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

doi:10.1002/ana.20731

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 journal › Article › peer-review

207 Scopus citations

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 language	English (US)
Pages (from-to)	388-393
Number of pages	6
Journal	Annals of neurology
Volume	59
Issue number	2
DOIs	https://doi.org/10.1002/ana.20731
State	Published - Feb 2006

ASJC Scopus subject areas

Neurology
Clinical Neurology

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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 = feb,

doi = "10.1002/ana.20731",

language = "English (US)",

volume = "59",

pages = "388--393",

journal = "Annals of neurology",

issn = "0364-5134",

publisher = "John Wiley and Sons Inc.",

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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

Y1 - 2006/2

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.

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JO - Annals of neurology

JF - Annals of neurology

IS - 2

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Lrrk2 and Lewy body disease

Abstract

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