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.