Please use this identifier to cite or link to this item:
https://doi.org/10.1212/WNL.0000000000001012
DC Field | Value | |
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dc.title | Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease | |
dc.contributor.author | Theuns J. | |
dc.contributor.author | Verstraeten A. | |
dc.contributor.author | Sleegers K. | |
dc.contributor.author | Wauters E. | |
dc.contributor.author | Gijselinck I. | |
dc.contributor.author | Smolders S. | |
dc.contributor.author | Crosiers D. | |
dc.contributor.author | Corsmit E. | |
dc.contributor.author | Elinck E. | |
dc.contributor.author | Sharma M. | |
dc.contributor.author | Krüger R. | |
dc.contributor.author | Lesage S. | |
dc.contributor.author | Brice A. | |
dc.contributor.author | Chung S.J. | |
dc.contributor.author | Kim M.-J. | |
dc.contributor.author | Kim Y.J. | |
dc.contributor.author | Ross O.A. | |
dc.contributor.author | Wszolek Z.K. | |
dc.contributor.author | Rogaeva E. | |
dc.contributor.author | Xi Z. | |
dc.contributor.author | Lang A.E. | |
dc.contributor.author | Klein C. | |
dc.contributor.author | Weissbach A. | |
dc.contributor.author | Mellick G.D. | |
dc.contributor.author | Silburn P.A. | |
dc.contributor.author | Hadjigeorgiou G.M. | |
dc.contributor.author | Dardiotis E. | |
dc.contributor.author | Hattori N. | |
dc.contributor.author | Ogaki K. | |
dc.contributor.author | Tan E.-K. | |
dc.contributor.author | Zhao Y. | |
dc.contributor.author | Aasly J. | |
dc.contributor.author | Valente E.M. | |
dc.contributor.author | Petrucci S. | |
dc.contributor.author | Annesi G. | |
dc.contributor.author | Quattrone A. | |
dc.contributor.author | Ferrarese C. | |
dc.contributor.author | Brighina L. | |
dc.contributor.author | Deutschländer A. | |
dc.contributor.author | Puschmann A. | |
dc.contributor.author | Nilsson C. | |
dc.contributor.author | Garraux G. | |
dc.contributor.author | LeDoux M.S. | |
dc.contributor.author | Pfeiffer R.F. | |
dc.contributor.author | Boczarska-Jedynak M. | |
dc.contributor.author | Opala G. | |
dc.contributor.author | Maraganore D.M. | |
dc.contributor.author | Engelborghs S. | |
dc.contributor.author | De Deyn P.P. | |
dc.contributor.author | Cras P. | |
dc.contributor.author | Cruts M. | |
dc.contributor.author | Van Broeckhoven C. | |
dc.date.accessioned | 2018-12-21T07:03:22Z | |
dc.date.available | 2018-12-21T07:03:22Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | Theuns J., Verstraeten A., Sleegers K., Wauters E., Gijselinck I., Smolders S., Crosiers D., Corsmit E., Elinck E., Sharma M., Krüger R., Lesage S., Brice A., Chung S.J., Kim M.-J., Kim Y.J., Ross O.A., Wszolek Z.K., Rogaeva E., Xi Z., Lang A.E., Klein C., Weissbach A., Mellick G.D., Silburn P.A., Hadjigeorgiou G.M., Dardiotis E., Hattori N., Ogaki K., Tan E.-K., Zhao Y., Aasly J., Valente E.M., Petrucci S., Annesi G., Quattrone A., Ferrarese C., Brighina L., Deutschländer A., Puschmann A., Nilsson C., Garraux G., LeDoux M.S., Pfeiffer R.F., Boczarska-Jedynak M., Opala G., Maraganore D.M., Engelborghs S., De Deyn P.P., Cras P., Cruts M., Van Broeckhoven C. (2014). Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. Neurology 83 (21) : 1906-1913. ScholarBank@NUS Repository. https://doi.org/10.1212/WNL.0000000000001012 | |
dc.identifier.issn | 283878 | |
dc.identifier.uri | http://scholarbank.nus.edu.sg/handle/10635/150108 | |
dc.description.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. © 2014 American Academy of Neurology. | |
dc.publisher | Lippincott Williams and Wilkins | |
dc.source | Scopus | |
dc.type | Article | |
dc.contributor.department | DUKE-NUS MEDICAL SCHOOL | |
dc.description.doi | 10.1212/WNL.0000000000001012 | |
dc.description.sourcetitle | Neurology | |
dc.description.volume | 83 | |
dc.description.issue | 21 | |
dc.description.page | 1906-1913 | |
dc.published.state | Published | |
dc.grant.id | R01NS069936 | |
dc.grant.fundingagency | NIH, National Institutes of Health | |
Appears in Collections: | Elements Staff Publications |
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