TARDBP mutations in Parkinson's disease.

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.

• Authors: 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
• Journal: Parkinsonism & related disorders (Parkinsonism Relat Disord) Vol. 19 Issue 3 Pg. 312-5 (Mar 2013) ISSN: 1873-5126 [Electronic] England
• PMID: 23231971 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S.)
• Copyright: Copyright © 2012 Elsevier Ltd. All rights reserved.

Chemical References

• DNA-Binding Proteins

Topics

• Adult
• Aged
• Aged, 80 and over
• DNA Mutational Analysis
• DNA-Binding Proteins (genetics)
• Female
• Humans
• Male
• Middle Aged
• Mutation
• Parkinson Disease (genetics)
• Pedigree