The alpha-synuclein gene in multiple system atrophy.
J Neurol Neurosurg Psychiatry
; 77(4): 464-7, 2006 Apr.
Article
en En
| MEDLINE
| ID: mdl-16543523
ABSTRACT
BACKGROUND:
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.METHOD:
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. RESULTS ANDCONCLUSION:
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Atrofia de Múltiples Sistemas
/
Alfa-Sinucleína
Límite:
Humans
Idioma:
En
Revista:
J Neurol Neurosurg Psychiatry
Año:
2006
Tipo del documento:
Article
País de afiliación:
Reino Unido