α-Synuclein promoter confers susceptibility to Parkinson's disease

Philippe Pals, 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

Research output: Contribution to journalArticle

168 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)591-595
Number of pages5
JournalAnnals of neurology
Volume56
Issue number4
DOIs
StatePublished - Oct 1 2004

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    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, M. J. (2004). α-Synuclein promoter confers susceptibility to Parkinson's disease. Annals of neurology, 56(4), 591-595. https://doi.org/10.1002/ana.20268