Al-Chalabi, A;
Dürr, A;
Wood, NW;
Parkinson, MH;
Camuzat, A;
Hulot, JS;
Morrison, KE;
... NNIPPS Genetic Study Group; + view all
(2009)
Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy.
PLoS One
, 4
(9)
, Article e7114. 10.1371/journal.pone.0007114.
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Abstract
Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by parkinsonism, cerebellar ataxia and autonomic dysfunction. Pathogenic mechanisms remain obscure but the neuropathological hallmark is the presence of alpha-synuclein-immunoreactive glial cytoplasmic inclusions. Genetic variants of the alpha-synuclein gene, SNCA, are thus strong candidates for genetic association with MSA. One follow-up to a genome-wide association of Parkinson's disease has identified association of a SNP in SNCA with MSA.
| Type: | Article |
|---|---|
| Title: | Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy. |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1371/journal.pone.0007114 |
| Publisher version: | http://dx.doi.org/10.1371/journal.pone.0007114 |
| Language: | English |
| Additional information: | PMCID: PMC2743996 © 2009 Al-Chalabi et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. NNIPPS was an academic-led study with core funding from the European Union 5th Framework Programme (QLG1-CT-2000-01262); support from French Health Ministry, Programme Hospitalier de Recherche Clinique (AOM97073, AOM01125) and from Sanofi-Aventis affiliates in the UK, France and Germany, providing an unconditional research grant and drug supply throughout the study. Genetic analysis was supported by the French Programme Hospitalier de Recherche Clinique (P040410). Three academic institutions (Institute of Psychiatry, King's College London; Assistance Publique-Hopitaux de Paris; and University of Ulm) were sponsors of the NNIPPS study in each country, and jointly own the data. We thank the Parkinson's Disease Society, Medical Research Council, the French and UK PSP Associations, the Sarah Matheson Trust, UCL Institute of Genetics and Health, the Department of Health via the National Institute for Health Research (NIHR) Specialist Biomedical Research Centre for Mental Health award to South London and Maudsley NHS Foundation Trust (SLaM) and the Institute of Psychiatry at King's College London, and the UK Parkinson's Disease Research Group for their help and support. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. |
| Keywords: | Aged, Case-Control Studies, Female, Genetic Variation, Genotype, Humans, Male, Microsatellite Repeats, Middle Aged, Multiple System Atrophy, Polymorphism, Single Nucleotide, Quality Control, alpha-Synuclein |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1348897 |
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