Fig. 3.

Analysis of metabolites of the classical CYP7A1-dependent pathway and of the alternative CYP27A1-dependent pathway for bile acid synthesis. A–H: Serum concentrations of free oxysterols measured by LC-ESI-MS are presented in the upper panel and CSF findings in the lower panel. Healthy controls are indicated in green, untreated patients with CTX in red and patients treated with 750 mg/d CDCA in blue. Individual data points and mean ± SD are presented on a logarithmic scale with antilog numbering. Absolute values of zero correspond to log-values of ∼0.7. Square-shaped data points highlight patients with CTX with low cholestanol levels and triangular points highlight the patient we obtained data from before and after CDCA treatment. ∗P < 0.0125 calculated by one-way ANOVA and Fisher’s LSD or by Kruskal-Wallis and Mann-Whitney-U tests. ∗ are only indicated for significant pair-wise comparisons. CDCA, chenodeoxycholic acid; CTX, cerebrotendinous xanthomatosis.