α‐Synuclein promoter confers susceptibility to Parkinson's disease

P Pals, S Lincoln, J Manning… - Annals of Neurology …, 2004 - Wiley Online Library
P Pals, S Lincoln, J Manning, M Heckman, L Skipper, M Hulihan, M Van den Broeck…
Annals of Neurology: Official Journal of the American Neurological …, 2004Wiley Online Library
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 15.3 kb of sequence, which …
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. Ann Neurol 2004;56:591–595
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