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 Reider & 79 others Ali 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, Peter Lewitt, Maryan DeAngelis, Rajesh Pahwa, Stephanie Thomas, Daniel Truong, Mayank Pathak, An Tran, Robert Rodnitzky, Judith Dobson, William Koller, William Weiner, Kelly Lyons, Roger Kurlan, Debra Berry, John Bertoni, Carolyn Peterson, Wayne Martin, Paul Tuite, Robyn Schacherer, Karen Marder, Juliette Harris, Joseph Jankovic, Christine Hunter, Anthony Lang, Galit Kleimer-Fisman, Anette Nieves, Julie So, Stewart Factor, Sharon Evans, Bala Manyam, Brian Wulbrecht, Francis Walker, Victoria Hunt, Mark F. Gordon, Joanna Hamman, Un Jung Kang, Joan Young, Karen Blindauer, Jeannine Petit, Jayaraman Rao, Maureen Cook, Mark Stacy, Kelli Williamson, Rachel Saunders Pullman, Karyn Boyar, Maureen Leehey, Theresa Derian, Paul Gordon, Joan Werner

Research output: Contribution to journalArticle

Abstract

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
Volume19
Issue number6
DOIs
StatePublished - Jun 2004

Fingerprint

Parkinson Disease
Introns
Genes
DNA Restriction Enzymes
Age of Onset
Neurodegenerative Diseases
Digestion
Exons
Mutation

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Nichols, W. C., Uniacke, S. K., Pankratz, N., Reed, T., Simon, D. K., Halter, C., ... Werner, J. (2004). Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease. Movement Disorders, 19(6), 649-655. https://doi.org/10.1002/mds.20097

Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease. / Nichols, William C.; Uniacke, Sean K.; Pankratz, Nathan; Reed, Terry; Simon, David K.; Halter, Cheryl; Rudolph, Alice; Shults, Clifford W.; Conneally, P. Michael; Foroud, Tatiana; Wojcieszek, Joanne; Belden, Jo; Carter, Julie; Camicioli, Richard; Andrews, Pam; Panisset, Michel; Hall, Jean; Hubble, Jean; Fernandez, Magali; Reider, Carson; Rajput, Ali; Rajput, Alex; Shirley, Theresa; Mendis, Tilak; Grimes, David A.; Gray, Peggy; Ramos, Carmen Serrano; Roque, Sandra; Pfeiffer, Ronald; Pfeiffer, Brenda; Elmer, Lawrence; Davis, Kathy; Friedman, Joseph; Fernandez, Hubert; Lannon, Margaret; Reich, Stephen; Dunlop, Becky; Seeberger, Lauren; O'Brien, Christopher; Judd, Deborah; Hauser, Robert; Zesiewicz, Theresa; Delgado, Holly; Shults, Cliff; Fontaine, Deborah; Jennings, Danna; Marek, Kenneth; Mendick, Susan; Aminoff, Michael; DiMinno, Mariann; Lewitt, Peter; DeAngelis, Maryan; Pahwa, Rajesh; Thomas, Stephanie; Truong, Daniel; Pathak, Mayank; Tran, An; Rodnitzky, Robert; Dobson, Judith; Koller, William; Weiner, William; Lyons, Kelly; Kurlan, Roger; Berry, Debra; Bertoni, John; Peterson, Carolyn; Martin, Wayne; Tuite, Paul; Schacherer, Robyn; Marder, Karen; Harris, Juliette; Jankovic, Joseph; Hunter, Christine; Lang, Anthony; Kleimer-Fisman, Galit; Nieves, Anette; So, Julie; Factor, Stewart; Evans, Sharon; Manyam, Bala; Wulbrecht, Brian; Walker, Francis; Hunt, Victoria; Gordon, Mark F.; Hamman, Joanna; Kang, Un Jung; Young, Joan; Blindauer, Karen; Petit, Jeannine; Rao, Jayaraman; Cook, Maureen; Stacy, Mark; Williamson, Kelli; Pullman, Rachel Saunders; Boyar, Karyn; Leehey, Maureen; Derian, Theresa; Gordon, Paul; Werner, Joan.

In: Movement Disorders, Vol. 19, No. 6, 06.2004, p. 649-655.

Research output: Contribution to journalArticle

Nichols, WC, Uniacke, SK, Pankratz, N, Reed, T, Simon, DK, Halter, C, Rudolph, A, Shults, CW, Conneally, PM, Foroud, T, Wojcieszek, J, Belden, J, Carter, J, Camicioli, R, Andrews, P, Panisset, M, Hall, J, Hubble, J, Fernandez, M, Reider, C, Rajput, A, Rajput, A, Shirley, T, Mendis, T, Grimes, DA, Gray, P, Ramos, CS, Roque, S, Pfeiffer, R, Pfeiffer, B, Elmer, L, Davis, K, Friedman, J, Fernandez, H, Lannon, M, Reich, S, Dunlop, B, Seeberger, L, O'Brien, C, Judd, D, Hauser, R, Zesiewicz, T, Delgado, H, Shults, C, Fontaine, D, Jennings, D, Marek, K, Mendick, S, Aminoff, M, DiMinno, M, Lewitt, P, DeAngelis, M, Pahwa, R, Thomas, S, Truong, D, Pathak, M, Tran, A, Rodnitzky, R, Dobson, J, Koller, W, Weiner, W, Lyons, K, Kurlan, R, Berry, D, Bertoni, J, Peterson, C, Martin, W, Tuite, P, Schacherer, R, Marder, K, Harris, J, Jankovic, J, Hunter, C, Lang, A, Kleimer-Fisman, G, Nieves, A, So, J, Factor, S, Evans, S, Manyam, B, Wulbrecht, B, Walker, F, Hunt, V, Gordon, MF, Hamman, J, Kang, UJ, Young, J, Blindauer, K, Petit, J, Rao, J, Cook, M, Stacy, M, Williamson, K, Pullman, RS, Boyar, K, Leehey, M, Derian, T, Gordon, P & Werner, J 2004, 'Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease', Movement Disorders, vol. 19, no. 6, pp. 649-655. https://doi.org/10.1002/mds.20097
Nichols WC, Uniacke SK, Pankratz N, Reed T, Simon DK, Halter C et al. Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease. Movement Disorders. 2004 Jun;19(6):649-655. https://doi.org/10.1002/mds.20097
Nichols, William C. ; Uniacke, Sean K. ; Pankratz, Nathan ; Reed, Terry ; Simon, David K. ; Halter, Cheryl ; Rudolph, Alice ; Shults, Clifford W. ; Conneally, P. Michael ; Foroud, Tatiana ; Wojcieszek, Joanne ; Belden, Jo ; Carter, Julie ; Camicioli, Richard ; Andrews, Pam ; Panisset, Michel ; Hall, Jean ; Hubble, Jean ; Fernandez, Magali ; Reider, Carson ; Rajput, Ali ; Rajput, Alex ; Shirley, Theresa ; Mendis, Tilak ; Grimes, David A. ; Gray, Peggy ; Ramos, Carmen Serrano ; Roque, Sandra ; Pfeiffer, Ronald ; Pfeiffer, Brenda ; Elmer, Lawrence ; Davis, Kathy ; Friedman, Joseph ; Fernandez, Hubert ; Lannon, Margaret ; Reich, Stephen ; Dunlop, Becky ; Seeberger, Lauren ; O'Brien, Christopher ; Judd, Deborah ; Hauser, Robert ; Zesiewicz, Theresa ; Delgado, Holly ; Shults, Cliff ; Fontaine, Deborah ; Jennings, Danna ; Marek, Kenneth ; Mendick, Susan ; Aminoff, Michael ; DiMinno, Mariann ; Lewitt, Peter ; DeAngelis, Maryan ; Pahwa, Rajesh ; Thomas, Stephanie ; Truong, Daniel ; Pathak, Mayank ; Tran, An ; Rodnitzky, Robert ; Dobson, Judith ; Koller, William ; Weiner, William ; Lyons, Kelly ; Kurlan, Roger ; Berry, Debra ; Bertoni, John ; Peterson, Carolyn ; Martin, Wayne ; Tuite, Paul ; Schacherer, Robyn ; Marder, Karen ; Harris, Juliette ; Jankovic, Joseph ; Hunter, Christine ; Lang, Anthony ; Kleimer-Fisman, Galit ; Nieves, Anette ; So, Julie ; Factor, Stewart ; Evans, Sharon ; Manyam, Bala ; Wulbrecht, Brian ; Walker, Francis ; Hunt, Victoria ; Gordon, Mark F. ; Hamman, Joanna ; Kang, Un Jung ; Young, Joan ; Blindauer, Karen ; Petit, Jeannine ; Rao, Jayaraman ; Cook, Maureen ; Stacy, Mark ; Williamson, Kelli ; Pullman, Rachel Saunders ; Boyar, Karyn ; Leehey, Maureen ; Derian, Theresa ; Gordon, Paul ; Werner, Joan. / Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease. In: Movement Disorders. 2004 ; Vol. 19, No. 6. pp. 649-655.
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abstract = "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.",
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AU - Rudolph, Alice

AU - Shults, Clifford W.

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AU - Foroud, Tatiana

AU - Wojcieszek, Joanne

AU - Belden, Jo

AU - Carter, Julie

AU - Camicioli, Richard

AU - Andrews, Pam

AU - Panisset, Michel

AU - Hall, Jean

AU - Hubble, Jean

AU - Fernandez, Magali

AU - Reider, Carson

AU - Rajput, Ali

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AU - Evans, Sharon

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AU - Wulbrecht, Brian

AU - Walker, Francis

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AU - Gordon, Mark F.

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AB - 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.

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KW - Nurr1

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