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The alpha-synuclein gene in multiple system atrophy.

Ozawa, T, Healy, DG, Abou-Sleiman, PM, Ahmadi, KR, Quinn, N, Lees, AJ, Shaw, K, Wullner, U, Berciano, J, Moller, JC , Kamm, C, Burk, K, Josephs, KA, Barone, P, Tolosa, E, Goldstein, DB, Wenning, G, Geser, F, Holton, JL, Gasser, T, Revesz, T, Wood, NW and European MSA study group, (2006) The alpha-synuclein gene in multiple system atrophy. J Neurol Neurosurg Psychiatry, 77 (4). pp. 464-467.

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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.

Item Type: Article
Authors :
NameEmailORCID
Ozawa, T
Healy, DG
Abou-Sleiman, PM
Ahmadi, KRk.ahmadi@surrey.ac.uk
Quinn, N
Lees, AJ
Shaw, K
Wullner, U
Berciano, J
Moller, JC
Kamm, C
Burk, K
Josephs, KA
Barone, P
Tolosa, E
Goldstein, DB
Wenning, G
Geser, F
Holton, JL
Gasser, T
Revesz, T
Wood, NW
European MSA study group,
Date : April 2006
Identification Number : 10.1136/jnnp.2005.073528
Uncontrolled Keywords : Gene Expression, Genotype, Haplotypes, Humans, Linkage Disequilibrium, Multiple System Atrophy, Polymorphism, Single Nucleotide, Sequence Tagged Sites, alpha-Synuclein
Related URLs :
Depositing User : Symplectic Elements
Date Deposited : 17 May 2017 09:48
Last Modified : 17 May 2017 14:45
URI: http://epubs.surrey.ac.uk/id/eprint/825196

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