Investigation of LRRK2 G2019S Mutation in the Patients with Sporadic Parkinson's Disease in Turkey

dc.authoridKutlay, Ozden/0000-0001-5509-6650
dc.contributor.authorAslan, Huseyin
dc.contributor.authorOzkan, Serhat
dc.contributor.authorTepeli, Emre
dc.contributor.authorEmre, Ramazan
dc.contributor.authorKutlay, Ozden
dc.contributor.authorGurler, Abdullah Ihsan
dc.contributor.authorUludağ, Ahmet
dc.date.accessioned2025-01-27T21:21:31Z
dc.date.available2025-01-27T21:21:31Z
dc.date.issued2014
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractObjective: Recently understanding genetic forms and pathogenic mutations has been providing growing knowledges about 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.
dc.identifier.endpage4
dc.identifier.issn1309-3878
dc.identifier.issue1
dc.identifier.scopus2-s2.0-85043544251
dc.identifier.scopusqualityN/A
dc.identifier.startpage1
dc.identifier.urihttps://hdl.handle.net/20.500.12428/28979
dc.identifier.volume6
dc.identifier.wosWOS:000420977700001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherDuzce Univ
dc.relation.ispartofKonuralp Tip Dergisi
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectG2019S
dc.subjectLRRK2
dc.subjectParkinson's disease
dc.titleInvestigation of LRRK2 G2019S Mutation in the Patients with Sporadic Parkinson's Disease in Turkey
dc.typeArticle

Dosyalar