PMC10031122_01
|
(A) Axial CT images showing the cerebellum. (B) Pedigrees of the family. (C) The result of gene sequencing of the PRKCG gene. The arrow indicates the c.1232 (exon11)G>C.
fgene-14-1129988-g001.jpg
PMC10031122_01_fgene-14-1129988-g001.jpg
F1
The postoperative magnetic resonance imaging (MRI) and computerized tomography (CT) scans (Figure 1A) suggested postoperative changes; however, cerebellar atrophy changes were not observed. The pedigree of the proband is shown in Figure 1B. The verification revealed the presence of a heterozygous mutation in PRKCG c.1232G>C (p.G411A) (Figures 1C, 3).
The timeline of the proband.
fgene-14-1129988-g002.jpg
PMC10031122_01_fgene-14-1129988-g002.jpg
F2
The timeline with relevant data is shown in Figure 2.
Variants associated with ataxia that are described in the protein kinase C gamma coded by PRKCG. The pathogenic or likely pathogenic variants identified in this study are highlighted in red.
fgene-14-1129988-g003.jpg
PMC10031122_01_fgene-14-1129988-g003.jpg
F3
The verification revealed the presence of a heterozygous mutation in PRKCG c.1232G>C (p.G411A) (Figures 1C, 3).