Evidence map›Paper›PMID 38520521›Full record

ArticleJournal of neurology2024

Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach.

Lucie Stovickova, Hana Hansikova, Jitka Hanzalova, Zuzana Musova, Valerij Semjonov, Pavel Stovicek, Haris Hadzic, Ludmila Novotna, Martin Simcik, Pavel Strnad and 6 more

Open access · hybridAbstract read
In one paragraph

Article in Journal of neurology, 2024. 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
0.5field-weighted citation impact, top 39% of its field
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, 2 citations in OpenAlex.

  1. Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology.Movement disorders : official journal of the Movement Disorder Society · 2025
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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

16 authors at 2 institutions in 1 country.

Lucie StovickovaDepartment of Paediatric Neurology, Second Faculty of Medicine, Charles University, Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic. lucie.stovickova@lfmotol.cuni.cz.ORCID http://orcid.org/0000-0003-0646-0262
Hana HansikovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Medical Faculty, Charles University and General University Hospital in Prague, Prague 2, Czech Republic.ORCID http://orcid.org/0000-0002-2734-225X
Jitka HanzalovaDepartment of Immunology, Second Faculty of Medicine, Charles University, Motol University Hospital, Prague 5, Czech Republic.ORCID http://orcid.org/0000-0002-1024-7248
Zuzana MusovaDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University, Motol University Hospital, Prague 5, Czech Republic.
Valerij SemjonovDepartment of Paediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.ORCID http://orcid.org/0009-0008-3966-7116
Pavel Stovicek, Prague, Czech Republic.
Haris HadzicSecond Faculty of Medicine, Charles University, Prague 5, Czech Republic.
Ludmila NovotnaSecond Faculty of Medicine, Charles University, Prague 5, Czech Republic.ORCID http://orcid.org/0009-0006-9163-6486
Martin SimcikSecond Faculty of Medicine, Charles University, Prague 5, Czech Republic.
Pavel StrnadSecond Faculty of Medicine, Charles University, Prague 5, Czech Republic.
Anastaziia SerbinaSecond Faculty of Medicine, Charles University, Prague 5, Czech Republic.
Simona KaramazovovaDepartment of Neurology, Second Faculty of Medicine, Charles University, Motol University Hospital, Prague 5, Czech Republic.ORCID http://orcid.org/0009-0005-2279-474X
Jaroslava Schwabova PaulasovaDepartment of Neurology, Second Faculty of Medicine, Charles University, Motol University Hospital, Prague 5, Czech Republic.ORCID http://orcid.org/0000-0002-8465-8269
Martin VyhnalekDepartment of Neurology, Second Faculty of Medicine, Charles University, Motol University Hospital, Prague 5, Czech Republic.ORCID http://orcid.org/0000-0002-5976-4932
Pavel KrsekDepartment of Paediatric Neurology, Second Faculty of Medicine, Charles University, Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic.ORCID http://orcid.org/0000-0002-5740-3690
Alena ZumrovaDepartment of Paediatric Neurology, Second Faculty of Medicine, Charles University, Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic.ORCID http://orcid.org/0009-0000-6586-3614
Charles University · CZO2 Czech Republic (Czechia) · CZ

Funding

EFACTS NCT02069509Grantová Agentura, Univerzita Karlova 226423Grantová Agentura, Univerzita Karlova 309121MH CZ - DRO MH CZ-DRO-FNM64203MH CZ - DRO MH CZ-DRO-VFN64165Program EXCELES - Funded by the European Union - Next Generation EU LX22NPO5107
6 · The paper itself

Abstract

This study presents an in-depth analysis of mitochondrial enzyme activities in Friedreich's ataxia (FA) patients, focusing on the Electron Transport Chain complexes I, II, and IV, the Krebs Cycle enzyme Citrate Synthase, and Coenzyme Q10 levels. It examines a cohort of 34 FA patients, comparing their mitochondrial enzyme activities and clinical parameters, including disease duration and cardiac markers, with those of 17 healthy controls. The findings reveal marked reductions in complexes II and, specifically, IV, highlighting mitochondrial impairment in FA. Additionally, elevated Neurofilament Light Chain levels and cardiomarkers were observed in FA patients. This research enhances our understanding of FA pathophysiology and suggests potential biomarkers for monitoring disease progression. The study underscores the need for further clinical trials to validate these findings, emphasizing the critical role of mitochondrial dysfunction in FA assessment and treatment.

Indexed as

BiomarkersFriedreich AtaxiaUbiquinoneAdolescentAdultCitrate (si)-SynthaseCohort StudiesFemaleHumansMaleMiddle AgedMitochondriaYoung AdultBiomarkersCitrate (si)-Synthasecoenzyme Q10UbiquinoneBiomarkersComplex II (SQR)Complex I (NQR)Complex IV (COX)Disease monitoringFriedreich's ataxiaMitochondrial dysfunctionNeurofilament light chain (NFL)Therapeutic monitoringUbiquinone (Coenzyme Q10)

Identifiers

PMID38520521
PMCPMC11136723
OpenAlexW4393113954

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.