Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease

Nathan Pankratz, Michael W. Pauciulo, Veronika E. Elsaesser, Diane K. Marek, Cheyl A. Halter, Alice Rudolph, Clifford W. Shults, Tatiana Foroud, William C. Nichols, C. Shults, F. Marshall, D. Oakes, A. Shinaman, K. Marder, P. M. Conneally, K. Lyons, E. Siemers, S. Factor, D. Higgins, S. EvansH. Shill, M. Stacy, J. Danielson, L. Marlor, K. Williamson, J. Jankovic, C. Hunter, D. Simon, P. Ryan, L. Scollins, R. Saunders-Pullman, K. Boyar, C. Costan-Toth, E. Ohmann, L. Sudarsky, C. Joubert, J. Friedman, K. Chou, H. Fernandez, M. Lannon, N. Galvez-Jimenez, A. Podichetty, P. Lewitt, M. DeAngelis, C. O'Brien, L. Seeberger, C. Dingmann, D. Judd, J. Fraser, J. Harris, J. Bertoni, C. Peterson, S. Chouinard, M. Panisset, J. Hall, H. Poiffaut, V. Calabrese, P. Roberge, J. Wojcieszek, J. Belden, C. Halter, D. Jennings, K. Marek, S. Mendick, S. Reich, B. Dunlop, M. Jog, C. Horn, J. Rao, M. Cook, R. Uitti, M. Turk, T. Ajax, J. Mannetter, K. Sethi, J. Carpenter, K. Ligon, S. Narayan, L. Woodward, K. Blindauer, J. Petit, L. Elmer, E. Aiken, K. Davis, C. Schell, S. Wilson, M. Velickovic, W. Koller, S. Phipps, A. Feigin, M. Gordon, J. Hamann, E. Licari, M. Marotta-Kollarus, B. Shannon, R. Winnick, T. Simuni, A. Kaczmarek, K. Williams

Research output: Contribution to journalArticle

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

Original languageEnglish (US)
Pages (from-to)2257-2260
Number of pages4
JournalMovement Disorders
Volume21
Issue number12
DOIs
StatePublished - Dec 2006

Keywords

  • LRRK2
  • Mutation
  • Parkinso's disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Pankratz, N., Pauciulo, M. W., Elsaesser, V. E., Marek, D. K., Halter, C. A., Rudolph, A., Shults, C. W., Foroud, T., Nichols, W. C., Shults, C., Marshall, F., Oakes, D., Shinaman, A., Marder, K., Conneally, P. M., Lyons, K., Siemers, E., Factor, S., Higgins, D., ... Williams, K. (2006). Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease. Movement Disorders, 21(12), 2257-2260. https://doi.org/10.1002/mds.21162