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, Keith Anthony Josephs, P. Barone, E. Tolosa, D. B. Goldstein, G. Wenning, F. Geser, J. L. Holton, T. GasserT. Revesz, N. W. Wood

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)464-467
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume77
Issue number4
DOIs
StatePublished - Apr 2006
Externally publishedYes

    Fingerprint

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

Cite this

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