Screening of mutations in GNAL in sporadic dystonia patients

Background GNAL mutations have been shown to cause adult‐onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures. Methods To test the frequency of GNAL mutations in a series of 137 German patients with sporadic dystonia patients we used next‐generation sequencing of amplicon‐derived barcoded NexteraXT libraries for the coding exons and adjacent intronic sequences of GNAL . Results In our cohort we identified 1 pathogenic nonsense mutation (c.733C>T, p.R245*) in a patient with cervical dystonia. In a second patient a synonymous coding nonsynonymous variant (c.G252A, p.E84E) was detected, which is predicted to alter a splice site. Conclusions Our findings further support GNAL as causative gene in adult‐onset isolated dystonia. © 2014 International Parkinson and Movement Disorder Society