| Autor: |
Francis O. Walker, Juliette Harris, Holly Delgado, David Simon, Paul J. Tuite, Jayaraman Rao, Kelly E. Lyons, Tilak Mendis, Bala V. Manyam, Joanna Hamman, Deborah Fontaine, Terry Reed, William C. Nichols, Sharon Evans, Joanne Wojcieszek, Peggy Gray, Anette Nieves, Carson Reider, P. Michael Conneally, W.R. Wayne Martin, Kathy Davis, Christine Hunter, Daniel D. Truong, John M. Bertoni, Hubert H. Fernandez, Joseph H. Friedman, Nathan Pankratz, Margaret C. Lannon, Kenneth Marek, Maryan DeAngelis, Mark Stacy, Debra Berry, Mariann DiMinno, Robyn Schacherer, Becky Dunlop, Michel Panisset, Carmen Serrano Ramos, Alice Rudolph, Tatiana Foroud, Theresa A. Zesiewicz, David Grimes, An Tran, Joan Werner, Jean Hall, Sandra Roque, Magali Fernandez, Joseph Jankovic, Michael J. Aminoff, Rachel Saunders Pullman, Maureen A. Leehey, Cliff Shults, Deborah Judd, William C. Koller, Mark Forrest Gordon, Cheryl Halter, Ali H. Rajput, Pam Andrews, Stephen G. Reich, Theresa Derian, Alex Rajput, Stephanie Thomas, Galit Kleimer-Fisman, Susan Mendick, Robert A. Hauser, Danna Jennings, Paul Gordon, Stewart A. Factor, Peter A. LeWitt, Un Jung Kang, Karyn Boyar, Ronald F. Pfeiffer, Robert L. Rodnitzky, Jean P. Hubble, Jeannine Petit, Mayank Pathak, Julie H. Carter, Maureen Cook, William J. Weiner, Rajesh Pahwa, Christopher F. O'Brien, Karen Marder, Joan Young, Judith Dobson, Richard Camicioli, Lawrence Elmer, Jo Belden, Julie So, Theresa Shirley, Anthony E. Lang, Roger Kurlan, Kelli Williamson, Brenda Pfeiffer, Victoria Hunt, Sean K. Uniacke, Clifford W. Shults, Karen Blindauer, Lauren Seeberger, Brian Wulbrecht, Carolyn Peterson |
| Rok vydání: |
2004 |
| Předmět: |
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| Zdroj: |
Movement Disorders. 19:649-655 |
| ISSN: |
1531-8257
0885-3185 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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