A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion.
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.
Dogu
Okan
O
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.
Johnson
Janel
J
Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Hernandez
Dena
D
Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Hanson
Melissa
M
Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Hardy
John
J
Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Apaydin
Hulya
H
Department of Neurology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Özekmekçi
Sibel
S
Department of Neurology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Sevim
Serhan
S
Movement Disorders Unit, Department of Neurology, Faculty of Medicine, Mersin University, Mersin, Turkey.
Gwinn-Hardy
Katrina
K
Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Singleton
Andrew
A
Laboratory of Neurogenetics, National Institute on Aging and National Institute on Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
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*
D017931:DNA Primers; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein