Dataset Information
Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.
Ontology highlight
ABSTRACT: 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.
SUBMITTER: Nicita F
PROVIDER: S-EPMC8893591 | biostudies-literature | 2022 Apr
REPOSITORIES: biostudies-literature
Publications
Novel <i>SEPSECS</i> Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.
Neurology. Genetics 20210303 2
<h4>Objectives</h4>To report a novel association between pathogenic variants in the <i>SEPSECS</i> gene and complex movement disorder with thin corpus callosum (TCC).<h4>Methods</h4>Clinical exome sequencing was performed in an adult patient with a genetically unsolved neurodegenerative disorder. The main clinical, neuroimaging, and genetic data were described.<h4>Results</h4>The c.865C > T (p.P289S) and c.1297T > C (p.Y433H) missense variants in <i>SEPSECS</i> (NM_016,955.3) were discovered.<h4 ...[more]
