case_images: PMC10079982_01
case_images: Brain MRI images in the proband. (A) Sagittal T2-weighted image displayed thinning of the corpus callosum, as indicated by the red arrow. (B) Axial T1-weighted image showed symmetrical periventricular white matter lesions, as indicated by the red arrow.
case_images: fnint-17-1117617-g0001.jpg
case_images: PMC10079982_01_fnint-17-1117617-g0001.jpg
case_images: F1
case_images: Magnetic resonance imaging (MRI) of the brain showed an extremely thin corpus callosum on sagittal views and symmetrical periventricular white matter lesions (Figures 1A, B).
case_images: Thoracic spinal MRI image in the proband. Thoracic spinal MRI revealed thinning of the thoracic spinal cord with volume loss but no abnormal signal in the cord on sagittal T1-weighted imaging, as indicated by the red arrow.
case_images: fnint-17-1117617-g0002.jpg
case_images: PMC10079982_01_fnint-17-1117617-g0002.jpg
case_images: F2
case_images: Thoracic MRI showed that the thoracic spinal cord was significantly thinner and reduced in volume (Figure 2).
case_images: Whole-genome sequencing identified compound heterozygous mutations in the SPG11 gene. (A) Mutation of c.5687-5691del, as indicated by the red arrow. (B) Mutation of c.751C>T, as indicated by the red arrow.
case_images: fnint-17-1117617-g0003.jpg
case_images: PMC10079982_01_fnint-17-1117617-g0003.jpg
case_images: F3
case_images: A frameshift mutation (c.5687_5691del) and a non-sense mutation (c.751C>T) were identified in the SPG11 gene of the patient (Figure 3).