Levels of 7alpha-hydroxycholesterol and/or 7alpha-hydroxy-4-cholest-3-one are the optimal biochemical markers for the evaluation of treatment of cerebrotendinous xanthomatosis

Author:

Lütjohann DieterORCID,Stellaard Frans,Björkhem IngemarORCID

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Reference13 articles.

1. Mandia D, Chaussenot A, Besson G, Lamari F, Castelnovo G, Curot J, Duval F, Giral P, Lecerf JM, Roland D, Pierdet H, Douillard C, Nadjar Y (2019) Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults. J Neurol 266:2043–2050. https://doi.org/10.1007/s00415-019-09377-y

2. Ellis E, Axelson M, Abrahamsson A, Eggertsen G, Thorne A, Nowak G, Ericzon BG, Björkhem I, Einarsson C (2003) Feedback regulation of bile acid synthesis in primary human hepatocytes: evidence that CDCA is the strongest inhibitor. Hepatology 38:930–938. https://doi.org/10.1053/jhep.2003.50394

3. Salen G, Batta AK, Tint GS, Shefer S, Ness GC (1994) Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia. J Lipid Res 35:1878–1887

4. Skrede S, Björkhem I, Buchmann MS, Hopen G, Fausa O (1985) A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated C27-steroids as intermediates, and its importance for the accumulation of cholestanol in cerebrotendinous xanthomatosis. J Clin Invest 75:448–455. https://doi.org/10.1172/JCI111719

5. Lütjohann D, Björkhem I, Friedrichs S, Kerksiek A, Geilenkeuser WJ, Lovgren-Sandblom A, Ansorena D, Astiasaran I, Baila-Rueda L, Barriuso B, Bretillon L, Browne RW, Caccia C, Cenarro A, Crick PJ, Fauler G, Garcia-Llatas G, Griffiths WJ, Iuliano L, Lagarda MJ, Leoni V, Lottenberg AM, Matysik S, McDonald J, Rideout TC, Schmitz G, Nunes VS, Wang Y, Zerbinati C, Diczfalusy U, Schott HF (2018) International descriptive and interventional survey for oxycholesterol determination by gas- and liquid-chromatographic methods. Biochimie 153:26–32. https://doi.org/10.1016/j.biochi.2018.07.016

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