Fig. 1

Genetic analysis and MRI findings. a Fragment analysis of TBP. The numbers besides the peaks indicate the numbers of repeats. b Sanger sequencing of the repeat region of the TBP gene. The repeat sequences are marked in light red. The numbers indicate the numbers of repeats. c Sanger sequencing of the variant. Red arrow indicates the variant. d-f Brain MRI images of patient 2 at the age of 82 years. d Severe atrophy of the cerebellum is evident on the T1-weighted sagittal image. e, f Diffuse cerebral atrophy and lateral ventricular enlargement accompanied by bilateral hyperintense lesions on the T2-weighted image in the basal ganglia, thalamus, and deep white matter. R, the right side of the brain