ReviewFrontiers in cardiovascular medicine2024
Cerebrotendinous xanthomatosis: a literature review and case study.
Review in Frontiers in cardiovascular medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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
3 citing papers in PubMed.
- Sitosterolemia misdiagnosed as homozygous familial hypercholesterolemia: A diagnostic challenge.American journal of preventive cardiology · 2026Article
- Review
- Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings.Radiology case reports · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX. Early diagnosis is essential to improve patient outcomes. Neurological disturbances, cataracts, and intractable diarrhea are key features to raise diagnostic suspicion and differentiate CTX from other metabolic disorders in patients with dyslipidemia and xanthomas. The diagnosis of CTX depends on high cholestanol plasma levels, undetectable plasma bile acids, neuroradiological findings, and CYP27A1 gene analysis. This review provides a stepwise approach to diagnosing patients with CTX, aims to improve physician awareness of CTX, and highlights the effectiveness of chenodeoxycholic acid as the standard of care. In addition, we report a unique case of CTX with major premature cardiovascular events, initially misdiagnosed as heterozygous familial hypercholesterolemia. This review also provides evidence to establish the c.470T>C (p. Leu157Pro) variant of the CYP27A1 gene as a likely pathologic variant.
Indexed as
Identifiers
What OpenQuestion 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 OpenQuestion graph.