The alpha-synuclein gene in multiple system atrophy.

Published

Journal Article

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.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.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.

Full Text

Cited Authors

  • 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; European MSA study group,

Published Date

  • April 2006

Published In

Volume / Issue

  • 77 / 4

Start / End Page

  • 464 - 467

PubMed ID

  • 16543523

Pubmed Central ID

  • 16543523

Electronic International Standard Serial Number (EISSN)

  • 1468-330X

International Standard Serial Number (ISSN)

  • 0022-3050

Digital Object Identifier (DOI)

  • 10.1136/jnnp.2005.073528

Language

  • eng