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Journal of Neurology, Neurosurgery, and Psychiatry 2006;77:464-467; doi:10.1136/jnnp.2005.073528
Copyright © 2006 by the BMJ Publishing Group Ltd.
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PAPER

The {alpha}-synuclein gene in multiple system atrophy

T Ozawa1,*, D G Healy1,*, P M Abou-Sleiman1, K R Ahmadi10, N Quinn2, A J Lees1, K Shaw1, U Wullner3, J Berciano4, J C Moller5, C Kamm6, K Burk7, K A Josephs1, P Barone8, E Tolosa9, D B Goldstein10, G Wenning11, F Geser11, J L Holton1, T Gasser1, T Revesz6, N W Wood1 the European MSA study group

1 Department of Molecular Neuroscience, Institute of Neurology, London, UK
2 Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, London, UK
3 Department of Neurology, University of Bonn, Bonn, Germany
4 Service of Neurology, University Hospital "Marques de Valdecilla", 39008 Santander, Spain
5 Department of Neurology, Philipps University, Marburg, Germany
6 Department of Neurodegenerative Diseases, University of Tuebingen, Germany
7 Department of Neurology, University of Tuebingen, Germany
8 Department of Neurological Sciences, Universita Federico II, Napoli, Italy
9 Neurology Service, Institut Clinic Maltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona, Spain
10 Department of Biology, University College London, London, UK
11 Clinical department of Neurology, Innsbruck Medical University, Austria

Correspondence to:
Correspondence to:
N W Wood
n.wood{at}ion.ucl.ac.uk

Background: The formation of {alpha}-synuclein aggregates may be a critical event in the pathogenesis of multiple system atrophy (MSA). However, the role of this gene in the aetiology of MSA is unknown and untested.

Method: The linkage disequilibrium (LD) structure of the {alpha}-synuclein gene was established and LD patterns were used to identify a set of tagging single nucleotide polymorphisms (SNPs) that represent 95% of the haplotype diversity across the entire gene. The effect of polymorphisms on the pathological expression of MSA in pathologically confirmed cases was also evaluated.

Results and conclusion: In 253 Gilman probable or definite MSA patients, 457 possible, probable, and definite MSA cases and 1472 controls, a frequency difference for the individual tagging SNPs or tag-defined haplotypes was not detected. No effect was observed of polymorphisms on the pathological expression of MSA in pathologically confirmed cases.

Abbreviations: EM, expectation-maximisation; EMSA-SG, European MSA Study Group; LD, linkage disequilibrium; MAF, minor allele frequency; MSA, multiple system atrophy; OPCA, olivopontocerebellar atrophy; PD, Parkinson’s disease; SND, striatonigral degeneration; tSNP, tagging single nucleotide polymorphism

Keywords: alpha synuclein; association study; MSA






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