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. 2006 Apr;77(4):464-7.
doi: 10.1136/jnnp.2005.073528.

The alpha-synuclein gene in multiple system atrophy

T Ozawa  1 , D G Healy, P M Abou-Sleiman, K R Ahmadi, N Quinn, A J Lees, K Shaw, U Wullner, J Berciano, J C Moller, C Kamm, K Burk, K A Josephs, P Barone, E Tolosa, D B Goldstein, G Wenning, F Geser, J L Holton, T Gasser, T Revesz, N W Wood; European MSA study group
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The alpha-synuclein gene in multiple system atrophy

T Ozawa et al. J Neurol Neurosurg Psychiatry. 2006 Apr.

Abstract

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.

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Conflict of interest statement

Competing interests: none declared

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