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; 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

doi:10.1002/mds.20097

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, 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

Neurology

Research output: Contribution to journal › Article › peer-review

32 Scopus citations

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 language	English (US)
Pages (from-to)	649-655
Number of pages	7
Journal	Movement Disorders
Volume	19
Issue number	6
DOIs	https://doi.org/10.1002/mds.20097
State	Published - Jun 2004

Keywords

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

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/mds.20097

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Nichols, W. C., Uniacke, S. K., Pankratz, N., Reed, T., Simon, D. K., Halter, C., Rudolph, A., Shults, C. W., Conneally, P. M., Foroud, T., Wojcieszek, J., Belden, J., Carter, J., Camicioli, R., Andrews, P., Panisset, M., Hall, J., Hubble, J., Fernandez, M., ... 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

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

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title = "Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease",

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

year = "2004",

month = jun,

doi = "10.1002/mds.20097",

language = "English (US)",

volume = "19",

pages = "649--655",

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AU - Uniacke, Sean K.

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AU - Reed, Terry

AU - Simon, David K.

AU - Halter, Cheryl

AU - Rudolph, Alice

AU - Shults, Clifford W.

AU - Conneally, P. Michael

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

AU - Rajput, Alex

AU - Shirley, Theresa

AU - Mendis, Tilak

AU - Grimes, David A.

AU - Gray, Peggy

AU - Ramos, Carmen Serrano

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AU - Pfeiffer, Ronald

AU - Pfeiffer, Brenda

AU - Elmer, Lawrence

AU - Davis, Kathy

AU - Friedman, Joseph

AU - Fernandez, Hubert

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AU - Reich, Stephen

AU - Dunlop, Becky

AU - Seeberger, Lauren

AU - O'Brien, Christopher

AU - Judd, Deborah

AU - Hauser, Robert

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AU - Marek, Kenneth

AU - Mendick, Susan

AU - Aminoff, Michael

AU - DiMinno, Mariann

AU - Lewitt, Peter

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AU - Martin, Wayne

AU - Tuite, Paul

AU - Schacherer, Robyn

AU - Marder, Karen

AU - Harris, Juliette

AU - Jankovic, Joseph

AU - Hunter, Christine

AU - Lang, Anthony

AU - Kleimer-Fisman, Galit

AU - Nieves, Anette

AU - So, Julie

AU - Factor, Stewart

AU - Evans, Sharon

AU - Manyam, Bala

AU - Wulbrecht, Brian

AU - Walker, Francis

AU - Hunt, Victoria

AU - Gordon, Mark F.

AU - Hamman, Joanna

AU - Kang, Un Jung

AU - Young, Joan

AU - Blindauer, Karen

AU - Petit, Jeannine

AU - Rao, Jayaraman

AU - Cook, Maureen

AU - Stacy, Mark

AU - Williamson, Kelli

AU - Pullman, Rachel Saunders

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AU - Leehey, Maureen

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AU - Gordon, Paul

AU - Werner, Joan

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N2 - 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.

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.

KW - Familial Parkinson's disease

KW - Genetic factors

KW - Intron 6 polymorphism

KW - Nurr1

KW - Susceptibility locus

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DO - 10.1002/mds.20097

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EP - 655

JO - Movement Disorders

JF - Movement Disorders

IS - 6

ER -

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

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Keywords

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