Mutation Analysis of the PARKIN , PINK1 , DJ1, and SNCA genes in Turkish Early-Onset Parkinson’s Patients and Genotype-Phenotype Correlations

Highlights • Our study is the first to evaluate the frequency of SNCA mutations in a Turkey. • Pathogenic heterozygous PRKN mutations were identified in 3 of the 50 patients. • We did not detect any pathogenic DJ1 and PINK I mutations in our study cohort.

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Bibliographische Detailangaben
Veröffentlicht in:	Clinical neurology and neurosurgery 2016-09, Vol.148, p.147-153
Hauptverfasser:	Erer, Sevda, Egeli, Unal, Zarifoglu, Mehmet, Tezcan, Gulcin, Cecener, Gulsah, Tunca, Berrin, Ak, Secil, Demirdogen, Elif, Kenangil, Gulay, Kaleagası, Hakan, Dogu, Okan, Saka, Esen, Elibol, Bulent
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age Age of Onset alpha-Synuclein - genetics Deoxyribonucleic acid DJ1 DNA Family medical history Female Genes Genotype Genotype & phenotype Humans Male Middle Aged Mutation Neurology Neurosurgery PARK loci Parkinson Disease - genetics Parkinson Disease - physiopathology Parkinson's disease Parkinsonism Patients Phenotype PINK1 Population PRKN Protein Deglycase DJ-1 - genetics Protein Kinases - genetics SNCA Turkey Ubiquitin-Protein Ligases - genetics
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Beschreibung
Zusammenfassung:	Highlights • Our study is the first to evaluate the frequency of SNCA mutations in a Turkey. • Pathogenic heterozygous PRKN mutations were identified in 3 of the 50 patients. • We did not detect any pathogenic DJ1 and PINK I mutations in our study cohort.
ISSN:	0303-8467 1872-6968
DOI:	10.1016/j.clineuro.2016.07.005