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@ARTICLE{Theuns:141377,
      author       = {Theuns, Jessie and Verstraeten, Aline and Sleegers, Kristel
                      and Wauters, Eline and Gijselinck, Ilse and Smolders,
                      Stefanie and Crosiers, David and Corsmit, Ellen and Elinck,
                      Ellen and Sharma, Manu and Krüger, Rejko and Lesage,
                      Suzanne and Brice, Alexis and Chung, Sun Ju and Kim, Mi-Jung
                      and Kim, Young Jin and Ross, Owen A and Wszolek, Zbigniew K
                      and Rogaeva, Ekaterina and Xi, Zhengrui and Lang, Anthony E
                      and Klein, Christine and Weissbach, Anne and Mellick, George
                      D and Silburn, Peter A and Hadjigeorgiou, Georgios M and
                      Dardiotis, Efthimios and Hattori, Nobutaka and Ogaki, Kotaro
                      and Tan, Eng-King and Zhao, Yi and Aasly, Jan and Valente,
                      Enza Maria and Petrucci, Simona and Annesi, Grazia and
                      Quattrone, Aldo and Ferrarese, Carlo and Brighina, Laura and
                      Deutschländer, Angela and Puschmann, Andreas and Nilsson,
                      Christer and Garraux, Gaëtan and LeDoux, Mark S and
                      Pfeiffer, Ronald F and Boczarska-Jedynak, Magdalena and
                      Opala, Grzegorz and Maraganore, Demetrius M and Engelborghs,
                      Sebastiaan and De Deyn, Peter Paul and Cras, Patrick and
                      Cruts, Marc and Van Broeckhoven, Christine and Consortium,
                      GEO-PD and Maraganore, Demetrius M and Farrer, Matthew J and
                      Aasly, Jan O and Elbaz, Alexis and Ioannidis, John P and
                      Annesi, Grazie and Valente, Enza Maria and Bozi, Maria and
                      Brice, Alexis and Curie, Marie and Carmine-Belin, Andrea and
                      Carr, Jonathan and Carroll, Camille and Chen, Sheng-Di and
                      Chung, Sun Ju and Cosentino, Carlos and Cresswell, Silke and
                      Deutschlaender, Angela and Ferrarese, Carlo and Foroud,
                      Tatiana and Garraux, Gaëtan and Goldwurm, Stefano and
                      Hadjigeorgiou, George and Chartier-Harlin, Marie-Christine
                      and Hassan, Anhar and Hattori, Nobutaka and Hentati, Faycal
                      and Jeon, Beom Seok and Kawakami, Hideshi and Kim, Yun Joong
                      and Kishore, Asha and Klein, Christine and Koks, Sulev and
                      Krainc, Dimitri and Krygowska-Wajs, Anna and Lin, Juei-Jueng
                      and Lynch, Tim and Maraganore, Demetrius M and Mellick,
                      George and Morrison, Karen E and Munhoz, Renato P and Opala,
                      Grzegorz and Pastor, Pao and Payami, Haydeh and Pchelina,
                      Sofya N and Petersburg, Saint and Petersen, Maria Skaalum
                      and Puschmann, Andrea and Ritz, Beate and Rogaeva, Ekaterina
                      and Sazci, Ali and Slawek, Jaroslaw and Stefanis, Leonidas
                      and Tan, Eng-King and Toda, Tatsushi and Toft, Matthias and
                      Van Broeckhoven, Christine and Wirdefeldt, Karin and
                      Woitalla, Dirk and Wszolek, Zbigniew K and Zimprich,
                      Alexander},
      title        = {{G}lobal investigation and meta-analysis of the {C}9orf72
                      ({G}4{C}2)n repeat in {P}arkinson disease.},
      journal      = {Neurology},
      volume       = {83},
      number       = {21},
      issn         = {0028-3878},
      address      = {[S.l.]},
      publisher    = {Ovid},
      reportid     = {DZNE-2020-07699},
      pages        = {1906-1913},
      year         = {2014},
      abstract     = {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.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.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.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.},
      keywords     = {C9orf72 Protein / Cohort Studies / DNA Repeat Expansion:
                      genetics / Female / Humans / Internationality / Male /
                      Middle Aged / Parkinson Disease: diagnosis / Parkinson
                      Disease: epidemiology / Parkinson Disease: genetics /
                      Proteins: genetics / C9orf72 Protein (NLM Chemicals) /
                      C9orf72 protein, human (NLM Chemicals) / Proteins (NLM
                      Chemicals)},
      cin          = {Ext HIH / AG Gasser 1},
      ddc          = {610},
      cid          = {I:(DE-2719)5000057 / I:(DE-2719)1210000},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:25326098},
      pmc          = {pmc:PMC4248456},
      doi          = {10.1212/WNL.0000000000001012},
      url          = {https://pub.dzne.de/record/141377},
}