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Mutations in four genes (α-synuclein, UCH-L1, parkin, and DJ-1) have been identified in familial Parkinson disease (PD). Recently, two mutations in the 5′-region of the orphan nuclear receptor Nurr1 (NR4A2) gene have been found in 10% of familial PD cases, of which one-third were of German ancestry.1 Furthermore, a polymorphism in intron 6 of the Nurr1 gene was associated with PD in two independent studies.2,3⇓
The transcription factor Nurr1 is highly expressed in dopaminergic cells of the substantia nigra. Deficiency of Nurr1 in mice leads to a lack of dopaminergic neurons.4 Based on these data, we explored the 7048G7049 polymorphism in intron 6 as well as two novel sequence variations, −291Tdel and −245T→G, in exon 1 of Nurr1 in a large cohort of PD patients.
For analysis of the 7048G7049 polymorphism, 424 PD patients were investigated (mean age at disease onset 55.4 ± 12.1 years; 54.6% male, 45.4% female; with 55 patients [13.0%] having a positive family history). For analysis of the two novel sequence variations, −291Tdel and −245T→G, …
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