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

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)1191-1194
Number of pages4
JournalMovement Disorders
Volume20
Issue number9
DOIs
StatePublished - Sep 2005

Keywords

  • Alpha-synuclein
  • Mutational screening
  • Parkinson's disease
  • Silent mutation

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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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