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.

Saved in:
Bibliographic Details
Published in:Clinical neurology and neurosurgery 2016-09, Vol.148, p.147-153
Main Authors: 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: Article
Language:English
Subjects:
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
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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