ArticleJournal of inherited metabolic disease2018
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.
Article in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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.
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Who cites it
31 citing papers in PubMed, 2 syntheses or guidelines pooled it, 66 citations in OpenAlex.
- Information Theory Analysis of CTX Shows Consistent Clinical Presentation.Journal of inherited metabolic disease · 2025Pooled it
- Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.Molecular genetics and metabolism · 2025Pooled it
- Genetics of Cerebrotendinous Xanthomatosis.Molecular diagnosis & therapy · 2026Review
- Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis.Muscle & nerve · 2026Article
- Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study.Molecular syndromology · 2025Article
- Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy.Orphanet journal of rare diseases · 2025Review
- Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment.Clinical genetics · 2025Article
- Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention.Brain sciences · 2024Review
- Cerebrotendinous xanthomatosis: a literature review and case study.Frontiers in cardiovascular medicine · 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
- Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.Orphanet journal of rare diseases · 2023Article
- 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 · 2022Article
- Distinct Bile Acid Signature in Parkinson's Disease With Mild Cognitive Impairment.Frontiers in 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
- Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study.Orphanet journal of rare diseases · 2021Article
- Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.Metabolic brain disease · 2021Article
- Bile Acids: A Communication Channel in the Gut-Brain Axis.Neuromolecular medicine · 2021Review
- Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.Genes · 2021Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disease related to sterols metabolism. It affects both central and peripheral nervous systems but treatment with chenodeoxycholic acid (CDCA) has been reported to stabilize clinical scores and improve nerve conduction parameters. Few quantitative brain structural studies have been conducted to assess the effect of CDCA in CTX. METHODS AND
resultsWe collected retrospectively clinical, neurophysiological, and quantitative brain structural data in a cohort of 14 patients with CTX treated by CDCA over a mean period of 5 years. Plasma cholestanol levels normalized under treatment with CDCA within a few months. We observed a significant clinical improvement in patients up to 25 years old, whose treatment was initiated less than 15 years after the onset of neurological symptoms. Conversely, patients whose treatment was initiated more than 25 years after neurological disease onset continued their clinical deterioration. Eleven patients presented with a length-dependent peripheral neuropathy, whose electrophysiological parameters improved significantly under CDCA. Volumetric analyses in a subset of patients showed no overt volume loss under CDCA. Moreover, diffusion weighted imaging showed improved fiber integrity of the ponto-cerebellar and the internal capsule with CDCA. CDCA was well tolerated in all patients with CTX.
conclusionCDCA may reverse the pathophysiological process in patients with CTX, especially if treatment is initiated early in the disease process. Besides tendon xanthoma, this study stresses the need to consider plasma cholestanol measurement in any patient with infantile chronic diarrhea and/or jaundice, juvenile cataract, learning disability and/or autism spectrum disorder, pyramidal signs, cerebellar syndrome or peripheral neuropathy.
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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.