Lrrk2 and Lewy body disease

  • Ann Neurol. 2006 Feb;59(2):388-93. doi: 10.1002/ana.20731.
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
  • 1. Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA.
PMID: 16437559 DOI: 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.