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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.

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum