The α-synuclein gene in multiple system atrophy

T. Ozawa; 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

doi:10.1136/jnnp.2005.073528

The α-synuclein gene in multiple system atrophy

T. Ozawa, 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. GasserT. Revesz, N. W. Wood

Neurology

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

Abstract

Background: The formation of α-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 α-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.

Original language	English (US)
Pages (from-to)	464-467
Number of pages	4
Journal	Journal of Neurology, Neurosurgery and Psychiatry
Volume	77
Issue number	4
DOIs	https://doi.org/10.1136/jnnp.2005.073528
State	Published - Apr 2006

ASJC Scopus subject areas

Surgery
Clinical Neurology
Psychiatry and Mental health

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Ozawa, T., Healy, D. G., Abou-Sleiman, P. M., Ahmadi, K. R., Quinn, N., Lees, A. J., Shaw, K., Wullner, U., Berciano, J., Moller, J. C., Kamm, C., Burk, K., Josephs, K. A., Barone, P., Tolosa, E., Goldstein, D. B., Wenning, G., Geser, F., Holton, J. L., ... Wood, N. W. (2006). The α-synuclein gene in multiple system atrophy. Journal of Neurology, Neurosurgery and Psychiatry, 77(4), 464-467. https://doi.org/10.1136/jnnp.2005.073528

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 2006, 'The α-synuclein gene in multiple system atrophy', Journal of Neurology, Neurosurgery and Psychiatry, vol. 77, no. 4, pp. 464-467. https://doi.org/10.1136/jnnp.2005.073528

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abstract = "Background: The formation of α-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 α-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.",

author = "T. Ozawa and Healy, {D. G.} and Abou-Sleiman, {P. M.} and Ahmadi, {K. R.} and N. Quinn and Lees, {A. J.} and K. Shaw and U. Wullner and J. Berciano and Moller, {J. C.} and C. Kamm and K. Burk and Josephs, {K. A.} and P. Barone and E. Tolosa and Goldstein, {D. B.} and G. Wenning and F. Geser and Holton, {J. L.} and T. Gasser and T. Revesz and Wood, {N. W.}",

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AU - Quinn, N.

AU - Lees, A. J.

AU - Shaw, K.

AU - Wullner, U.

AU - Berciano, J.

AU - Moller, J. C.

AU - Kamm, C.

AU - Burk, K.

AU - Josephs, K. A.

AU - Barone, P.

AU - Tolosa, E.

AU - Goldstein, D. B.

AU - Wenning, G.

AU - Geser, F.

AU - Holton, J. L.

AU - Gasser, T.

AU - Revesz, T.

AU - Wood, N. W.

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The α-synuclein gene in multiple system atrophy

Abstract

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