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Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease

2006; Wiley; Volume: 21; Issue: 12 Linguagem: Inglês

10.1002/mds.21162

1531-8257

Nathan Pankratz, Michael W. Pauciulo, Veronika E. Elsaesser, Diane K. Marek, C. A. Halter, Alice Rudolph, Clifford W. Shults, Tatiana Foroud, William C. Nichols, Cliff Shults, Frederick J. Marshall, David Oakes, Aileen Shinaman, Karen Marder, P.M. Conneally, Kelly E. Lyons, Eric Siemers, Stewart A. Factor, Donald S. Higgins, Scott Evans, Holly A. Shill, Mark Stacy, J. Danielson, L. Marlor, Kathy Williamson, Joseph Jankovic, Christine Hunter, David K. Simon, Paula D. Ryan, Lisa Scollins, Rachel Saunders‐Pullman, Karyn Boyar, C. Costan-Toth, Erich Ohmann, Lewis Sudarsky, Caroline Joubert, Joseph H. Friedman, Kelvin L. Chou, Hubert Fernandez, Michelle Lannon, Néstor Gálvez-Jiménez, A. Podichetty, Peter A. LeWitt, Margaret M. DeAngelis, C. O’Brien, Lauren Seeberger, Colleen Dingmann, Dale P. Judd, James A. Fraser, Juliette Harris, John M. Bertoni, Charles M. Peterson, S. Chouinard, Michel Panisset, Jacqueline A. Hall, H. Poiffaut, Vittorio Calabrese, Pasquale Roberge, Joanne Wojcieszek, Joann Belden, C. A. Halter, D. Jennings, Kenneth Marek, Susan Mendick, Stephen G. Reich, Boadie W. Dunlop, Mandar Jog, C. Horn, J. Rao, Megan Cook, Ryan J. Uitti, Martin Turk, T. Ajax, J. Mannetter, Kapil D. Sethi, James W. Carpenter, Keith L. Ligon, Sushma Narayan, L. Woodward, Karen Blindauer, Jacques Petit, Lawrence Elmer, Emily Aiken, Kathryn Davis, Christoph Schell, Samantha L. Wilson, M. Veličković, William C. Koller, Simon Phipps, Andrew Feigin, Mark Forrest Gordon, Jörg Hamann, Elisa Licari, M. Marotta-Kollarus, Barbara Shannon, R. Winnick, Tanya Simuni, Alexander Tobias Kaczmarek, Karen Williams,

Banana Cultivation and Research

Abstract A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent. © 2006 Movement Disorder Society