Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient.

Supplementary Table 1. Movement disorders in subjects harboring a CLTC pathogenic variant. Video 1. Segment 1 – Pre-treatment. The girl shows bradykinesia, postural instability, lack of postural reactions, and dystonic postures in the attempt to stand. With walking, possible with truncal support, dystonic gait and upper limbs dystonic posturing become evident. Segment 2 – Post-treatment. After 2 months of treatment (selegiline titrated up to 5 mg/day) the child could stand autonomously, and bradykinesia and postural control improved allowing functional voluntary movements of the upper limbs. Walking was possible with frontal hand support with improved speed and reduced lower limb dystonia. Hypomimia is still evident (no blinking can be seen) and gaze pursuit is now possible with less evident nodding head movements. Saccadic latency is still present but with a shorter delay. Post-treatment follow-up: On follow-up, there is a reduction of limb dysmetria and less trunk oscillation while in a standing position. 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.