NDLI: Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson’s disease

Content Provider	Springer Nature Link
Author	Schulte, Eva C. Mollenhauer, Brit Zimprich, Alexander Bereznai, Benjamin Lichtner, Peter Haubenberger, Dietrich Pirker, Walter Brücke, Thomas Molnar, Maria J. Peters, Annette Gieger, Christian Trenkwalder, Claudia Winkelmann, Juliane
Copyright Year	2012
Abstract	Recently, mutations in eukaryotic translation initiation factor 4G1 (EIF4G1) were reported as a rare cause of familial Parkinson’s disease (PD). We screened the 33 exons of EIF4G1 by high-resolution melting curve analysis for variants in our Central European cohort of 376 PD cases. Variant frequency was assessed in a total of 975 PD cases and 1,014 general population controls. Eight novel nonsynonymous and four synonymous variants were identified. In our cohort, novel and previously identified nonsynonymous variants were very rare. Although it is possible that our general population controls also comprise individuals who have or could develop PD in the future, the presence of the original mutation (EIF4G1 p.Arg1205 His) in three controls only, raises questions about the causality of this variant with regard to PD.
Starting Page	281
Ending Page	285
Page Count	5
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	13
Issue Number	3
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2012-06-16
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Genetics Rare variants Parkinson’s disease EIF4G1 Neurosciences Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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