Premium
Alpha‐synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients
Author(s) -
Berg Daniela,
Niwar Marc,
Maass Sylvia,
Zimprich Alexander,
Möller J. Carsten,
Wuellner Ullrich,
SchmitzHübsch Tanja,
Klein Christine,
Tan EngKing,
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
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20504
Subject(s) - alpha synuclein , parkinson's disease , mutation , degenerative disease , synuclein , disease , denaturing high performance liquid chromatography , alpha (finance) , genetics , gene , medicine , biology , surgery , construct validity , patient satisfaction
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