Evidence map›Paper›PMID 40456722›Full record

ArticleHuman genome variation2025

A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant.

Shiroh Miura, Seria Suenaga, Hana Goto, Zhaonan Wang, Akane Makino, Luoming Fan, Kensuke Senzaki, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2025. 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
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.

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

10 authors.

Shiroh MiuraDepartment of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Toon, Japan. shiroh46@m.ehime-u.ac.jp.ORCID http://orcid.org/0000-0003-2409-8404
Seria SuenagaDivision of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
Hana GotoDepartment of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Toon, Japan.
Zhaonan WangDivision of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
Akane MakinoDepartment of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Toon, Japan.
Luoming FanDivision of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
Kensuke SenzakiDepartment of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Toon, Japan.
Masayuki OchiDepartment of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Toon, Japan.
Yasumasa OhyagiDepartment of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Toon, Japan.
Hiroki ShibataDivision of Genomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.ORCID http://orcid.org/0000-0001-7623-7969

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spastic paraplegia (SPG)10 is an autosomal dominant SPG caused by kinesin family member 5A (KIF5A) gene variants. We describe a Japanese patient with SPG whose deceased mother and maternal uncle also exhibited SPG. Exome analysis identified a rare KIF5A nonsense variant (NM_004984.4:c.2590C>T (p.Arg864Ter)) in the patient, regarded as pathogenic. As KIF5A mRNA expression was significantly decreased compared with that of a healthy control, the variant was deemed causative of SPG.

Identifiers

PMID40456722
PMCPMC12130483

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.