ArticleJournal of neurology2013
Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid.
Article in Journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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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
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Information Theory Analysis of CTX Shows Consistent Clinical Presentation.Journal of inherited metabolic disease · 2025Pooled it
- Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis.Muscle & nerve · 2026Article
- Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches.Neurogenetics · 2026Article
- An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis.Reports (MDPI) · 2025Article
- Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention.Brain sciences · 2024Review
- Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.Orphanet journal of rare diseases · 2024Article
- Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review.Brain sciences · 2023Review
- Case report: Cerebrotendinous xanthomatosis with a novel mutation in theFrontiers in neurology · 2023Article
- The Intersection Between Cerebellar Ataxia and Neuropathy: a Proposed Classification and a Diagnostic Approach.Cerebellum (London, England) · 2022Review
- Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.Journal of atherosclerosis and thrombosis · 2021Article
- Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.Metabolic brain disease · 2021Article
- Investigation of Neuropathology after Nerve Release in Chronic Constriction Injury of Rat Sciatic Nerve.International journal of molecular sciences · 2021Article
- Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population.Annals of translational medicine · 2020Article
- Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.Journal of inherited metabolic disease · 2018Article
- Cerebrotendinous Xanthomatosis with Nodular-hypertrophy of the Lumbosacral Roots.Internal medicine (Tokyo, Japan) · 2018Article
- Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).Journal of inherited metabolic disease · 2017Review
- Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report.Annals of rehabilitation medicine · 2017Article
- Effects of bile acids on neurological function and disease.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Review
- Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.Journal of inherited metabolic disease · 2016Article
- Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.Orphanet journal of rare diseases · 2014Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Polyneuropathy has been reported in cerebrotendinous xanthomatosis (CTX), although its nature and possible association with certain genotypes and phenotypes are unclear. The effect of chronic administration of chenodeoxycholic acid (CDCA) on peripheral nerve conduction parameters is still debated. We report clinical, laboratory, and electrophysiological findings in 35 CTX patients. Twenty-six subjects (74.2 %) showed peripheral nerve abnormalities. Polyneuropathy was predominantly axonal (76.9 % of patients) and generally mild. No correlation was found between its presence and clinical or biochemical data. In polyneuropathic patients, CDCA treatment improved electrophysiological conduction parameters, irrespective of the duration of therapy. Improvement mainly concerned nerve conduction velocities, whereas most nerve amplitudes remained unchanged. This means that CDCA treatment did not influence the number of axons activated by maximum electrical stimulation but increased the conduction of the still-excitable fibers. Our findings may suggest that CDCA treatment promotes myelin synthesis in nerve fibers with residual unaffected axons. The effect of therapy may therefore depend largely on the extent of irreversible structural damage to axons.
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Registered trials
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