Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease
| العنوان: | Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease |
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| المؤلفون: | Theuns, J., Verstraeten, A., Sleegers, K., Wauters, E., Gijselinck, I., Smolders, S., Crosiers, D., Corsmit, E., Elinck, E., Sharma, M., Kruger, 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., Deutschlander, A., Puschmann, Andreas, 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. |
| المصدر: | Neurology MultiPark: Multidisciplinary research focused on Parkinson´s disease. 83(21):13-1906 |
| مصطلحات موضوعية: | Cohort Studies, DNA Repeat Expansion/ genetics, Female, Humans, Internationality, Male, Middle Aged, Parkinson Disease/ diagnosis/epidemiology/ genetics, Proteins/ genetics, Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medical and Health Sciences, Clinical Medicine, Neurology |
| الوصف: | 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. |
| وصف الملف: | electronic |
| الوصول الحر: | https://lup.lub.lu.se/record/7374380Test https://portal.research.lu.se/files/5122167/7374911.pdfTest http://dx.doi.org/10.1212/wnl.0000000000001012Test |
| قاعدة البيانات: | SwePub |
| تدمد: | 1526632X |
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| DOI: | 10.1212/wnl.0000000000001012 |