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Right arrow Parkinson's disease/Parkinsonism
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Neurology 2002;58:881-884
© 2002 American Academy of Neurology

Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson’s disease

P.-Y. Xu, MD PhD, R. Liang, MD, J. Jankovic, MD, C. Hunter, RN, Y.-X. Zeng, MD, T. Ashizawa, MD, D. Lai, PhD and W.-D. Le, MD PhD

From the Department of Neurology (Drs. Xu, Jankovic, Ashizawa, and Le, and C. Hunter) and Department of Cellular and Molecuolar Biology (Dr. Liang), Baylor College of Medicine; Department of Epidemiology (Dr. Zeng), MD Anderson Cancer Center; and Department of Biometry (Dr. Lai), University of Texas, School of Public Health, Houston; and Department of Neurology (Dr. Xu), Sun Yat-Sen University of Medical Sciences, China.

Address correspondence and reprint requests to Dr. Wei-dong Le, Department of Neurology, Baylor College of Medicine, 6501 Fannin Street, Houston, TX 77030; e-mail: Weidongl{at}bcm.tmc.edu

Objective: To determine whether the Nurr1 gene, which is critical for the development and maintenance of nigral dopaminergic neurons, is a risk factor associated with PD.

Background: The Nurrl gene is highly expressed in the dopaminergic neurons in the midbrain. Knockout of the gene results in agenesis of nigral dopaminergic neurons and heterozygous knockout mice increases 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced neurotoxicity.

Methods: This study included 105 patients with familial PD (fPD) and 120 patients with sporadic PD (sPD) and 221 age-matched healthy control subjects. The polymorphisms and mutations of the Nurr1 gene in patients with PD were initially examined by heteroduplex analysis and sequencing analysis from PCR-amplified Nurr1 gene fragments. A polymorphism in the BseRI restriction site was identified, and a relatively large-scale analysis then was conducted by three independent investigators who were blinded to the clinical status of the subjects.

Results: A homozygous 7048G7049 polymorphism was found in intron 6 of the Nurr1 gene, which was significantly higher in fPD (10/105; 9.5%) and in sPD (5/120; 4.2%) compared with healthy control subjects (2/221; 0.9%). The mean age and the SD at onset of these homozygote patients with PD was 52 ± 15 years for fPD and 46 ± 7 years for sPD. The clinical features of these homozygote patients with PD did not differ from those of typical PD.

Conclusions: The homozygote polymorphism of 7048G7049 in intron 6 of the Nurr1 gene is associated with typical PD.




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