TARDBP mutations in Parkinson's disease

被引：44

作者：

Rayaprolu, Sruti ^{[1
]}

Fujioka, Shinsuke ^{[2
]}

Traynor, Sharleen ^{[2
]}

Soto-Ortolaza, Alexandra I. ^{[1
]}

Petrucelli, Leonard ^{[1
]}

Dickson, Dennis W. ^{[1
]}

Rademakers, Rosa ^{[1
]}

Boylan, Kevin B. ^{[2
]}

Graff-Radford, Neill R. ^{[2
]}

Uitti, Ryan J. ^{[2
]}

Wszolek, Zbigniew K. ^{[2
]}

Ross, Owen A. ^{[1
]}

机构：

[1] Mayo Clin Jacksonville, Dept Neurosci, Jacksonville, FL 32224 USA

[2] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA

来源：

PARKINSONISM & RELATED DISORDERS | 2013年 / 19卷 / 03期

关键词：

TDP-43; Amyotrophic lateral sclerosis; Parkinson's disease; AMYOTROPHIC-LATERAL-SCLEROSIS; FRONTOTEMPORAL LOBAR DEGENERATION; TDP-43; DEMENTIA; GENE; FUS;

D O I：

10.1016/j.parkreldis.2012.11.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2012 Elsevier Ltd. All rights reserved.

引用

页码：312 / 315

页数：4

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