alpha-synuclein promoter confers susceptibility to Parkinson's disease

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)591-595
Number of pages5
JournalAnnals of Neurology
Volume56
Issue number4
DOIs
Publication statusPublished - Oct 2004

Keywords

  • LINKAGE PHASE
  • POLYMORPHISM
  • HAPLOTYPES
  • NACP-REP1
  • ASSOCIATION
  • GENOTYPE
  • RISK

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