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

doi:10.1016/j.parkreldis.2012.11.003

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 journal › Article › peer-review

28 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 language	English (US)
Pages (from-to)	312-315
Number of pages	4
Journal	Parkinsonism and Related Disorders
Volume	19
Issue number	3
DOIs	https://doi.org/10.1016/j.parkreldis.2012.11.003
State	Published - 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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10.1016/j.parkreldis.2012.11.003

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title = "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.",

keywords = "Amyotrophic lateral sclerosis, Parkinson's disease, TDP-43",

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

note = "Funding Information: We would like to thank all those who have contributed to our research, particularly the patients and families who donated DNA samples for this work. This work is supported by a Morris K. Udall Parkinson's Disease Research Center of Excellence ( NINDS P50NS072187 ), NINDS R01NS078086 and the Mayo Clinic Clinical Research Program ( MCF #90052030 ). RR is supported by NIH grants R01AG026251 and the ALS Therapy Alliance. LP is supported by NINDS [ R01NS063964 , R01NS077402 ], Amyotrophic Lateral Sclerosis Association , and Department of Defense [ W81XWH-10-1-0512-1 and W81XWH-09-1-0315AL093108 ].",

year = "2013",

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doi = "10.1016/j.parkreldis.2012.11.003",

language = "English (US)",

volume = "19",

pages = "312--315",

journal = "Parkinsonism and Related Disorders",

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AU - Rayaprolu, Sruti

AU - Fujioka, Shinsuke

AU - Traynor, Sharleen

AU - Soto-Ortolaza, Alexandra I.

AU - Petrucelli, Leonard

AU - Dickson, Dennis W.

AU - Rademakers, Rosa

AU - Boylan, Kevin B.

AU - Graff-Radford, Neill R.

AU - Uitti, Ryan J.

AU - Wszolek, Zbigniew K.

AU - Ross, Owen A.

N1 - Funding Information: We would like to thank all those who have contributed to our research, particularly the patients and families who donated DNA samples for this work. This work is supported by a Morris K. Udall Parkinson's Disease Research Center of Excellence ( NINDS P50NS072187 ), NINDS R01NS078086 and the Mayo Clinic Clinical Research Program ( MCF #90052030 ). RR is supported by NIH grants R01AG026251 and the ALS Therapy Alliance. LP is supported by NINDS [ R01NS063964 , R01NS077402 ], Amyotrophic Lateral Sclerosis Association , and Department of Defense [ W81XWH-10-1-0512-1 and W81XWH-09-1-0315AL093108 ].

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N2 - 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.

AB - 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.

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TARDBP mutations in Parkinson's disease

Abstract

Keywords

ASJC Scopus subject areas

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