Truncating VPS16 Mutations Are Rare in Early Onset Dystonia

VIDEO S1: The video shows the patient at the age of 30 years shortly before bilateral deep brain stimulation of the globus pallidus internus. Dystonia is characterized by repetitive and stereotypic movements of the left shoulder and arm, which occurred combined with intermittent anterocollis and laterocollis to the left and ballistic but also stereotypic movements of the trunk. Dystonic movements of the upper half improve while the patient is speaking or performing other tasks. When speaking, he shows severe dystonia in the oromandibular region and laryngeal involvement with adductor type spasmodic dysphonia. There is no bradykinesia and only little dystonic posturing of the hands. The legs are unaffected. The gait is normal apart from continuous dystonic activity of the upper half of the body. There is writer's cramp in the right hand. Appendix S1: Supporting Information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.