Evidence map›Paper›PMID 37532514›Full record

ArticleInternal medicine (Tokyo, Japan)2023

Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia.

Nobutaka Takahashi, Takayasu Mishima, Shinsuke Fujioka, Kohtarou Izumi, Masahiro Ando, Yujiro Higuchi, Hiroshi Takashima, Yoshio Tsuboi

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

Article in Internal medicine (Tokyo, Japan), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 41% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Spectrum ofGenes · 2024
    Article
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

8 authors at 2 institutions in 1 country.

Nobutaka TakahashiDepartment of Neurology, Faculty of Medicine, Fukuoka University, Japan.
Takayasu MishimaDepartment of Neurology, Faculty of Medicine, Fukuoka University, Japan.
Shinsuke FujiokaDepartment of Neurology, Faculty of Medicine, Fukuoka University, Japan.
Kohtarou IzumiOhashi Go Neurosurgery Neurology Clinic, Japan.
Masahiro AndoDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Yujiro HiguchiDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Hiroshi TakashimaDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Yoshio TsuboiDepartment of Neurology, Faculty of Medicine, Fukuoka University, Japan.
Fukuoka University · JPKagoshima University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Two patients, 48- and 50-year-old sisters, presented with a characteristic facial appearance with slowly progressive deafness and cerebellar ataxia starting in their 30s. Genetic testing identified compound heterozygous pathogenic variants in the ERCC6 gene: c.1583G>A (p.G528E) and c.1873T>G (p.Y625D). A diagnosis of Cockayne syndrome (CS) B type III was made. CS is usually diagnosed in childhood with well-defined facial characteristics and photosensitivity. This case report describes rare cases of adulthood CS with a primary presentation of slowly progressing deafness and cerebellar ataxia. CS should be considered in adults with characteristic facial and skin findings, deafness, and cerebellar ataxia.

Indexed as

Cerebellar AtaxiaCockayne SyndromeDeafnessAdultDNA Repair EnzymesHumansMiddle AgedMutationSiblingsDNA Repair Enzymescerebellar ataxiaCockayne syndrome (CS) B type IIIERCC6 pathogenic variant

Identifiers

PMID37532514
PMCPMC10465293
OpenAlexW4385411190

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.