Mutational analysis of TARDBP in Parkinson's disease

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

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish (US)
JournalNeurobiology of Aging
Volume34
Issue number5
DOIs
StatePublished - May 2013
Externally publishedYes

Fingerprint

DNA-Binding Proteins
Parkinson Disease
Mutation
Missense Mutation
Netherlands
Phenotype

Keywords

  • Amyotrophic lateral sclerosis
  • Genetics
  • Mutation
  • Parkinson's disease
  • TARDBP

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Aging
  • Developmental Biology
  • Geriatrics and Gerontology

Cite this

Van Blitterswijk, M., van Es, M. A., Verbaan, D., van Hilten, J. J., Scheffer, H., van de Warrenburg, B. P., ... Van den Berg, L. H. (2013). Mutational analysis of TARDBP in Parkinson's disease. Neurobiology of Aging, 34(5). https://doi.org/10.1016/j.neurobiolaging.2012.09.013

Mutational analysis of TARDBP in Parkinson's disease. / Van Blitterswijk, Marka; van Es, Michael A.; Verbaan, Dagmar; van Hilten, Jacobus J.; Scheffer, Hans; van de Warrenburg, Bart P.; Veldink, Jan H.; Van den Berg, Leonard H.

In: Neurobiology of Aging, Vol. 34, No. 5, 05.2013.

Research output: Contribution to journalArticle

Van Blitterswijk, M, van Es, MA, Verbaan, D, van Hilten, JJ, Scheffer, H, van de Warrenburg, BP, Veldink, JH & Van den Berg, LH 2013, 'Mutational analysis of TARDBP in Parkinson's disease', Neurobiology of Aging, vol. 34, no. 5. https://doi.org/10.1016/j.neurobiolaging.2012.09.013
Van Blitterswijk M, van Es MA, Verbaan D, van Hilten JJ, Scheffer H, van de Warrenburg BP et al. Mutational analysis of TARDBP in Parkinson's disease. Neurobiology of Aging. 2013 May;34(5). https://doi.org/10.1016/j.neurobiolaging.2012.09.013
Van Blitterswijk, Marka ; van Es, Michael A. ; Verbaan, Dagmar ; van Hilten, Jacobus J. ; Scheffer, Hans ; van de Warrenburg, Bart P. ; Veldink, Jan H. ; Van den Berg, Leonard H. / Mutational analysis of TARDBP in Parkinson's disease. In: Neurobiology of Aging. 2013 ; Vol. 34, No. 5.
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