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Updated: Jul 30, 2026
06:09
Assaying the Kinase Activity of LRRK2 in vitro
Published on: January 18, 2012
Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis
A J Whittle1, O A Ross, A Naini
1Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA.
Journal of Neural Transmission (Vienna, Austria : 1996)
|July 26, 2006
Summary
A specific Lrrk2 gene mutation causes a neurodegenerative disorder similar to ALS and Parkinsonism-Dementia Complex. Screening 54 ALS patients found no Lrrk2 mutations, suggesting this gene locus is not a primary cause of ALS.
Area of Science:
- Neurogenetics
- Neurodegenerative Diseases
- Molecular Biology
Background:
- A pathogenic Leucine-Rich Repeat Kinase 2 (LRRK2) Y1699C substitution is linked to a neurodegenerative disorder resembling amyotrophic lateral sclerosis (ALS) and Parkinsonism-Dementia Complex.
- The LRRK2 gene is implicated in various neurodegenerative conditions, making it a candidate for genetic investigation in related disorders.
Purpose of the Study:
- To investigate the role of known pathogenic LRRK2 substitutions in patients diagnosed with amyotrophic lateral sclerosis (ALS).
- To determine if mutations in the LRRK2 gene contribute to the ALS phenotype in a cohort of patients.
Main Methods:
- Genetic screening of 54 patients with ALS.
- Targeted analysis of seven known pathogenic LRRK2 substitutions within the Roc, COR, and kinase domains.
Main Results:
- No pathogenic LRRK2 mutations were identified in the screened cohort of ALS patients.
- The screened LRRK2 locus did not appear to be a major genetic factor influencing the ALS phenotype in this group.
Conclusions:
- The investigated LRRK2 mutations do not seem to be a primary cause of amyotrophic lateral sclerosis.
- Further research into other genetic variations within the LRRK2 locus is warranted for parkinsonian disorders with ALS features.
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