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. Evans & 79 others H. Shill, M. Stacy, J. Danielson, L. Marlor, K. Williamson, J. Jankovic, C. Hunter, D. Simon, P. Ryan, L. Scollins, R. Saunders-Pullman, Karyn 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

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Mutation
Parkinson Disease
Pedigree

Keywords

  • LRRK2
  • Mutation
  • Parkinso's disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Pankratz, N., Pauciulo, M. W., Elsaesser, V. E., Marek, D. K., Halter, C. A., Rudolph, A., ... 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

Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease. / Pankratz, Nathan; Pauciulo, Michael W.; Elsaesser, Veronika E.; Marek, Diane K.; Halter, Cheyl A.; Rudolph, Alice; Shults, Clifford W.; Foroud, Tatiana; Nichols, William C.; Shults, C.; Marshall, F.; Oakes, D.; Shinaman, A.; Marder, K.; Conneally, P. M.; Lyons, K.; Siemers, E.; Factor, S.; Higgins, D.; Evans, S.; Shill, H.; Stacy, M.; Danielson, J.; Marlor, L.; Williamson, K.; Jankovic, J.; Hunter, C.; Simon, D.; Ryan, P.; Scollins, L.; Saunders-Pullman, R.; Boyar, Karyn; Costan-Toth, C.; Ohmann, E.; Sudarsky, L.; Joubert, C.; Friedman, J.; Chou, K.; Fernandez, H.; Lannon, M.; Galvez-Jimenez, N.; Podichetty, A.; Lewitt, P.; DeAngelis, M.; O'Brien, C.; Seeberger, L.; Dingmann, C.; Judd, D.; Fraser, J.; Harris, J.; Bertoni, J.; Peterson, C.; Chouinard, S.; Panisset, M.; Hall, J.; Poiffaut, H.; Calabrese, V.; Roberge, P.; Wojcieszek, J.; Belden, J.; Halter, C.; Jennings, D.; Marek, K.; Mendick, S.; Reich, S.; Dunlop, B.; Jog, M.; Horn, C.; Rao, J.; Cook, M.; Uitti, R.; Turk, M.; Ajax, T.; Mannetter, J.; Sethi, K.; Carpenter, J.; Ligon, K.; Narayan, S.; Woodward, L.; Blindauer, K.; Petit, J.; Elmer, L.; Aiken, E.; Davis, K.; Schell, C.; Wilson, S.; Velickovic, M.; Koller, W.; Phipps, S.; Feigin, A.; Gordon, M.; Hamann, J.; Licari, E.; Marotta-Kollarus, M.; Shannon, B.; Winnick, R.; Simuni, T.; Kaczmarek, A.; Williams, K.

In: Movement Disorders, Vol. 21, No. 12, 12.2006, p. 2257-2260.

Research output: Contribution to journalArticle

Pankratz, N, Pauciulo, MW, Elsaesser, VE, Marek, DK, Halter, CA, Rudolph, A, Shults, CW, Foroud, T, Nichols, WC, Shults, C, Marshall, F, Oakes, D, Shinaman, A, Marder, K, Conneally, PM, Lyons, K, Siemers, E, Factor, S, Higgins, D, Evans, S, Shill, H, Stacy, M, Danielson, J, Marlor, L, Williamson, K, Jankovic, J, Hunter, C, Simon, D, Ryan, P, Scollins, L, Saunders-Pullman, R, Boyar, K, Costan-Toth, C, Ohmann, E, Sudarsky, L, Joubert, C, Friedman, J, Chou, K, Fernandez, H, Lannon, M, Galvez-Jimenez, N, Podichetty, A, Lewitt, P, DeAngelis, M, O'Brien, C, Seeberger, L, Dingmann, C, Judd, D, Fraser, J, Harris, J, Bertoni, J, Peterson, C, Chouinard, S, Panisset, M, Hall, J, Poiffaut, H, Calabrese, V, Roberge, P, Wojcieszek, J, Belden, J, Halter, C, Jennings, D, Marek, K, Mendick, S, Reich, S, Dunlop, B, Jog, M, Horn, C, Rao, J, Cook, M, Uitti, R, Turk, M, Ajax, T, Mannetter, J, Sethi, K, Carpenter, J, Ligon, K, Narayan, S, Woodward, L, Blindauer, K, Petit, J, Elmer, L, Aiken, E, Davis, K, Schell, C, Wilson, S, Velickovic, M, Koller, W, Phipps, S, Feigin, A, Gordon, M, Hamann, J, Licari, E, Marotta-Kollarus, M, Shannon, B, Winnick, R, Simuni, T, Kaczmarek, A & Williams, K 2006, 'Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease', Movement Disorders, vol. 21, no. 12, pp. 2257-2260. https://doi.org/10.1002/mds.21162
Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, Rudolph A et al. Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease. Movement Disorders. 2006 Dec;21(12):2257-2260. https://doi.org/10.1002/mds.21162
Pankratz, Nathan ; Pauciulo, Michael W. ; Elsaesser, Veronika E. ; Marek, Diane K. ; Halter, Cheyl A. ; Rudolph, Alice ; Shults, Clifford W. ; Foroud, Tatiana ; Nichols, William C. ; Shults, C. ; Marshall, F. ; Oakes, D. ; Shinaman, A. ; Marder, K. ; Conneally, P. M. ; Lyons, K. ; Siemers, E. ; Factor, S. ; Higgins, D. ; Evans, S. ; Shill, H. ; Stacy, M. ; Danielson, J. ; Marlor, L. ; Williamson, K. ; Jankovic, J. ; Hunter, C. ; Simon, D. ; Ryan, P. ; Scollins, L. ; Saunders-Pullman, R. ; Boyar, Karyn ; Costan-Toth, C. ; Ohmann, E. ; Sudarsky, L. ; Joubert, C. ; Friedman, J. ; Chou, K. ; Fernandez, H. ; Lannon, M. ; Galvez-Jimenez, N. ; Podichetty, A. ; Lewitt, P. ; DeAngelis, M. ; O'Brien, C. ; Seeberger, L. ; Dingmann, C. ; Judd, D. ; Fraser, J. ; Harris, J. ; Bertoni, J. ; Peterson, C. ; Chouinard, S. ; Panisset, M. ; Hall, J. ; Poiffaut, H. ; Calabrese, V. ; Roberge, P. ; Wojcieszek, J. ; Belden, J. ; Halter, C. ; Jennings, D. ; Marek, K. ; Mendick, S. ; Reich, S. ; Dunlop, B. ; Jog, M. ; Horn, C. ; Rao, J. ; Cook, M. ; Uitti, R. ; Turk, M. ; Ajax, T. ; Mannetter, J. ; Sethi, K. ; Carpenter, J. ; Ligon, K. ; Narayan, S. ; Woodward, L. ; Blindauer, K. ; Petit, J. ; Elmer, L. ; Aiken, E. ; Davis, K. ; Schell, C. ; Wilson, S. ; Velickovic, M. ; Koller, W. ; Phipps, S. ; Feigin, A. ; Gordon, M. ; Hamann, J. ; Licari, E. ; Marotta-Kollarus, M. ; Shannon, B. ; Winnick, R. ; Simuni, T. ; Kaczmarek, A. ; Williams, K. / Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease. In: Movement Disorders. 2006 ; Vol. 21, No. 12. pp. 2257-2260.
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title = "Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease",
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",
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author = "Nathan Pankratz and Pauciulo, {Michael W.} and Elsaesser, {Veronika E.} and Marek, {Diane K.} and Halter, {Cheyl A.} and Alice Rudolph and Shults, {Clifford W.} and Tatiana Foroud and Nichols, {William C.} and C. Shults and F. Marshall and D. Oakes and A. Shinaman and K. Marder and Conneally, {P. M.} and K. Lyons and E. Siemers and S. Factor and D. Higgins and S. Evans and H. Shill and M. Stacy and J. Danielson and L. Marlor and K. Williamson and J. Jankovic and C. Hunter and D. Simon and P. Ryan and L. Scollins and R. Saunders-Pullman and Karyn Boyar and C. Costan-Toth and E. Ohmann and L. Sudarsky and C. Joubert and J. Friedman and K. Chou and H. Fernandez and M. Lannon and N. Galvez-Jimenez and A. Podichetty and P. Lewitt and M. DeAngelis and C. O'Brien and L. Seeberger and C. Dingmann and D. Judd and J. Fraser and J. Harris and J. Bertoni and C. Peterson and S. Chouinard and M. Panisset and J. Hall and H. Poiffaut and V. Calabrese and P. Roberge and J. Wojcieszek and J. Belden and C. Halter and D. Jennings and K. Marek and S. Mendick and S. Reich and B. Dunlop and M. Jog and C. Horn and J. Rao and M. Cook and R. Uitti and M. Turk and T. Ajax and J. Mannetter and K. Sethi and J. Carpenter and K. Ligon and S. Narayan and L. Woodward and K. Blindauer and J. Petit and L. Elmer and E. Aiken and K. Davis and C. Schell and S. Wilson and M. Velickovic and W. Koller and S. Phipps and A. Feigin and M. Gordon and J. Hamann and E. Licari and M. Marotta-Kollarus and B. Shannon and R. Winnick and T. Simuni and A. Kaczmarek and K. Williams",
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T1 - Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease

AU - Pankratz, Nathan

AU - Pauciulo, Michael W.

AU - Elsaesser, Veronika E.

AU - Marek, Diane K.

AU - Halter, Cheyl A.

AU - Rudolph, Alice

AU - Shults, Clifford W.

AU - Foroud, Tatiana

AU - Nichols, William C.

AU - Shults, C.

AU - Marshall, F.

AU - Oakes, D.

AU - Shinaman, A.

AU - Marder, K.

AU - Conneally, P. M.

AU - Lyons, K.

AU - Siemers, E.

AU - Factor, S.

AU - Higgins, D.

AU - Evans, S.

AU - Shill, H.

AU - Stacy, M.

AU - Danielson, J.

AU - Marlor, L.

AU - Williamson, K.

AU - Jankovic, J.

AU - Hunter, C.

AU - Simon, D.

AU - Ryan, P.

AU - Scollins, L.

AU - Saunders-Pullman, R.

AU - Boyar, Karyn

AU - Costan-Toth, C.

AU - Ohmann, E.

AU - Sudarsky, L.

AU - Joubert, C.

AU - Friedman, J.

AU - Chou, K.

AU - Fernandez, H.

AU - Lannon, M.

AU - Galvez-Jimenez, N.

AU - Podichetty, A.

AU - Lewitt, P.

AU - DeAngelis, M.

AU - O'Brien, C.

AU - Seeberger, L.

AU - Dingmann, C.

AU - Judd, D.

AU - Fraser, J.

AU - Harris, J.

AU - Bertoni, J.

AU - Peterson, C.

AU - Chouinard, S.

AU - Panisset, M.

AU - Hall, J.

AU - Poiffaut, H.

AU - Calabrese, V.

AU - Roberge, P.

AU - Wojcieszek, J.

AU - Belden, J.

AU - Halter, C.

AU - Jennings, D.

AU - Marek, K.

AU - Mendick, S.

AU - Reich, S.

AU - Dunlop, B.

AU - Jog, M.

AU - Horn, C.

AU - Rao, J.

AU - Cook, M.

AU - Uitti, R.

AU - Turk, M.

AU - Ajax, T.

AU - Mannetter, J.

AU - Sethi, K.

AU - Carpenter, J.

AU - Ligon, K.

AU - Narayan, S.

AU - Woodward, L.

AU - Blindauer, K.

AU - Petit, J.

AU - Elmer, L.

AU - Aiken, E.

AU - Davis, K.

AU - Schell, C.

AU - Wilson, S.

AU - Velickovic, M.

AU - Koller, W.

AU - Phipps, S.

AU - Feigin, A.

AU - Gordon, M.

AU - Hamann, J.

AU - Licari, E.

AU - Marotta-Kollarus, M.

AU - Shannon, B.

AU - Winnick, R.

AU - Simuni, T.

AU - Kaczmarek, A.

AU - Williams, K.

PY - 2006/12

Y1 - 2006/12

N2 - 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

AB - 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

KW - LRRK2

KW - Mutation

KW - Parkinso's disease

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