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

doi:10.1002/ana.20268

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 journal › Article › peer-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 language	English
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
Publication status	Published - Oct 2004

Keywords / Materials (for Non-textual outputs)

LINKAGE PHASE
POLYMORPHISM
HAPLOTYPES
NACP-REP1
ASSOCIATION
GENOTYPE
RISK

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10.1002/ana.20268

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title = "alpha-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 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.",

keywords = "LINKAGE PHASE, POLYMORPHISM, HAPLOTYPES, NACP-REP1, ASSOCIATION, GENOTYPE, RISK",

author = "P Pals and S Lincoln and J Manning and M Heckman and L Skipper and M Hulihan and \{Van den Broeck\}, M and \{De Pooter\}, T and P Cras and J Crook and \{Van Broeckhoven\}, C and MJ Farrer",

year = "2004",

month = oct,

doi = "10.1002/ana.20268",

language = "English",

volume = "56",

pages = "591--595",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "Wiley",

number = "4",

}

TY - JOUR

T1 - alpha-synuclein promoter confers susceptibility to Parkinson's disease

AU - Pals, P

AU - Lincoln, S

AU - Manning, J

AU - Heckman, M

AU - Skipper, L

AU - Hulihan, M

AU - Van den Broeck, M

AU - De Pooter, T

AU - Cras, P

AU - Crook, J

AU - Van Broeckhoven, C

AU - Farrer, MJ

PY - 2004/10

Y1 - 2004/10

N2 - 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.

AB - 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.

KW - LINKAGE PHASE

KW - POLYMORPHISM

KW - HAPLOTYPES

KW - NACP-REP1

KW - ASSOCIATION

KW - GENOTYPE

KW - RISK

U2 - 10.1002/ana.20268

DO - 10.1002/ana.20268

M3 - Article

SN - 0364-5134

VL - 56

SP - 591

EP - 595

JO - Annals of Neurology

JF - Annals of Neurology

IS - 4

ER -

alpha-synuclein promoter confers susceptibility to Parkinson's disease

Abstract

Keywords / Materials (for Non-textual outputs)

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