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

• Published in: Movement disorders 2005-09, Vol.20 (9), p.1191-1194
• Main Authors: Berg, Daniela, Niwar, Marc, Maass, Sylvia, Zimprich, Alexander, Möller, J. Carsten, Wuellner, Ullrich, Schmitz-Hübsch, Tanja, Klein, Christine, Tan, Eng-King, Schöls, Ludger, Marsh, Laura, Dawson, Ted M., Janetzky, Bernd, Müller, Thomas, Woitalla, Dirk, Kostic, Vladimir, Pramstaller, Peter P., Oertel, Wolfgang H., Bauer, Peter, Krueger, Rejko, Gasser, Thomas, Riess, Olaf
• Format: Article
• Language: English
• Subjects: Aged; alpha-synuclein; alpha-Synuclein - genetics; Biological and medical sciences; Chromatography, High Pressure Liquid; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; DNA Primers - genetics; Exons; Female; Genetic Testing; Humans; Male; Medical sciences; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis; mutational screening; Neurology; Parkinson Disease - genetics; Parkinson's disease; Point Mutation - genetics; silent mutation
• ISSN: 0885-3185; 1531-8257
• DOI: 10.1002/mds.20504

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