case_images: PMC6737916_01
case_images: Brain MRI. (A) Axial FLAIR image of the patient showing hyper-signal changes bilaterally in caudate bodies and lentiform nuclei. (B) Coronal T2 image showing cerebellar atrophy.
case_images: fneur-10-00944-g0001.jpg
case_images: PMC6737916_01_fneur-10-00944-g0001.jpg
case_images: F1
case_images: In addition, cerebellar atrophy was detected (Figure 1).
case_images: Schematic representation of TTC19 gene (GenBank accession no. NM_017775.3). The blue boxes indicate exons. Novel (shown in red) and previously reported mutations are shown.
case_images: fneur-10-00944-g0002.jpg
case_images: PMC6737916_01_fneur-10-00944-g0002.jpg
case_images: F2
case_images: TTC19 gene (NM_017775.3: c.581delG: p.Arg194Asnfs*16). This novel mutation along with other previously reported pathogenic variants are represented in Figure 2.
case_images: Sequence chromatograms of (A,B) parents and (C) the patient. The arrow indicates the site of the causative mutation.
case_images: fneur-10-00944-g0003.jpg
case_images: PMC6737916_01_fneur-10-00944-g0003.jpg
case_images: F3
case_images: It was confirmed that both parents were heterozygous for the mutation, and that the proband was homozygous for this mutation (Figure 3).