RT Journal Article SR Electronic T1 Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum JF Neurology Genetics JO Neurol Genet FD Lippincott Williams & Wilkins SP e661 DO 10.1212/NXG.0000000000000661 VO 8 IS 2 A1 Nicita, Francesco A1 Travaglini, Lorena A1 Bombelli, Francesco A1 Tosi, Michele A1 Pro, Stefano A1 Bertini, Enrico A1 D'Amico, Adele YR 2022 UL http://ng.neurology.org/content/8/2/e661.abstract AB Objectives To report a novel association between pathogenic variants in the SEPSECS gene and complex movement disorder with thin corpus callosum (TCC).Methods Clinical exome sequencing was performed in an adult patient with a genetically unsolved neurodegenerative disorder. The main clinical, neuroimaging, and genetic data were described.Results The c.865C > T (p.P289S) and c.1297T > C (p.Y433H) missense variants in SEPSECS (NM_016,955.3) were discovered.Discussion This case represents a novel form of early-onset pyramidal syndrome with optic nerve hypoplasia, which slowly evolved to extrapyramidal syndrome featuring dystonia-parkinsonism, associated with TCC, caused by SEPSECS pathogenic variants. This form enlarges the group of the so-called pyramidal-extrapyramidal syndromes, as well as complex hereditary spastic paraparesis with TCC.