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Figure 1

From: Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome

Figure 1

Sequence chromatograms of the c.11596C > G (p.Pro3866Ala) mutation in BSN and MRI findings. (A)Solid symbols indicate affected members; open symbols indicate unaffected individuals. (B) Chromatograms of a coding exon of the BSN gene. The c.11596C > G (p.Pro3866Ala) mutation is indicated by the arrowhead, and the corresponding normal sequence is shown below. (C) Evolutionarily conserved domains of the BSN p.P3866A mutation. (D) Sagittal T2WI and T1WI of the brain of individual III-2 (Case 1). This MRI analysis showed severe atrophy of the bilateral hippocampus, mesencephalic tegmentum, cerebellum, and brainstem. (E) T2WI of the brain of individual III-1 (Case 2). This MRI analysis showed severe atrophy of the bilateral hippocampus, mesencephalic tegmentum, cerebellum, and brainstem. (F) T2WI of the brain of individual II-3 (Case 3). This MRI analysis showed mild atrophy of the bilateral hippocampus, mesencephalic tegmentum, cerebellum, and brainstem compared with Cases 1 and 2.

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