Mutational analysis of TARDBP in Parkinson's disease

Marka van Blitterswijk; Michael A. van Es; Dagmar Verbaan; Jacobus J. van Hilten; Hans Scheffer; Bart P. van de Warrenburg; Jan H. Veldink; Leonard H. Van den Berg

doi:10.1016/j.neurobiolaging.2012.09.013

Mutational analysis of TARDBP in Parkinson's disease

Marka van Blitterswijk, Michael A. van Es, Dagmar Verbaan, Jacobus J. van Hilten, Hans Scheffer, Bart P. van de Warrenburg, Jan H. Veldink, Leonard H. Van den Berg

Neuroscience

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

Mutations in TAR DNA-binding protein (TARDBP) are associated with heterogenic phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and Parkinson's disease. In this study, we investigated the presence of TARDBP mutations in a cohort of 429 Dutch patients with Parkinson's disease. Though we detected 1 silent mutation, p.S332S, no missense mutations were present in our cohort. Our findings, therefore, demonstrate that TARDBP mutations do not appear to contribute to the pathogenesis of Parkinson's disease in The Netherlands.

Original language	English (US)
Pages (from-to)	1517.e1-1517.e3
Journal	Neurobiology of aging
Volume	34
Issue number	5
DOIs	https://doi.org/10.1016/j.neurobiolaging.2012.09.013
State	Published - May 2013

Keywords

Amyotrophic lateral sclerosis
Genetics
Mutation
Parkinson's disease
TARDBP

ASJC Scopus subject areas

Clinical Neurology
Geriatrics and Gerontology
Aging
General Neuroscience
Developmental Biology

Access to Document

10.1016/j.neurobiolaging.2012.09.013

Cite this

@article{0f33954732584fe88fa31c9c57ea40c4,

title = "Mutational analysis of TARDBP in Parkinson's disease",

abstract = "Mutations in TAR DNA-binding protein (TARDBP) are associated with heterogenic phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and Parkinson's disease. In this study, we investigated the presence of TARDBP mutations in a cohort of 429 Dutch patients with Parkinson's disease. Though we detected 1 silent mutation, p.S332S, no missense mutations were present in our cohort. Our findings, therefore, demonstrate that TARDBP mutations do not appear to contribute to the pathogenesis of Parkinson's disease in The Netherlands.",

keywords = "Amyotrophic lateral sclerosis, Genetics, Mutation, Parkinson's disease, TARDBP",

author = "{van Blitterswijk}, Marka and {van Es}, {Michael A.} and Dagmar Verbaan and {van Hilten}, {Jacobus J.} and Hans Scheffer and {van de Warrenburg}, {Bart P.} and Veldink, {Jan H.} and {Van den Berg}, {Leonard H.}",

note = "Funding Information: This work was supported by the VSB fonds , Thierry Latran Foundation , Prinses Beatrix Fonds , Catharijne Stichting , H. Kersten and M. Kersten, J. R. van Dijk, Adessium Foundation , and the Rudolf Magnus Young Talent Fellowship ; the research leading to these results has received funding from the European Community's Health Seventh Framework Program (FP7/2007-2013) under grant agreement n° 259867.",

year = "2013",

month = may,

doi = "10.1016/j.neurobiolaging.2012.09.013",

language = "English (US)",

volume = "34",

pages = "1517.e1--1517.e3",

journal = "Neurobiology of aging",

issn = "0197-4580",

publisher = "Elsevier Inc.",

number = "5",

}

TY - JOUR

T1 - Mutational analysis of TARDBP in Parkinson's disease

AU - van Blitterswijk, Marka

AU - van Es, Michael A.

AU - Verbaan, Dagmar

AU - van Hilten, Jacobus J.

AU - Scheffer, Hans

AU - van de Warrenburg, Bart P.

AU - Veldink, Jan H.

AU - Van den Berg, Leonard H.

N1 - Funding Information: This work was supported by the VSB fonds , Thierry Latran Foundation , Prinses Beatrix Fonds , Catharijne Stichting , H. Kersten and M. Kersten, J. R. van Dijk, Adessium Foundation , and the Rudolf Magnus Young Talent Fellowship ; the research leading to these results has received funding from the European Community's Health Seventh Framework Program (FP7/2007-2013) under grant agreement n° 259867.

PY - 2013/5

Y1 - 2013/5

N2 - Mutations in TAR DNA-binding protein (TARDBP) are associated with heterogenic phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and Parkinson's disease. In this study, we investigated the presence of TARDBP mutations in a cohort of 429 Dutch patients with Parkinson's disease. Though we detected 1 silent mutation, p.S332S, no missense mutations were present in our cohort. Our findings, therefore, demonstrate that TARDBP mutations do not appear to contribute to the pathogenesis of Parkinson's disease in The Netherlands.

AB - Mutations in TAR DNA-binding protein (TARDBP) are associated with heterogenic phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and Parkinson's disease. In this study, we investigated the presence of TARDBP mutations in a cohort of 429 Dutch patients with Parkinson's disease. Though we detected 1 silent mutation, p.S332S, no missense mutations were present in our cohort. Our findings, therefore, demonstrate that TARDBP mutations do not appear to contribute to the pathogenesis of Parkinson's disease in The Netherlands.

KW - Amyotrophic lateral sclerosis

KW - Genetics

KW - Mutation

KW - Parkinson's disease

KW - TARDBP

UR - http://www.scopus.com/inward/record.url?scp=84873479124&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84873479124&partnerID=8YFLogxK

U2 - 10.1016/j.neurobiolaging.2012.09.013

DO - 10.1016/j.neurobiolaging.2012.09.013

M3 - Article

C2 - 23062702

AN - SCOPUS:84873479124

SN - 0197-4580

VL - 34

SP - 1517.e1-1517.e3

JO - Neurobiology of aging

JF - Neurobiology of aging

IS - 5

ER -

Mutational analysis of TARDBP in Parkinson's disease

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this