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01-08-2012 | Short Communication

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

Authors: Eva C. Schulte, Brit Mollenhauer, Alexander Zimprich, Benjamin Bereznai, Peter Lichtner, Dietrich Haubenberger, Walter Pirker, Thomas Brücke, Maria J. Molnar, Annette Peters, Christian Gieger, Claudia Trenkwalder, Juliane Winkelmann

Published in: Neurogenetics | Issue 3/2012

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.

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Title: Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson’s disease
Authors: Eva C. Schulte
Brit Mollenhauer
Alexander Zimprich
Benjamin Bereznai
Peter Lichtner
Dietrich Haubenberger
Walter Pirker
Thomas Brücke
Maria J. Molnar
Annette Peters
Christian Gieger
Claudia Trenkwalder
Juliane Winkelmann
Publication date: 01-08-2012
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 3/2012
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-012-0334-9

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Springer Medicine

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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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