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

Research output: Contribution to journalArticlepeer-review

36 Scopus citations


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
Issue number4
StatePublished - Apr 2006

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health


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