Evidence map›Paper›PMID 40458460›Full record

ArticleFrontiers in neurology2025

Metabolomics insights into Charcot-Marie-Tooth disease: toward biomarker discovery.

Signe Setlere, Theresa Schiemer, Annija Vaska, Linda Gailite, Dmitrijs Rots, Viktorija Kenina, Kristaps Klavins

Abstract read
In one paragraph

Article in Frontiers in neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Signe SetlereDepartment of Neurology and Neurosurgery, Children's Clinical University Hospital, Riga, Latvia.
Theresa SchiemerFaculty of Natural Sciences and Technology, Institute of Biomaterials and Bioengineering, Riga Technical University, Riga, Latvia.
Annija VaskaFaculty of Natural Sciences and Technology, Institute of Biomaterials and Bioengineering, Riga Technical University, Riga, Latvia.
Linda GailiteInstitute of Oncology and Molecular Genetics, Riga Stradins University, Riga, Latvia.
Dmitrijs RotsInstitute of Oncology and Molecular Genetics, Riga Stradins University, Riga, Latvia.
Viktorija KeninaInstitute of Oncology and Molecular Genetics, Riga Stradins University, Riga, Latvia.
Kristaps KlavinsFaculty of Natural Sciences and Technology, Institute of Biomaterials and Bioengineering, Riga Technical University, Riga, Latvia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Charcot-Marie-Tooth disease (CMT) is a group of rare neuropathies but still the most common hereditary neuromuscular disorder with heterogeneous phenotype and usually slow progression. Currently, there are no approved treatments or validated biomarkers for sensitive monitoring of disease progression. Objectives: This study aimed to analyse selected plasma metabolite concentrations in a CMT cohort and compare them to healthy controls. For this purpose, 84 patients and 34 controls were enrolled in the study. Results: We detected a total of 33 metabolites from which acetylcarnitine was found elevated and glycine was found decreased in CMT patients. In addition, the CMTX1 subgroup has decreased valine levels compared to controls. However, further analysis revealed poor disease predictive abilities of the detected metabolites for any CMT group. Furthermore, we found no associations of these metabolites with CMT severity. Conclusion: Our study data provide information about plasma metabolite levels in CMT patients. However, these findings suggest that the metabolites mentioned above might be unspecific biomarkers of neuropathy and do not reflect disease severity.

Indexed as

biomarkerCharcot–Marie Tooth diseasegenetic and inherited disordersmetabolomepolyneuropathy

Identifiers

PMID40458460
PMCPMC12127190

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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.