Data from: Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy

Objective: To evaluate the features and maturational changes in overall callosal shape in patients with pyridoxine-dependent epilepsy (PDE). Methods: Measurements were conducted through landmark based geometric morphometrics applied on cerebral MRIs of PDE patients and age-matched control subjects. The outline of the corpus callosum was manually traced in the midsagittal plane. 300 semi-landmarks along the outline were collected and underwent statistical generalized Procrustes analysis. An allometric regression was applied to evaluate the callosal shape due to growth over time. Results: 38 patients with PDE and 38 age- and sex-matched control subjects were included. Mean age at the time of the MRI in the patient group was 9.3 years (median 6.3 years, range 0.01- 48 years). Significant differences (p<0.01) in the mean callosal shape between patients and controls were found. The allometric regression model revealed significant shape variations (p<0.01) between the two study groups across the developmental course after controlling for the effect of callosal size on shape. This latter effect turned out to be significant as well (p<0.001). Conclusions: Patients with PDE show an altered callosal shape and variations in callosal ontogeny which are likely secondary to the underlying genetic defect with abnormal function of antiquitin, the product of the ALDH7A1 gene

Supplemental Figure 7Fig7_labelled

Supplemental Figure 7. Midsagittal cerebral MRI slices of all control subjects. For image preparation we refer to suppl. Figure 6. The light green point corresponds to the rectangular projection of the interface between CC and fornix. The yellow numbers relate to the control numbers 1-38 matching to the same corresponding patient numbers

Supplemental Figure 6

Supplemental Figure 6. Midsagittal cerebral MRI slices of all PDE patients. Included are T1-, T2- weighted as well as FLAIR- images. The re-oriented MRI slice was loaded into Osirix software where the callosal outline was traced (red) and the CC was colored (black or white). The light green point corresponds to the rectangular projection of the interface between CC and fornix. All annotations with identifying data on the image were cropped. The yellow numbers correspond to the patient numbers 1-38