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Neurobiol Aging. 2015 Aug;36(8):2444.e1-4. doi: 10.1016/j.neurobiolaging.2015.04.017. Epub 2015 May 9.

EIF4G1 mutations do not cause Parkinson's disease.

Author information

1
Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
2
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
3
Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
4
Department of Clinical Genetics, VU University Medical Center (VUmc), Amsterdam, the Netherlands; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
5
Sorbonne Universités, UPMC (Paris 6), UMR S 1127, Inserm U 1127, CNRS UMR 7225, and ICM, Paris, France.
6
Department of Clinical Neurosciences, UCL Institute of Neurology, London, UK.
7
Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA. Electronic address: singleta@mail.nih.gov.

Abstract

EIF4G1 mutations were previously reported as a cause of Parkinson's disease (PD). As a result of this finding, considerable work has been performed to test this idea and to examine the functional role of eukaryotic translation initiation factor 4-gamma in the pathogenic process underlying PD. Here, we show that the originally described mutation is likely a rare benign variant. We tested this variant in a very large series of subjects and show that it is more frequent in controls than cases. We argue here that this infers that EIF4G1 mutations are not related to PD.

KEYWORDS:

EIF4G1; Genetics; Mutation; Parkinson's disease

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