期刊
NEUROLOGY
卷 83, 期 21, 页码 1906-1913出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000001012
关键词
-
资金
- Belgian Science Policy Office Interuniversity Attraction Poles (IAP)
- European Initiative on Centers of Excellence in Neurodegeneration (CoEN)
- Flemish Government initiated Methusalem Excellence Program
- Alzheimer Research Foundation (SAO/FRA)
- Queen Elisabeth Medical Foundation (QEMF)
- Research Foundation Flanders (FWO)
- Agency for Innovation by Science and Technology Flanders (IWT)
- University of Antwerp Research Fund, Belgium
- MetLife Foundation for Medical Research Award
- France-Parkinson Association
- French program Investissements d'avenir [ANR-10-IAIHU-06]
- USA-Florida: Mayo Clinic Florida is a Morris K. Udall Center of Excellence in PD Research NIH/NINDS [P50 NS072187]
- NINDS [R01 NS078086]
- Michael J. Fox Foundation
- Mayo Clinic Center for Regenerative Medicine
- Hermann and Lilly Schilling Foundation
- Forschungszentrum fur Umwelt und Gesundheit
- German Federal Ministry of Education, Science, Research, and Technology
- State of Bavaria
- German National Genome Network [01GS08134]
- German National Genome Network (German Ministry for Education and Research)
- German Federal Ministry of Education and Research [NGFN 01GR0468]
- ERA-NET NEURON [01EW0908]
- Helmholtz Alliance Mental Health in an Ageing Society [HA-215]
- Initiative and Networking Fund of the Helmholtz Association
- Research Committee of University of Thessaly [2845]
- Swedish Parkinson Foundation (Parkinsonfonden)
- Swedish National Health Services (ALF-YF)
- NIH [R01NS069936, R01NS058850, R01ES10751]
- Korea Healthcare technology R & D Project, Ministry of Health & Welfare, Republic of Korea [A092042]
- Asan Institute for Life Sciences [2010-0416]
Objectives: The objective of this study is to clarify the role of (G(4)C(2))(n) expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort. Methods: C9orf72 (G(4)C(2))(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 (G(4)C(2))(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 (G(4)C(2)) n repeats; however, we could not detect a robust association between the C9orf72 (G(4)C(2))(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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据