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Title: Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease
Authors: 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.
Issue Date: 2014
Publisher: Lippincott Williams and Wilkins
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.
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.
Source Title: Neurology
ISSN: 283878
DOI: 10.1212/WNL.0000000000001012
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