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PMID: 15455394 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

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

Annals of neurology ·Vol. 56 ·No. 4 ·2004-10-00 ·Pages 591-5

Pals P, Lincoln S, Manning J, Heckman M, Skipper L, Hulihan M, Van den Broeck M, De Pooter T, Cras P, Crook J, Van Broeckhoven C, Farrer MJ

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.

MeSH Terms
Adult Aged Case-Control Studies Disease Susceptibility Exons Female Genetic Markers Genome Haplotypes Humans Linkage Disequilibrium Male Middle Aged Nerve Tissue Proteins/genetics Parkinson Disease/genetics Promoter Regions, Genetic Reverse Transcriptase Polymerase Chain Reaction/methods Synucleins alpha-Synuclein
Chemicals
Genetic Markers Nerve Tissue Proteins SNCA protein, human Synucleins alpha-Synuclein
Authors & Affiliations
12 authors, click to expand affiliations / ORCID
Pals Philippe
Department of Molecular Genetics VIB8, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Belgium.
Lincoln Sarah
Manning Jonathan
Heckman Michael
Skipper Lisa
Hulihan Mary
Van den Broeck Marleen
De Pooter Tim
Cras Patrick
Crook Julia
Van Broeckhoven Christine
Farrer Matt J
Article Info
Journal
Annals of neurology
Abbr.
Ann Neurol
ISSN
0364-5134
Published
2004-10-00
Pages
591-5
Language
English
Region
United States
NLM ID
7707449
Subset
IM
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