case_images: PMC11063335_01
case_images: (A) Family diagram of the proband; (B) Another complex heterozygous variation of proband c.1454G>A with Sanger sequencing; (C) Cerebellar atrophy can be seen in the sagittal T1WI phase of the proband's head MRI; (D) The conservative analysis of this variant suggests that it is highly conservative.
case_images: fneur-15-1349861-g0001.jpg
case_images: PMC11063335_01_fneur-15-1349861-g0001.jpg
case_images: F1
case_images: MRI plain scan and contrast-enhancement of the head indicated brain atrophy, especially in the bilateral cerebellar hemispheres (Figure 1C). T (p.Asp331Tyr) (Figures 1A, B). The proband's father failed to perform pedigree verification due to unexpected death, which was consistent with the role of family co-segregation. The variant of c.991G > T has been previously reported as a pathogenic variation, however, the variant of c.1454G > A has not been reported. The Mutation Taster software predicted it as a pathogenic variation, and the probability was 0.9999; this variant was not found in ExAC and Thousand Human Genome Database, and the conservation analysis suggested that it was highly conserved (Figure 1D).