α-synuclein promoter confers susceptibility to Parkinson's disease

被引：161

作者：

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, MJ

机构：

[1] Mayo Clin Jacksonville, Dept Neurosci, Jacksonville, FL 32224 USA

[2] Univ Antwerp VIB, Dept Mol Genet, B-2020 Antwerp, Belgium

[3] Univ Antwerp, Born Bunge Fdn, B-2020 Antwerp, Belgium

[4] Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium

来源：

ANNALS OF NEUROLOGY | 2004年 / 56卷 / 04期

关键词：

D O I：

10.1002/ana.20268

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：591 / 595

页数：5

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