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

CLTC encodes clathrin heavy chain 1 (CHC1), a major subunit of the clathrin triskelion polymer, combining three heavy and three light chains,1 which is implied in vesicles trafficking and synaptic neurotransmitters homeostasis through the formation of clathrin-coated vesicles.2 CLTC is highly expressed in the developing brain and de novo mutations in this gene underlie a wide spectrum of infantile and childhood neurodevelopmental disorders, including facial dysmorphism, brain malformations, musculoskeletal defects, intellectual disability, and epileptic encephalopathy (MIM 617854).