ReviewFrontiers in neurology2022
Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.
Review in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
27 citing papers in PubMed, 45 citations in OpenAlex.
- Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice.JPGN reports · 2026Article
- A treatable neurogenetic disorder: two cerebrotendinous xanthomatosis cases illustrating clinical heterogeneity.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Targeted CYP27A1 gene analysis for early identification of cerebrotendinous xanthomatosis in juvenile cataract patients: report of a novel variant.BMC ophthalmology · 2026Article
- 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
- Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot Study.Cerebellum (London, England) · 2026Article
- 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 · 2026Review
- FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy.Health science reports · 2025Article
- Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.International journal of molecular sciences · 2025Article
- Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.Annals of neurology · 2025Review
- 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
- A diagnostic approach to neurocutaneous syndromes.Arquivos de neuro-psiquiatria · 2025Review
- A general approach for activity-based protein profiling of oxidoreductases with redox-differentiated diarylhalonium warheads.Chemical science · 2025Article
- Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman With Cervical Dystonia.Journal of movement disorders · 2025Article
- Bile acids as therapeutic agents.Frontiers in pharmacology · 2025Review
- Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice.Frontiers in psychiatry · 2025Article
- Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention.Brain sciences · 2024Review
- A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report.Journal of medical case reports · 2024Article
- The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis.JCEM case reports · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.