Evidence map›Paper›PMID 37407465›Full record

ArticleInternal medicine (Tokyo, Japan)2024

Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation.

Yukiyo Yoshimoto, Shoko Yoshimoto, Kensuke Kakiuchi, Rumina Miyagawa, Shin Ota, Takafumi Hosokawa, Shimon Ishida, Yujiro Higuchi, Akihiro Hashiguchi, Hiroshi Takashima and 1 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
0.1field-weighted citation impact, top 54% 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, 1 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

11 authors at 2 institutions in 1 country.

Yukiyo YoshimotoDivision of Neurology, Department of Internal Medicine IV, Osaka Medical and Pharmaceutical University, Japan.
Shoko YoshimotoDivision of Neurology, Department of Internal Medicine IV, Osaka Medical and Pharmaceutical University, Japan.
Kensuke KakiuchiDivision of Neurology, Department of Internal Medicine IV, Osaka Medical and Pharmaceutical University, Japan.
Rumina MiyagawaDivision of Neurology, Department of Internal Medicine IV, Osaka Medical and Pharmaceutical University, Japan.
Shin OtaDivision of Neurology, Department of Internal Medicine IV, Osaka Medical and Pharmaceutical University, Japan.
Takafumi HosokawaDivision of Neurology, Department of Internal Medicine IV, Osaka Medical and Pharmaceutical University, Japan.
Shimon IshidaDivision of Neurology, Department of Internal Medicine IV, Osaka Medical and Pharmaceutical University, Japan.
Yujiro HiguchiDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medicine and Dental Sciences, Japan.
Akihiro HashiguchiDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medicine and Dental Sciences, Japan.
Hiroshi TakashimaDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medicine and Dental Sciences, Japan.
Shigeki ArawakaDivision of Neurology, Department of Internal Medicine IV, Osaka Medical and Pharmaceutical University, Japan.
Osaka University of Pharmaceutical Sciences · JPKagoshima University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1), the most common form of CMTX, is caused by gap-junction beta 1 (GJB1) mutations. We herein report a 25-year-old Japanese man with disorientation, right hemiparesis, and dysarthria. Brain magnetic resonance imaging (MRI) showed high signal intensities in the bilateral cerebral white matter on diffusion-weighted imaging. He had experienced 2 episodes of transient central nervous system symptoms (at 7 and 13 years old). A genetic analysis identified a novel GJB1 mutation, c.169C>T, p.Gln57*. MRI abnormalities shifted from the cerebral white matter to the corpus callosum and had disappeared at the five-month follow-up. Transient changes between these lesions may indicate CMTX1.

Indexed as

Charcot-Marie-Tooth DiseaseGenetic Diseases, X-LinkedWhite MatterAdolescentAdultChildConnexinsGap Junction beta-1 ProteinHumansMaleMutationConnexinsGap Junction beta-1 Proteingene mutationGJB1MRI abnormalityX-linked Charcot-Marie-Tooth disease type 1

Identifiers

PMID37407465
PMCPMC10937141
OpenAlexW4383113043

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.