Journal Article

DZNE-2020-07699

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.

Theuns, J. ; Verstraeten, A. ; Sleegers, K. ; Wauters, E. ; Gijselinck, I. ; Smolders, S. ; Crosiers, D. ; Corsmit, E. ; Elinck, E. ; Sharma, M.DZNE* ; Krüger, R.DZNE* ; 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. (Corresponding author) ; Consortium, G.-P. ; Maraganore, D. M. ; Farrer, M. J. ; Aasly, J. O. ; Elbaz, A. ; Ioannidis, J. P. ; Annesi, G. ; Valente, E. M. ; Bozi, M. ; Brice, A. ; Curie, M. ; Carmine-Belin, A. ; Carr, J. ; Carroll, C. ; Chen, S.-D. ; Chung, S. J. ; Cosentino, C. ; Cresswell, S. ; Deutschlaender, A. ; Ferrarese, C. ; Foroud, T. ; Garraux, G. ; Goldwurm, S. ; Hadjigeorgiou, G. ; Chartier-Harlin, M.-C. ; Hassan, A. ; Hattori, N. ; Hentati, F. ; Jeon, B. S. ; Kawakami, H. ; Kim, Y. J. ; Kishore, A. ; Klein, C. ; Koks, S. ; Krainc, D. ; Krygowska-Wajs, A. ; Lin, J.-J. ; Lynch, T. ; Maraganore, D. M. ; Mellick, G. ; Morrison, K. E. ; Munhoz, R. P. ; Opala, G. ; Pastor, P. ; Payami, H. ; Pchelina, S. N. ; Petersburg, S. ; Petersen, M. S. ; Puschmann, A. ; Ritz, B. ; Rogaeva, E. ; Sazci, A. ; Slawek, J. ; Stefanis, L. ; Tan, E.-K. ; Toda, T. ; Toft, M. ; Van Broeckhoven, C. ; Wirdefeldt, K. ; Woitalla, D. ; Wszolek, Z. K. ; Zimprich, A.

2014
Ovid [S.l.]

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Please use a persistent id in citations: doi:10.1212/WNL.0000000000001012

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.

Keyword(s): C9orf72 Protein (MeSH) ; Cohort Studies (MeSH) ; DNA Repeat Expansion: genetics (MeSH) ; Female (MeSH) ; Humans (MeSH) ; Internationality (MeSH) ; Male (MeSH) ; Middle Aged (MeSH) ; Parkinson Disease: diagnosis (MeSH) ; Parkinson Disease: epidemiology (MeSH) ; Parkinson Disease: genetics (MeSH) ; Proteins: genetics (MeSH) ; C9orf72 Protein ; C9orf72 protein, human ; Proteins

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Contributing Institute(s):

1. Ext Hertie-Institut für klinische Hirnforschung (Ext HIH)
2. Parkinson Genetics (AG Gasser 1)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2014

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Database coverage:
; Allianz-Lizenz ; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; IF >= 5 ; JCR ; NCBI Molecular Biology Database ; PubMed Central ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection

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