Fig. 1

The clinical materials of the case. a-b Axial sections, T1-weighted sequences of MRI 4 years after disease onset (at 56 years of age) revealed cerebral atrophy, particularly in the posterior cortex. c-d One and a half years later, the secondary MRI revealed much more extensive atrophy within the frontal and occipital-parietal lobes, and bilateral partial parietal lobe. e-f 18F-FDG-PET showed diffuse bilateral hypometabolism in the frontal, parietal, temporal, and occipital lobes, particularly in the parieto-occipital regions. g Bilateral fundus examinations were normal. h Genetic testing showed a single nucleotide polymorphism rs5848 (c.*78C > T), located in the 3′-UTR of GRN