Görüntüleme
20
İndirme
1
Objective: Recently understanding genetic forms and pathogenic mutations etiopathogenesis of Parkinson’s disease. Leucine-rich repeat kinase 2 gene (LRRK2) G2019S mutation is the most commonly reported mutation amongst autosomal dominant and sporadic Parkinson’s disease patients. Aims of our study are to identify the frequency of the LRRK2 G2019S mutation in sporadic late onset Parkinson’s disease patients from the Eskisehir, diagnostic utility of this mutation and to confer genetic counselling to the mutation carier patients. Methods: We investigated 83 patients with sporadic Parkinson’s disease and 50 normal (healty) controls unrelated to patients. LRRK2 exon 41 was investigated with direct sequencing method. Results: Any point mutation or polymorphism was not detected in the LRRK2 exon 41 amongst patients and control subjects. Conclusion: Our findings suggest that the frequency of LRRK2 G2019S mutation is very lower in Turkish patients with Parkinson’s disease
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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