The Incidence of Mutation on the Leucine-rich Repeat Kinase 2 Gene in Patients with Parkinson’s Disease in Slovakia

Česká verzia

Authors: K. Kračunová ¹; M. Kovačovicová ²; M. Baldovič ²; P. Valkovič ^3,4; Ľ. Kádaši ²; J. Benetin ¹
Authors place of work: Neurologická klinika SZU a UN Bratislava ¹; Katedra molekulárnej biológie PriF UK v Bratislave ²; II. Neurologická klinika LF UK a UN Bratislava ³; Ústav normálnej a patologickej fyziológie SAV, Bratislava ⁴
Published in the journal: Cesk Slov Neurol N 2011; 74/107(4): 443-445
Category: Original Paper

Summary

Introduction:
The objective of this study was to determine the prevalence of LRRK2gene mutations in Slovak PD patients. Patients and methods: 126 PD patients (78 men, 48 women) were included in the study. The average age of this population was 57 years. Twenty-four patients (19.1%) reported a positive family history of parkinsonism; Hoehn-Yahr stage was between 1 and 5 (mean 2.6). There were 19 patients with early-onset parkinsonism (beginning before the age of 45) in the group. All subjects were screened for selected exons in the LRRK2 gene by means of dHPLC analysis. Exons 31, 35, 41 and 48 we examined. Results: From a total of 126 samples, one exonic and four intronic polymorphisms in the exon 48 and one intronic polymorphism in exon 35 of the LRRK2 gene were detected. No common pathogenic mutations were found. Conclusion: The study indicates that the most common mutations in the LRRK2 gene do not play an important role in the aetiology of Parkinson’s disease in central Europe. This has also been shown by previous studies. It must be emphasized that the overall sample size is relatively small, particularly for the familial PD cases.

Key words:
Parkinson´s disease – genetics – LRRK2 – mutation – polymorphism

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