Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients

Daniela Berg; Marc Niwar; Sylvia Maass; Alexander Zimprich; J. Carsten Möller; Ullrich Wuellner; Tanja Schmitz-Hübsch; Christine Klein; Eng King Tan; Ludger Schöls; Laura Marsh; Ted M. Dawson; Bernd Janetzky; Thomas Müller; Dirk Woitalla; Vladimir Kostic; Peter P. Pramstaller; Wolfgang H. Oertel; Peter Bauer; Rejko Krueger; Thomas Gasser; Olaf Riess

doi:10.1002/mds.20504

Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients

Daniela Berg, Marc Niwar, Sylvia Maass, Alexander Zimprich, J. Carsten Möller, Ullrich Wuellner, Tanja Schmitz-Hübsch, Christine Klein, Eng King Tan, Ludger Schöls, Laura Marsh, Ted M. Dawson, Bernd Janetzky, Thomas Müller, Dirk Woitalla, Vladimir Kostic, Peter P. Pramstaller, Wolfgang H. Oertel, Peter Bauer, Rejko KruegerThomas Gasser, Olaf Riess^*

^*Corresponding author for this work

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

7 Citations (Scopus)

Abstract

Data on the frequency of α-synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the α-synuclein gene are rare and suggest that other factors contribute to α-synuclein aggregation in the majority of PD patients.

Original language	English
Pages (from-to)	1191-1194
Number of pages	4
Journal	Movement Disorders
Volume	20
Issue number	9
DOIs	https://doi.org/10.1002/mds.20504
Publication status	Published - Sept 2005
Externally published	Yes

Keywords

Alpha-synuclein
Mutational screening
Parkinson's disease
Silent mutation

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Berg, D., Niwar, M., Maass, S., Zimprich, A., Möller, J. C., Wuellner, U., Schmitz-Hübsch, T., Klein, C., Tan, E. K., Schöls, L., Marsh, L., Dawson, T. M., Janetzky, B., Müller, T., Woitalla, D., Kostic, V., Pramstaller, P. P., Oertel, W. H., Bauer, P., ... Riess, O. (2005). Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients. Movement Disorders, 20(9), 1191-1194. https://doi.org/10.1002/mds.20504

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title = "Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients",

abstract = "Data on the frequency of α-synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the α-synuclein gene are rare and suggest that other factors contribute to α-synuclein aggregation in the majority of PD patients.",

keywords = "Alpha-synuclein, Mutational screening, Parkinson's disease, Silent mutation",

author = "Daniela Berg and Marc Niwar and Sylvia Maass and Alexander Zimprich and M{\"o}ller, {J. Carsten} and Ullrich Wuellner and Tanja Schmitz-H{\"u}bsch and Christine Klein and Tan, {Eng King} and Ludger Sch{\"o}ls and Laura Marsh and Dawson, {Ted M.} and Bernd Janetzky and Thomas M{\"u}ller and Dirk Woitalla and Vladimir Kostic and Pramstaller, {Peter P.} and Oertel, {Wolfgang H.} and Peter Bauer and Rejko Krueger and Thomas Gasser and Olaf Riess",

year = "2005",

month = sep,

doi = "10.1002/mds.20504",

language = "English",

volume = "20",

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Berg, D, Niwar, M, Maass, S, Zimprich, A, Möller, JC, Wuellner, U, Schmitz-Hübsch, T, Klein, C, Tan, EK, Schöls, L, Marsh, L, Dawson, TM, Janetzky, B, Müller, T, Woitalla, D, Kostic, V, Pramstaller, PP, Oertel, WH, Bauer, P, Krueger, R, Gasser, T & Riess, O 2005, 'Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients', Movement Disorders, vol. 20, no. 9, pp. 1191-1194. https://doi.org/10.1002/mds.20504

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T1 - Alpha-synuclein and Parkinson's disease

T2 - Implications from the screening of more than 1,900 patients

AU - Berg, Daniela

AU - Niwar, Marc

AU - Maass, Sylvia

AU - Zimprich, Alexander

AU - Möller, J. Carsten

AU - Wuellner, Ullrich

AU - Schmitz-Hübsch, Tanja

AU - Klein, Christine

AU - Tan, Eng King

AU - Schöls, Ludger

AU - Marsh, Laura

AU - Dawson, Ted M.

AU - Janetzky, Bernd

AU - Müller, Thomas

AU - Woitalla, Dirk

AU - Kostic, Vladimir

AU - Pramstaller, Peter P.

AU - Oertel, Wolfgang H.

AU - Bauer, Peter

AU - Krueger, Rejko

AU - Gasser, Thomas

AU - Riess, Olaf

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AB - Data on the frequency of α-synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the α-synuclein gene are rare and suggest that other factors contribute to α-synuclein aggregation in the majority of PD patients.

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KW - Silent mutation

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JO - Movement Disorders

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ER -

Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients

Abstract

Keywords

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