Authors
Stefanie H Müller, Simon L Girard, Franziska Hopfner, Nancy D Merner, Cynthia V Bourassa, Delia Lorenz, Lorraine N Clark, Lukas Tittmann, Alexandra I Soto-Ortolaza, Stephan Klebe, Mark Hallett, Susanne A Schneider, Colin A Hodgkinson, Wolfgang Lieb, Zbigniew K Wszolek, Manuela Pendziwiat, Oswaldo Lorenzo-Betancor, Werner Poewe, Sara Ortega-Cubero, Klaus Seppi, Alex Rajput, Anna Hussl, Ali H Rajput, Daniela Berg, Patrick A Dion, Isabel Wurster, Joshua M Shulman, Karin Srulijes, Dietrich Haubenberger, Pau Pastor, Carles Vilariño-Güell, Ronald B Postuma, Geneviève Bernard, Karl-Heinz Ladwig, Nicolas Dupré, Joseph Jankovic, Konstantin Strauch, Michel Panisset, Juliane Winkelmann, Claudia M Testa, Eva Reischl, Kirsten E Zeuner, Owen A Ross, Thomas Arzberger, Sylvain Chouinard, Günther Deuschl, Elan D Louis, Gregor Kuhlenbäumer, Guy A Rouleau
Publication date
2016/12/1
Journal
Brain
Volume
139
Issue
12
Pages
3163-3169
Publisher
Oxford University Press
Description
We conducted a genome-wide association study of essential tremor, a common movement disorder characterized mainly by a postural and kinetic tremor of the upper extremities. Twin and family history studies show a high heritability for essential tremor. The molecular genetic determinants of essential tremor are unknown. We included 2807 patients and 6441 controls of European descent in our two-stage genome-wide association study. The 59 most significantly disease-associated markers of the discovery stage were genotyped in the replication stage. After Bonferroni correction two markers, one (rs10937625) located in the serine/threonine kinase STK32B and one (rs17590046) in the transcriptional coactivator PPARGC1A were associated with essential tremor. Three markers (rs12764057, rs10822974, rs7903491) in the cell-adhesion molecule CTNNA3 were significant in the combined analysis of both stages …
Scholar articles
SH Müller, SL Girard, F Hopfner, ND Merner… - Brain, 2016
SH Müller, SL Girard, F Hopfner, ND Merner… - 2018