Evidence map›Paper›PMID 40022154›Full record

ArticleOrphanet journal of rare diseases2025

Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development.

Noriko Otsuki, Tamaki Kato, Mamoru Yokomura, Mari Urano, Mari Matsuo, Emiko Kobayashi, Kazuhiro Haginoya, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. 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
–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

1 citing paper in PubMed.

  1. Biomarkers in spinal muscular atrophy.Frontiers in neurology · 2025
    Review
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.

Noriko OtsukiInstitute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Tamaki KatoInstitute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Mamoru YokomuraInstitute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Mari UranoInstitute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Mari MatsuoInstitute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Emiko KobayashiDepartment of Pediatrics, Gifu Prefectural General Medical Center, 4-6-1 Noisshiki, Gifu City, Gifu, 500-8717, Japan.
Kazuhiro HaginoyaDepartment of Pediatric Neurology, Miyagi Children's Hospital, 4-3-17 Ochiai, Aoba-ku, Sendai City, Miyagi, 989-3126, Japan.
Hiroyuki AwanoDepartment of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe City, Hyogo, 650-0017, Japan.
Yasuhiro TakeshimaDepartment of Pediatrics, Hyogo Medical University, 1-1 Mukogawacho, Nishinomiya City, Hyogo, 663-8501, Japan.
Toshio SaitoDivision of Child Neurology, Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, 5-1-1 Toneyama, Toyonaka City, Osaka, 560-8552, Japan.
Kayoko SaitoInstitute of Medical Genetics, Tokyo Women's Medical University, 8-1 Kawadacho, Shinjuku-ku, Tokyo, 162-8666, Japan. saito.kayoko@twmu.ac.jp.ORCID http://orcid.org/0000-0003-2632-0873

Funding

Ministry of Health, Labour and Welfare JPMH23FC1008Practical Research Project for Rare/Intractable Diseases of the Japan Agency for Medical Research and Development, AMED 20ek0109472h0001Practical Research Project for Rare/Intractable Diseases of the Japan Agency for Medical Research and Development, AMED 21ek0109472h0002Practical Research Project for Rare/Intractable Diseases of the Japan Agency for Medical Research and Development, AMED 22ek0109472h0003
6 · The paper itself

Abstract

backgroundSpinal muscular atrophy (SMA) is a severe genetic neuromuscular disease caused by insufficient functional survival motor neuron protein (SMN). The SMN expression level in the spinal cord is highest during the 2nd trimester of the foetal period. We previously reported the SMN spot analysis in peripheral blood using imaging flow cytometry (IFC) as a biomarker of functional SMN protein expression. In this study, we analysed neonatal cord blood, postnatal peripheral blood, and maternal peripheral blood in presymptomatic five infants whose sibling has type 1 SMA to estimate prenatal and postnatal SMN dynamics before the onset of severe SMA.

resultsData from 37 untreated patients with SMA showed that SMN-spot

conclusionsThis study suggests that the status of the motor neuron pool in the spinal cord can be presumed by cord blood SMN-spot

Indexed as

Fetal BloodMuscular Atrophy, SpinalSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinFemaleHumansInfant, NewbornMaleSMN2 protein, humanSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinCord bloodDisease-modifying therapyImaging flow cytometryNewborn screeningNusinersenOnasemnogene abeparvovecRisdiplamSMN spot analysisSpinal muscular atrophySurvival motor neuron

Identifiers

PMID40022154
PMCPMC11869478

What Socratic 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 Socratic graph.