Lrrk2 and Lewy body disease
Top Cited Papers
- 25 January 2006
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 59 (2) , 388-393
- https://doi.org/10.1002/ana.20731
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. Ann Neurol 2006;59:388–393Keywords
Funding Information
- Brain Endowment Bank which was sponsored by NPF
- OAR awarded NPF fellowhip
- Morris K. Udall Parkinson's Disease Research Center of Excellence National Institute of Neurological Disorders and Stroke (P50 NS40256)
- State of Florida Alzheimer Disease Initiative
- Society for Progressive Supranuclear Palsy
- NIH
- National Institute on Aging (P01 AG17216)
- National Institute of Environmental Health Sciences (R01 ES013941)
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