Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum:
Francesco Nicita1, Lorena Travaglini1, Francesco Bombelli1
1Genetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
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.
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