Please use this identifier to cite or link to this item: https://doi.org/10.1212/WNL.0000000000001012
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dc.titleGlobal investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease
dc.contributor.authorTheuns J.
dc.contributor.authorVerstraeten A.
dc.contributor.authorSleegers K.
dc.contributor.authorWauters E.
dc.contributor.authorGijselinck I.
dc.contributor.authorSmolders S.
dc.contributor.authorCrosiers D.
dc.contributor.authorCorsmit E.
dc.contributor.authorElinck E.
dc.contributor.authorSharma M.
dc.contributor.authorKrüger R.
dc.contributor.authorLesage S.
dc.contributor.authorBrice A.
dc.contributor.authorChung S.J.
dc.contributor.authorKim M.-J.
dc.contributor.authorKim Y.J.
dc.contributor.authorRoss O.A.
dc.contributor.authorWszolek Z.K.
dc.contributor.authorRogaeva E.
dc.contributor.authorXi Z.
dc.contributor.authorLang A.E.
dc.contributor.authorKlein C.
dc.contributor.authorWeissbach A.
dc.contributor.authorMellick G.D.
dc.contributor.authorSilburn P.A.
dc.contributor.authorHadjigeorgiou G.M.
dc.contributor.authorDardiotis E.
dc.contributor.authorHattori N.
dc.contributor.authorOgaki K.
dc.contributor.authorTan E.-K.
dc.contributor.authorZhao Y.
dc.contributor.authorAasly J.
dc.contributor.authorValente E.M.
dc.contributor.authorPetrucci S.
dc.contributor.authorAnnesi G.
dc.contributor.authorQuattrone A.
dc.contributor.authorFerrarese C.
dc.contributor.authorBrighina L.
dc.contributor.authorDeutschländer A.
dc.contributor.authorPuschmann A.
dc.contributor.authorNilsson C.
dc.contributor.authorGarraux G.
dc.contributor.authorLeDoux M.S.
dc.contributor.authorPfeiffer R.F.
dc.contributor.authorBoczarska-Jedynak M.
dc.contributor.authorOpala G.
dc.contributor.authorMaraganore D.M.
dc.contributor.authorEngelborghs S.
dc.contributor.authorDe Deyn P.P.
dc.contributor.authorCras P.
dc.contributor.authorCruts M.
dc.contributor.authorVan Broeckhoven C.
dc.date.accessioned2018-12-21T07:03:22Z
dc.date.available2018-12-21T07:03:22Z
dc.date.issued2014
dc.identifier.citationTheuns 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.issn283878
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/150108
dc.description.abstractObjectives: 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.publisherLippincott Williams and Wilkins
dc.sourceScopus
dc.typeArticle
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.description.doi10.1212/WNL.0000000000001012
dc.description.sourcetitleNeurology
dc.description.volume83
dc.description.issue21
dc.description.page1906-1913
dc.published.statePublished
dc.grant.idR01NS069936
dc.grant.fundingagencyNIH, National Institutes of Health
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