Xantomatose cerebrotendinosa

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

NCT05368038

INSCRIÇÃO POR CONVITE

Cerebrotendinous Xanthomatosis (CTX) Prevalence Study

NCT02638220

CONCLUÍDO

An Observational Study for Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease

NCT04113083

DESCONHECIDO

A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX)

NCT04218006

DESCONHECIDO

The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey

NCT03584893

DESCONHECIDO

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NCT05368038 · ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newbor…Por convite

Outros ensaios clínicos

17 ensaios clínicos encontrados, 1 ativos.

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NCT02638220 · Cerebrotendinous Xanthomatosis (CTX) Prevalence StudyConcluído

NCT04113083 · An Observational Study for Evaluation of for the Prevalence …Encerrado

NCT04218006 · A Study on the Prevalence of Mutation of Cerebrotendinous Xa…UNKNOWN

NCT03584893 · The Prevalence of CTX Disorder in Juvenile Cataract Cases in…UNKNOWN

NCT00018694 · Cholestanol in HumansCancelado

NA

NCT01613898 · Evaluation of Carotid IMT and Atherogenic Risk Factors in Pa…UNKNOWN

NCT00004346 · Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lo…UNKNOWN

PHASE2

Ver todos no ClinicalTrials.gov

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Publicações mais relevantes

📖Melhor nível de evidência: Revisão

Timeline de publicações

316 papers (10 anos)

#1

Limited sample stability of chenodeoxycholic acid in pharmaceutical quality control.

European journal of hospital pharmacy : science and practice2026 Mar 23

The Amsterdam UMC makes chenodeoxycholic acid (CDCA) capsules to treat their patients with the rare metabolic disease cerebrotendinous xanthomatosis. During routine quality control analysis of the CDCA active pharmaceutical ingredient according to the European Pharmacopoeia (PhEur), an unknown impurity was found in the test results for related substances. After re-analysis using a fresh sample solution, the impurity was not detected, and it was hypothesised that the impurity was caused by sample instability. Sample stability was investigated using the PhEur high pressure liquid chromatography with refractive index detection (HPLC-RI) test for related substances on different CDCA sample solutions (dissolved in methanol R) stored for 0, 1, 3 and 7 days at 5°C and 25°C. An unknown impurity appeared when stored for 1 day and its concentration increased over time and at a higher temperature, conforming sample instability. It is recommended to perform the test on related substances of CDCA with a fresh sample solution.

#2

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.

Metabolic brain disease2026 Mar 18

Cerebrotendinous xanthomatosis (CTX) is a rare, treatable bile acid synthesis disorder characterized by increased levels of cholestanol. Studies indicate that autism spectrum disorder (ASD) may be an early manifestation of CTX. Independent of CTX, disturbances in sterol and bile acid metabolism are observed in ASD. Therefore, this study aimed to estimate the prevalence of CTX in a pediatric ASD cohort using cholestanol-based screening with reflex CYP27A1 sequencing and to compare plasma sterol profiles among children with ASD. We conducted a single-center, cross-sectional study including 103 patients with ASD and 70 age-matched, normally developed children. Fasting plasma cholestanol, campesterol, stigmasterol and sitosterol were quantified by gas chromatography/mass spectrometry. Participants with cholestanol ≥ 7 µg/ml underwent CYP27A1 sequencing, and five-day dietary recalls were analyzed in 75 ASD participants. Elevated cholestanol was observed in 27 of 103 patients with ASD (26.2%) but in none of the controls (p < 0.001). No participant had biallelic pathogenic CYP27A1 variants; one heterozygous variant of uncertain significance was detected. Median concentrations of cholestanol, campesterol, sitosterol and stigmasterol were significantly higher in patients with ASD than in controls (all p ≤ 0.001), and sterol fractions were strongly correlated (cholestanol–campesterol r = 0.74, p < 0.001). In summary, no cases of CTX were identified in this cohort, suggesting that cholestanol-based screening in unselected ASD populations may have limited yield, particularly in the absence of additional clinical features suggestive of CTX. Nevertheless, the elevated plasma sterol levels in ASD patients suggest dysregulated sterol and bile acid homeostasis, warranting further investigation. The online version contains supplementary material available at 10.1007/s11011-026-01827-7.

#3

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis.

Journal of inherited metabolic disease2026 Mar

Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients. This study reports the safety of pharmacy compounded CDCA through pharmacovigilance monitoring and assesses its effectiveness by evaluating biochemical outcome measures, both in patients who were previously treated with authorized CDCA and subsequently switched to the compounded formulation and in new patients. Data were generated during routine patient care and collected retrospectively. Adverse events were reported by 45% of the patients; the most reported adverse events were diarrhea (16%), constipation (7%), and fatigue (7%). Biochemically, plasma cholestanol levels and urinary bile alcohol levels remained normalized before and after switching from the authorized product to pharmacy compounded capsules. It can be concluded that the pharmacy compounded CDCA capsules are well tolerated by patients with CTX and that the desired biochemical effect was maintained, supporting the use of a compounded formulation when the authorized product is unavailable.

#4

Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX.

Orphanet journal of rare diseases2026 Jan 30

Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder caused by variants in CYP27A1 leading to loss of sterol-27-hydroxylase activity. Sterol-27-hydroxylase generates two classes of bioactive signaling molecules: bile acids and oxysterols. The broader metabolic consequences resulting from perturbations in bile acid and oxysterol signaling and their reversibility with FDA-approved treatment chenodeoxycholic acid (CDCA), are not fully described. To establish a comprehensive map of metabolic consequences of CTX, we performed large-scale, untargeted plasma metabolomics in a single subject with CTX, both before and after 6 months of CDCA therapy, and compared results with a reference cohort of over 1100 individuals. Data were analyzed for significant metabolite changes and pathway alterations. Untreated CTX exhibited marked depletion of bile acid intermediates and elevations in sterol precursors, consistent with the known enzymatic block in this pathway. Metabolomics highlighted additional pathways affected by bile acid and oxysterol signaling such as fatty acid metabolism, NAD+ de novo synthesis, phosphatidylethanolamines, sphingolipids and ferroptosis. Following six months of CDCA therapy, sterol precursors normalized, bile acid intermediates partially recovered, and phosphatidylethanolamines were restored toward reference ranges, while steroid and phosphatidylcholine metabolites remained largely unchanged. This study exposes the comprehensive nature of metabolic disturbance in CTX beyond the bile acids pathway, revealing perturbations in bile acids, steroids, fatty acids, phospholipids and NAD+ synthesis and highlights the dynamic early response to CDCA therapy. The metabolomic profile of untreated CTX can be leveraged for diagnostic screening. These findings report new candidate biomarkers for diagnosis and monitoring and underscore the potential of metabolomics to uncover broader metabolic consequences in rare disease.

#5

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review.

Metabolites2026 Jan 28

Background: Myoclonus, a sudden brief shock-like involuntary movement, represents a common yet under-recognized manifestation across many inherited metabolic disorders. Although its occurrence has been reported in case series and small cohorts, the overall spectrum, pathophysiological mechanisms, and therapeutic relevance of metabolic myoclonus have not been systematically summarized. Methods: A systematic search of PubMed was conducted for English-language publications from 2014 to 2025 using predefined MeSH terms related to myoclonus, movement disorders, and inborn errors of metabolism. Titles and abstracts were screened independently by three reviewers. After removal of duplicates, 27 articles were included, complemented by 65 additional references addressing individual disorders. Data were organized according to the International Classification of Inherited Metabolic Disorders (ICIMD). Results: Myoclonus was documented across six ICIMD categories, including intermediary metabolism, mitochondrial energy metabolism, lipid metabolism, disorders of complex molecules and organelles, cofactor and mineral metabolism, and metabolic cell signaling disorders. Clinical presentation ranged from isolated jerks to progressive myoclonic epilepsies. Several conditions-such as GLUT1 deficiency, cerebrotendinous xanthomatosis, and folate receptor α deficiency-are treatable through dietary or pharmacological interventions. Conclusions: Recognition of myoclonus as a presenting feature of inherited errors of metabolism (IEMs) is critical for timely diagnosis and treatment. Metabolic screening should be considered in all unexplained cases of myoclonus, particularly when accompanied by developmental delay or systemic abnormalities.

Publicações recentes

Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot Study.

Cerebellum2026 Apr 17

Utilization of screening for cerebrotendinous xanthomatosis in adult patients with idiopathic ataxia.

Front Neurol2026

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis.

Muscle Nerve2026 Mar 26

Limited sample stability of chenodeoxycholic acid in pharmaceutical quality control.

📖 Revisão

Eur J Hosp Pharm2026 Mar 23

Cerebrotendinous xanthomatosis in the pediatric age group: Early diagnosis based on two case reports.

An Pediatr (Engl Ed)2026 Mar 20

Ver todas no PubMed

📚 EuropePMC662 artigos no totalmostrando 197

European journal of hospital pharmacy : science and practice

Limited sample stability of chenodeoxycholic acid in pharmaceutical quality control.

Cerebrotendinous xanthomatosis in the pediatric age group: Early diagnosis based on two case reports.

Anales de pediatria

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.

Metabolic brain disease

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis.

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review.

Metabolites

Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX.

Frontiers in pharmacology

Bile acids as therapeutic agents.

Clinical and neuroimaging features in a case of cerebrotendinous xanthomatosis with a CYP27A1 genotype newly identified in morocco: a literature review of African cases.

Neurogenetics

Sisli Etfal Hastanesi tip bulteni

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.

Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.

[In cases of cataracts also consider cerebrotendinous xanthomatosis].

Die Ophthalmologie

[Cerebrotendinous xanthomatosis-Interdisciplinary collaboration particularly relevant].

Die Ophthalmologie

Pharmacokinetic Cross-Over Study of Pharmacy-Compounded Chenodeoxycholic Acid Capsules Compared to Authorized Capsules.

Pharmaceutics

Cellular and molecular life sciences : CMLS

Cholestanol promotes tau pathology in a mouse model of tauopathy.

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

Health science reports

International journal of molecular sciences

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.

Limited sensitivity of somatosensory evoked potentials as disease monitoring biomarkers in hereditary spastic paraplegias.

PloS one

The primary care companion for CNS disorders

Cerebrotendinous Xanthomatosis: Unraveling Prominent Neuropsychiatric Symptoms and Mild Cognitive Impairment With Subsequent Clinical Improvement.

Reprint of: Spotlight on timely diagnosis and treatment in subtle ataxia and spastic gait: Expert commentary.

Indian dermatology online journal

Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time.

Information Theory Analysis of CTX Shows Consistent Clinical Presentation.

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

Molecular syndromology

Journal of orthopaedic case reports

Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report.

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.

Neurology international

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.

Unmasking Cerebrotendinous Xanthomatosis: Clinical Recognition of a Treatable Cause of Progressive Ataxia.

Neurology

Journal of medical case reports

Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report.

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

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

Molecular syndromology

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

An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis.

Reports (MDPI)

Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.

Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving CYP27A1(C.526del).

JCEM case reports

Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects.

Beyond the cataract: Comprehensive ophthalmologic and retinal imaging analysis in cerebrotendinous xanthomatosis.

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

Radiology case reports

Spotlight on timely diagnosis and treatment in subtle ataxia and spastic gait: Expert commentary.

Archives of endocrinology and metabolism

Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report.

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis.

Clinical variability in cerebrotendinous xanthomatosis (CTX): Insights from 16 cases across Gulf Cooperation Council's (GCC's) high consanguineous population.

Device-Aided Treatment of Parkinsonism in Cerebrotendinous Xanthomatosis.

Regulatory News: Chenodiol for the Treatment of Cerebrotendinous Xanthomatosis: FDA Approval Summary.

Epilepsy & behavior reports

Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity.

Genetics in medicine : official journal of the American College of Medical Genetics

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.

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment.

The molecular landscape of hereditary ataxia: a single-center study.

Human genetics

Juvenile Cataract and Chronic Diarrhea: A Single Etiology.

Cureus

Molecular dynamics, docking and quantum calculations reveal conformational changes influenced by CYP271A amino acid mutations related to cerebrotendinous xanthomatosis.

Scientific reports

Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series.

Inferior olivary hypertrophy and palatal tremor in cerebrotendinous xanthomatosis.

A case series of nine patients with cerebrotendinous xanthomatosis from India and a systematized review of Indian literature.

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

Frontiers in psychiatry

Molecular genetics and metabolism reports

Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia.

Molecular genetics and metabolism

Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.

Journal of movement disorders

Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman With Cervical Dystonia.

A case report of Cerebrotendinous Xanthomatosis: Progressive gait difficulties and juvenile cataracts in a 33-year-old male.

European journal of neurology

Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.

Frontiers in cardiovascular medicine

Cerebrotendinous xanthomatosis: a literature review and case study.

The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.

European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences

Challenges in the identification and quantification of an unknown impurity in chenodeoxycholic acid drug substance.

Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention.

Brain sciences

Journal of lipid research

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome.

The clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish population.

Sleep disorders in cerebrotendinous xanthomatosis: A case series.

Sleep medicine

Corrigendum: Frontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023.

Early Onset Parkinsonism: Differential diagnosis and what not to miss.

The Journal of the Association of Physicians of India

Symptomatic Palatal Tremors in a Rare Treatable Neurometabolic Disorder: A Case Report.

Frontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023.

Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.

Journal of medical case reports

A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report.

Case report: Cerebrotendinous xanthomatosis treatment follow-up.

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

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

Molecular genetics and metabolism

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

Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report.

Medicine

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

Tremor and other hyperkinetic movements (New York, N.Y.)

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

Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them.

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

Neurology India

Current opinion in lipidology

Newborn screening for lipid disorders.

Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.

Genetics in medicine : official journal of the American College of Medical Genetics

Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies.

The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis.

JCEM case reports

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing.

The International journal of neuroscience

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

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

Advances in therapy

World journal of psychiatry

Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report.

Resection of bilateral massive Achilles tendon xanthomata with reconstruction using vascularized iliotibial tract: A case report and literature review.

Medicine

Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions.

Psychiatry research

Annals of Indian Academy of Neurology

Cerebrotendinous Xanthomatosis: A Rare Etiology of the "Hot-Cross Bun" Sign.

Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis.

Nutrients

Cholestanol accelerates α-synuclein aggregation and spreading by activating asparagine endopeptidase.

JCI insight

Journal of binocular vision and ocular motility

Indications for Systemic and Genetic Testing in Patients with Congenital Cataracts.

Frontiers in pharmacology

Product development and quality of pharmacy compounded chenodeoxycholic acid capsules for Dutch cerebrotendinous xanthomatosis patients.

A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels.

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.

Cells

Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report.

Treatment of cerebrotendinous xanthomatosis in pregnancy: Patient and physician perspectives.

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

Brain sciences

Evolution and trends of childhood cataract research in the past 10 years: A scientometric analysis.

Heliyon

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis.

A new CYP27A1 mutation in a case of cerebrotendinous xanthomatosis.

Neurologia

Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy.

Biomedicines

Journal of investigative medicine high impact case reports

A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene.

[Clinical and genetics characteristics of adult-onset cerebrotendinous xanthomatosis: analysis of a Chinese pedigree].

Zhonghua nei ke za zhi

Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.

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

Ophthalmic genetics

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

The Indian journal of medical research

A rare case of cerebrotendinous xanthomatosis with typical clinical & radiological features.

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

Neurocase

Clinical biomechanics (Bristol, Avon)

Balance impairment in cerebrotendinous xanthomatosis: Ankle strategy deficit. A case study.

Pediatrics international : official journal of the Japan Pediatric Society

Inborn errors of bile acid metabolism in Japan.

Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation.

Cureus

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.

Copy number variations in SPAST and ATL1 are rare among Brazilians.

Clinica chimica acta; international journal of clinical chemistry

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

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

Cerebrotendinous xanthomatosis and infertility: A case report.

Clinical case reports

[Neurological manifestation of cerebrotendinous xanthomatosis-Clinical findings and cranial imaging in low-field MRI].

Der Nervenarzt

World journal of clinical cases

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

Features of the metabolic syndrome and subclinical atherosclerosis in patients with cerebrotendinous xanthomatosis: An augmented risk for premature cardiovascular disease.

Frontiers in genetics

Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?

Journal of internal medicine

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

Journal of movement disorders

Treatable Ataxias: How to Find the Needle in the Haystack?

Endocrinology and metabolism clinics of North America

The Inherited Hypercholesterolemias.

World journal of clinical cases

CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report.

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

Neurology

Cerebrotendinous xanthomatosis: clinical and imaging clues of a rare treatable cause of ataxia.

Cerebellar Cognitive Affective Syndrome in a Case of Cerebrotendinous Xanthomatosis.

Pediatric transplantation

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

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

BMC neurology

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene.

Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Neurogenetics

Achilles swelling and ataxia in an adolescent: A case report of cerebrotendinous xanthomatosis.

Radiology case reports

Annals of Indian Academy of Neurology

Cerebrotendinous Xanthomatosis: A Moroccan Case Report and Review of Literature.

Cerebrotendinous xanthomatosis: A case report.

Asian journal of surgery

Endoscopic resection of tendon xanthoma in the elbow of a patient with cerebrotendinous xanthomatosis.

Journal of atherosclerosis and thrombosis

Prospective Registry Study of Primary Dyslipidemia (PROLIPID): Rationale and Study Design.

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.

Frontiers in pharmacology

Pharmacy Compounded Medicines for Patients With Rare Diseases: Lessons Learned From Chenodeoxycholic Acid and Cholic Acid.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

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

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

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

Molecular therapy. Methods & clinical development

Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of cerebrotendinous xanthomatosis.

Cerebrotendinous xanthomatosis with radiological abnormalities of the chest.

Emerging Trends and Research Foci in Cataract Genes: A Bibliometric and Visualized Study.

Frontiers in genetics

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study.

Cardiac Involvement in Movement Disorders.

Molecular genetics and metabolism

Childhood-onset hereditary spastic paraplegia and its treatable mimics.

Rare case of Early Cerebrotendinous Xanthomatosis in an Adolescent Male.

Neurology India

Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020).

Frontiers in neuroscience

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.

Case reports in rheumatology

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

Journal of neurology, neurosurgery, and psychiatry

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.

Genes

Neuropsychiatric disease and treatment

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.

JIMD reports

Journal of atherosclerosis and thrombosis

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

Teaching NeuroImage: Symmetric Deep Cerebellar White Matter T2 and Susceptibility-Weighted Imaging Hypointense Lesions in a Case of Cerebrotendinous Xanthomatosis.

Neurology

Journal of lipid research

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

Cerebrotendinous xanthomatosis revisited.

Practical neurology

Journal of internal medicine

Cerebrotendinous xanthomatosis without neurological involvement.

Journal of internal medicine

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

Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry.

Analytica chimica acta

Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.

Metabolic brain disease

Actas espanolas de psiquiatria

Clinical Note: Bipolar disorder in Cerebrotendinous Xanthomatosis: a case report.

Molecular genetics and metabolism reports

Spinal cerebrotendinous xanthomatosis: A case report and literature review.

The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature.

Medicine

Current opinion in lipidology

Update on cerebrotendinous xanthomatosis.

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

Frontiers in pediatrics

Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid.

Cerebellum & ataxias

Epilepsy & behavior reports

Progressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation.

Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants.

Iranian biomedical journal

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.

Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis.

Annals of translational medicine

Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population.

The American Journal of dermatopathology

Unique Variant of Cerebrotendinous Xanthomatosis Presenting With Eyelid Involvement Due to Heterozygous CYP7A1 and SLC10A1 Gene Mutations.

Cerebrotendinous xanthomatosis: A report of 3 cases.

JAAD case reports

World journal of clinical cases

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

Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatment.

JIMD reports

Arquivos brasileiros de cardiologia

Spontaneous Coronary Artery Dissection in a Patient with Cerebrotendinous Xanthomatosis.

Movement disorders in the early-diagnosed cerebrotendinous xanthomatosis: An electrophysiological study.

An Optimized NMR Stripline for Sensitive Supercritical Fluid Chromatography-Nuclear Magnetic Resonance of Microliter Sample Volumes.

Analytical chemistry

Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis.

Frontiers in pediatrics

c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.

Frontiers in genetics

Internal medicine (Tokyo, Japan)

A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Multifocal, hypoechogenic nerve thickening in Cerebrotendinous Xanthomatosis.

Genetics in medicine : official journal of the American College of Medical Genetics

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

2019

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Neuro-degenerative diseases

Journal of pediatric endocrinology & metabolism : JPEM

A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.

Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition.

BJR case reports

Cardiovascular intervention and therapeutics

A case of effort angina complicated with cerebrotendinous xanthomatosis involving severe coronary artery calcification and the detection of a calcified nodule on optical coherence tomography.

Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.

Parkinsonism with Normal Dopaminergic Presynaptic Terminals in Cerebrotendinous Xanthomatosis.