Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease

William C. Nichols, Sean K. Uniacke, Nathan Pankratz, Terry Reed, David K. Simon, Cheryl Halter, Alice Rudolph, Clifford W. Shults, P. Michael Conneally, Tatiana Foroud, Joanne Wojcieszek, Jo Belden, Julie Carter, Richard Camicioli, Pam Andrews, Michel Panisset, Jean Hall, Jean Hubble, Magali Fernandez, Carson ReiderAli Rajput, Alex Rajput, Theresa Shirley, Tilak Mendis, David A. Grimes, Peggy Gray, Carmen Serrano Ramos, Sandra Roque, Ronald Pfeiffer, Brenda Pfeiffer, Lawrence Elmer, Kathy Davis, Joseph Friedman, Hubert Fernandez, Margaret Lannon, Stephen Reich, Becky Dunlop, Lauren Seeberger, Christopher O'Brien, Deborah Judd, Robert Hauser, Theresa Zesiewicz, Holly Delgado, Cliff Shults, Deborah Fontaine, Danna Jennings, Kenneth Marek, Susan Mendick, Michael Aminoff, Mariann DiMinno

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32 Scopus citations


Parkinson's disease (PD) is a common neurodegenerative disorder in humans with wide variability in the age of disease onset. Although the disease has been thought previously to occur sporadically in most patients, there is increasing evidence of a genetic contribution to the disorder. Recently, a polymorphic variant within intron 6 of the Nurr1 gene was reported to be associated with sporadic and familial PD. In an effort to identify susceptibility genes for PD, we have collected 783 PD patients from 372 families and 397 healthy controls from 217 families. PD patients and healthy controls were genotyped for the intron 6 insertion polymorphism by BseRI restriction endonuclease digestion. No significant difference in either homozygosity or heterozygosity for the 7048G7049 (IVS6 1361 +16insG) polymorphism was detected in the PD patient cohort as compared with the panel of healthy controls. Moreover, direct sequencing of exon 1 of the Nurr1 gene in PD patients failed to detect either of the two recently reported Nurr1 mutations identified in a small subset of a PD patient cohort. Taken together, these data suggest that genetic alteration at the Nurr1 locus is not a significant risk factor for the development of Parkinson's disease in our large sample of familial PD patients.

Original languageEnglish (US)
Pages (from-to)649-655
Number of pages7
JournalMovement Disorders
Issue number6
StatePublished - Jun 2004


  • Familial Parkinson's disease
  • Genetic factors
  • Intron 6 polymorphism
  • Nurr1
  • Susceptibility locus


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