Evidence map›Paper›PMID 38673663›Full record

ReviewJournal of clinical medicine2024

Primary Coenzyme Q10 Deficiency-Related Ataxias.

Piervito Lopriore, Marco Vista, Alessandra Tessa, Martina Giuntini, Elena Caldarazzo Ienco, Michelangelo Mancuso, Gabriele Siciliano, Filippo Maria Santorelli, Daniele Orsucci

Open access · goldAbstract readReview
In one paragraph

Review in Journal of clinical medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.2field-weighted citation impact, top 23% 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

6 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Novel advanced patient-derivedFrontiers in neurology
    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

9 authors at 2 institutions in 1 country.

Piervito LoprioreUnit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy.ORCID 0000-0002-9789-3129
Marco VistaUnit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy.
Alessandra TessaMolecular Medicine, IRCCS Stella Maris Foundation, 56122 Pisa, Italy.
Martina GiuntiniUnit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy.
Elena Caldarazzo IencoUnit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy.
Michelangelo MancusoNeurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.ORCID 0000-0003-2738-8562
Gabriele SicilianoNeurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.ORCID 0000-0002-6142-2384
Filippo Maria SantorelliMolecular Medicine, IRCCS Stella Maris Foundation, 56122 Pisa, Italy.
Daniele OrsucciUnit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy.ORCID 0000-0003-4847-7812
University of Pisa · ITFondazione Stella Maris · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task (dysmetria), caused by the dysfunction of the cerebellum or its connections. It is frequently associated with other signs of cerebellar dysfunction, including abnormal eye movements, dysmetria, kinetic tremor, dysarthria, and/or dysphagia. Among the so-termed mitochondrial ataxias, variants in genes encoding steps of the coenzyme Q10 biosynthetic pathway represent a common cause of autosomal recessive primary coenzyme Q10 deficiencies (PCoQD)s. PCoQD is a potentially treatable condition; therefore, a correct and timely diagnosis is essential. After a brief presentation of the illustrative case of an Italian woman with this condition (due to a novel homozygous nonsense mutation in

Indexed as

ataxiacerebellumcoenzyme Q10mitochondrial diseasesprimary coenzyme Q10 deficiencies

Identifiers

PMID38673663
PMCPMC11050807
OpenAlexW4394952580

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.