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


  • Please cite this article as follows: De Marco EV, Tarantino P, Rocca FE, Provenzano G, Civitelli D, De Luca V, Annesi F, Carrideo S, Cirò Candiano IC, Romeo N, Nicoletti G, Marconi R, Novellino F, Morelli M, Quattrone A, Annesi G. 2008. Alpha-Synuclein Promoter Haplotypes and Dementia in Parkinson's Disease. Am J Med Genet Part B 147B: 403–407.


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.