Nurr1 mutational screen in Parkinson's disease

被引：19

作者：

Tan, EK

Chung, H

Chandran, VR

Tan, C

Shen, H

Yew, K

Pavanni, R

Puvan, K

Wong, MC

Teoh, ML

Yih, Y

Zhao, Y

机构：

[1] Singapore Gen Hosp, Dept Neurol, Singapore 169608, Singapore

[2] SingHlth, Div Res, Singapore, Singapore

[3] Natl Neurosci Inst, Singapore, Singapore

[4] Singapore Gen Hosp, Dept Clin Res, Singapore 0316, Singapore

[5] Singapore Gen Hosp, Dept Hlth Screening, Singapore 0316, Singapore

来源：

MOVEMENT DISORDERS | 2004年 / 19卷 / 12期

关键词：

Nurr1; polymorphism; mutation; Parkinson's disease;

D O I：

10.1002/mds.20246

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We performed sequence analysis of all the exons and exon-intron boundaries in familial and young-onset Parkinson's disease (PD) in an Asian cohort. None of the patients carried any pathogenic mutations in the Nurr1 gene. We demonstrated a 5 to 10% prevalence of the intron 7 +33 C-->T variant among Malay and Indian PD and healthy controls, suggesting that this variant, which was previously described only in 1 Chinese patient, was not a silent mutation but a common polymorphic variant in some ethnic races. (C) 2004 Movement Disorder Society.

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收藏

页码：1503 / 1505

页数：3

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