A Recurrent <scp><i>VPS16</i></scp> p.Arg187* Nonsense Variant in Early‐Onset Generalized Dystonia
Miriam Ostrožovičová, Robert Jech, Dora Steel, Petra Pavelekova, Vladimír Haň, Zuzana Gdovinová, Peter Lichtner, Manju A. Kurian, Sarah Wiethoff, Henry Houlden, Petra Havránková, Juliane Winkelmann, Michael Zech, Matěj Škorvánek
Abstract
Table S1 Clinical characteristics of the study subjects. Video S1 - Patient 1 – 1st segment shows spasmodic dysphonia, 2nd segment shows generalized dystonia with predominantly craniocervical, laryngeal, trunk and upper limbs involvement, 3rd segment shows generalized dystonia on walking and abnormal pull test. Video S2 - Patient 2 - 1st segment shows patient prior to GPi DBS with generalized mostly fixed, but also mobile severe dystonia dominated by cervical and trunk involvement, causing abnormal posture, presented together with mobile component on the neck. 2nd segment shows patient 3 weeks post GPi DBS with partial improvement and 3rd segment shows patient 3 years post GPi DBS with significant improvement. Video S3 - Patient 3 – video shows mobile cervical dystonia with a prominent jerky component, severe spasmodic dysphonia, and dystonia of upper limbs with a prominent mobile component on the right side. Lower limbs, gait and postural instability remains unaffected. 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.