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 journalArticlepeer-review

3 Scopus citations


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)
Pages (from-to)1517.e1-1517.e3
JournalNeurobiology of aging
Issue number5
StatePublished - May 2013


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

ASJC Scopus subject areas

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


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