| Literature DB >> 15455394 |
Philippe Pals1, Sarah Lincoln, Jonathan Manning, Michael Heckman, Lisa Skipper, Mary Hulihan, Marleen Van den Broeck, Tim De Pooter, Patrick Cras, Julia Crook, Christine Van Broeckhoven, Matt J Farrer.
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.Entities:
Mesh:
Substances:
Year: 2004 PMID: 15455394 DOI: 10.1002/ana.20268
Source DB: PubMed Journal: Ann Neurol ISSN: 0364-5134 Impact factor: 10.422