Figure 8.
PAX5 deficiency causes aberrant foliation of the cerebellum. (A) Left: Sagittal and coronal MRI brain scans of the patient and a representative control. The left (blue) and right (red) hemispheres and the vermis (yellow) of the cerebellum are indicated. Right: Volumetric quantification of the lobules X (left hemisphere) and VIIIa (vermis) of the patient and five controls. (B) Left: Sagittal and coronal MRI brain scans of adult Pax5+/+ and Pax5R31Q/− mice. Right: Quantification of lobules IV/V and VII. (C) Immunofluorescent staining of sagittal brain sections from adult mice of the indicated genotypes. Left: The entire section of the cerebellum is shown after combined the staining with antibodies detecting calbindin (Calb, green), parvalbumin (Parv, red), and GABAA-R6α (white) together with DAPI (blue). The different lobules of the vermis are indicated by roman numbers. The altered foliation pattern in the vermis of Pax5+/− and Pax5R31Q/− brains is shown by yellow arrowheads. The scale bar denotes 1 mm. Center: Magnification of the inset regions shown in the overview sections (to the left) displays the individual staining of calbindin (arrow pointing to an individual Purkinje cell), parvalbumin (arrow pointing to an individual molecular layer interneuron), and GABAA-R6α (white) in combination with DAPI (blue). All stainings are merged in the image shown to the right. The scale bar denotes 50 μm. Right: Bar graphs show the density (cell numbers across monolayer or across area, respectively) of Purkinje cells (PC; calbindin expression), molecular layer interneurons (MLI; parvalbumin expression), and granule cells (GC; GABAA-R6α expression) in lobule IV/V (data obtained from midline sections of three mice per genotype for the GC and MLI quantification and five mice per genotype for the PC quantification). (D) Coronal cerebellar sections of adult mice of the indicated genotypes stained with an aldolase C–specific antibody (green) combined with DAPI (blue). One of three experiments is shown (n = 3 per genotype). Scale bars denote 1 mm (C, overview); 50 μm (C, magnification); and 1 mm (D). The data (A–C) are shown as mean values with SEM (n = 5 for controls in A, n ≥ 5 per genotype in B and n ≥ 3 per genotype in C). Two-tailed one-sample t test (A), unpaired t test with false discovery rate correction (B), ANOVA with Dunnett’s multiple comparisons test (C); *, P < 0.05. For detailed statistical information (A–C), see Table S6. Each dot represents one individual (A) or a single mouse (B and C).

PAX5 deficiency causes aberrant foliation of the cerebellum. (A) Left: Sagittal and coronal MRI brain scans of the patient and a representative control. The left (blue) and right (red) hemispheres and the vermis (yellow) of the cerebellum are indicated. Right: Volumetric quantification of the lobules X (left hemisphere) and VIIIa (vermis) of the patient and five controls. (B) Left: Sagittal and coronal MRI brain scans of adult Pax5+/+ and Pax5R31Q/− mice. Right: Quantification of lobules IV/V and VII. (C) Immunofluorescent staining of sagittal brain sections from adult mice of the indicated genotypes. Left: The entire section of the cerebellum is shown after combined the staining with antibodies detecting calbindin (Calb, green), parvalbumin (Parv, red), and GABAA-R6α (white) together with DAPI (blue). The different lobules of the vermis are indicated by roman numbers. The altered foliation pattern in the vermis of Pax5+/− and Pax5R31Q/− brains is shown by yellow arrowheads. The scale bar denotes 1 mm. Center: Magnification of the inset regions shown in the overview sections (to the left) displays the individual staining of calbindin (arrow pointing to an individual Purkinje cell), parvalbumin (arrow pointing to an individual molecular layer interneuron), and GABAA-R6α (white) in combination with DAPI (blue). All stainings are merged in the image shown to the right. The scale bar denotes 50 μm. Right: Bar graphs show the density (cell numbers across monolayer or across area, respectively) of Purkinje cells (PC; calbindin expression), molecular layer interneurons (MLI; parvalbumin expression), and granule cells (GC; GABAA-R6α expression) in lobule IV/V (data obtained from midline sections of three mice per genotype for the GC and MLI quantification and five mice per genotype for the PC quantification). (D) Coronal cerebellar sections of adult mice of the indicated genotypes stained with an aldolase C–specific antibody (green) combined with DAPI (blue). One of three experiments is shown (n = 3 per genotype). Scale bars denote 1 mm (C, overview); 50 μm (C, magnification); and 1 mm (D). The data (A–C) are shown as mean values with SEM (n = 5 for controls in A, n ≥ 5 per genotype in B and n ≥ 3 per genotype in C). Two-tailed one-sample t test (A), unpaired t test with false discovery rate correction (B), ANOVA with Dunnett’s multiple comparisons test (C); *, P < 0.05. For detailed statistical information (A–C), see Table S6. Each dot represents one individual (A) or a single mouse (B and C).

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