Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis

Jean-Baptiste Bonnet^{1

2}, Philippe Couvert^{3

4

5}, Mathilde Di-Filippo^{6

7}, Florian Boissiere⁸, Jean-Paul Cristol^{9

10}, Thibault Sutra¹⁰, David Cheillan^{7

11}, Philippe Moulin^{7

12}, Ariane Sultan^{2

9}

Affiliations

¹ UMR 1302, Desbrest Institute of Epidemiology and Public Health, University of Montpellier, INSERM, CHU, Montpellier, France.
² Endocrinology-Diabetes-Nutrition Department, CHU Montpellier, University of Montpellier, Montpellier, France.
³ APHP, Sorbonne University, Pitié-Salpêtrière Hospital, Endocrine and Oncologic Biochemistry, Paris, France.
⁴ National Institute for Health and Medical Research (INSERM) UMR_S 1166, Faculty of Medicine Pitie-Salpêtriere, Paris, France.
⁵ Sorbonne University, Paris, France.
⁶ Dyslipidemia, Nutritional and Digestive Dysfunctions Unit, Department of Biochemistry and Molecular Biology, Biology and Pathology Center - East, Hospices Civils de Lyon, Bron, France.
⁷ CarMeN Laboratory, UMR INSERM U1060/INRA U1397, Claude Bernard Lyon 1 University, Bron, France.
⁸ Department of Plastic, Reconstructive and Aesthetic Surgery, Burns and Wound Healing Unit, CHRU Lapeyronie, Montpellier, France.
⁹ PhyMedExp, University of Montpellier, INSERM U1046, CNRS UMR 9214, M, ontpellier, France.
¹⁰ Department of Biochemistry, Hôpital Lapeyronie, CHU Montpellier, Montpellier, France.
¹¹ Inborn Errors of Metabolism Unit, Department of Biochemistry and Molecular Biology, Biology and Pathology Center - East, Hospices Civils de Lyon, Bron, France.
¹² Department of Endocrinology, Nutrition and Metabolic Diseases, Hospices Civils de Lyon, Louis Pradel Cardiovascular Hospital, Bron, France.

Free article

Jean-Baptiste Bonnet et al. J Intern Med. 2023 Jan.

Free article

. 2023 Jan;293(1):121-123.

doi: 10.1111/joim.13568. Epub 2022 Sep 20.

¹ UMR 1302, Desbrest Institute of Epidemiology and Public Health, University of Montpellier, INSERM, CHU, Montpellier, France.
² Endocrinology-Diabetes-Nutrition Department, CHU Montpellier, University of Montpellier, Montpellier, France.
³ APHP, Sorbonne University, Pitié-Salpêtrière Hospital, Endocrine and Oncologic Biochemistry, Paris, France.
⁴ National Institute for Health and Medical Research (INSERM) UMR_S 1166, Faculty of Medicine Pitie-Salpêtriere, Paris, France.
⁵ Sorbonne University, Paris, France.
⁶ Dyslipidemia, Nutritional and Digestive Dysfunctions Unit, Department of Biochemistry and Molecular Biology, Biology and Pathology Center - East, Hospices Civils de Lyon, Bron, France.
⁷ CarMeN Laboratory, UMR INSERM U1060/INRA U1397, Claude Bernard Lyon 1 University, Bron, France.
⁸ Department of Plastic, Reconstructive and Aesthetic Surgery, Burns and Wound Healing Unit, CHRU Lapeyronie, Montpellier, France.
⁹ PhyMedExp, University of Montpellier, INSERM U1046, CNRS UMR 9214, M, ontpellier, France.
¹⁰ Department of Biochemistry, Hôpital Lapeyronie, CHU Montpellier, Montpellier, France.
¹¹ Inborn Errors of Metabolism Unit, Department of Biochemistry and Molecular Biology, Biology and Pathology Center - East, Hospices Civils de Lyon, Bron, France.
¹² Department of Endocrinology, Nutrition and Metabolic Diseases, Hospices Civils de Lyon, Louis Pradel Cardiovascular Hospital, Bron, France.

No abstract available

References

1. Cali JJ, Hsieh CL, Francke U, Russell DW. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 1991;266(12):7779-83.
1. Appadurai V, DeBarber A, Chiang PW, Patel SB, Steiner RD, Tyler C, et al. Apparent underdiagnosis of cerebrotendinous xanthomatosis revealed by analysis of ∼60,000 human exomes. Mol Genet Metab. 2015;116(4):298-304.
1. Sekijima Y, Koyama S, Yoshinaga T, Koinuma M, Inaba Y. Nationwide survey on cerebrotendinous xanthomatosis in Japan. J Hum Genet. 2018;63(3):271-80.
1. Guenzel AJ, DeBarber A, Raymond K, Dhamija R. Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings. JIMD Rep. 2021;59(1):3-9.
1. Verrips A, Lycklama à Nijeholt GJ, Barkhof F, Van Engelen BGM, Wesseling P, Luyten J Q FM, et al. Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. Brain. 1999;122(8):1589-95.