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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, TUNSPECIFIEDUNSPECIFIED
Healy, DGUNSPECIFIEDUNSPECIFIED
Abou-Sleiman, PMUNSPECIFIEDUNSPECIFIED
Ahmadi, KRk.ahmadi@surrey.ac.ukUNSPECIFIED
Quinn, NUNSPECIFIEDUNSPECIFIED
Lees, AJUNSPECIFIEDUNSPECIFIED
Shaw, KUNSPECIFIEDUNSPECIFIED
Wullner, UUNSPECIFIEDUNSPECIFIED
Berciano, JUNSPECIFIEDUNSPECIFIED
Moller, JCUNSPECIFIEDUNSPECIFIED
Kamm, CUNSPECIFIEDUNSPECIFIED
Burk, KUNSPECIFIEDUNSPECIFIED
Josephs, KAUNSPECIFIEDUNSPECIFIED
Barone, PUNSPECIFIEDUNSPECIFIED
Tolosa, EUNSPECIFIEDUNSPECIFIED
Goldstein, DBUNSPECIFIEDUNSPECIFIED
Wenning, GUNSPECIFIEDUNSPECIFIED
Geser, FUNSPECIFIEDUNSPECIFIED
Holton, JLUNSPECIFIEDUNSPECIFIED
Gasser, TUNSPECIFIEDUNSPECIFIED
Revesz, TUNSPECIFIEDUNSPECIFIED
Wood, NWUNSPECIFIEDUNSPECIFIED
European MSA study group, UNSPECIFIEDUNSPECIFIED
Date : April 2006
Identification Number : https://doi.org/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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