Alpha-synuclein promoter haplotypes and dementia in Parkinson's Disease

Dementia is a common complication of Parkinson's disease (PD). It correlates significantly with the presence of cortical, limbic or nigral Lewy bodies, mainly constituted of alpha‐synuclein. Mutations of the alpha‐synuclein gene (SNCA) have been linked to rare familial forms of PD, while associ...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2008-04, Vol.147B (3), p.403-407
Main Authors: De Marco, E.V., Tarantino, P., Rocca, F.E., Provenzano, G., Civitelli, D., De Luca, V., Annesi, F., Carrideo, S., Cirò Candiano, I.C., Romeo, N., Nicoletti, G., Marconi, R., Novellino, F., Morelli, M., Quattrone, A., Annesi, G.
Format: Article
Language:English
Subjects:
Aged
alpha-Synuclein - genetics
Association study
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Dementia - genetics
Female
Haplotypes
Humans
Male
Medical genetics
Medical sciences
Middle Aged
Nervous system (semeiology, syndromes)
Nervous system as a whole
Neurology
Parkinson Disease - genetics
Polymorphism, Genetic
Promoter Regions, Genetic
Rep1
SNCA
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Dementia is a common complication of Parkinson's disease (PD). It correlates significantly with the presence of cortical, limbic or nigral Lewy bodies, mainly constituted of alpha‐synuclein. Mutations of the alpha‐synuclein gene (SNCA) have been linked to rare familial forms of PD, while association studies on the promoter polymorphisms have given conflicting results in sporadic patients. We have performed a case control study to investigate whether genetic variability in the promoter of the alpha‐synuclein gene could predispose to dementia in PD. A total of 114 demented patients and 114 non‐demented patients with sporadic PD were included in the study. Six polymorphic loci (including the Rep1 microsatellite) in the promoter of the SNCA gene were examined. Each marker, taken individually, did not show association to dementia and no significant differences were observed in the inferred haplotype frequencies of demented and non‐demented patients. Our data suggest the lack of involvement of the SNCA promoter in the pathogenesis of dementia in PD. Further studies in other populations are needed to confirm these results. © 2007 Wiley‐Liss, Inc.
ISSN:1552-4841
1552-485X
DOI:10.1002/ajmg.b.30611