Page last updated: 2024-08-17

cholestanol and Xanthomatosis, Cerebrotendinous

cholestanol has been researched along with Xanthomatosis, Cerebrotendinous in 75 studies

*Xanthomatosis, Cerebrotendinous: An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms. [MeSH]

Research

Studies (75)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	6 (8.00)	18.2507
2000's	29 (38.67)	29.6817
2010's	30 (40.00)	24.3611
2020's	10 (13.33)	2.80

Authors

Authors	Studies
Hoshino, T; Nagata, S; Tominaga, M; Zaizen, Y	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
Del Monte, MA; Diva, U; Donahue, SP; Drack, AV; Dutta, R; Freedman, SF; Fung, SSM; Imperiale, M; Jordan, CO; Lenhart, PD; Lim, ME; McCourt, EA; Miraldi Utz, VA; Nihalani, BR; Sabahi, T; Stahl, ED; VanderVeen, DK; Wilson, ME; Yen, KG	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
Boscia, A; Corso, G; Dello Russo, A; Di Taranto, MD; Fortunato, G; Gelzo, M; Papagni, F; Sica, C	1
Koyama, S; Mochizuki, Y; Morizumi, T; Nakamura, K; Sekijima, Y; Takasone, K; Yoshinaga, T	1
Kentgens, A; Tijssen, K; van Meerten, S; van Zelst, F	1
DeBarber, AE; Duell, PB	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
Dotti, MT; Elibol, B; Falik-Zaccai, TC; Federico, A; Hanman, K; Mignarri, A; Mochel, F; Sithole, B; Steiner, RD; Stelten, BML; Verma, S; Verrips, A; Yahalom, G; Zubarioglu, T	1
Alhariri, A; Cordoro, K; Hamilton, K; Malloy, M; Oza, V; Slavotinek, A; Sobreira, NL	1
Cai, YH; Chen, C; Ding, ZT; Gong, LY; Sun, YM; Wang, J; Wu, H; Wu, JJ; Zhang, Y	1
Bonnot, O; Huidekoper, HH; Kluijtmans, LAJ; Stelten, BML; van Hasselt, PM; van Spronsen, FJ; Verrips, A; Wevers, RA	1
DeBarber, AE; Duell, PB; Loh, AR; Tibrewal, S	1
Amador, MDM; Debs, R; Degos, B; Lamari, F; Masingue, M; Mochel, F; Perlbarg, V; Roze, E	1
Bados Enríquez, DM; Baquero Marín, PJ; Jaramillo Toro, C	1
Brilstra, EH; Haak, HR; Hollak, CEM; Huidekoper, HH; Kluijtmans, LAJ; Stelten, BML; van de Warrenburg, BPC; Verrips, A; Wevers, RA	1
Elibol, B; Gocmen, R; Mutlu, D; Saygı, S; Tuncer, A; Yalcin-Cakmakli, G	1
Jun, SH; Lee, JH; Lee, K; Shin, CH; Song, J; Song, SH	1
Besson, G; Castelnovo, G; Chaussenot, A; Curot, J; Douillard, C; Duval, F; Giral, P; Lamari, F; Lecerf, JM; Mandia, D; Nadjar, Y; Pierdet, H; Roland, D	1
Distrutti, E; Fiorucci, S	1
Björkhem, I	1
Dotti, MT; Federico, A; Gallus, GN; Mignarri, A	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
Ikeda, S; Kato, T; Koyama, S; Maruyama, K; Sekijima, Y; Yoshida, T; Yoshinaga, T	1
Björkhem, I; Del Puppo, M; Dotti, MT; Federico, A; Gallus, GN; Magni, A; Mignarri, A	1
Appadurai, V; Bonnen, PE; Chiang, PW; DeBarber, A; Patel, SB; Steiner, RD; Tyler, C	1
Hayashi, S; Kira, JI; Koge, J; Murai, H; Tateishi, T; Yamaguchi, H	1
Kato, T; Koyama, S	1
Berger, R; de Barse, M; de Sain-van der Velden, MG; Prinsen, BH; Verrips, A; Visser, G	1
Björkhem, I; Hansson, M	1
Båvner, A; Björkhem, I; Hansson, M; Leitersdorf, E; Meiner, V; Olin, M; Shafaati, M; Shpitzen, S	1
Barrero, F; Díaz, M; Girós, M; Jiménez-Escrig, A; Lustres, M; Macarrón, J; Pilo de la Fuente, B; Pozo, L; Sobrido, MJ	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
Del Puppo, M; Dotti, MT; Federico, A; Gallus, GN; Ginanneschi, F; Giorgi, S; Mignarri, A; Mondelli, M; Rossi, A	1
Del Puppo, M; Dotti, MT; Federico, A; Franci, B; Martini, G; Mignarri, A; Nuti, R; Ruvio, M; Valenti, R	1
Björkhem, I; Diczfalusy, U; Movin, T; Papadogiannakis, N; Pikuleva, I; Rönnow, P; von Bahr, S	1
Grau, AJ; Heller, R; Schäbitz, WR; Schwaninger, M	1
Campdelacreu, J; Cervera, A; Girós, M; Jaumà, S; Muñoz, E; Tolosa, E	1
Seyama, Y	1
Arai, H; Hattori, T; Ito, S; Kuwabara, S; Oda, S; Oki, T; Sakakibara, R	1
Bartholdi, D; Hess, K; Jung, HH; Sistermans, E; Verrips, A; Wevers, RA; Zumsteg, D	1
Moghadasian, MH	1
Matschke, J; Sperhake, JP	1
Dotti, MT; Federico, A; Lütjohann, D; von Bergmann, K	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
Gadoth, N; Meiner, V; Siman-Tov, T	1
Bhattacharyya, AK; Connor, WE; Lin, DS	1
Kellermayer, R; Kosztolányi, G; Morava, E; Pfund, Z; Sistermans, E; Tészás, A; Wevers, RA	1
Andersson, U; Björkhem, I; Hansson, M; Meaney, S; Panzenboeck, U; Sattler, W	1
Björkhem, I; Eggertsen, G; Floren, CH; Hansson, M; Meaney, S; Olin, M; van't Hooft, F; von Bahr, S	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
Cardaioli, E; Da Pozzo, P; Dotti, MT; Federico, A; Gallus, GN; Patiño, ME; Rufa, A; Schenone, A; Sfaelo, Z; Szlago, M	1
Ichikawa, Y; Okuyama, E; Takeuchi, H; Tomita, S	1
Cruysberg, JR; Renier, WO; Tangerman, A; Tolboom, JJ; van Heijst, AF; Wevers, RA	1
Cruysberg, JR; Renier, WO; Tolboom, JJ; van Heijst, AF; Verrips, A; Wevers, RA	1
Kinoshita, M; Teramoto, T	1
Kawabata, M; Kuriyama, M; Mori, S; Osame, M; Sakashita, I	1
Inoue, K; Kubota, S; Seyama, Y	2
Cruysberg, JR; Gabreëls, FJ; Keyser, A; van den Heuvel, LP; van Engelen, BG; van Geel, BM; Verrips, A; Wevers, RA	1
Björkhem, I; Leitersdorf, E	1
Elisaf, M; Halperin, G; Harats, D; Leitersdorf, E	1
Biller, J; Fleck, JD; Mathews, VP	1
Brown, AJ; Burnett, JR; Croft, KD; Grainger, K; Leitersdorf, E; Moses, EA; Vasikaran, SD; Watts, GF	1
Dotti, MT; Federico, A; Mondelli, M; Scarpini, C; Sicurelli, F	1
Calandra, S; Garuti, R; Lamon-Fava, S; Salen, G; Schaefer, EJ	1

Reviews

12 review(s) available for cholestanol and Xanthomatosis, Cerebrotendinous

Article	Year
Update on cerebrotendinous xanthomatosis. Current opinion in lipidology, 2021, 04-01, Volume: 32, Issue:2 Topics: Bile Acids and Salts; Child; Cholestanol; Delayed Diagnosis; Humans; Infant, Newborn; Neonatal Screening; Phenotype; Xanthomatosis, Cerebrotendinous	2021
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
Cerebrotendinous xanthomatosis. Current opinion in lipidology, 2013, Volume: 24, Issue:4 Topics: Amyotrophic Lateral Sclerosis; Animals; Brain; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Genetic Predisposition to Disease; Humans; Lipid Metabolism; Tendons; Xanthomatosis, Cerebrotendinous	2013
[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
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: an inborn error in bile acid synthesis with defined mutations but still a challenge. Biochemical and biophysical research communications, 2010, May-21, Volume: 396, Issue:1 Topics: Animals; Bile Acids and Salts; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholestenones; Cholesterol 7-alpha-Hydroxylase; Disease Models, Animal; Mice; Mutation; Xanthomatosis, Cerebrotendinous	2010
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
Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clinical and investigative medicine. Medecine clinique et experimentale, 2004, Volume: 27, Issue:1 Topics: Bile Acids and Salts; Cataract; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Codon; Databases as Topic; Diagnosis, Differential; Genotype; Humans; Liver; MEDLINE; Mutation; Nervous System Diseases; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	2004
[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
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Archives of neurology, 2000, Volume: 57, Issue:4 Topics: Adolescent; Adult; Age of Onset; Child; Cholestanol; Cholestanols; Comorbidity; Diagnosis, Differential; Diarrhea; Female; Genes, Recessive; Humans; Male; Middle Aged; Predictive Value of Tests; Retrospective Studies; Xanthomatosis; Xanthomatosis, Cerebrotendinous	2000
Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans. Trends in endocrinology and metabolism: TEM, 2000, Volume: 11, Issue:5 Topics: Animals; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Cytochrome P-450 Enzyme System; Disease Models, Animal; Humans; Metabolism, Inborn Errors; Mutation; Reference Values; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	2000
[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

3 trial(s) available for cholestanol and Xanthomatosis, Cerebrotendinous

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
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
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

60 other study(ies) available for cholestanol and Xanthomatosis, Cerebrotendinous

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
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
Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2023, Volume: 27, Issue:4 Topics: Adolescent; Adult; Bile Acids and Salts; Cataract; Child; Child, Preschool; Cholestanol; Humans; Prevalence; Xanthomatosis, Cerebrotendinous; Young Adult	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
Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study. Lipids in health and disease, 2019, Dec-30, Volume: 18, Issue:1 Topics: Adult; Age Factors; Child; Cholestanol; Cholesterol; Disease Progression; Early Diagnosis; Female; Humans; Infant, Newborn; Male; Oxidoreductases Acting on CH-CH Group Donors; Phytosterols; Steroid Metabolism, Inborn Errors; 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
An Optimized NMR Stripline for Sensitive Supercritical Fluid Chromatography-Nuclear Magnetic Resonance of Microliter Sample Volumes. Analytical chemistry, 2020, 10-06, Volume: 92, Issue:19 Topics: Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Chromatography, Supercritical Fluid; Humans; Magnetic Resonance Spectroscopy; 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
Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study. Orphanet journal of rare diseases, 2021, 08-06, Volume: 16, Issue:1 Topics: Cholestanol; Delayed Diagnosis; Delphi Technique; Expert Testimony; Humans; Infant, Newborn; 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
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. Metabolic brain disease, 2017, Volume: 32, Issue:5 Topics: Adult; Age of Onset; Asian People; Cerebellar Ataxia; Cholestanetriol 26-Monooxygenase; Cholestanol; Cognition Disorders; Disease Progression; Female; Genetic Testing; Humans; Male; Middle Aged; Mutation; Paraparesis, Spastic; Pedigree; Polymerase Chain Reaction; Xanthomatosis; 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
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
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: The diagnostic challenge. Medicina clinica, 2019, 02-01, Volume: 152, Issue:3 Topics: Antidepressive Agents; Antipsychotic Agents; Anxiety Disorders; Cholestanetriol 26-Monooxygenase; Cholestanol; Chromosomes, Human, Pair 2; Cognition Disorders; Hallucinations; Humans; Loss of Heterozygosity; Male; Middle Aged; Mood Disorders; Neuropsychological Tests; Oligonucleotide Array Sequence Analysis; Psychotherapy; Sequence Deletion; Xanthomatosis, Cerebrotendinous	2019
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start. Neurology, 2019, 01-08, Volume: 92, Issue:2 Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Cholestanetriol 26-Monooxygenase; Cholestanol; Cohort Studies; Disability Evaluation; Disease Management; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mutation; Nervous System Diseases; Time Factors; Treatment Outcome; Xanthomatosis, Cerebrotendinous; Young Adult	2019
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
A Multiplex Phytosterol Assay Utilizing Gas Chromatography-Mass Spectrometry for Diagnosis of Inherited Lipid Storage Disorders. Annals of laboratory medicine, 2019, Volume: 39, Issue:4 Topics: Cholestanol; Cholesterol; Gas Chromatography-Mass Spectrometry; Humans; Hypercholesterolemia; Intestinal Diseases; Limit of Detection; Lipid Metabolism, Inborn Errors; Phytosterols; Reference Standards; Sitosterols; Xanthomatosis, Cerebrotendinous	2019
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults. Journal of neurology, 2019, Volume: 266, Issue:8 Topics: Adult; Cholestanol; Cholesterol; Cholic Acid; Female; Humans; Male; Middle Aged; Retrospective Studies; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2019
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. Journal of inherited metabolic disease, 2014, Volume: 37, Issue:3 Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Cholestanetriol 26-Monooxygenase; Cholestanol; Early Diagnosis; Female; Humans; Infant; Male; Middle Aged; 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
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
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
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
A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1. Rinsho shinkeigaku = Clinical neurology, 2016, 10-28, Volume: 56, Issue:10 Topics: Adult; Biomarkers; Brain; Cholestanetriol 26-Monooxygenase; Cholestanol; Diagnosis, Differential; Frameshift Mutation; Humans; Magnetic Resonance Imaging; Male; MERRF Syndrome; Mitochondria; Phenotype; Xanthomatosis, Cerebrotendinous	2016
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
On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase. Journal of lipid research, 2010, Volume: 51, Issue:9 Topics: Animals; Brain; Brain Chemistry; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholestenones; Cholestyramine Resin; Cholic Acid; Female; Humans; Liver; Male; Mice; Mice, Knockout; Molecular Structure; Tendons; Xanthomatosis, Cerebrotendinous	2010
[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]. Neurologia (Barcelona, Spain), 2011, Volume: 26, Issue:7 Topics: Adolescent; Adult; Age of Onset; Child; Cholestanol; Disease Progression; Humans; Male; Prognosis; Retrospective Studies; Severity of Illness Index; Xanthomatosis, Cerebrotendinous; Young Adult	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
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
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
Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1). Arteriosclerosis, thrombosis, and vascular biology, 2002, Jul-01, Volume: 22, Issue:7 Topics: Adult; Alcoholism; Arteriosclerosis; Blotting, Western; Cells, Cultured; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Cytochrome P-450 Enzyme System; Diabetes Complications; Diabetes Mellitus; Female; Gas Chromatography-Mass Spectrometry; Humans; Hydroxycholesterols; Macrophages, Alveolar; Male; Middle Aged; Steroid Hydroxylases; Substrate Specificity; Xanthomatosis, Cerebrotendinous	2002
[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
[Cerebrotendinous xanthomatosis without tendinous xanthomas: presentation of two cases]. Neurologia (Barcelona, Spain), 2002, Volume: 17, Issue:10 Topics: Adolescent; Adult; Brain; Child; Cholestanol; Disease Progression; Female; Humans; Magnetic Resonance Imaging; Male; Radiography; Spinal Cord; Xanthomatosis, Cerebrotendinous	2002
Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis. Journal of neurology, 2004, Volume: 251, Issue:1 Topics: Age of Onset; Alanine; Bile Acids and Salts; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Diagnosis, Differential; Diagnostic Errors; Diarrhea; DNA Mutational Analysis; Family Health; Female; Heterozygote; Humans; Magnetic Resonance Imaging; Middle Aged; Muscular Atrophy, Spinal; Mutation; Phenotype; Proline; Steroid Hydroxylases; 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
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
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
Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition. Journal of lipid research, 2007, Volume: 48, Issue:1 Topics: Carbon Radioisotopes; Cholestanol; Cholesterol; Erythrocytes; Half-Life; Humans; Intestinal Absorption; Reference Values; Tissue Distribution; Xanthomatosis, Cerebrotendinous	2007
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
On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis. Journal of lipid research, 2007, Volume: 48, Issue:5 Topics: Animals; Brain; Cell Differentiation; Cells, Cultured; Cholestanol; Endothelial Cells; Humans; Macrophages; Molecular Structure; Neuroglia; Neurons; Swine; Xanthomatosis, Cerebrotendinous	2007
Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase. Journal of internal medicine, 2007, Volume: 261, Issue:5 Topics: Adult; Base Sequence; Cells, Cultured; Cholestanetriol 26-Monooxygenase; Cholestanol; Exons; Female; Humans; Hydroxycholesterols; Mutation; Pedigree; RNA, Messenger; Xanthomatosis, Cerebrotendinous	2007
[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
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. Neurology, 2008, Jan-29, Volume: 70, Issue:5 Topics: Adolescent; Argentina; Brain; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; DNA Mutational Analysis; Female; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Mitochondria; Mutation; Tremor; Xanthomatosis, Cerebrotendinous	2008
A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family. Journal of lipid research, 1996, Volume: 37, Issue:3 Topics: Alleles; Amino Acid Sequence; Base Sequence; Cholestanetriol 26-Monooxygenase; Cholestanol; Cytochrome P-450 Enzyme System; Exons; Female; Genotype; Heterozygote; Humans; Japan; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sequence Analysis; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	1996
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
Pulmonary manifestations in cerebrotendinous xanthomatosis. Internal medicine (Tokyo, Japan), 1998, Volume: 37, Issue:11 Topics: Adult; Biopsy; Bronchoalveolar Lavage Fluid; Cholestanol; Cholesterol; Chromatography, High Pressure Liquid; Diagnosis, Differential; Humans; Lung Diseases; Macrophages, Alveolar; Male; Middle Aged; Pulmonary Alveoli; Radiography, Thoracic; Respiratory Function Tests; Tomography, X-Ray Computed; Xanthomatosis, Cerebrotendinous	1998
Cholestanol induces apoptosis of cerebellar neuronal cells. Biochemical and biophysical research communications, 1999, Mar-05, Volume: 256, Issue:1 Topics: Animals; Apoptosis; Body Weight; Caspase 1; Caspase 3; Caspases; Cell Survival; Cells, Cultured; Cerebellum; Cholestanol; Cholesterol, Dietary; Coculture Techniques; In Situ Nick-End Labeling; Lens, Crystalline; Liver; Male; Neurons; Purkinje Cells; Rats; Rats, Wistar; Sterols; Xanthomatosis, Cerebrotendinous	1999
A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. Journal of chromatography. B, Biomedical sciences and applications, 2000, Jun-09, Volume: 742, Issue:2 Topics: Adult; Aged; Case-Control Studies; Cholestanol; Chromatography, High Pressure Liquid; Female; Humans; Liver Cirrhosis; Male; Middle Aged; Reference Standards; Reproducibility of Results; Sensitivity and Specificity; Spectrophotometry, Ultraviolet; Xanthomatosis, Cerebrotendinous	2000
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
Clinical and biochemical features, molecular diagnosis and long-term management of a case of cerebrotendinous xanthomatosis. Clinica chimica acta; international journal of clinical chemistry, 2001, Volume: 306, Issue:1-2 Topics: Achilles Tendon; Adult; Cholestanol; Cholesterol; Female; Humans; Introns; Lipid Metabolism; Lipids; Simvastatin; Xanthomatosis, Cerebrotendinous	2001
Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. Clinical genetics, 2002, Volume: 61, Issue:3 Topics: Amino Acid Substitution; Bile; Bile Acids and Salts; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholestanols; Cholesterol; Female; Humans; Middle Aged; Mutation; Mutation, Missense; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	2002