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Lrrk2 R1441 substitution and progressive supranuclear palsy
O A Ross1, A J Whittle, S A Cobb
1Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA. ross.owen@mayo.edu
Neuropathology and Applied Neurobiology
|January 18, 2006
Summary
Mutations in the LRRK2 gene are linked to parkinsonism. However, the R1441C variant was not found in patients with progressive supranuclear palsy (PSP), suggesting it does not increase PSP susceptibility.
Area of Science:
- Neurogenetics
- Neurodegenerative Diseases
Background:
- The Leucine-Rich Repeat Kinase 2 (LRRK2) gene is a known cause of autosomal dominant parkinsonism.
- A specific LRRK2 mutation, R1441C, was identified in a family with diverse neuropathological findings, including one member with pathology resembling progressive supranuclear palsy (PSP).
Purpose of the Study:
- To investigate the potential role of LRRK2 mutations at the R1441 residue in the development of progressive supranuclear palsy (PSP).
- To determine if the R1441C LRRK2 variant contributes to PSP susceptibility.
Main Methods:
- Screening of 242 pathologically confirmed cases of progressive supranuclear palsy (PSP).
- Genetic analysis focused on the R1441 codon of the LRRK2 gene.
Main Results:
- No mutations were detected at the R1441 codon of the LRRK2 gene in the cohort of PSP cases.
- The R1441C LRRK2 variant was not found in pathologically confirmed PSP patients.
Conclusions:
- The LRRK2 R1441C variant does not appear to be a significant risk factor for developing progressive supranuclear palsy (PSP).
- These findings help to delineate the specific genetic contributions to different neurodegenerative disorders, distinguishing parkinsonism from PSP.