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α‐Synuclein promoter confers susceptibility to Parkinson's disease
Author(s) -
Pals Philippe,
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.
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20268
Subject(s) - genetics , haplotype , missense mutation , locus (genetics) , biology , parkinson's disease , disease , alpha synuclein , promoter , gene , genotype , mutation , medicine , gene expression , pathology
Familial Parkinson's disease (PD) has been linked to missense and genomic multiplication mutations of the α‐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. Ann Neurol 2004;56:591–595