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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.

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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.

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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.