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LRRK2 mutations in Parkinson disease.
1Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA. farrer.matthew@mayo.edu
Neurology
|September 15, 2005
Summary
Mutations in the LRRK2 gene are rare causes of idiopathic Parkinson disease (PD). This study found LRRK2 mutations in a small fraction of Parkinson disease patients and controls, indicating they are not a common cause.
Area of Science:
- Genetics
- Neurodegenerative Diseases
- Neurology
Background:
- Idiopathic Parkinson disease (PD) is a common neurodegenerative disorder.
- The genetic contribution to PD is complex, with several genes implicated.
- LRRK2 (Leucine-rich repeat kinase 2) is a gene of interest in Parkinson disease research.
Purpose of the Study:
- To investigate the frequency of LRRK2 mutations in a cohort of idiopathic Parkinson disease patients.
- To determine if identified LRRK2 mutations are associated with disease onset or familial aggregation.
Main Methods:
- Genotyping of 786 idiopathic PD probands, 32 affected siblings, 1,044 unaffected siblings, and 278 controls.
- Development and application of allelic discrimination assays for nine specific LRRK2 mutations.
Main Results:
- Six PD probands, one affected sibling, one unaffected sibling, and one unrelated control carried identified LRRK2 mutations.
- The overall frequency of these LRRK2 mutations in idiopathic PD was low.
Conclusions:
- LRRK2 mutations are infrequent causes of idiopathic Parkinson disease.
- The presence of LRRK2 mutations in unaffected individuals and controls suggests incomplete penetrance or other modifying factors.