Objectives: To report a novel association between pathogenic variants in the 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 (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 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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893591 | PMC |
| http://dx.doi.org/10.1212/NXG.0000000000000661 | DOI Listing |
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