Page last updated: 2024-08-21

chenodeoxycholic acid and Cerebral Cholesterinosis

chenodeoxycholic acid has been researched along with Cerebral Cholesterinosis in 98 studies

Research

Studies (98)

Timeframe	Studies, this research(%)	All Research%
pre-1990	1 (1.02)	18.7374
1990's	5 (5.10)	18.2507
2000's	33 (33.67)	29.6817
2010's	41 (41.84)	24.3611
2020's	18 (18.37)	2.80

Authors

Authors	Studies
Hoshino, T; Nagata, S; Tominaga, M; Zaizen, Y	1
Chang, CC; Chang, WN; Lee, JJ	1
Briké, SM; Cassiman, D; Meersseman, W	1
Igari, R; Iseki, C; Koyama, S; Ohta, Y; Okabe, Y; Sato, H; Suzuki, K; Suzuki, Y; Tanji, K	1
Bugalho, P; Cabral, P; Magriço, M	1
Hendriks, E; Kluijtmans, LAJ; Lycklama À Nijeholt, GJ; Stelten, BML; Verrips, A; Wevers, RA	1
Boissiere, F; Bonnet, JB; Cheillan, D; Couvert, P; Cristol, JP; Di-Filippo, M; Moulin, P; Sultan, A; Sutra, T	1
Brassier, A; Bremond-Gignac, D; Dureau, P; Fernández-Eulate, G; Gillard, P; Lamari, F; Martin, GC; Nadjar, Y; Pagan, C; Speeg-Spatz, C; Thouvenin, D	1
Barto, R; Bootsma, AH; Bouva, MJ; DeBarber, AE; Gelb, MH; He, T; Huidekoper, HH; Jamal, Y; Kleise, N; Nelen, MR; Salomons, GS; van der Zee, W; Vaz, FM; Verrips, A; Wevers, RA	1
Blackstone, C; Chai, E; Chen, Z; Criscuolo, C; Fraidakis, MJ; Li, XJ; Mou, Y; Mukte, S; Nandi, G; Nielsen, JE; Nielsen, TT	1
Kemper, EM; Knop, FK; Majait, S; Meessen, ECE; Nierop, SV; Nieuwdorp, M; Olde Damink, SW; Romijn, JA; Schaap, FG; Soeters, MR; Vaz, FM; Verrips, A	1
Cea, G; Contreras, JP; Guajardo, G; López, I; Martínez, A	1
Dotti, MT; Federico, A; Mignarri, A; Stelten, BML; Verma, S; Verrips, A	1
Bisecco, A; Capuano, R; Caputo, M; Cirillo, M; Corso, G; D'Amico, A; Di Taranto, MD; Fortunato, G; Gelzo, M; Giacobbe, C; Tedeschi, G	1
Akca Kalem, S; Bilgic, B; Dogu, O; Emre, M; Gurvit, HI; Hanagasi, HA; Kaleagasi, H; Lohmann, E; Tufekcioglu, Z; Yunisova, G	1
Koyama, S; Mochizuki, Y; Morizumi, T; Nakamura, K; Sekijima, Y; Takasone, K; Yoshinaga, T	1
Behzad-Noori, D; Brennan, K; Burgess, J; Longman, C	1
Ma, C; Ren, YD; Su, HW; Wang, CJ; Wang, JC; Zhao, JP; Zhou, T	1
Arslan, N; Baydan, F; Celik, FND; Dorum, S; Ekici, A; Gorukmez, O; Gulten, ZA; Hismi, BO; Kısa, PT; Kusbeci, OY; Ozkan, S; Topak, A; Yaman, A; Yildirim, GK	1
Hollak, CEM	1
Alhariri, A; Cordoro, K; Hamilton, K; Malloy, M; Oza, V; Slavotinek, A; Sobreira, NL	1
Bonnot, O; Huidekoper, HH; Kluijtmans, LAJ; Stelten, BML; van Hasselt, PM; van Spronsen, FJ; Verrips, A; Wevers, RA	1
Salen, G; Steiner, RD	1
Aktuglu-Zeybek, C; Cansever, MS; Demircioglu, D; Kiykim, E; Yalcinkaya, C; Yesil, G; Zubarioglu, T	1
DeBarber, AE; Duell, PB; Loh, AR; Tibrewal, S	1
Bartkiewicz, J; Biskup, S; Catarino, CB; Gallenmüller, C; Hörtnagel, K; Klopstock, T; Küpper, C; Seelos, K; Vollmar, C	1
Eichler, FS; Hayden, D; Walsh, K; Wong, JC	1
Amador, MDM; Debs, R; Degos, B; Lamari, F; Masingue, M; Mochel, F; Perlbarg, V; Roze, E	1
Ratliff, J; Weissfeld, T	1
Björkhem, I; Eggertsen, G; Eriksson, M; Hall, S; Kvorning, O; Olin, M; Puschmann, A; Wärme, AK	1
Elibol, B; Gocmen, R; Mutlu, D; Saygı, S; Tuncer, A; Yalcin-Cakmakli, G	1
Distrutti, E; Fiorucci, S	1
Beckx, K; Dhar, M; Eyskens, F; Luyckx, E; Simons, A; Van West, D	1
Di Sapio, A; Dotti, MT; Federico, A; Gallus, GN; Giachino, DF; Mandrile, G; Montella, A; Mura, G; Sotgiu, MA; Ulgheri, L	1
Balogh, I; Harangi, J; Harangi, M; Kapás, I; Katkó, M; Kovács, GG; Madar, L; Molnár, MJ; Paragh, G; Seres, I; Varga, VE	1
Chiang, JP; de Souza, CF; DeBarber, AE; Giugliani, R; Merkens, LS; Saute, JA	1
Maiz, A; Preiss, Y; Santos, JL; Smalley, SV	1
Ikeda, S; Kato, T; Koyama, S; Maruyama, K; Sekijima, Y; Yoshida, T; Yoshinaga, T	1
Brienza, M; Cambieri, C; Dotti, MT; Fiermonte, G; Fiorelli, M; Mignarri, A	1
Björkhem, I; Del Puppo, M; Dotti, MT; Federico, A; Gallus, GN; Magni, A; Mignarri, A	1
Bosch, AM; Huidekoper, HH; Vaz, FM; Verrips, A	1
Appadurai, V; Bonnen, PE; Chiang, PW; DeBarber, A; Patel, SB; Steiner, RD; Tyler, C	1
Cavallieri, F; Guaraldi, P; Mandrioli, J; Nichelli, PF; Rosafio, F; Taroni, F	1
Dunbar, K; Stevens, CA; Usifo, K; Varman, KM	1
Kato, T; Koyama, S	1
Abdel-Hamid, MS; Issa, MY; Otaify, GA; Zaki, MS	1
Mehta, BP; Shmerling, RH	1
Berger, R; de Barse, M; de Sain-van der Velden, MG; Prinsen, BH; Verrips, A; Visser, G	1
Aaref, S; Berginer, VM; Falik-Zaccai, TC; Gross, B; Kfir, N; Morad, K; Morkos, S	1
Alcalay, R; Frucht, S; Patel, S; Wu, S	1
Sikkens, H; van Spronsen, FJ; Verrips, A; Wevers, RA	1
Falik-Zaccai, TC; Keren, Z	1
Jayakrishnan, C; Sadanan, S; Sandeep, P; Sreekumar, S; Thulasidharan, NK	1
Bonnot, O; Chauvin, D; Cohen, D; Dubourg, O; Fraidakis, MJ; Kelley, N; Lucanto, R; Lyon-Caen, O; Plaza, M; Sedel, F	1
Auff, E; Kasprian, G; Krssák, M; Prayer, D; Seidel, S; Sycha, T	1
Ballerini, M; Del Puppo, M; Dotti, MT; Federico, A; Gallus, GN; Galluzzi, P; Mignarri, A; Rossi, S	1
Chang, CC; Chang, WN; Chen, SF; Chuang, YC; Huang, CR; Lu, CH; Tsai, NW	1
Ahrens, N; Black, A; Matysik, S; Orsó, E; Schmitz, G	1
Anadiotis, G; Bock, CJ; DeBarber, AE; Merkens, LS; Monson, DM; Steiner, RD; Stout, AU	1
Hur, KY; Jin, SM; Ki, CS; Kim, HK; Kim, JH; Kim, KW; Kim, MY; Kim, SW; Park, HD; Suh, S	1
Arawaka, S; Kato, T; Kawanami, T; Koyama, S; Saito, N; Tanji, H; Wada, M	1
Bosch, EP; McKinnon, JH	1
Del Puppo, M; Dotti, MT; Federico, A; Gallus, GN; Ginanneschi, F; Giorgi, S; Mignarri, A; Mondelli, M; Rossi, A	1
Caroppo, P; D'Agata, F; Dotti, MT; Mignarri, A; Mongini, T; Stromillo, ML	1
Del Puppo, M; Dotti, MT; Federico, A; Franci, B; Martini, G; Mignarri, A; Nuti, R; Ruvio, M; Valenti, R	1
Blaabjerg, M; Marjanovic, D	1
Grau, AJ; Heller, R; Schäbitz, WR; Schwaninger, M	1
Clayton, PT; Mann, A; Mieli-Vergani, G; Sistermans, E; Verrips, A; Wevers, R	1
Dotti, MT; Federico, A	2
Seyama, Y	1
Arai, H; Hattori, T; Ito, S; Kuwabara, S; Oda, S; Oki, T; Sakakibara, R	1
Batta, AK; Salen, G; Tint, GS	1
Fujita, M; Hirota, D; Kawamura, M; Kinoshita, M; Kubota, S; Kusano, J; Suda, T; Takao, K; Takenaka, H; Taki, M; Teramoto, T	1
Matschke, J; Sperhake, JP	1
Dotti, MT; Federico, A; Lütjohann, D; von Bergmann, K	1
Batta, AK; Doy, M; Hirayama, T; Honda, A; Matsuzaki, Y; Salen, G; Shefer, S; Tint, GS; Xu, G	1
Clarenbach, JJ; Dotti, MT; Federico, A; Kelleher, JK; Lindenthal, B; von Bergmann, K	1
Clemen, CS; Dodel, R; Klockgether, T; Lütjohann, D; Spottke, EA; Urbach, H; von Bergmann, K	1
Fink, JK; Lorincz, MT; Rainier, S; Thomas, D	1
Gadoth, N; Meiner, V; Siman-Tov, T	1
Kellermayer, R; Kosztolányi, G; Morava, E; Pfund, Z; Sistermans, E; Tészás, A; Wevers, RA	1
Ben-Ari, A; Boutboul, E; Gershkovich, P; Gotkine, M; Harats, D; Hoffman, A; Leitersdorf, E; Liberman, Y; Meiner, V; Shaish, A; Szalat, A	1
Burghaus, L; Haupt, WF; Liu, W	1
Chawla, BP; Mukherjee, AA; Puthran, RS; Rathi, SS	1
Cruysberg, JR; Renier, WO; Tangerman, A; Tolboom, JJ; van Heijst, AF; Wevers, RA	1
Berginer, VM	1
Cruysberg, JR; Renier, WO; Tolboom, JJ; van Heijst, AF; Verrips, A; Wevers, RA	1
Kinoshita, M; Teramoto, T	1
Barkhof, F; De Graaf, R; Gabreëls, FJ; Janssen-Zijlstra, F; Keyser, A; Stalenhoef, A; Van Engelen, BG; Van Spreeken, A; Verrips, A; Wevers, RA; Wolthers, BG	1
Biller, J; Fleck, JD; Mathews, VP	1
Koffman, BM; Samenuk, P	1
Deering, N; Eliav, B; Mosbach, EH; Salen, G; Tint, GS	1
Inoue, K; Kubota, S; Seyama, Y	1
Ko, KF; Lee, KW	1
Bel, S; Castells, A; Díaz, P; García-Patos, V; Rodríguez, L; Selva, A; Wolthers, BG	1
Bindl, L; Lentze, MJ; Lütjohann, D; von Bergmann, K	1
Dotti, MT; Federico, A; Mondelli, M; Scarpini, C; Sicurelli, F	1

Reviews

13 review(s) available for chenodeoxycholic acid and Cerebral Cholesterinosis

Article	Year
The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature. Medicine, 2021, Mar-05, Volume: 100, Issue:9 Topics: Achilles Tendon; Adult; Ankle Joint; Chenodeoxycholic Acid; Humans; Magnetic Resonance Imaging; Male; Nervous System Diseases; Xanthomatosis, Cerebrotendinous	2021
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). Journal of inherited metabolic disease, 2017, Volume: 40, Issue:6 Topics: Animals; Chenodeoxycholic Acid; Cholesterol; Disease Progression; Early Diagnosis; Humans; Xanthomatosis, Cerebrotendinous	2017
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:4 Topics: Adult; Aged; Brain; Chenodeoxycholic Acid; Disease Progression; Female; Humans; Magnetic Resonance Imaging; Male; Nervous System Diseases; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2018
Chenodeoxycholic Acid: An Update on Its Therapeutic Applications. Handbook of experimental pharmacology, 2019, Volume: 256 Topics: Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Humans; Liver; Receptors, Cytoplasmic and Nuclear; Receptors, G-Protein-Coupled; Xanthomatosis, Cerebrotendinous	2019
[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis]. Orvosi hetilap, 2014, May-25, Volume: 155, Issue:21 Topics: Brain; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Clinical Laboratory Techniques; Early Diagnosis; Gas Chromatography-Mass Spectrometry; Gene Expression Regulation, Enzymologic; Genetic Testing; Global Health; Humans; Hungary; Infant, Newborn; Neonatal Screening; Rare Diseases; Tendons; Xanthomatosis, Cerebrotendinous	2014
[Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics]. Revista medica de Chile, 2014, Volume: 142, Issue:5 Topics: Chenodeoxycholic Acid; Early Diagnosis; Humans; Xanthomatosis, Cerebrotendinous	2014
Pathophysiology of cerebrotendinous xanthomatosis. Rinsho shinkeigaku = Clinical neurology, 2016, 12-28, Volume: 56, Issue:12 Topics: Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Diagnosis, Differential; Disease Progression; Early Diagnosis; Humans; Mutation; Severity of Illness Index; Xanthomatosis, Cerebrotendinous	2016
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. Pediatric endocrinology reviews : PER, 2009, Volume: 7, Issue:1 Topics: Animals; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Gastrointestinal Agents; Genetic Counseling; Genetic Testing; Humans; Mutation; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2009
Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy. Journal of child neurology, 2003, Volume: 18, Issue:9 Topics: Age of Onset; Chenodeoxycholic Acid; Humans; Magnetic Resonance Imaging; Xanthomatosis, Cerebrotendinous	2003
Cholestanol metabolism, molecular pathology, and nutritional implications. Journal of medicinal food, 2003,Fall, Volume: 6, Issue:3 Topics: Animals; Calcium Channels; Cell Membrane; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Disease Models, Animal; Mice; Mutation; Rats; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	2003
Aspects of cerebrotendinous xanthomatosis (CTX). Neurologia i neurochirurgia polska, 1996, Volume: 30 Suppl 2 Topics: Bile Acids and Salts; Chenodeoxycholic Acid; Diagnostic Errors; Humans; Xanthomatosis, Cerebrotendinous	1996
[Cerebrotendinous xanthomatosis (CTX)]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Biomarkers; Chenodeoxycholic Acid; Cholagogues and Choleretics; Cholestanetriol 26-Monooxygenase; Cholestanol; Cytochrome P-450 Enzyme System; Diagnosis, Differential; Humans; Mitochondria; Prognosis; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	1998
[Cerebrotendinous xanthomatosis]. Nihon rinsho. Japanese journal of clinical medicine, 2001, Volume: 59 Suppl 3 Topics: Animals; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cytochrome P-450 Enzyme System; Diagnosis, Differential; Humans; Mutation; Prognosis; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	2001

Trials

5 trial(s) available for chenodeoxycholic acid and Cerebral Cholesterinosis

Article	Year
Combined treatment with LDL-apheresis, chenodeoxycholic acid and HMG-CoA reductase inhibitor for cerebrotendinous xanthomatosis. Journal of the neurological sciences, 2003, Dec-15, Volume: 216, Issue:1 Topics: Adult; Blood Component Removal; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Combined Modality Therapy; Drug Therapy, Combination; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Lipoproteins, LDL; Male; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2003
Hydrophilic 7 beta-hydroxy bile acids, lovastatin, and cholestyramine are ineffective in the treatment of cerebrotendinous xanthomatosis. Metabolism: clinical and experimental, 2004, Volume: 53, Issue:5 Topics: Adult; Anticholesteremic Agents; Bile; Bile Acids and Salts; Case-Control Studies; Chenodeoxycholic Acid; Cholestanols; Cholesterol; Cholestyramine Resin; Cholic Acids; Homozygote; Humans; Lovastatin; Male; Middle Aged; Ursodeoxycholic Acid; Xanthomatosis, Cerebrotendinous	2004
Rifampicin-induced CYP3A4 activation in CTX patients cannot replace chenodeoxycholic acid treatment. Biochimica et biophysica acta, 2007, Volume: 1771, Issue:7 Topics: Adult; Antibiotics, Antitubercular; Bile Acids and Salts; Chenodeoxycholic Acid; Cholestanol; Cytochrome P-450 CYP3A; Cytochrome P-450 Enzyme System; Enzyme Activation; GABA Modulators; Humans; Male; Midazolam; Rifampin; Xanthomatosis, Cerebrotendinous	2007
Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis. Metabolism: clinical and experimental, 1999, Volume: 48, Issue:2 Topics: Adult; Anticholesteremic Agents; Chenodeoxycholic Acid; Cholesterol; Female; Gastrointestinal Agents; Humans; Kidney Function Tests; Lipids; Liver Function Tests; Male; Middle Aged; Simvastatin; Xanthomatosis, Cerebrotendinous	1999
Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study. Journal of the neurological sciences, 2001, Sep-15, Volume: 190, Issue:1-2 Topics: Adult; Chenodeoxycholic Acid; Cholestanol; Evoked Potentials, Auditory, Brain Stem; Evoked Potentials, Somatosensory; Evoked Potentials, Visual; Female; Gastrointestinal Agents; Humans; Male; Nervous System; Neural Conduction; Reaction Time; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2001

Other Studies

80 other study(ies) available for chenodeoxycholic acid and Cerebral Cholesterinosis

Article	Year
Cerebrotendinous xanthomatosis with radiological abnormalities of the chest. BMJ case reports, 2021, Sep-03, Volume: 14, Issue:9 Topics: Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Humans; Male; Middle Aged; Radiography; Xanthomatosis, Cerebrotendinous	2021
Using fiber tractography and diffusion kurtosis imaging to evaluate neuroimaging changes in patients with cerebrotendinous xanthomatosis after stopping chenodeoxycholic acid treatment for three years. Biomedical journal, 2022, Volume: 45, Issue:5 Topics: Chenodeoxycholic Acid; Diffusion Tensor Imaging; Humans; Neuroimaging; White Matter; Xanthomatosis, Cerebrotendinous	2022
Patents vs patients 1-0: The case of chenodeoxycholic acid. Journal of inherited metabolic disease, 2022, Volume: 45, Issue:2 Topics: Chenodeoxycholic Acid; Humans; Xanthomatosis, Cerebrotendinous	2022
Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report. BMC neurology, 2022, May-25, Volume: 22, Issue:1 Topics: Cataract; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Diarrhea; Humans; Japan; Male; Mutation; Siblings; Xanthomatosis; Xanthomatosis, Cerebrotendinous	2022
Cerebrotendinous xanthomatosis: clinical and imaging clues of a rare treatable cause of ataxia. BMJ case reports, 2022, 07-20, Volume: 15, Issue:7 Topics: Ataxia; Chenodeoxycholic Acid; Diagnostic Imaging; Humans; Magnetic Resonance Imaging; Xanthomatosis; Xanthomatosis, Cerebrotendinous	2022
Long-term MRI Findings in Patients With Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid. Neurology, 2022, 09-27, Volume: 99, Issue:13 Topics: Adult; Chenodeoxycholic Acid; Cohort Studies; Humans; Magnetic Resonance Imaging; Retrospective Studies; Xanthomatosis, Cerebrotendinous; Young Adult	2022
Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis. Journal of internal medicine, 2023, Volume: 293, Issue:1 Topics: Chenodeoxycholic Acid; Cholestanol; Cholesterol; Humans; Xanthomatosis; Xanthomatosis, Cerebrotendinous	2023
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts. Orphanet journal of rare diseases, 2022, 12-13, Volume: 17, Issue:1 Topics: Adolescent; Adult; Cataract; Chenodeoxycholic Acid; Child; Child, Preschool; Cholestanol; Female; Humans; Infant; Prospective Studies; Xanthomatosis, Cerebrotendinous; Young Adult	2022
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns. Clinica chimica acta; international journal of clinical chemistry, 2023, Jan-15, Volume: 539 Topics: Chenodeoxycholic Acid; Chromatography, Liquid; Humans; Infant, Newborn; Neonatal Screening; Retrospective Studies; Tandem Mass Spectrometry; Xanthomatosis, Cerebrotendinous	2023
Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients. Orphanet journal of rare diseases, 2023, 04-06, Volume: 18, Issue:1 Topics: Bile Acids and Salts; Chenodeoxycholic Acid; Humans; Induced Pluripotent Stem Cells; Neurons; Paraplegia; Spastic Paraplegia, Hereditary; Xanthomatosis, Cerebrotendinous	2023
Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis. Nutrients, 2023, Oct-31, Volume: 15, Issue:21 Topics: Bile Acids and Salts; Chenodeoxycholic Acid; Cytochrome P-450 Enzyme System; Glucagon-Like Peptide 1; Glucose; Humans; Insulin; Xanthomatosis, Cerebrotendinous	2023
[Cerebrotendinous xanthomatosis. Report of one case]. Revista medica de Chile, 2019, Volume: 147, Issue:5 Topics: Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Early Diagnosis; Female; Humans; Magnetic Resonance Imaging; Vitamin D; Xanthomatosis, Cerebrotendinous; Young Adult	2019
The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020, Volume: 41, Issue:4 Topics: Adult; Biomarkers; Chenodeoxycholic Acid; Cholestanol; Follow-Up Studies; Gastrointestinal Agents; Humans; Italy; Middle Aged; Netherlands; Retrospective Studies; Treatment Outcome; Xanthomatosis, Cerebrotendinous; Young Adult	2020
A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene. Acta neurologica Belgica, 2021, Volume: 121, Issue:2 Topics: Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Female; Humans; Spinal Cord Diseases; Tendons; Xanthomatosis; Xanthomatosis, Cerebrotendinous; Young Adult	2021
Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis. Neuro-degenerative diseases, 2019, Volume: 19, Issue:5-6 Topics: Adult; Brain; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Delayed Diagnosis; Disease Progression; Female; Follow-Up Studies; Gastrointestinal Agents; Humans; Male; Retrospective Studies; Xanthomatosis, Cerebrotendinous	2019
A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. Internal medicine (Tokyo, Japan), 2020, Oct-15, Volume: 59, Issue:20 Topics: Cervical Cord; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Drug Therapy, Combination; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Magnetic Resonance Imaging; Male; Middle Aged; Mutation, Missense; Spinal Cord; Spinal Diseases; Xanthomatosis, Cerebrotendinous	2020
Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis. BMJ case reports, 2020, Dec-22, Volume: 13, Issue:12 Topics: Administration, Oral; Adult; Ataxia; Celiac Disease; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cognitive Dysfunction; Consanguinity; Delayed Diagnosis; Diet, Gluten-Free; DNA Mutational Analysis; Humans; Male; Medical History Taking; Mutation, Missense; Pedigree; Peripheral Nervous System Diseases; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2020
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement. Metabolic brain disease, 2021, Volume: 36, Issue:6 Topics: Adolescent; Adult; Chenodeoxycholic Acid; Child; Cholestanol; Cross-Sectional Studies; Early Diagnosis; Female; Humans; Male; Middle Aged; Xanthomatosis, Cerebrotendinous	2021
Expanding the clinical spectrum of cerebrotendinous xanthomatosis: Implications for newborn screening, follow-up and treatment. Journal of internal medicine, 2021, Volume: 290, Issue:5 Topics: Chenodeoxycholic Acid; Follow-Up Studies; Humans; Infant, Newborn; Neonatal Screening; Xanthomatosis, Cerebrotendinous	2021
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. American journal of medical genetics. Part A, 2017, Volume: 173, Issue:8 Topics: Achilles Tendon; Adult; Bile Acids and Salts; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Codon, Nonsense; Humans; Male; Xanthomatosis, Cerebrotendinous	2017
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:4 Topics: Adolescent; Adult; Autism Spectrum Disorder; Cataract; Chenodeoxycholic Acid; Child; Child, Preschool; Cholestanol; Diarrhea; Female; Humans; Intellectual Disability; Male; Retrospective Studies; Xanthomatosis, Cerebrotendinous; Young Adult	2018
Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey. Acta neurologica Belgica, 2019, Volume: 119, Issue:3 Topics: Adolescent; Chenodeoxycholic Acid; Child; Female; Follow-Up Studies; Gastrointestinal Agents; Humans; Male; Retrospective Studies; Treatment Outcome; Turkey; Xanthomatosis, Cerebrotendinous	2019
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2017, Volume: 21, Issue:6 Topics: Astigmatism; Cataract; Cataract Extraction; Cathartics; Chenodeoxycholic Acid; Child; Cholestanol; Early Diagnosis; Humans; Male; Myopia; Visual Acuity; Xanthomatosis, Cerebrotendinous	2017
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. Journal of neurology, 2018, Volume: 265, Issue:2 Topics: Adult; Anisotropy; Brain; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Diffusion Tensor Imaging; Female; Gastrointestinal Agents; Humans; Image Processing, Computer-Assisted; Magnetic Resonance Imaging; Male; Mutation; Prospective Studies; Xanthomatosis, Cerebrotendinous	2018
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:5 Topics: Adolescent; Adult; Brain; Chenodeoxycholic Acid; Child; Cholestanol; Diarrhea; Electromyography; Female; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Middle Aged; Neurodegenerative Diseases; Neurologic Examination; Retrospective Studies; Severity of Illness Index; Xanthomatosis, Cerebrotendinous; Young Adult	2018
Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2018, Volume: 53 Topics: Cerebellar Ataxia; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Female; Humans; Middle Aged; Mutation, Missense; Neuroprotective Agents; Riluzole; Xanthomatosis, Cerebrotendinous	2018
Lakartidningen, 2018, 09-20, Volume: 115 Topics: Achilles Tendon; Adult; Chenodeoxycholic Acid; Early Diagnosis; Early Medical Intervention; Female; Gastrointestinal Agents; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Xanthomatosis, Cerebrotendinous	2018
Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis. Neurology, 2019, 02-26, Volume: 92, Issue:9 Topics: Adult; Cerebellar Nuclei; Cerebral Crus; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Female; Humans; Internal Capsule; Late Onset Disorders; Magnetic Resonance Imaging; Spinal Cord; Spinal Cord Diseases; Xanthomatosis, Cerebrotendinous	2019
Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: a case report. Clinical neurology and neurosurgery, 2014, Volume: 118 Topics: Adult; Atorvastatin; Chenodeoxycholic Acid; Cognition; Drug Therapy, Combination; Follow-Up Studies; Heptanoic Acids; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Male; Neuropsychological Tests; Pyridines; Pyrroles; Simvastatin; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2014
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014, Volume: 35, Issue:8 Topics: Amino Acid Substitution; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Consanguinity; Diagnosis, Differential; Female; Genotype; Haplotypes; Humans; Italy; Male; Middle Aged; Mutation, Missense; Paraplegia; Phenotype; Point Mutation; Xanthomatosis, Cerebrotendinous	2014
Look carefully to the heels! A potentially treatable cause of spastic paraplegia. Journal of inherited metabolic disease, 2015, Volume: 38, Issue:2 Topics: Achilles Tendon; Adult; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Genetic Predisposition to Disease; Humans; Magnetic Resonance Imaging; Male; Mutation, Missense; Paraplegia; Phenotype; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2015
Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene. Internal medicine (Tokyo, Japan), 2014, Volume: 53, Issue:23 Topics: Achilles Tendon; Alanine; Ataxia; Brain; Cataract; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Deglutition Disorders; Dysarthria; Dystonia; Early Diagnosis; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Middle Aged; Muscle Spasticity; Muscle Weakness; Mutation; Pedigree; Radiography; Treatment Outcome; Valine; Xanthomatosis, Cerebrotendinous	2014
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis. Journal of inherited metabolic disease, 2015, Volume: 38, Issue:5 Topics: Brain; Chenodeoxycholic Acid; Disease Progression; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Neuroimaging; Xanthomatosis, Cerebrotendinous	2015
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. Journal of inherited metabolic disease, 2016, Volume: 39, Issue:1 Topics: Adolescent; Adult; Bile Acids and Salts; Biomarkers; Chenodeoxycholic Acid; Cholestanol; Cholestenones; Cholesterol; Disease Progression; Female; Humans; Hydroxycholesterols; Lipid Metabolism; Male; Middle Aged; Prognosis; Xanthomatosis, Cerebrotendinous; Young Adult	2016
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. European journal of pediatrics, 2016, Volume: 175, Issue:1 Topics: Chemical and Drug Induced Liver Injury; Chenodeoxycholic Acid; Child, Preschool; Encephalitis, Viral; Female; Humans; Infant, Newborn; Neonatal Screening; Parechovirus; Picornaviridae Infections; Xanthomatosis, Cerebrotendinous	2016
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Molecular genetics and metabolism, 2015, Volume: 116, Issue:4 Topics: Africa; Alleles; Americas; Asia; Cataract; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Chronic Disease; Computational Biology; Databases, Genetic; Diarrhea; Europe; Exome; Gene Frequency; Genes, Recessive; Humans; Incidence; Mutation; Xanthomatosis; Xanthomatosis, Cerebrotendinous	2015
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease. Clinical neurology and neurosurgery, 2016, Volume: 143 Topics: Adult; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Pedigree; Rare Diseases; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2016
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases, 2016, Volume: 22, Issue:2 Topics: Aged; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Female; Humans; Mutation; Xanthomatosis, Cerebrotendinous	2016
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. Metabolic brain disease, 2017, Volume: 32, Issue:2 Topics: Adult; Age of Onset; Brain; Cataract; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Disease Progression; Frameshift Mutation; Humans; Learning Disabilities; Magnetic Resonance Imaging; Male; Pedigree; Psychotic Disorders; Seizures; Xanthomatosis, Cerebrotendinous	2017
Teaching neuroimage: cerebrotendinous xanthomatosis. Neurology, 2008, Jul-08, Volume: 71, Issue:2 Topics: Chenodeoxycholic Acid; Humans; Male; Middle Aged; Xanthomatosis, Cerebrotendinous	2008
Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX. Journal of inherited metabolic disease, 2008, Volume: 31 Suppl 2 Topics: Biomarkers; Chenodeoxycholic Acid; Child; Child, Preschool; Cholestadienols; Cholestanol; Cholesterol; Dehydrocholesterols; Humans; Lanosterol; Male; Predictive Value of Tests; Sitosterols; Time Factors; Treatment Outcome; Up-Regulation; Xanthomatosis, Cerebrotendinous	2008
Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. Pediatrics, 2009, Volume: 123, Issue:1 Topics: Adolescent; Adult; Bile Acids and Salts; Cataract; Chenodeoxycholic Acid; Child, Preschool; Chronic Disease; Diagnosis, Differential; Diarrhea; Female; Humans; Male; Mutation; Pedigree; Prevalence; Time; Xanthomatosis, Cerebrotendinous; Young Adult	2009
Oromandibular dystonia as a complication of cerebrotendinous xanthomatosis. Movement disorders : official journal of the Movement Disorder Society, 2009, Jul-15, Volume: 24, Issue:9 Topics: Adult; Cathartics; Cerebellum; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Dystonia; Female; Humans; Magnetic Resonance Imaging; Mutation; Xanthomatosis, Cerebrotendinous	2009
[The right medicine for cerebrotendinous xanthomatosis]. Nederlands tijdschrift voor geneeskunde, 2009, Apr-11, Volume: 153, Issue:15 Topics: Chenodeoxycholic Acid; Humans; Ursodeoxycholic Acid; Xanthomatosis, Cerebrotendinous	2009
Cerebrotendinous xanthomatosis: a treatable neurodegenerative disease. The Journal of the Association of Physicians of India, 2009, Volume: 57 Topics: Adult; Anticonvulsants; Carbamazepine; Chenodeoxycholic Acid; GABA Agents; Gastrointestinal Agents; Humans; Male; Valproic Acid; Xanthomatosis, Cerebrotendinous	2009
Cerebrotendinous xanthomatosis presenting with severe externalized disorder: improvement after one year of treatment with chenodeoxycholic Acid. CNS spectrums, 2010, Volume: 15, Issue:4 Topics: Adolescent; Attention Deficit and Disruptive Behavior Disorders; Attention Deficit Disorder with Hyperactivity; Chenodeoxycholic Acid; Child; Cognition Disorders; Female; Gastrointestinal Agents; Humans; Male; Siblings; Xanthomatosis, Cerebrotendinous	2010
Visualisation of treatment response in a case of cerebrotendinous xanthomatosis. Journal of neurology, neurosurgery, and psychiatry, 2011, Volume: 82, Issue:6 Topics: Adult; Anisotropy; Aspartic Acid; Brain; Chenodeoxycholic Acid; Gastrointestinal Agents; Humans; Image Processing, Computer-Assisted; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Neuroanatomical Tract-Tracing Techniques; Xanthomatosis, Cerebrotendinous	2011
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis. Journal of neurology, 2011, Volume: 258, Issue:5 Topics: Adolescent; Adult; Chenodeoxycholic Acid; Disability Evaluation; Evoked Potentials, Motor; Female; Gastrointestinal Agents; Humans; Male; Middle Aged; Muscle Spasticity; Transcranial Magnetic Stimulation; Xanthomatosis, Cerebrotendinous; Young Adult	2011
Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis. BMC neurology, 2011, May-31, Volume: 11 Topics: Adult; Autonomic Nervous System Diseases; Chenodeoxycholic Acid; Electromyography; Female; Gastrointestinal Agents; Humans; Male; Middle Aged; Mitochondria; Nerve Fibers; Neural Conduction; Neuromuscular Junction Diseases; Skin; Skin Temperature; Xanthomatosis, Cerebrotendinous	2011
Monitoring of 7α-hydroxy-4-cholesten-3-one during therapy of cerebrotendinous xanthomatosis: a case report. Chemistry and physics of lipids, 2011, Volume: 164, Issue:6 Topics: Adult; Blood Chemical Analysis; Blood Component Removal; Chenodeoxycholic Acid; Cholestenones; Follow-Up Studies; Humans; Lipoproteins, LDL; Male; Simvastatin; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2011
Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign. Archives of ophthalmology (Chicago, Ill. : 1960), 2011, Volume: 129, Issue:8 Topics: Cataract; Cataract Extraction; Chenodeoxycholic Acid; Child; Cholestanol; Diarrhea; Female; Humans; Lens Implantation, Intraocular; Male; Visual Acuity; Xanthomatosis, Cerebrotendinous	2011
Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene. European journal of medical genetics, 2012, Volume: 55, Issue:1 Topics: Adult; Amino Acid Substitution; Cataract; Cerebellar Ataxia; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Female; Humans; INDEL Mutation; Intellectual Disability; Male; Middle Aged; Pedigree; Peripheral Nervous System Diseases; Sequence Analysis, DNA; Siblings; Xanthomatosis, Cerebrotendinous	2012
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. Clinical neurology and neurosurgery, 2012, Volume: 114, Issue:7 Topics: Adolescent; Brain; Chenodeoxycholic Acid; Cholagogues and Choleretics; Cholestanetriol 26-Monooxygenase; Cholestanol; DNA; Electroencephalography; Epilepsy; Exons; Female; Humans; Magnetic Resonance Imaging; Mutation; Neurologic Examination; Xanthomatosis, Cerebrotendinous	2012
Clinical reasoning: a case of treatable spastic paraparesis. Neurology, 2012, Aug-07, Volume: 79, Issue:6 Topics: Adult; Anticholesteremic Agents; Chenodeoxycholic Acid; Gastrointestinal Agents; Humans; Male; Paraparesis, Spastic; Simvastatin; Xanthomatosis, Cerebrotendinous	2012
Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. Journal of neurology, 2013, Volume: 260, Issue:1 Topics: Action Potentials; Adolescent; Adult; Aged; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Electromyography; Female; Humans; Logistic Models; Male; Middle Aged; Mutation; Neural Conduction; Neurologic Examination; Neuroprotective Agents; Polyneuropathies; Statistics, Nonparametric; Xanthomatosis, Cerebrotendinous; Young Adult	2013
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013, Volume: 34, Issue:9 Topics: Brain; Chenodeoxycholic Acid; Female; Gastrointestinal Agents; Humans; Magnetic Resonance Imaging; Middle Aged; Neuropsychological Tests; Tomography, Emission-Computed, Single-Photon; Xanthomatosis, Cerebrotendinous	2013
Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment. Calcified tissue international, 2013, Volume: 92, Issue:3 Topics: Absorptiometry, Photon; Adolescent; Adult; Bone Density; Chenodeoxycholic Acid; Cholestanol; Female; Gastrointestinal Agents; Humans; Male; Osteoporosis; Time; Vitamin D; Xanthomatosis, Cerebrotendinous; Young Adult	2013
[Cerebrotendinous xanthomatosis is a rare disorder, which requires a specific treatment]. Ugeskrift for laeger, 2013, Jan-28, Volume: 175, Issue:5 Topics: Adult; Chenodeoxycholic Acid; Delayed Diagnosis; Female; Humans; Hydroxycholesterols; Magnetic Resonance Imaging; Phenotype; Rare Diseases; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2013
[Cerebrotendinous xanthomatosis, a treatable metabolic disorder]. Der Nervenarzt, 2002, Volume: 73, Issue:12 Topics: Adult; Brain; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Chromosome Aberrations; Diagnosis, Differential; Female; Follow-Up Studies; Genes, Recessive; Humans; Magnetic Resonance Imaging; Middle Aged; Neurologic Examination; Steroid Hydroxylases; Treatment Outcome; Triglycerides; Xanthomatosis, Cerebrotendinous	2002
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:6 Topics: Adolescent; Adult; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanols; Cholestasis; Cholic Acid; DNA; Exons; Gas Chromatography-Mass Spectrometry; Hepatitis; Humans; Male; Mutation; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	2002
Enhanced susceptibility of LDL to oxidative modification in a CTX patient:- role of chenodeoxycholic acid in xanthoma formation. Journal of atherosclerosis and thrombosis, 2004, Volume: 11, Issue:3 Topics: Carrier Proteins; Chenodeoxycholic Acid; Cholesterol Ester Transfer Proteins; Cholesterol, LDL; Gastrointestinal Agents; Glycoproteins; Humans; Macrophages; Oxidative Stress; Treatment Outcome; Xanthomatosis; Xanthomatosis, Cerebrotendinous	2004
[Cerebrotendinous xanthomatosis--a treatable metabolic disorder]. Der Nervenarzt, 2004, Volume: 75, Issue:6 Topics: Adult; Brain; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Chromosome Aberrations; Diagnosis, Differential; Female; Follow-Up Studies; Genes, Recessive; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Neurologic Examination; Steroid Hydroxylases; Treatment Outcome; Triglycerides; Xanthomatosis, Cerebrotendinous	2004
Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDL apheresis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2004, Volume: 25, Issue:4 Topics: Blood Component Removal; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Drug Therapy, Combination; Gastrointestinal Agents; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Lipoproteins, LDL; Male; Middle Aged; Reference Values; Simvastatin; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2004
Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis. Journal of lipid research, 2005, Volume: 46, Issue:2 Topics: Adult; Alcohols; ATP Binding Cassette Transporter, Subfamily B, Member 11; ATP-Binding Cassette Transporters; Bile Acids and Salts; Case-Control Studies; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanols; Cholesterol 7-alpha-Hydroxylase; DNA Primers; DNA-Binding Proteins; Female; Gene Expression Regulation; Hepatocyte Nuclear Factor 4; Humans; Liver; Liver X Receptors; Male; Membrane Transport Proteins; Middle Aged; Models, Biological; Organic Anion Transporters, Sodium-Dependent; Orphan Nuclear Receptors; Phosphoproteins; Pregnane X Receptor; Protein Binding; Receptors, Cytoplasmic and Nuclear; Receptors, Steroid; RNA, Messenger; Steroid Hydroxylases; Symporters; Transcription Factors; Up-Regulation; Xanthomatosis, Cerebrotendinous	2005
Isotopomer spectral analysis of intermediates of cholesterol synthesis in patients with cerebrotendinous xanthomatosis. Metabolism: clinical and experimental, 2005, Volume: 54, Issue:3 Topics: Adult; Bile; Bile Acids and Salts; Carbon Isotopes; Chenodeoxycholic Acid; Cholestanol; Cholestanols; Cholesterol; Female; Gas Chromatography-Mass Spectrometry; Humans; Isotope Labeling; Lanosterol; Male; Middle Aged; Pravastatin; Sterols; Xanthomatosis, Cerebrotendinous	2005
Cerebrotendinous xanthomatosis: a treatable ataxia. Neurology, 2005, Apr-26, Volume: 64, Issue:8 Topics: Adult; Cerebellar Ataxia; Cerebellum; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Disease Progression; Electroencephalography; Humans; Magnetic Resonance Imaging; Male; Paraparesis, Spastic; Peripheral Nervous System Diseases; Simvastatin; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2005
Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. Archives of neurology, 2005, Volume: 62, Issue:9 Topics: Arginine; Brain; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cysteine; DNA Mutational Analysis; Family Health; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Molecular Sequence Data; Mutation; Polymorphism, Single-Stranded Conformational; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	2005
Could steroids mask the diagnosis of cerebrotendinous xanthomatosis? Journal of the neurological sciences, 2006, Apr-15, Volume: 243, Issue:1-2 Topics: Achilles Tendon; Adult; Brain; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Diagnosis, Differential; Diagnostic Errors; Disease Progression; Down-Regulation; Humans; Male; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Prednisone; Simvastatin; Steroid Hydroxylases; Steroids; Treatment Outcome; Up-Regulation; Xanthomatosis, Cerebrotendinous	2006
Presenile cataract: consider cholestanol. Archives of ophthalmology (Chicago, Ill. : 1960), 2006, Volume: 124, Issue:10 Topics: Adult; Cataract; Cataract Extraction; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholestanols; DNA Mutational Analysis; Female; Humans; Male; Mutation; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	2006
[Cerebrotendinous xanthomatosis]. Deutsche medizinische Wochenschrift (1946), 2007, Jul-29, Volume: 132, Issue:27 Topics: Adult; Brain; Cataract; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Dementia; Diagnosis, Differential; Female; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Simvastatin; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2007
Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia. The Journal of the Association of Physicians of India, 2007, Volume: 55 Topics: Adult; Ataxia; Chenodeoxycholic Acid; Cholestanol; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Male; Xanthomatosis, Cerebrotendinous	2007
Chronic diarrhoea as a dominating symptom in two children with cerebrotendinous xanthomatosis. Acta paediatrica (Oslo, Norway : 1992), 1996, Volume: 85, Issue:8 Topics: Administration, Oral; Bile Acids and Salts; Chenodeoxycholic Acid; Child; Cholestanol; Cholestanols; Chronic Disease; Diarrhea; Female; Gastrointestinal Agents; Humans; Male; Xanthomatosis, Cerebrotendinous	1996
Treatment and follow-up of children with cerebrotendinous xanthomatosis. European journal of pediatrics, 1998, Volume: 157, Issue:4 Topics: Adolescent; Adult; Chenodeoxycholic Acid; Child; Cholestanol; Cholestanols; Cholesterol; Female; Follow-Up Studies; Humans; Male; Neurologic Examination; Xanthomatosis, Cerebrotendinous	1998
Neuroimages: cerebrotendinous xanthomatosis. Neurology, 2000, Aug-22, Volume: 55, Issue:4 Topics: Chenodeoxycholic Acid; Cholestanol; Cognition Disorders; Female; Gait Ataxia; Humans; Middle Aged; Muscle Spasticity; Reflex, Abnormal; Xanthomatosis, Cerebrotendinous	2000
Chenodeoxycholic treatment of cerebrotendinous xanthomatosis. Neurology, 2001, Mar-13, Volume: 56, Issue:5 Topics: Adult; Chenodeoxycholic Acid; Humans; Male; Xanthomatosis, Cerebrotendinous	2001
Increased formation of ursodeoxycholic acid in patients treated with chenodeoxycholic acid. The Journal of clinical investigation, 1974, Volume: 53, Issue:2 Topics: Bile Acids and Salts; Chenodeoxycholic Acid; Cholelithiasis; Gastrointestinal Agents; Humans; Lithocholic Acid; Molecular Structure; Ursodeoxycholic Acid; Xanthomatosis, Cerebrotendinous	1974
Cerebrotendinous xanthomatosis in three siblings from a Chinese family. Singapore medical journal, 2001, Volume: 42, Issue:1 Topics: Adult; Chenodeoxycholic Acid; China; Cholesterol; Genes, Recessive; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Nuclear Family; Simvastatin; Xanthomatosis, Cerebrotendinous	2001
Cerebrotendinous xanthomatosis. Journal of the American Academy of Dermatology, 2001, Volume: 45, Issue:2 Topics: Chenodeoxycholic Acid; Cholestanols; Cholesterol; Female; Humans; Middle Aged; Skin; Xanthomatosis, Cerebrotendinous	2001
Cerebrotendinous xanthomatosis presenting as "chologenic diarrhoea". Acta paediatrica (Oslo, Norway : 1992), 2001, Volume: 90, Issue:7 Topics: Adolescent; Chenodeoxycholic Acid; Diagnosis, Differential; Diarrhea; Female; Humans; Xanthomatosis, Cerebrotendinous	2001
Cerebrotendinous xanthomatosis. Neurology, 2001, Nov-13, Volume: 57, Issue:9 Topics: Chenodeoxycholic Acid; Gastrointestinal Agents; Humans; Xanthomatosis, Cerebrotendinous	2001