Evidence map›Paper›PMID 42349861›Full record

ReviewArquivos de neuro-psiquiatria2026

The weight of genotype on the clinical presentation of COQ7-related hereditary motor axonal neuropathy: a case series and literature review.

Laura Alonso Matheus Montouro, Amanda Selvátici Santos Dias, Maria da Penha Ananias Morita, Érica Nogueira Coelho, João Aris Kouyoumdjian, Carla Renata Graca, Fábio de Nazaré Oliveira, Pedro Henrique Marte Arruda Sampaio, Charles Marques Lourenço, Eduardo de Paula Estephan

Abstract readReviewCase Reports
In one paragraph

Review in Arquivos de neuro-psiquiatria, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Laura Alonso Matheus MontouroFaculdade de Medicina de São José do Rio Preto, Departamento de Ciências Neurológicas, São José do Rio Preto SP, Brazil.ORCID 0000-0001-9856-9921
Amanda Selvátici Santos DiasFaculdade de Medicina de São José do Rio Preto, Departamento de Ciências Neurológicas, São José do Rio Preto SP, Brazil.ORCID 0009-0009-3008-013X
Maria da Penha Ananias MoritaFaculdade de Medicina de São José do Rio Preto, Departamento de Ciências Neurológicas, São José do Rio Preto SP, Brazil.ORCID 0000-0002-8087-5936
Érica Nogueira CoelhoFaculdade de Medicina de São José do Rio Preto, Departamento de Ciências Neurológicas, São José do Rio Preto SP, Brazil.ORCID 0009-0005-6242-9464
João Aris KouyoumdjianFaculdade de Medicina de São José do Rio Preto, Departamento de Ciências Neurológicas, São José do Rio Preto SP, Brazil.ORCID 0000-0002-9384-9964
Carla Renata GracaFaculdade de Medicina de São José do Rio Preto, Departamento de Ciências Neurológicas, São José do Rio Preto SP, Brazil.ORCID 0000-0003-3818-168X
Fábio de Nazaré OliveiraFaculdade de Medicina de São José do Rio Preto, Departamento de Ciências Neurológicas, São José do Rio Preto SP, Brazil.ORCID 0000-0002-0275-6595
Pedro Henrique Marte Arruda SampaioUniversidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.ORCID 0000-0002-7916-4096
Charles Marques LourençoFaculdade de Medicina de São José do Rio Preto, Departamento de Ciências Neurológicas, São José do Rio Preto SP, Brazil.ORCID 0000-0002-2296-6098
Eduardo de Paula EstephanFaculdade de Medicina de São José do Rio Preto, Departamento de Ciências Neurológicas, São José do Rio Preto SP, Brazil.ORCID 0000-0002-6807-1951

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Pathogenic variants of the Objective: To describe and analyze our case series, review Methods: We described 5 dHMN-p.Met1? patients and searched Results: We analyzed four patients with dHMN plus (two with pyramidal syndrome [PS], one with cerebellar ataxia [CA] and PS, and one with cognitive impairment [CI]) and one with pure dHMN. Our search identified 47 cases of Conclusion: In conclusion, our findings suggest that the p.Met1? variant is associated with selected phenotype, even after adjustment for genotype/geographic origin. Brazilian origin remained independently related to cerebellar involvement, indicating potential modifying factors beyond genotype.

Indexed as

Hereditary Sensory and Motor NeuropathyUbiquinoneAdultBrazilFemaleGenotypeHumansMaleMiddle AgedPhenotypeUbiquinone

Identifiers

PMID42349861
PMCPMC13301295

What Socratic holds

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LicenceCC BY
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Registered trials

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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 Socratic graph.