title: A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion.
abstract: The importance of parkin in early-onset Parkinson's disease in Japan, Europe, and the United States is well established. The contribution of this gene to the risk of Parkinson's disease in other populations is less well known. To explore the importance of parkin in those of Turkish ancestry, we studied familial cases from that country, and identified a consanguineous family with early-onset Parkinson's disease due to a homozygous mutation in parkin.
authors.affiliation: Movement Disorders Unit, Department of Neurology, Faculty of Medicine, Mersin University, Mersin, Turkey.|Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Okan
authors.initials: O
authors.lastname: Dogu
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Janel
authors.initials: J
authors.lastname: Johnson
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Dena
authors.initials: D
authors.lastname: Hernandez
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Melissa
authors.initials: M
authors.lastname: Hanson
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.affiliation: Department of Neurology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
authors.forename: Hulya
authors.initials: H
authors.lastname: Apaydin
authors.affiliation: Department of Neurology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
authors.forename: Sibel
authors.initials: S
authors.lastname: Özekmekçi
authors.affiliation: Movement Disorders Unit, Department of Neurology, Faculty of Medicine, Mersin University, Mersin, Turkey.
authors.forename: Serhan
authors.initials: S
authors.lastname: Sevim
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Katrina
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
mesh_terms: D003241:Consanguinity; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014421:Turkey; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D017931:DNA Primers; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein