Evidence map›Paper›PMID 32522921›Full record

ArticleInternal medicine (Tokyo, Japan)2020

A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene.

Haitian Nan, Kensho Okamoto, Lihua Gao, Yuto Morishima, Yuta Ichinose, Kishin Koh, Masaki Hashiyada, Noboru Adachi, Yoshihisa Takiyama

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

Article in Internal medicine (Tokyo, Japan), 2020. 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
0.1field-weighted citation impact, top 61% 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. A novel variant ofAnnals of translational medicine · 2022
    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

9 authors at 3 institutions in 1 country.

Haitian NanDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.
Kensho OkamotoDepartment of Neurology, Ehime Prefectural Central Hospital, Japan.
Lihua GaoDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.
Yuto MorishimaDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.
Yuta IchinoseDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.
Kishin KohDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.
Masaki HashiyadaDepartment of Legal Medicine, Kansai Medical University, Japan.
Noboru AdachiDepartment of Legal Medicine, Graduate School of Medical Sciences, University of Yamanashi, Japan.
Yoshihisa TakiyamaDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Japan.
University of Yamanashi · JPEhime Prefectural Central Hospital · JPKansai Medical University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spastic paraplegia type 4 (SPG4) is caused by mutations of the SPAST gene and is the most common form of autosomal-dominantly inherited pure hereditary spastic paraplegia (HSP). We herein report a Japanese patient with SPG4 with a confirmed de novo mutation of SPAST. On exome sequencing and Sanger sequencing, we identified the heterozygous missense mutation p.R460L in the SPAST gene. This mutation was absent in the parents, and the paternity and maternity of the parents were both confirmed. The patient showed a pure SPG4 phenotype with an infantile onset. This study may expand the clinical and genetic findings for SPG4.

Indexed as

FemaleHeterozygoteHumansJapanMutationParaplegiaPhenotypeSpastic Paraplegia, HereditarySpastinYoung AdultSpastinSPAST protein, humande novo mutationhereditary spastic paraplegiaJapaneseSPASTSPG4

Identifiers

PMID32522921
PMCPMC7578612
OpenAlexW3033139873

What OpenQuestion holds

Textmetadata
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.