Abstract
Background: The aim of his study was to evaluate the frequency of two most frequent GBA gene mutations in heterozygote state in patients with early and later onset Parkinson's disease in Polish populations. Methods and findings: Patients with Parkinson's disease; 115 non-demented with early onset disease (<45 year-old) and 155 patients with onset over 45 year-old were recruited to the study. The p.Asn409Ser and p.Leu483Pro screening was performed with the PCR-RFLP and direct sequencing methods. In the group of 270 PD patients, 11 heterozygotes for mutations in the GBA gene were identified (carrier frequency 4.07%). Among patients with early onset disease carrier frequency was 4.34% compared to 3,87% in the group of later onset. Conclusion: The study yielded that carrier frequency of GBA mutation in polish population was comparable to other European populations p.Asn409Ser mutation dominates in patients with early onset PD disease
Highlights
Parkinson’s disease (PD) is one of the most common neurodegenerative diseases with an incidence of 100-200 cases per 100,000 population
In the group of 115 PD patients with early onset of the disease, we identified 5 heterozygotes for the examined mutations in the GBA gene, including 4 individuals with and p.Leu483Pro and one person with p.Asn409Ser
The findings of this study demonstrate that the type of mutation in the GBA gene is strongly related to the age of PD onset and that most probably these mutations promote alpha-synuclein accumulation
Summary
Parkinson’s disease (PD) is one of the most common neurodegenerative diseases with an incidence of 100-200 cases per 100,000 population. The reported incidence of GBA gene mutations in PD patients has varied according to geographical area, population studied, methods of DNA testing (sequencing versus evaluating only the most common mutations), and control groups [6,7,8,9]. The aim of his study was to evaluate the frequency of two most frequent GBA gene mutations in heterozygote state in patients with early and later onset Parkinson's disease in Polish populations. Among patients with early onset disease carrier frequency was 4.34% compared to 3,87% in the group of later onset. Conclusion: The study yielded that carrier frequency of GBA mutation in polish population was comparable to other European populations p.Asn409Ser mutation dominates in patients with early onset PD disease.
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