2. Academic Validation
  3. Lrrk2 and Lewy body disease

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

Affiliation

  • 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.

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