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Comparative Study
. 2006 Feb;59(2):388-93.
doi: 10.1002/ana.20731.

Lrrk2 and Lewy body disease

Owen A Ross  1 , 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
Affiliations
Comparative Study

Lrrk2 and Lewy body disease

Owen A Ross et al. Ann Neurol. 2006 Feb.

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.

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