Assessment of Nurr1 nucleotide variations in familial Parkinson's disease

Parkinson's disease (PD) is characterised by the death of dopaminergic neurons of the substantia nigra. As Nurr1 seems to regulate the development and maintenance of these neurons, we evaluated its potential role in Parkinson's disease using genetic methods. We genotyped two polymorphisms and screened a case-control sample for the presence/absence of two mutations recently described in exon 1. Our results failed to replicate the association initially observed and none of the mutations were present in our familial Parkinson's disease cases. These observations suggest that this gene is unlikely to play a major effect in French familial Parkinson disease.