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) |
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Pages (from-to) | 464-467 |
Number of pages | 4 |
Journal | Journal of Neurology, Neurosurgery and Psychiatry |
Volume | 77 |
Issue number | 4 |
DOIs | |
State | Published - Apr 2006 |
ASJC Scopus subject areas
- Surgery
- Clinical Neurology
- Psychiatry and Mental health