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

School of Medicine

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

68 Scopus citations

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 (US)
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
State	Published - Sep 2005

Keywords

Alpha-synuclein
Mutational screening
Parkinson's disease
Silent mutation

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/mds.20504

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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

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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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.",

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AU - Schmitz-Hübsch, Tanja

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AU - Tan, Eng King

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

Abstract

Keywords

ASJC Scopus subject areas

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