ArticleJournal of neurology2019
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.
Article in Journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.Molecular genetics and metabolism · 2025Pooled it
- The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Monitoring Atypical Metabolite Biomarkers in Patients with Bile Acid Synthesis Disorders by a Novel Targeted Tandem Mass Spectrometry Assay.Metabolites · 2026Article
- Gut microbial genetic variations are associated with exploratory behavior via SNV-driven metabolic regulation in a sheep model.Science China. Life sciences · 2026Article
- Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.Journal of inherited metabolic disease · 2025Review
- Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy.Orphanet journal of rare diseases · 2025Review
- Bile acids as therapeutic agents.Frontiers in pharmacology · 2025Review
- Cerebrotendinous xanthomatosis: a literature review and case study.Frontiers in cardiovascular medicine · 2024Review
- Case report: Cerebrotendinous xanthomatosis treatment follow-up.Frontiers in neurology · 2024Review
- Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review.Brain sciences · 2023Review
- Roles of bile acids signaling in neuromodulation under physiological and pathological conditions.Cell & bioscience · 2023Review
- Product Validation and Stability Testing of Pharmacy Compounded Cholic Acid Capsules for Dutch Patients with Rare Bile Acid Synthesis Defects.Pharmaceutics · 2023Article
- Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.BMC neurology · 2022Article
- Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.Frontiers in neurology · 2022Review
- Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.Journal of atherosclerosis and thrombosis · 2021Article
- Isomaltulose Exhibits Prebiotic Activity, and Modulates Gut Microbiota, the Production of Short Chain Fatty Acids, and Secondary Bile Acids in Rats.Molecules (Basel, Switzerland) · 2021Article
- Bile Acids: A Communication Channel in the Gut-Brain Axis.Neuromolecular medicine · 2021Review
- Genetic disorders with central nervous system white matter abnormalities: An update.Clinical genetics · 2021Review
- Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis.BMJ case reports · 2020Article
- Bile Acid Signaling in Neurodegenerative and Neurological Disorders.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
13 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebrotendineous xanthomatosis (CTX) is an autosomal recessive disorder of bile acids synthesis. Patients may present with a variety of clinical manifestations: bilateral cataract and chronic diarrhea during childhood, then occurrence of neurological debilitating symptoms in adulthood (cognitive decline, motor disorders). Plasma cholestanol is used as a diagnostic marker of CTX, and to monitor the response to the treatment. Current treatment for CTX is chenodeoxycholic acid (CDCA), which was reported to improve and/or stabilize clinical status and decrease levels of plasma cholestanol. Rare published reports have also suggested a potential efficacy of cholic acid (CA) in patients with CTX. In this retrospective Franco-Belgian multicentric study, we collected data from 12 patients treated with CA, evaluating their clinical status, cholestanol levels and adverse effects during the treatment period. The population was divided in two subgroups: treatment-naive (who never had CDCA prior to CA) and non-treatment-naive patients (who had CDCA prior to CA introduction). We found that treatment with CA significantly and strongly reduced cholestanol levels in all patients. Additionally, 10 out of 12 patients clinically improved or stabilized with CA treatment. Worsening was noted in one treatment-naïve patient and one non-treatment-naïve patient, but both patients experienced similar outcomes with CDCA treatment as well. No adverse effects were reported from patients with CA treatment, whereas elevated transaminases were observed in some patients while they were treated with CDCA. In conclusion, these findings suggest that CA may be a suitable alternative treatment for CTX, especially in patients with side effects related to CDCA.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.