Search

Abstract We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B gene. Truncating DNA variants located in the last exon of SEMA6B have recently been identified as a cause of autosomal dominant progressive myoclonus epilepsy. In many cases, myoclonus in the context of progressive myoclonic epilepsy is refractory to medical treatment. In the present case, treatment with zonisamide caused clinical improvement, particularly of positive and negative truncal myoclonus, considerably improving patient’s gait and thus mobility.

Background. In the German movie “Vincent will Meer” a healthy actor portrays a man with Tourette’s syndrome. Objective. The aim of this study was to investigate whether the performance of tics is convincing and whether this judgment depends on whether he/she suffers from tics or not. Methods. While the movie was broadcasted in German cinemas, we put an online survey (including 28 questions on different aspects related to the observation, performance, and authenticity of tics) on the web pages of the German self-help group. 276/296 surveys submitted could be used for further analyses. Results. 95.7% of all participants felt that the performance of tics was convincing. However, people with tics (n=26) were less convinced compared to those who had never met a person with tics (n=110) (P=0.020). Conclusions. Our results further support the hypothesis that tics are not “abnormal” but “physiological” movements that are only misplaced both in time and context.