OBJECTIVES: I. Assess the biosynthesis of cholesterol and cholestanol, and measure the
turnover of individual sterols and bile acids in patients with cerebrotendinous
xanthomatosis before and after a cholesterol- and cholestanol-free diet.
II. Assess the biosynthesis of cholesterol and cholestanol, and measure the turnover of
individual sterols and bile acids in these patients before and after lovastatin and
PROTOCOL OUTLINE: Following a 2-week baseline assessment, patients participate in a feeding
study for up to 3 weeks. The diet is free of cholesterol and cholestanol.
For the next 4 weeks, patients return to their typical diet and are medicated with daily
lovastatin and chenodeoxycholic acid.
The feeding study is repeated for an additional 3 weeks, with the patient taking either
lovastatin or chenodeoxycholic acid.
PROTOCOL ENTRY CRITERIA: Cerebrotendinous xanthomatosis