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

doi:10.1002/ana.20268

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

Quantitative Health Sciences

Research output: Contribution to journal › Article › peer-review

176 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 language	English (US)
Pages (from-to)	591-595
Number of pages	5
Journal	Annals of neurology
Volume	56
Issue number	4
DOIs	https://doi.org/10.1002/ana.20268
State	Published - Oct 2004

ASJC Scopus subject areas

Neurology
Clinical Neurology

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title = "α-Synuclein promoter confers susceptibility to Parkinson's disease",

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.",

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AU - Pals, Philippe

AU - Lincoln, Sarah

AU - Manning, Jonathan

AU - Heckman, Michael

AU - Skipper, Lisa

AU - Hulihan, Mary

AU - Van Den Broeck, Marleen

AU - De Pooter, Tim

AU - Cras, Patrick

AU - Crook, Julia

AU - Van Broeckhoven, Christine

AU - Farrer, Matt J.

PY - 2004/10

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N2 - 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.

AB - 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.

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α-Synuclein promoter confers susceptibility to Parkinson's disease

Abstract

ASJC Scopus subject areas

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