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EIF4G1 mutations do not cause Parkinson's disease.


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.

SUBMITTER: Nichols N 

PROVIDER: S-EPMC4464946 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature

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EIF4G1 mutations do not cause Parkinson's disease.

Nichols Noah N   Bras Jose M JM   Hernandez Dena G DG   Jansen Iris E IE   Lesage Suzanne S   Lubbe Steven S   Singleton Andrew B AB  

Neurobiology of aging 20150509 8


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 a  ...[more]

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