TARDBP mutations in Parkinson's disease

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

Research output: Contribution to journalArticle

23 Citations (Scopus)

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

Fingerprint

Parkinson Disease
Amyotrophic Lateral Sclerosis
Mutation
Frontotemporal Dementia
Parkinsonian Disorders
Neurodegenerative Diseases
Alzheimer Disease
Pathology
Genes
Proteins

Keywords

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

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

Cite this

TARDBP mutations in Parkinson's disease. / Rayaprolu, Sruti; Fujioka, Shinsuke; Traynor, Sharleen; Soto-Ortolaza, Alexandra I.; Petrucelli, Leonard; Dickson, Dennis W; Rademakers, Rosa V; Boylan, Kevin B.; Graff Radford, Neill R; Uitti, Ryan J.; Wszolek, Zbigniew K; Ross, Owen A.

In: Parkinsonism and Related Disorders, Vol. 19, No. 3, 03.2013, p. 312-315.

Research output: Contribution to journalArticle

Rayaprolu, Sruti ; Fujioka, Shinsuke ; Traynor, Sharleen ; Soto-Ortolaza, Alexandra I. ; Petrucelli, Leonard ; Dickson, Dennis W ; Rademakers, Rosa V ; Boylan, Kevin B. ; Graff Radford, Neill R ; Uitti, Ryan J. ; Wszolek, Zbigniew K ; Ross, Owen A. / TARDBP mutations in Parkinson's disease. In: Parkinsonism and Related Disorders. 2013 ; Vol. 19, No. 3. pp. 312-315.
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