PMC6737916_01
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.
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F1
In addition, cerebellar atrophy was detected (Figure 1).
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.
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F2
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.
Sequence chromatograms of (A,B) parents and (C) the patient. The arrow indicates the site of the causative mutation.
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F3
It was confirmed that both parents were heterozygous for the mutation, and that the proband was homozygous for this mutation (Figure 3).