Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients
✍ Scribed by 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
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 68 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
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. © 2005 Movement Disorder Society