case_images: PMC11257840_01
case_images: Timeline of the case report.
case_images: fneur-15-1382534-g001.jpg
case_images: PMC11257840_01_fneur-15-1382534-g001.jpg
case_images: fig1
case_images: The proband (patient I-2) was a 56-year-old Chinese woman with slowly deteriorating extremity tremors, rigidity, and bradykinesia for 4 years, and involuntary head, neck, perioral, and trunk movements for 3 years (see the timeline in Figure 1).
case_images: Cranial neuroimaging and Genetic analysis of SLC20A2 in the family. Axial cranial CT scan shows symmetric hyperdensity lesions in the bilateral basal ganglia, cerebellar dentate nuclei, thalamus, periventricular region, and subcortical white matter of the parietal lobe, with widened sulci and mild brain atrophy of the proband (A-C). Axial cranial CT scan shows symmetric hyperdensity lesions in the bilateral basal ganglia of the proband's son (D). WES identified a novel variant site in the SLC20A2 gene, c.613G>C (p.Val205Leu). Genetic analysis revealed that the variant in the proband's son (II-1) was inherited from his mother (I-2) (E).
case_images: fneur-15-1382534-g002.jpg
case_images: PMC11257840_01_fneur-15-1382534-g002.jpg
case_images: fig2
case_images: Brain computed tomography (CT) revealed multiple symmetrical calcifications (Figures 2A-C). SLC20A2. Sanger sequencing confirmed that the proband's son (patient II-1) had the same variant (Figure 2E), exhibiting symmetrical calcifications on brain CT (Figure 2D) despite lacking symptoms.