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Lrrk2 and Lewy body disease
Owen A Ross1, Mathias Toft, Andrew J Whittle
1Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA.
Annals of Neurology
|January 27, 2006
Summary
The most common genetic cause of Parkinson's disease, the Lrrk2 G2019S mutation, is linked to Lewy body disease pathology. This finding may inform future treatments targeting Lrrk2 kinase activity.
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- The Leucine-Rich Repeat Kinase 2 (LRRK2) G2019S substitution is a primary genetic driver for both familial and sporadic forms of parkinsonism.
- Individuals with the LRRK2 G2019S substitution typically exhibit clinical symptoms of Parkinson's disease.
Purpose of the Study:
- To identify the predominant neuropathological correlate of Parkinson's disease associated with the LRRK2 G2019S mutation.
Main Methods:
- Analysis of neuropathological findings in a cohort of Parkinson's disease patients.
- Genotyping for the LRRK2 G2019S mutation in Parkinson's disease and control cases.
Main Results:
- Lewy body disease was identified as the most frequent neuropathology in G2019S-associated Parkinson's disease.
- The LRRK2 G2019S mutation was present in approximately 2% of Parkinson's disease/Lewy body disease cases (8/405).
- Reduced penetrance was suggested by the mutation's presence in one control and one Alzheimer's disease patient.
Conclusions:
- Therapeutic interventions aimed at modulating LRRK2 kinase activity hold potential for treating patients with genetically defined familial or typical sporadic Parkinson's disease.