Evidence map›Paper›PMID 29681622›Full record

ArticleTranslational psychiatry2018

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

Clare L van Eyk, Mark A Corbett, Alison Gardner, Bregje W van Bon, Jessica L Broadbent, Kelly Harper, Alastair H MacLennan, Jozef Gecz

Open access · goldAbstract read
In one paragraph

Article in Translational psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
2.6field-weighted citation impact, top 10% 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

19 citing papers in PubMed, 31 citations in OpenAlex.

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  8. Dysregulation of multiple signaling pathways: A possible cause of cerebral palsy.Experimental biology and medicine (Maywood, N.J.) · 2022
    Review
  9. Review
  10. Review
  11. Article
  12. Genetic testing in individuals with cerebral palsy.Developmental medicine and child neurology · 2021
    Article
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  15. Article
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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 3 institutions in 2 countries.

Clare L van EykAdelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.
Mark A CorbettAdelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.
Alison GardnerAdelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.
Bregje W van BonDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Jessica L BroadbentRobinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.
Kelly HarperRobinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.
Alastair H MacLennanRobinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.
Jozef GeczAdelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia. jozef.gecz@adelaide.edu.au.ORCID http://orcid.org/0000-0002-7884-6861
The University of Adelaide · AURadboud University Nijmegen · NLSouth Australian Health and Medical Research Institute · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cerebral palsy (CP) is the most common motor disability of childhood. It is characterised by permanent, non-progressive but not unchanging problems with movement, posture and motor function, with a highly heterogeneous clinical spectrum and frequent neurodevelopmental comorbidities. The aetiology of CP is poorly understood, despite recent reports of a genetic contribution in some cases. Here we demonstrate transcriptional dysregulation of trophic signalling pathways in patient-derived cell lines from an unselected cohort of 182 CP-affected individuals using both differential expression analysis and weighted gene co-expression network analysis (WGCNA). We also show that genes differentially expressed in CP, as well as network modules significantly correlated with CP status, are enriched for genes associated with ASD. Combining transcriptome and whole exome sequencing (WES) data for this CP cohort likely resolves an additional 5% of cases separated to the 14% we have previously reported as resolved by WES. Collectively, these results support a convergent molecular abnormality in CP and ASD.

Indexed as

Signal TransductionTranscriptomeAutism Spectrum DisorderCell LineCerebral PalsyCohort StudiesExome SequencingFemaleGene Expression ProfilingGene Expression Regulation, DevelopmentalGene Regulatory NetworksGenetic Predisposition to DiseaseHumansMaleMembrane GlycoproteinsReceptor, Fibroblast Growth Factor, Type 1FGFR1 protein, humanMembrane GlycoproteinsReceptor, Fibroblast Growth Factor, Type 1Receptor, trkBtropomyosin-related kinase-B, human

Identifiers

PMID29681622
PMCPMC5911435
OpenAlexW2801144907

What OpenQuestion holds

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Registered trials

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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.