Mutational analysis of TARDBP in Parkinson's disease
- Blitterswijk, M. van
- Es, M.A. van
- Verbaan, D.
- Hilten, J.J. van
- Scheffer, H.
- Warrenburg, B.P.C. van de
- Veldink, J.H.
- Berg, L.H. van den
DOIAbstract
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