La maladie de Parkinson au Canada (serveur d'exploration)

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Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Identifieur interne : 000B99 ( Main/Exploration ); précédent : 000B98; suivant : 000C00

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Auteurs : Jessie Theuns [Belgique] ; Aline Verstraeten [Belgique] ; Kristel Sleegers [Belgique] ; Eline Wauters [Belgique] ; Ilse Gijselinck [Belgique] ; Stefanie Smolders [Belgique] ; David Crosiers [Belgique] ; Ellen Corsmit [Belgique] ; Ellen Elinck [Belgique] ; Manu Sharma [Allemagne] ; Rejko Krüger [Allemagne] ; Suzanne Lesage [France] ; Alexis Brice [France] ; SUN JU CHUNG [Corée du Sud] ; Mi-Jung Kim [Corée du Sud] ; YOUNG JIN KIM [Corée du Sud] ; Owen A. Ross [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Ekaterina Rogaeva [Canada] ; ZHENGRUI XI [Canada] ; Anthony E. Lang [Canada] ; Christine Klein [Allemagne] ; Anne Weissbach [Allemagne] ; George D. Mellick ; Peter A. Silburn [Australie] ; Georgios M. Hadjigeorgiou [Australie] ; Efthimios Dardiotis [Grèce] ; Nobutaka Hattori [Japon] ; Kotaro Ogaki [Japon] ; Eng-King Tan [Singapour] ; YI ZHAO [Singapour] ; Jan Aasly [Norvège] ; Enza Maria Valente [Italie] ; Simona Petrucci [Italie] ; 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 [Belgique] ; Peter Paul De Deyn [Belgique, Pays-Bas] ; Patrick Cras ; Marc Cruts [Belgique] ; Christine Van Broeckhoven [Belgique]

Source :

RBID : Pascal:15-0006093

Descripteurs français

English descriptors

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.


Affiliations:


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<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
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<s1>AP-HP, Pitiê-Salpêtrière Hospital, Department of Genetics and Cytogenetics</s1>
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<country>France</country>
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<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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<author>
<name sortKey="Sun Ju Chung" sort="Sun Ju Chung" uniqKey="Sun Ju Chung" last="Sun Ju Chung">SUN JU CHUNG</name>
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<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>
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<country>Corée du Sud</country>
<placeName>
<settlement type="city">Séoul</settlement>
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<author>
<name sortKey="Kim, Mi Jung" sort="Kim, Mi Jung" uniqKey="Kim M" first="Mi-Jung" last="Kim">Mi-Jung Kim</name>
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<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>
<country>Corée du Sud</country>
<placeName>
<settlement type="city">Séoul</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Young Jin Kim" sort="Young Jin Kim" uniqKey="Young Jin Kim" last="Young Jin Kim">YOUNG JIN KIM</name>
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<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>
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<country>Corée du Sud</country>
<placeName>
<settlement type="city">Séoul</settlement>
</placeName>
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<author>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
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<inist:fA14 i1="12">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
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<author>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="1">
<inist:fA14 i1="13">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
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<author>
<name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
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<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>
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<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="Zhengrui Xi" sort="Zhengrui Xi" uniqKey="Zhengrui Xi" last="Zhengrui Xi">ZHENGRUI XI</name>
<affiliation wicri:level="4">
<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>
<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, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="1">
<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>
<country>Canada</country>
<wicri:noRegion>Toronto</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation wicri:level="1">
<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>
<country>Allemagne</country>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
<wicri:noRegion>Institute of Neurogenetics, University of Luebeck</wicri:noRegion>
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</author>
<author>
<name sortKey="Weissbach, Anne" sort="Weissbach, Anne" uniqKey="Weissbach A" first="Anne" last="Weissbach">Anne Weissbach</name>
<affiliation wicri:level="1">
<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>
<country>Allemagne</country>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
<wicri:noRegion>Institute of Neurogenetics, University of Luebeck</wicri:noRegion>
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</author>
<author>
<name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name>
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<author>
<name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A." last="Silburn">Peter A. Silburn</name>
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<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>
<country>Australie</country>
<wicri:noRegion>Queensland</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
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<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>
<country>Australie</country>
<wicri:noRegion>Queensland</wicri:noRegion>
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<author>
<name sortKey="Dardiotis, Efthimios" sort="Dardiotis, Efthimios" uniqKey="Dardiotis E" first="Efthimios" last="Dardiotis">Efthimios Dardiotis</name>
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<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>
<country>Grèce</country>
<wicri:noRegion>Larissa</wicri:noRegion>
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</author>
<author>
<name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<inist:fA14 i1="20">
<s1>Department of Neurology, Juntendo University School of Medicine</s1>
<s2>Tokyo</s2>
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<sZ>28 aut.</sZ>
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<country>Japon</country>
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<name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
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<inist:fA14 i1="20">
<s1>Department of Neurology, Juntendo University School of Medicine</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>28 aut.</sZ>
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</inist:fA14>
<country>Japon</country>
<placeName>
<settlement type="city">Tokyo</settlement>
</placeName>
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<author>
<name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name>
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<s1>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</s1>
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</inist:fA14>
<country>Singapour</country>
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<s1>Duke NUS Graduate Medical School</s1>
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<sZ>30 aut.</sZ>
</inist:fA14>
<country>Singapour</country>
<wicri:noRegion>Duke NUS Graduate Medical School</wicri:noRegion>
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<author>
<name sortKey="Yi Zhao" sort="Yi Zhao" uniqKey="Yi Zhao" last="Yi Zhao">YI ZHAO</name>
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<s1>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</s1>
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<country>Singapour</country>
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<s1>Department of Neurology, St. Olav's Hospital</s1>
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<country>Norvège</country>
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<s1>Department of Neuroscience, Norwegian University of Science and Technology (NTNU)</s1>
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</inist:fA14>
<country>Norvège</country>
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<settlement type="city">Trondheim</settlement>
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<s1>IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory</s1>
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<country>Italie</country>
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<s1>IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Laboratory</s1>
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<country>Italie</country>
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<author>
<name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name>
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<author>
<name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
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<author>
<name sortKey="Ferrarese, Carlo" sort="Ferrarese, Carlo" uniqKey="Ferrarese C" first="Carlo" last="Ferrarese">Carlo Ferrarese</name>
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<author>
<name sortKey="Brighina, Laura" sort="Brighina, Laura" uniqKey="Brighina L" first="Laura" last="Brighina">Laura Brighina</name>
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<author>
<name sortKey="Deutschl Nder, Angela" sort="Deutschl Nder, Angela" uniqKey="Deutschl Nder A" first="Angela" last="Deutschl Nder">Angela Deutschl Nder</name>
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<name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
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<name sortKey="Nilsson, Christer" sort="Nilsson, Christer" uniqKey="Nilsson C" first="Christer" last="Nilsson">Christer Nilsson</name>
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<name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
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<s1>Department of Neurology and Memory Clinic , Hospital Network Antwerp, Middelheim and Hoge Beuken</s1>
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<sZ>48 aut.</sZ>
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<country>Belgique</country>
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<s1>Department of Neurology and Alzheimer Research Center, Universiry of Groningen and University Medical Center Groningen</s1>
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<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4">
<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>
<country>Belgique</country>
<placeName>
<settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
<orgName type="university">Université d'Anvers</orgName>
</affiliation>
</author>
<author>
<name sortKey="Sleegers, Kristel" sort="Sleegers, Kristel" uniqKey="Sleegers K" first="Kristel" last="Sleegers">Kristel Sleegers</name>
<affiliation wicri:level="1">
<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4">
<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>
<country>Belgique</country>
<placeName>
<settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
<orgName type="university">Université d'Anvers</orgName>
</affiliation>
</author>
<author>
<name sortKey="Wauters, Eline" sort="Wauters, Eline" uniqKey="Wauters E" first="Eline" last="Wauters">Eline Wauters</name>
<affiliation wicri:level="1">
<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4">
<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>
<country>Belgique</country>
<placeName>
<settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
<orgName type="university">Université d'Anvers</orgName>
</affiliation>
</author>
<author>
<name sortKey="Gijselinck, Ilse" sort="Gijselinck, Ilse" uniqKey="Gijselinck I" first="Ilse" last="Gijselinck">Ilse Gijselinck</name>
<affiliation wicri:level="1">
<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4">
<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>
<country>Belgique</country>
<placeName>
<settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
<orgName type="university">Université d'Anvers</orgName>
</affiliation>
</author>
<author>
<name sortKey="Smolders, Stefanie" sort="Smolders, Stefanie" uniqKey="Smolders S" first="Stefanie" last="Smolders">Stefanie Smolders</name>
<affiliation wicri:level="1">
<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4">
<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>
<country>Belgique</country>
<placeName>
<settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
<orgName type="university">Université d'Anvers</orgName>
</affiliation>
</author>
<author>
<name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name>
<affiliation wicri:level="1">
<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4">
<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>
<country>Belgique</country>
<placeName>
<settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
<orgName type="university">Université d'Anvers</orgName>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="03">
<s1>Department of Neurology, Antwerp University Hospital</s1>
<s2>Edegem</s2>
<s3>BEL</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>Edegem</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Corsmit, Ellen" sort="Corsmit, Ellen" uniqKey="Corsmit E" first="Ellen" last="Corsmit">Ellen Corsmit</name>
<affiliation wicri:level="1">
<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4">
<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>
<country>Belgique</country>
<placeName>
<settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
<orgName type="university">Université d'Anvers</orgName>
</affiliation>
</author>
<author>
<name sortKey="Elinck, Ellen" sort="Elinck, Ellen" uniqKey="Elinck E" first="Ellen" last="Elinck">Ellen Elinck</name>
<affiliation wicri:level="1">
<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4">
<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>
<country>Belgique</country>
<placeName>
<settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
<orgName type="university">Université d'Anvers</orgName>
</affiliation>
</author>
<author>
<name sortKey="Sharma, Manu" sort="Sharma, Manu" uniqKey="Sharma M" first="Manu" last="Sharma">Manu Sharma</name>
<affiliation wicri:level="3">
<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>
<country>Allemagne</country>
<placeName>
<region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1">
<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>
<country>Allemagne</country>
<wicri:noRegion>University of Tuebingen</wicri:noRegion>
<wicri:noRegion>Institute for Clinical Epidemiology and Applied Biometry, University of Tuebingen</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Kruger, Rejko" sort="Kruger, Rejko" uniqKey="Kruger R" first="Rejko" last="Krüger">Rejko Krüger</name>
<affiliation wicri:level="3">
<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>
<country>Allemagne</country>
<placeName>
<region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</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="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>
<country>France</country>
<wicri:noRegion>Pitié-Salpêtrière Hospital</wicri:noRegion>
<wicri:noRegion>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtrière Hospital</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3">
<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>
<country>France</country>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</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="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>
<country>France</country>
<wicri:noRegion>Pitié-Salpêtrière Hospital</wicri:noRegion>
<wicri:noRegion>INSERM, UMR_S975, Université Pierre et Marie Curie-Paris, CNRS, UMR 7225, AP-HP, Pitié-Salpêtrière Hospital</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3">
<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>
<country>France</country>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3">
<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>
<country>France</country>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</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 wicri:level="3">
<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>
<country>Corée du Sud</country>
<placeName>
<settlement type="city">Séoul</settlement>
</placeName>
</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 wicri:level="3">
<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>
<country>Corée du Sud</country>
<placeName>
<settlement type="city">Séoul</settlement>
</placeName>
</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 wicri:level="3">
<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>
<country>Corée du Sud</country>
<placeName>
<settlement type="city">Séoul</settlement>
</placeName>
</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 wicri:level="1">
<inist:fA14 i1="12">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</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 wicri:level="1">
<inist:fA14 i1="13">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<affiliation wicri:level="4">
<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>
<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="Zhengrui Xi" sort="Zhengrui Xi" uniqKey="Zhengrui Xi" last="Zhengrui Xi">ZHENGRUI XI</name>
<affiliation wicri:level="4">
<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>
<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, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="1">
<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>
<country>Canada</country>
<wicri:noRegion>Toronto</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation wicri:level="1">
<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>
<country>Allemagne</country>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
<wicri:noRegion>Institute of Neurogenetics, University of Luebeck</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Weissbach, Anne" sort="Weissbach, Anne" uniqKey="Weissbach A" first="Anne" last="Weissbach">Anne Weissbach</name>
<affiliation wicri:level="1">
<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>
<country>Allemagne</country>
<wicri:noRegion>University of Luebeck</wicri:noRegion>
<wicri:noRegion>Institute of Neurogenetics, University of Luebeck</wicri:noRegion>
</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 wicri:level="1">
<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>
<country>Australie</country>
<wicri:noRegion>Queensland</wicri:noRegion>
</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 wicri:level="1">
<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>
<country>Australie</country>
<wicri:noRegion>Queensland</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Dardiotis, Efthimios" sort="Dardiotis, Efthimios" uniqKey="Dardiotis E" first="Efthimios" last="Dardiotis">Efthimios Dardiotis</name>
<affiliation wicri:level="1">
<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>
<country>Grèce</country>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation wicri:level="3">
<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>
<country>Japon</country>
<placeName>
<settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
<affiliation wicri:level="3">
<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>
<country>Japon</country>
<placeName>
<settlement type="city">Tokyo</settlement>
</placeName>
</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 wicri:level="1">
<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>
<country>Singapour</country>
<wicri:noRegion>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="22">
<s1>Duke NUS Graduate Medical School</s1>
<s3>SGP</s3>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>Singapour</country>
<wicri:noRegion>Duke NUS Graduate Medical School</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Yi Zhao" sort="Yi Zhao" uniqKey="Yi Zhao" last="Yi Zhao">YI ZHAO</name>
<affiliation wicri:level="1">
<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>
<country>Singapour</country>
<wicri:noRegion>Department of Neurology, Singapore General Hospital, National Neuroscience Institute</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Aasly, Jan" sort="Aasly, Jan" uniqKey="Aasly J" first="Jan" last="Aasly">Jan Aasly</name>
<affiliation wicri:level="3">
<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>
<country>Norvège</country>
<placeName>
<settlement type="city">Trondheim</settlement>
<region type="région" nuts="2">Trøndelag</region>
</placeName>
</affiliation>
<affiliation wicri:level="3">
<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>
<country>Norvège</country>
<placeName>
<settlement type="city">Trondheim</settlement>
<region type="région" nuts="2">Trøndelag</region>
</placeName>
</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 wicri:level="1">
<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>
<country>Italie</country>
<wicri:noRegion>San Giovanni Rotondo</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name>
<affiliation wicri:level="1">
<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>
<country>Italie</country>
<wicri:noRegion>San Giovanni Rotondo</wicri:noRegion>
</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 wicri:level="1">
<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</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 wicri:level="1">
<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<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>
<country>Pays-Bas</country>
<wicri:noRegion>Department of Neurology and Alzheimer Research Center, Universiry of Groningen and University Medical Center Groningen</wicri:noRegion>
</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 wicri:level="1">
<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</wicri:noRegion>
</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 wicri:level="1">
<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>
<country>Belgique</country>
<wicri:noRegion>Antwerp</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="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>
<affiliations>
<list>
<country>
<li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>Canada</li>
<li>Corée du Sud</li>
<li>France</li>
<li>Grèce</li>
<li>Italie</li>
<li>Japon</li>
<li>Norvège</li>
<li>Pays-Bas</li>
<li>Singapour</li>
<li>États-Unis</li>
</country>
<region>
<li>Bade-Wurtemberg</li>
<li>District de Tübingen</li>
<li>Ontario</li>
<li>Province d'Anvers</li>
<li>Région flamande</li>
<li>Trøndelag</li>
<li>Île-de-France</li>
</region>
<settlement>
<li>Anvers</li>
<li>Paris</li>
<li>Séoul</li>
<li>Tokyo</li>
<li>Toronto</li>
<li>Trondheim</li>
<li>Tübingen</li>
</settlement>
<orgName>
<li>Université d'Anvers</li>
<li>Université de Toronto</li>
</orgName>
</list>
<tree>
<noCountry>
<name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name>
<name sortKey="Boczarska Jedynak, Magdalena" sort="Boczarska Jedynak, Magdalena" uniqKey="Boczarska Jedynak M" first="Magdalena" last="Boczarska-Jedynak">Magdalena Boczarska-Jedynak</name>
<name sortKey="Brighina, Laura" sort="Brighina, Laura" uniqKey="Brighina L" first="Laura" last="Brighina">Laura Brighina</name>
<name sortKey="Cras, Patrick" sort="Cras, Patrick" uniqKey="Cras P" first="Patrick" last="Cras">Patrick Cras</name>
<name sortKey="Deutschl Nder, Angela" sort="Deutschl Nder, Angela" uniqKey="Deutschl Nder A" first="Angela" last="Deutschl Nder">Angela Deutschl Nder</name>
<name sortKey="Ferrarese, Carlo" sort="Ferrarese, Carlo" uniqKey="Ferrarese C" first="Carlo" last="Ferrarese">Carlo Ferrarese</name>
<name sortKey="Garraux, Gaetan" sort="Garraux, Gaetan" uniqKey="Garraux G" first="Gaëtan" last="Garraux">Gaëtan Garraux</name>
<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>
<name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name>
<name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name>
<name sortKey="Nilsson, Christer" sort="Nilsson, Christer" uniqKey="Nilsson C" first="Christer" last="Nilsson">Christer Nilsson</name>
<name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name>
<name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
<name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
</noCountry>
<country name="Belgique">
<noRegion>
<name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name>
</noRegion>
<name sortKey="Corsmit, Ellen" sort="Corsmit, Ellen" uniqKey="Corsmit E" first="Ellen" last="Corsmit">Ellen Corsmit</name>
<name sortKey="Corsmit, Ellen" sort="Corsmit, Ellen" uniqKey="Corsmit E" first="Ellen" last="Corsmit">Ellen Corsmit</name>
<name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name>
<name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name>
<name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name>
<name sortKey="Cruts, Marc" sort="Cruts, Marc" uniqKey="Cruts M" first="Marc" last="Cruts">Marc Cruts</name>
<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>
<name sortKey="Elinck, Ellen" sort="Elinck, Ellen" uniqKey="Elinck E" first="Ellen" last="Elinck">Ellen Elinck</name>
<name sortKey="Elinck, Ellen" sort="Elinck, Ellen" uniqKey="Elinck E" first="Ellen" last="Elinck">Ellen Elinck</name>
<name sortKey="Engelborghs, Sebastian" sort="Engelborghs, Sebastian" uniqKey="Engelborghs S" first="Sebastian" last="Engelborghs">Sebastian Engelborghs</name>
<name sortKey="Gijselinck, Ilse" sort="Gijselinck, Ilse" uniqKey="Gijselinck I" first="Ilse" last="Gijselinck">Ilse Gijselinck</name>
<name sortKey="Gijselinck, Ilse" sort="Gijselinck, Ilse" uniqKey="Gijselinck I" first="Ilse" last="Gijselinck">Ilse Gijselinck</name>
<name sortKey="Sleegers, Kristel" sort="Sleegers, Kristel" uniqKey="Sleegers K" first="Kristel" last="Sleegers">Kristel Sleegers</name>
<name sortKey="Sleegers, Kristel" sort="Sleegers, Kristel" uniqKey="Sleegers K" first="Kristel" last="Sleegers">Kristel Sleegers</name>
<name sortKey="Smolders, Stefanie" sort="Smolders, Stefanie" uniqKey="Smolders S" first="Stefanie" last="Smolders">Stefanie Smolders</name>
<name sortKey="Smolders, Stefanie" sort="Smolders, Stefanie" uniqKey="Smolders S" first="Stefanie" last="Smolders">Stefanie Smolders</name>
<name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name>
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