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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

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References

  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

    Article  CAS  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  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

    CAS  PubMed  Google Scholar 

  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

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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

    Article  CAS  PubMed  Google Scholar 

  6. Lütjohann D, Björkhem I, Friedrichs S, Kerksiek A, Lovgren-Sandblom A, Geilenkeuser WJ, Ahrends R, Andrade I, Ansorena D, Astiasaran I, Baila-Rueda L, Barriuso B, Becker S, Bretillon L, Browne RW, Caccia C, Ceglarek U, Cenarro A, Crick PJ, Fauler G, Garcia-Llatas G, Gray R, Griffiths WJ, Gylling H, Harding S, Helmschrodt C, Iuliano L, Janssen HG, Jones P, Kaipiainen L, Kannenberg F, Lagarda MJ, Leoni V, Lottenberg AM, MacKay DS, Matysik S, McDonald J, Menendez-Carreno M, Myrie SB, Sutti Nunes V, Ostlund RE, Polisecki E, Ramos F, Rideout TC, Schaefer EJ, Schmitz G, Wang Y, Zerbinati C, Diczfalusy U, Schott HF (2019) First international descriptive and interventional survey for cholesterol and non-cholesterol sterol determination by gas- and liquid-chromatography-Urgent need for harmonisation of analytical methods. J Steroid Biochem Mol Biol 190:115–125. https://doi.org/10.1016/j.jsbmb.2019.03.025

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Baila-Rueda L, Lamiquiz-Moneo I, Jarauta E, Mateo-Gallego R, Perez-Calahorra S, Marco-Benedi V, Bea AM, Cenarro A, Civeira F (2018) Association between non-cholesterol sterol concentrations and achilles tendon thickness in patients with genetic familial hypercholesterolemia. J Transl Med 16:6. https://doi.org/10.1186/s12967-018-1380-3

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Mosig S, Rennert K, Buttner P, Krause S, Lütjohann D, Soufi M, Heller R, Funke H (2008) Monocytes of patients with familial hypercholesterolemia show alterations in cholesterol metabolism. BMC Med Genomics 1:60. https://doi.org/10.1186/1755-8794-1-60

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Hedman M, Miettinen TA, Gylling H, Ketomaki A, Antikainen M (2006) Serum noncholesterol sterols in children with heterozygous familial hypercholesterolemia undergoing pravastatin therapy. J Pediatr 148:241–246. https://doi.org/10.1016/j.jpeds.2005.08.068

    Article  CAS  PubMed  Google Scholar 

  10. Lütjohann D, Björkhem I, Beil UF, von Bergmann K (1995) Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: effect of sitostanol treatment. J Lipid Res 36:1763–1773

    PubMed  Google Scholar 

  11. Brinton EA, Hopkins PN, Hegele RA, Geller AS, Polisecki EY, Diffenderfer MR, Schaefer EJ (2018) The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred. J Clin Lipidol 12:152–161. https://doi.org/10.1016/j.jacl.2017.10.013

    Article  PubMed  Google Scholar 

  12. Hahn C, Reichel C, von Bergmann K (1995) Serum concentration of 7 alpha-hydroxycholesterol as an indicator of bile acid synthesis in humans. J Lipid Res 36:2059–2066

    CAS  PubMed  Google Scholar 

  13. Mignarri A, Magni A, Del Puppo M, Gallus GN, Björkhem I, Federico A, Dotti MT (2016) Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. J Inherit Metab Dis 39:75–83. https://doi.org/10.1007/s10545-015-9873-1

    Article  CAS  PubMed  Google Scholar 

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Correspondence to Dieter Lütjohann.

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Lütjohann, D., Stellaard, F. & Björkhem, I. 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. J Neurol 267, 572–573 (2020). https://doi.org/10.1007/s00415-019-09650-0

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  • DOI: https://doi.org/10.1007/s00415-019-09650-0

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