TARDBP mutations in Parkinson's disease

Sruti Rayaprolu, Shinsuke Fujioka, Sharleen Traynor, Alexandra I. Soto-Ortolaza, Leonard Petrucelli, Dennis W. Dickson, Rosa Rademakers, Kevin B. Boylan, Neill R. Graff-Radford, Ryan J. Uitti, Zbigniew K. Wszolek, Owen A. Ross

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

Abstract

Mutations of the TARDBP gene encoding TDP-43 protein have been shown to cause amyotrophic lateral sclerosis and have been reported to present with clinical heterogeneity including parkinsonism. In addition, TDP-43 pathology has been observed across a spectrum of neurodegenerative disorders, including Alzheimer's and Parkinson's disease. Herein we report the presence of a TDP-43 mutation in a patient with a clinical diagnosis of Parkinson's disease. The TDP-43 p.N267S substitution has been previously implicated in both amyotrophic lateral sclerosis and behavioral variant frontotemporal dementia. Our findings widen the phenotypic presentation for the TDP-43 p.N267S substitution and support a possible role for rare TDP-43 mutations presenting with Parkinson's disease.

Original languageEnglish (US)
Pages (from-to)312-315
Number of pages4
JournalParkinsonism and Related Disorders
Volume19
Issue number3
DOIs
StatePublished - Mar 2013

Keywords

  • Amyotrophic lateral sclerosis
  • Parkinson's disease
  • TDP-43

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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