PT - JOURNAL ARTICLE AU - Nicita, Francesco AU - Travaglini, Lorena AU - Bombelli, Francesco AU - Tosi, Michele AU - Pro, Stefano AU - Bertini, Enrico AU - D'Amico, Adele TI - Novel <em>SEPSECS</em> Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum AID - 10.1212/NXG.0000000000000661 DP - 2022 Apr 01 TA - Neurology Genetics PG - e661 VI - 8 IP - 2 4099 - http://ng.neurology.org/content/8/2/e661.short 4100 - http://ng.neurology.org/content/8/2/e661.full SO - Neurol Genet2022 Apr 01; 8 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 &gt; T (p.P289S) and c.1297T &gt; 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.