ArticleMolecular genetics and metabolism reports2021
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis 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
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Information Theory Analysis of CTX Shows Consistent Clinical Presentation.Journal of inherited metabolic disease · 2025Pooled it
- Genetics of Cerebrotendinous Xanthomatosis.Molecular diagnosis & therapy · 2026Review
- 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
- Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review.Brain sciences · 2023Review
- Cerebrotendinous xanthomatosis and infertility: A case report.Clinical case reports · 2022Article
- A Recent Ten-Year Perspective: Bile Acid Metabolism and Signaling.Molecules (Basel, Switzerland) · 2022Review
- Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.Frontiers in neurology · 2022Review
- NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.Genes · 2021Article
- Genetic Disorders That Confer Risk for the Development of Psychosis and White Matter Hyperintensities on T2-weighted Imaging: A Practical Guide for Psychiatrists.Innovations in clinical neuroscienceReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundClassic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms. It is due to biallelic inactivation of CASE PRESENTATION: We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal.
conclusionsThe diagnosis of spinal CTX can be easily missed or delayed in absence of xanthomas. There is a higher prevalence of the Arg395Cys allele in spinal CTX as compared to classic childhood-onset CTX. CDCA treatment seems to stabilize or improve clinical symptoms in most patients. However, as seen in our patient and in two previously reported cases, sudden interruption of CDCA may lead to irreversible neurological complications.
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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.