Mutational analysis of TARDBP in Parkinson's disease |
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| Authors: | Marka van Blitterswijk Michael A. van Es Dagmar Verbaan Jacobus J. van Hilten Hans Scheffer Bart P. van de Warrenburg Jan H. Veldink Leonard H. van den Berg |
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| Affiliation: | 1. Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands;2. Department of Neurosurgery, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands;3. Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands;4. Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands;5. Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands |
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| Abstract: | Mutations in TAR DNA-binding protein (TARDBP) are associated with heterogenic phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and Parkinson's disease. In this study, we investigated the presence of TARDBP mutations in a cohort of 429 Dutch patients with Parkinson's disease. Though we detected 1 silent mutation, p.S332S, no missense mutations were present in our cohort. Our findings, therefore, demonstrate that TARDBP mutations do not appear to contribute to the pathogenesis of Parkinson's disease in The Netherlands. |
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