Lrrk2 and Lewy body disease

Owen A. Ross, Mathias Toft, Andrew J. Whittle, Joseph L. Johnson, Spiridon Papapetropoulos, Deborah C Mash, Irene Litvan, Mark F. Gordon, Zbigniew K. Wszolek, Matthew J. Farrer, Dennis W. Dickson

Research output: Contribution to journalArticle

204 Citations (Scopus)

Abstract

Objective: The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism. Patients harboring the G2019S substitution usually present with clinical Parkinson's disease. Methods: Herein, we report that the most common neuropathology of G2019S-associated Parkinson's disease is Lewy body disease. Results: Lrrk2 G2019S was observed in approximately 2% (n = 8) of our Parkinson's disease/Lewy body disease cases (n = 405). The mutation was also found in one control subject and one Alzheimer's disease patient, reflecting reduced penetrance. Interpretation: Therapeutic strategies targeted at modulating Lrrk2 kinase activity may be important to treat patients with genetically defined familial or typical sporadic Parkinson's disease.

Original languageEnglish
Pages (from-to)388-393
Number of pages6
JournalAnnals of Neurology
Volume59
Issue number2
DOIs
StatePublished - Feb 1 2006

Fingerprint

Lewy Body Disease
Parkinson Disease
Phosphotransferases
Penetrance
Parkinsonian Disorders
Alzheimer Disease
Mutation
Therapeutics

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Ross, O. A., Toft, M., Whittle, A. J., Johnson, J. L., Papapetropoulos, S., Mash, D. C., ... Dickson, D. W. (2006). Lrrk2 and Lewy body disease. Annals of Neurology, 59(2), 388-393. https://doi.org/10.1002/ana.20731

Lrrk2 and Lewy body disease. / Ross, Owen A.; Toft, Mathias; Whittle, Andrew J.; Johnson, Joseph L.; Papapetropoulos, Spiridon; Mash, Deborah C; Litvan, Irene; Gordon, Mark F.; Wszolek, Zbigniew K.; Farrer, Matthew J.; Dickson, Dennis W.

In: Annals of Neurology, Vol. 59, No. 2, 01.02.2006, p. 388-393.

Research output: Contribution to journalArticle

Ross, OA, Toft, M, Whittle, AJ, Johnson, JL, Papapetropoulos, S, Mash, DC, Litvan, I, Gordon, MF, Wszolek, ZK, Farrer, MJ & Dickson, DW 2006, 'Lrrk2 and Lewy body disease', Annals of Neurology, vol. 59, no. 2, pp. 388-393. https://doi.org/10.1002/ana.20731
Ross OA, Toft M, Whittle AJ, Johnson JL, Papapetropoulos S, Mash DC et al. Lrrk2 and Lewy body disease. Annals of Neurology. 2006 Feb 1;59(2):388-393. https://doi.org/10.1002/ana.20731
Ross, Owen A. ; Toft, Mathias ; Whittle, Andrew J. ; Johnson, Joseph L. ; Papapetropoulos, Spiridon ; Mash, Deborah C ; Litvan, Irene ; Gordon, Mark F. ; Wszolek, Zbigniew K. ; Farrer, Matthew J. ; Dickson, Dennis W. / Lrrk2 and Lewy body disease. In: Annals of Neurology. 2006 ; Vol. 59, No. 2. pp. 388-393.
@article{4a3b6985abe844a0a7072acafedf5271,
title = "Lrrk2 and Lewy body disease",
abstract = "Objective: The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism. Patients harboring the G2019S substitution usually present with clinical Parkinson's disease. Methods: Herein, we report that the most common neuropathology of G2019S-associated Parkinson's disease is Lewy body disease. Results: Lrrk2 G2019S was observed in approximately 2{\%} (n = 8) of our Parkinson's disease/Lewy body disease cases (n = 405). The mutation was also found in one control subject and one Alzheimer's disease patient, reflecting reduced penetrance. Interpretation: Therapeutic strategies targeted at modulating Lrrk2 kinase activity may be important to treat patients with genetically defined familial or typical sporadic Parkinson's disease.",
author = "Ross, {Owen A.} and Mathias Toft and Whittle, {Andrew J.} and Johnson, {Joseph L.} and Spiridon Papapetropoulos and Mash, {Deborah C} and Irene Litvan and Gordon, {Mark F.} and Wszolek, {Zbigniew K.} and Farrer, {Matthew J.} and Dickson, {Dennis W.}",
year = "2006",
month = "2",
day = "1",
doi = "10.1002/ana.20731",
language = "English",
volume = "59",
pages = "388--393",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "2",

}

TY - JOUR

T1 - Lrrk2 and Lewy body disease

AU - Ross, Owen A.

AU - Toft, Mathias

AU - Whittle, Andrew J.

AU - Johnson, Joseph L.

AU - Papapetropoulos, Spiridon

AU - Mash, Deborah C

AU - Litvan, Irene

AU - Gordon, Mark F.

AU - Wszolek, Zbigniew K.

AU - Farrer, Matthew J.

AU - Dickson, Dennis W.

PY - 2006/2/1

Y1 - 2006/2/1

N2 - Objective: The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism. Patients harboring the G2019S substitution usually present with clinical Parkinson's disease. Methods: Herein, we report that the most common neuropathology of G2019S-associated Parkinson's disease is Lewy body disease. Results: Lrrk2 G2019S was observed in approximately 2% (n = 8) of our Parkinson's disease/Lewy body disease cases (n = 405). The mutation was also found in one control subject and one Alzheimer's disease patient, reflecting reduced penetrance. Interpretation: Therapeutic strategies targeted at modulating Lrrk2 kinase activity may be important to treat patients with genetically defined familial or typical sporadic Parkinson's disease.

AB - Objective: The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism. Patients harboring the G2019S substitution usually present with clinical Parkinson's disease. Methods: Herein, we report that the most common neuropathology of G2019S-associated Parkinson's disease is Lewy body disease. Results: Lrrk2 G2019S was observed in approximately 2% (n = 8) of our Parkinson's disease/Lewy body disease cases (n = 405). The mutation was also found in one control subject and one Alzheimer's disease patient, reflecting reduced penetrance. Interpretation: Therapeutic strategies targeted at modulating Lrrk2 kinase activity may be important to treat patients with genetically defined familial or typical sporadic Parkinson's disease.

UR - http://www.scopus.com/inward/record.url?scp=32044466285&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=32044466285&partnerID=8YFLogxK

U2 - 10.1002/ana.20731

DO - 10.1002/ana.20731

M3 - Article

C2 - 16437559

AN - SCOPUS:32044466285

VL - 59

SP - 388

EP - 393

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 2

ER -