEU</s3><sZ>22 aut.</sZ><sZ>23 aut.</sZ></fA14><fA14 i1="17"><s1>Eskitis Institute for Drug Discovery, Griffith University</s1><s2>Queensland</s2><s3>AUS</s3><sZ>26 aut.</sZ></fA14><fA14 i1="18"><s1>University of Queensland, Centre for Clinical Research</s1><s2>Queensland</s2><s3>AUS</s3><sZ>25 aut.</sZ></fA14><fA14 i1="19"><s1>Department of Neurology, Neuroscience Unit, Faculty of Medicine, School of Health Sciences, University of Thessaly</s1><s2>Larissa</s2><s3>GRC</s3><sZ>27 aut.</sZ></fA14><fA14 i1="20"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>28 aut.</sZ><sZ>29 aut.</sZ></fA14><fA14 i1="21"><s1>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</s1><s3>SGP</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></fA14><fA14 i1="22"><s1>Duke NUS Graduate Medical School</s1><s3>SGP</s3><sZ>30 aut.</sZ></fA14><fA14 i1="23"><s1>Department of Neurology, St. Olav's Hospital</s1><s2>Trondheim</s2><s3>NOR</s3><sZ>32 aut.</sZ></fA14><fA14 i1="24"><s1>Department of Neuroscience, Norwegian University of Science and Technology (NTNU)</s1><s2>Trondheim</s2><s3>NOR</s3><sZ>32 aut.</sZ></fA14><fA14 i1="25"><s1>IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory</s1><s2>San Giovanni Rotondo</s2><s3>ITA</s3><sZ>33 aut.</sZ><sZ>34 aut.</sZ></fA14><fA20><s1>1906-1913</s1></fA20><fA21><s1>2014</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>6345</s2><s5>354000508291500050</s5></fA43><fA44><s0>0000</s0><s1>© 2015 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>30 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>15-0006093</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Neurology</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Objectives: The objective of this study is to clarify the role of (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort. Methods: C9orf72 (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia. Results: A pathogenic (G<sub>4</sub>C<sub>2</sub>)<sub>n>60</sub> expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeats; however, we could not detect a robust association between the C9orf72 (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeat and PD, and the population attributable risk was low. Conclusions: Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17G</s0></fC02><fC02 i1="02" i2="X"><s0>002B17A01</s0></fC02><fC02 i1="03" i2="X"><s0>002B17A03</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Maladie de Parkinson</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>02</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</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>Syndrome extrapyramidal</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>40</s5></fC07><fN21><s1>005</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard><server><NO>PASCAL 15-0006093 INIST</NO><ET>Global investigation and meta-analysis of the C9orf72 (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeat in Parkinson disease</ET><AU>THEUNS (Jessie); VERSTRAETEN (Aline); SLEEGERS (Kristel); WAUTERS (Eline); GIJSELINCK (Ilse); SMOLDERS (Stefanie); CROSIERS (David); CORSMIT (Ellen); ELINCK (Ellen); SHARMA (Manu); KRÜGER (Rejko); LESAGE (Suzanne); BRICE (Alexis); SUN JU CHUNG; KIM (Mi-Jung); YOUNG JIN KIM; ROSS (Owen A.); WSZOLEK (Zbigniew K.); ROGAEVA (Ekaterina); ZHENGRUI XI; LANG (Anthony E.); KLEIN (Christine); WEISSBACH (Anne); MELLICK (George D.); SILBURN (Peter A.); HADJIGEORGIOU (Georgios M.); DARDIOTIS (Efthimios); HATTORI (Nobutaka); OGAKI (Kotaro); TAN (Eng-King); YI ZHAO; AASLY (Jan); VALENTE (Enza Maria); PETRUCCI (Simona); ANNESI (Grazia); QUATTRONE (Aldo); FERRARESE (Carlo); BRIGHINA (Laura); DEUTSCHLÄNDER (Angela); PUSCHMANN (Andreas); NILSSON (Christer); GARRAUX (Gaëtan); LE DOUX (Mark S.); PFEIFFER (Ronald F.); BOCZARSKA-JEDYNAK (Magdalena); OPALA (Grzegorz); MARAGANORE (Demetrius M.); ENGELBORGHS (Sebastian); DE DEYN (Peter Paul); CRAS (Patrick); CRUTS (Marc); VAN BROECKHOVEN (Christine)</AU><AF>Neurodegenerative Brain Diseases Group , Department of Molecular Genetics, VIB/Antwerp/Belgique (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut., 51 aut., 52 aut.); Institute Born-Bunge, University of Antwerp/Belgique (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut.); Department of Neurology, Antwerp University Hospital/Edegem/Belgique (7 aut.); Department of Neurology and Memory Clinic , Hospital Network Antwerp, Middelheim and Hoge Beuken/Antwerp/Belgique (48 aut., 49 aut.); Department of Neurology and Alzheimer Research Center, Universiry of Groningen and University Medical Center Groningen/Pays-Bas (49 aut.); Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and DZNE-German Center for Neurodegenerative Diseases/Tuebingen/Allemagne (10 aut., 11 aut.); Institute for Clinical Epidemiology and Applied Biometry, University of Tuebingen/Allemagne (10 aut.); INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtrière Hospital/France (12 aut., 13 aut.); CNRS, UMR 7225/Paris/France (12 aut., 13 aut.); AP-HP, Pitiê-Salpêtrière Hospital, Department of Genetics and Cytogenetics/Paris/France (13 aut.); Department of Neurology , Asan Medical Center, University of Ulsan College of Medicine/Seoul/Corée, République de (14 aut., 15 aut., 16 aut.); Department of Neuroscience, Mayo Clinic/Jacksonville, FL/Etats-Unis (17 aut.); Department of Neurology, Mayo Clinic/Jacksonville, FL/Etats-Unis (18 aut.); Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto/Canada (19 aut., 20 aut.); Toronto Western Hospital Research Institute, University Health Network/Toronto/Canada (21 aut.); Institute of Neurogenetics, University of Luebeck/Allemagne (22 aut., 23 aut.); Eskitis Institute for Drug Discovery, Griffith University/Queensland/Australie (26 aut.); University of Queensland, Centre for Clinical Research/Queensland/Australie (25 aut.); Department of Neurology, Neuroscience Unit, Faculty of Medicine, School of Health Sciences, University of Thessaly/Larissa/Grèce (27 aut.); Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (28 aut., 29 aut.); Department of Neurology, Singapore General Hospital, National Neuroscience Institute/Singapour (30 aut., 31 aut.); Duke NUS Graduate Medical School/Singapour (30 aut.); Department of Neurology, St. Olav's Hospital/Trondheim/Norvège (32 aut.); Department of Neuroscience, Norwegian University of Science and Technology (NTNU)/Trondheim/Norvège (32 aut.); IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory/San Giovanni Rotondo/Italie (33 aut., 34 aut.)</AF><DT>Publication en série; Niveau analytique</DT><SO>Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2014; Vol. 83; No. 21; Pp. 1906-1913; Bibl. 30 ref.</SO><LA>Anglais</LA><EA>Objectives: The objective of this study is to clarify the role of (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort. Methods: C9orf72 (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia. Results: A pathogenic (G<sub>4</sub>C<sub>2</sub>)<sub>n>60</sub> expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeats; however, we could not detect a robust association between the C9orf72 (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> repeat and PD, and the population attributable risk was low. Conclusions: Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease.</EA><CC>002B17G; 002B17A01; 002B17A03</CC><FD>Maladie de Parkinson; Pathologie du système nerveux</FD><FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central</FG><ED>Parkinson disease; Nervous system diseases</ED><EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG><SD>Parkinson enfermedad; Sistema nervioso patología</SD><LO>INIST-6345.354000508291500050</LO><ID>15-0006093</ID></server></inist></record>Pour manipuler ce document sous Unix (Dilib)
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