Research & Literature

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

Huidekoper HH, Vaz FM, Verrips A, Bosch AM

European journal of pediatrics 2016; (175(1)):143-6 doi:10.1007/s00431-015-2584-7.

Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report.

Ragno M, Di Marzio F, Fuccio C, et al.

Clinical neurology and neurosurgery 2015; (139()):221-3.

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.

Appadurai V, DeBarber A, Chiang PW, et al.

Molecular genetics and metabolism 2015; (116(4)):298-304.

Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia.

Giraldo-Chica M, Acosta-Baena N, Urbano L, et al.

Biomedica : revista del Instituto Nacional de Salud 2015; (35(4)):563-71.

Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.

Varman KM, Dunbar K, Usifo K, Stevens CA

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2016; (22(2)):92-3 doi:10.1097/RHU.0000000000000367.

Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

Razi SM, Gupta AK, Gupta DC, et al.

Journal of medical case reports 2016; (10(1)):103 doi:10.1186/s13256-016-0882-y.

Bilateral Xanthomas of Tendoachilles in A Patient of Cerebrotendinous Xanthomatosis - A Rare Case Report and Review of Literature.

Sastri V, Ravindranath VS, Metikala S, Kumar M

Journal of orthopaedic case reports 2014; (4(4)):40-3 doi:10.13107/jocr.2250-0685.223.

Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.

Bleyle L, Huidekoper HH, Vaz FM, et al.

Molecular genetics and metabolism reports 2016; (7()):11-5 doi:10.1016/j.ymgmr.2016.02.002.

[Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom].

Zhang L, Zhang L, Nian N, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016; (33(4)):476-80 doi:10.3760/cma.j.issn.1003-9406.2016.04.010.

An unusual cause of Achilles tendon xanthoma.

Parente F, Vesnaver M, Massie R, Baass A

Journal of clinical lipidology 2016; (10(4)):1040-1044 doi:10.1016/j.jacl.2016.05.001.

Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.

Gong JY, Setchell KDR, Zhao J, et al.

Journal of pediatric gastroenterology and nutrition 2017; (65(5)):561-568 doi:10.1097/MPG.0000000000001730.

Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts.

Tibrewal S, Duell PB, DeBarber AE, Loh AR

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2017; (21(6)):505-507 doi:10.1016/j.jaapos.2017.07.211.

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Catarino CB, Vollmar C, Küpper C, et al.

Journal of neurology 2018; (265(2)):388-393 doi:10.1007/s00415-017-8711-9.

Nationwide survey on cerebrotendinous xanthomatosis in Japan.

Sekijima Y, Koyama S, Yoshinaga T, et al.

Journal of human genetics 2018; (63(3)):271-280 doi:10.1038/s10038-017-0389-4.

Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline.

Nambirajan A, Sashidharan A, Garg A, et al.

Cytopathology : official journal of the British Society for Clinical Cytology 2018; (29(5)):482-485 doi:10.1111/cyt.12573.

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.

Duell PB, Salen G, Eichler FS, et al.

Journal of clinical lipidology 2018; (12(5)):1169-1178 doi:10.1016/j.jacl.2018.06.008.

Movement disorders in cerebrotendinous xanthomatosis.

Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A

Parkinsonism & related disorders 2019; (58()):12-16 doi:10.1016/j.parkreldis.2018.07.006.

Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider.

Raymond GV, Schiffmann R

Neurology 2019; (92(2)):61-62 doi:10.1212/WNL.0000000000006721.

Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis.

Mutlu D, Tuncer A, Gocmen R, et al.

Neurology 2019; (92(9)):438-439 doi:10.1212/WNL.0000000000007015.

Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.

Mandia D, Chaussenot A, Besson G, et al.

Journal of neurology 2019; (266(8)):2043-2050 doi:10.1007/s00415-019-09377-y.

Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts.

Freedman SF, Brennand C, Chiang J, et al.

JAMA ophthalmology 2019; (137(11)):1312-1316 doi:10.1001/jamaophthalmol.2019.3639.

A Preventable Ataxia: Cerebrotendinous Xanthomatosis.

Shaji B, Srikumar B, Ramachandran D

Annals of Indian Academy of Neurology 2019; (22(4)):493-496 doi:10.4103/aian.AIAN_126_18.

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies.

Verrips A, Dotti MT, Mignarri A, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(4)):943-949 doi:10.1007/s10072-019-04169-8.

A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.

Gelzo M, Di Taranto MD, Bisecco A, et al.

Acta neurologica Belgica 2021; (121(2)):561-566 doi:10.1007/s13760-019-01267-4.

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Yunisova G, Tufekcioglu Z, Dogu O, et al.

Neuro-degenerative diseases 2019; (19(5-6)):218-224 doi:10.1159/000506770.

Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.

Hong X, Daiker J, Sadilek M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(10)):1606-1612 doi:10.1038/s41436-020-0846-x.

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.

Cao LX, Yang M, Liu Y, et al.

World journal of clinical cases 2020; (8(21)):5446-5456 doi:10.12998/wjcc.v8.i21.5446.

Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature.

Lipiński P, Klaudel-Dreszler M, Ciara E, et al.

Frontiers in pediatrics 2020; (8()):616582 doi:10.3389/fped.2020.616582.

Update on cerebrotendinous xanthomatosis.

DeBarber AE, Duell PB

Current opinion in lipidology 2021; (32(2)):123-131 doi:10.1097/MOL.0000000000000740.

Spinal cerebrotendinous xanthomatosis: A case report and literature review.

Atallah I, Millán DS, Benoît W, et al.

Molecular genetics and metabolism reports 2021; (26()):100719 doi:10.1016/j.ymgmr.2021.100719.

Expanding the clinical spectrum of cerebrotendinous xanthomatosis: Implications for newborn screening, follow-up and treatment.

Hollak CEM

Journal of internal medicine 2021; (290(5)):942-943 doi:10.1111/joim.13276.

Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.

Höflinger P, Hauser S, Yutuc E, et al.

Journal of lipid research 2021; (62()):100078 doi:10.1016/j.jlr.2021.100078.

Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.

Koyama S, Sekijima Y, Ogura M, et al.

Journal of atherosclerosis and thrombosis 2021; (28(9)):905-925 doi:10.5551/jat.RV17055.

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.

Guenzel AJ, DeBarber A, Raymond K, Dhamija R

JIMD reports 2021; (59(1)):3-9 doi:10.1002/jmd2.12197.

Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report.

Ahmed Ghassem M, Mounach A, H Djossou J, et al.

Case reports in rheumatology 2021; (2021()):6656584 doi:10.1155/2021/6656584.

Using fiber tractography and diffusion kurtosis imaging to evaluate neuroimaging changes in patients with cerebrotendinous xanthomatosis after stopping chenodeoxycholic acid treatment for three years.

Lee JJ, Chang CC, Chang WN

Biomedical journal 2022; (45(5)):814-820 doi:10.1016/j.bj.2021.09.003.

Patents vs patients 1-0: The case of chenodeoxycholic acid.

Briké SM, Meersseman W, Cassiman D

Journal of inherited metabolic disease 2022; (45(2)):377-378 doi:10.1002/jimd.12443.

Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey.

Atilla H, Coskun T, Elibol B, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2021; (25(5)):269.e1-269.e6 doi:10.1016/j.jaapos.2021.04.015.

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.

Koyama S, Okabe Y, Suzuki Y, et al.

BMC neurology 2022; (22(1)):193 doi:10.1186/s12883-022-02711-4.

Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.

Pietrobattista A, Spada M, Candusso M, et al.

Pediatric transplantation 2022; (26(6)):e14318 doi:10.1111/petr.14318.

Long-term MRI Findings in Patients With Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid.

Stelten BML, Lycklama À Nijeholt GJ, Hendriks E, et al.

Neurology 2022; (99(13)):559-566 doi:10.1212/WNL.0000000000201112.

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

Bonnet JB, Couvert P, Di-Filippo M, et al.

Journal of internal medicine 2023; (293(1)):121-123 doi:10.1111/joim.13568.

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report.

Chang YY, Yu CQ, Zhu L

World journal of clinical cases 2022; (10(29)):10681-10688 doi:10.12998/wjcc.v10.i29.10681.

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.

Fernández-Eulate G, Martin GC, Dureau P, et al.

Orphanet journal of rare diseases 2022; (17(1)):434 doi:10.1186/s13023-022-02591-4.

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.

Vaz FM, Jamal Y, Barto R, et al.

Clinica chimica acta; international journal of clinical chemistry 2023; (539()):170-174 doi:10.1016/j.cca.2022.12.011.

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

Pramparo T, Steiner RD, Rodems S, Jenkinson C

Orphanet journal of rare diseases 2023; (18(1)):13 doi:10.1186/s13023-022-02578-1.

Clinical, electrophysiological, and genetic characteristics of cerebrotendinous xanthomatosis in South Korea.

Kim S, Park JS, Lee JH, et al.

Neurocase 2022; (28(6)):477-482 doi:10.1080/13554794.2023.2176777.

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia.

Chun MY, Heo NJ, Seo SW, et al.

Frontiers in neurology 2023; (14()):1131888 doi:10.3389/fneur.2023.1131888.

Early diagnosis for cerebrotendinous xanthomatosis with juvenile cataract and family history.

Öncel Acır N, Taskiran Kandeger B

Ophthalmic genetics 2023; (44(4)):361-365 doi:10.1080/13816810.2023.2197492.

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review.

Ribeiro RM, Vasconcelos SC, Lima PLGSB, et al.

Brain sciences 2023; (13(7)) doi:10.3390/brainsci13070979.

Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives.

Steiner RD, DeBarber A, Larson A, et al.

Advances in therapy 2024; (41(2)):467-475 doi:10.1007/s12325-023-02687-8.

Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings.

Tama Viteri FA, Cotán Marín D, Sánchez FAT, Sánchez MAT

The International journal of neuroscience 2025; (135(3)):358-366 doi:10.1080/00207454.2023.2300735.

Cerebrotendinous Xanthomatosis, a Treatable Disorder Often Missed: Case Series of Three Patients Confirmed by Genetic Testing.

Yaqoob A, Dar WR, Raina A, et al.

Neurology India 2024; (72(1)):138-141 doi:10.4103/ni.ni_1093_21.

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.

Katragadda P, Holla VV, Kamble N, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2024; (14()):10 doi:10.5334/tohm.851.

Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols.

DeBarber AE, Schaefer EJ, Do J, et al.

Journal of clinical lipidology 2024; (18(3)):e465-e476 doi:10.1016/j.jacl.2024.03.004.

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Zubarioglu T, Kıykım E, Köse E, et al.

Molecular genetics and metabolism 2024; (142(2)):108493 doi:10.1016/j.ymgme.2024.108493.

Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study.

Salardaine Q, Shor N, Villain N, et al.

Journal of inherited metabolic disease 2024; (47(5)):1069-1079 doi:10.1002/jimd.12765.

Rare genetic cerebrotendinous xanthomatosis (CTX) cases without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas.

Alves RJ, Nunes VS, Junior NCDCB, et al.

Journal of clinical lipidology 2024; (18(4)):e631-e635 doi:10.1016/j.jacl.2024.04.128.

Case report: Cerebrotendinous xanthomatosis treatment follow-up.

Ejsmont-Sowała K, Książek T, Maciorowska-Rosłan K, et al.

Frontiers in neurology 2024; (15()):1409138 doi:10.3389/fneur.2024.1409138.

Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.

Hanson J, Bonnen PE

Molecular genetics and metabolism 2025; (144(3)):109041 doi:10.1016/j.ymgme.2025.109041.

Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice.

Kim J, Hong YJ, Lee SB, et al.

Frontiers in psychiatry 2025; (16()):1528204 doi:10.3389/fpsyt.2025.1528204.

Juvenile Cataract and Chronic Diarrhea: A Single Etiology.

Risto MI, Sobrosa P, Vilela M, Sousa L

Cureus 2025; (17(2)):e79760 doi:10.7759/cureus.79760.

Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover phase-3 study.

Kisanuki YY, Nobrega PR, Himes R, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(7)):101449 doi:10.1016/j.gim.2025.101449.

Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings.

Khan HG, Raj G, Yadav E, et al.

Radiology case reports 2025; (20(9)):4347-4351 doi:10.1016/j.radcr.2025.05.040.

Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy.

Pasternack G, Courtney J, Kalsi G

Orphanet journal of rare diseases 2025; (20(1)):387 doi:10.1186/s13023-025-03889-9.

Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study.

Karadag M, Turan MI, Celebi C, Caglar T

Molecular syndromology 2025; (16(4)):354-365 doi:10.1159/000542453.

A Novel Compound Heterozygous CYP27A1 Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family.

Cesur Baltacı HN, Sağlam Ada B, Yürür Kutlay N, et al.

Molecular syndromology 2026; (17(2)):160-168 doi:10.1159/000547016.

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy.

Jalal L, Basaria AAA, Yokolo H

Health science reports 2025; (8(12)):e71549 doi:10.1002/hsr2.71549.