Figure 1 Pedigree of SCA2 family.

Figure 2 Head MRI of the proband showed atrophy of cerebellar and brainstem, and mild atrophy of cerebral cortex (arrows indicate).   Axial T₂WI of cerebellar level (Panel 2a). Axial T₂WI of basal ganglia level (Panel 2b). Sagittal T1WI (Panel 2c).

Figure 3 ATXN2 gene test findings   The repeats of CAG in the abnormal allele in the ATXN2 gene of proband were 42 (red arrow indicates) and the repeats of CAG in the normal allele were 18 (black arrow indicates), indicating SCA2 (Panel 3a). The repeats of CAG in 2 alleles in the ATXN2 gene of proband′s sister were 18 (red arrow indicates) and 14 (black arrow indicates), respectively (Panel 3b). The repeats of CAG in 2 alleles in the ATXN2 gene of proband′s brother were 18 (black arrow indicates, Panel 3c).