Evidence map›Paper›PMID 37558483›Full record

ArticleInternal medicine (Tokyo, Japan)2024

Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.

Gaku Okumura, Katsuya Nakamura, Rie Seyama, Yuri Uchiyama, Jun Shinagawa, Shinya Nishio, Junji Ikeda, Shohei Takayama, Minori Kodaira, Tomoki Kosho and 3 more

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2024. 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, top 73% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

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

13 authors at 5 institutions in 1 country.

Gaku OkumuraDepartment of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan.
Katsuya NakamuraDepartment of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan.
Rie SeyamaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
Yuri UchiyamaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
Jun ShinagawaDepartment of Otorhinolaryngology Head and Neck Surgery, Shinshu University School of Medicine, Japan.
Shinya NishioDepartment of Otorhinolaryngology Head and Neck Surgery, Shinshu University School of Medicine, Japan.
Junji IkedaDepartment of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan.
Shohei TakayamaDepartment of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan.
Minori KodairaDepartment of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan.
Tomoki KoshoCenter for Medical Genetics, Shinshu University Hospital, Japan.
Yutaka TakumiDepartment of Otorhinolaryngology Head and Neck Surgery, Shinshu University School of Medicine, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
Yoshiki SekijimaDepartment of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan.
Shinshu University · JPJuntendo University · JPShinshu University Hospital · JPYokohama City University · JPYokohama City University Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We encountered a 27-year-old Japanese woman with sensorineural deafness progressing to motor and sensory neuropathy. At 16 years old, she had developed weakness in her lower extremities and hearing impairment, which gradually deteriorated. At 22 years old, combined audiological, electrophysiological, and radiological examination results were consistent with auditory neuropathy spectrum disorder (ANSD). Genetic analyses identified a previously reported missense variant in the ATP1A1 gene (NM_000701.8:c.1799C>G, p.Pro600Arg). Although sensorineural deafness has been reported as a clinical manifestation of ATP1A1-related disorders, our case suggested that ANSD may underlie the pathogenesis of deafness in ATP1A1-related disorders. This case report broadens the genotype-phenotype spectrum of ATP1A1-related disorders.

Indexed as

Charcot-Marie-Tooth DiseaseDeafnessHearing Loss, CentralHearing Loss, SensorineuralAdolescentAdultFemaleHumansSodium-Potassium-Exchanging ATPaseYoung AdultATP1A1 protein, humanSodium-Potassium-Exchanging ATPaseATP1A1ATP1A1-related disorderauditory neuropathy spectrum disorderCharcot-Marie-Tooth disease type 2DDsensorineural hearing loss

Identifiers

PMID37558483
PMCPMC11045389
OpenAlexW4385653976

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.