Evidence map›Paper›PMID 34148957›Full record

ArticleInternal medicine (Tokyo, Japan)2021

Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening.

Sho Aoki, Kazuaki Nagashima, Makoto Shibata, Hiroo Kasahara, Yukio Fujita, Akihiro Hashiguchi, Hiroshi Takashima, Yoshio Ikeda

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

Article in Internal medicine (Tokyo, Japan), 2021. 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 56% 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, 2 citations in OpenAlex.

  1. 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.

Sho AokiDepartment of Neurology, Gunma University Graduate School of Medicine, Japan.
Kazuaki NagashimaDepartment of Neurology, Gunma University Graduate School of Medicine, Japan.
Makoto ShibataDepartment of Neurology, Gunma University Graduate School of Medicine, Japan.
Hiroo KasaharaDepartment of Neurology, Gunma University Graduate School of Medicine, Japan.
Yukio FujitaDepartment of Neurology, Gunma University Graduate School of Medicine, Japan.
Akihiro HashiguchiDepartment 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 IkedaDepartment of Neurology, Gunma University Graduate School of Medicine, Japan.
Gunma University · JPKagoshima University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation. CMT4H is characterized by an early onset, slow progression, scoliosis, distal muscle atrophy, and foot deformities. We herein present sibling cases of CMT4H with a homozygous mutation in the FGD4 gene. Both patients exhibited cauda equina thickening on magnetic resonance imaging, which had not been reported among the previous CMT4H cases. This is the first report of CMT4H with a homozygous FGD4 c.1730G>A (p.Arg577Gln) mutation showing mild progression and cauda equina thickening.

Indexed as

Cauda EquinaCharcot-Marie-Tooth DiseaseHumansMicrofilament ProteinsMutationPedigreePhenotypeSiblingsFGD4 protein, humanMicrofilament Proteinsautosomal recessivecauda equina thickeningCharcot-Marie-Tooth disease type 4HFGD4

Identifiers

PMID34148957
PMCPMC8758460
OpenAlexW3173330815

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.