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alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

Titlealpha-Synuclein promoter confers susceptibility to Parkinson's disease.
Publication TypeJournal Article
Year of Publication2004
AuthorsPals P, Lincoln S, Manning JR, Heckman M, Skipper L, Hulihan M, Van den Broeck M, De Pooter T, Cras P, Crook J, Van Broeckhoven C, Farrer MJ
JournalAnn Neurol
Volume56
Pagination591–595
Date PublishedOct
KeywordsAdult, Aged, alpha-Synuclein, Case-Control Studies, Comparative Study, Disease Susceptibility, Exons, Female, Genetic Markers, Genome, Haplotypes, Humans, Linkage Disequilibrium, Male, Middle Aged, Nerve Tissue Proteins, Non-U.S. Gov't, Parkinson Disease, Promoter Regions (Genetics), Research Support, Reverse Transcriptase Polymerase Chain Reaction, Synucleins
Abstract

Familial Parkinson's disease (PD) has been linked to missense and genomic multiplication mutations of the alpha-synuclein gene (SNCA). Genetic variability within SNCA has been implicated in idiopathic PD in many populations. We now confirm and extend these findings, within a Belgian sample, using a high-resolution map of genetic markers across the SNCA locus. Our study implicates the SNCA promoter in susceptibility to PD, and more specifically defines a minimum promoter haplotype, spanning approximately 15.3kb of sequence, which is overrepresented in patients. Our findings represent a biomarker for PD and may have implications for patient diagnosis, longitudinal evaluation, and treatment.

URLhttp://dx.doi.org/10.1002/ana.20268
DOI10.1002/ana.20268
PubMed ID15455394
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