Evidence map›Paper›PMID 37034444›Full record

ArticleTremor and other hyperkinetic movements (New York, N.Y.)2023

Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.

Luiz Felipe Vasconcellos, Vinicius Pinheiro Soares, Lucas Leroux de Ricchezza

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

Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 31% 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

3 citing papers in PubMed, 1 citations in OpenAlex.

  1. Article
  2. A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026
    Article
  3. 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

3 authors at 1 institution in 1 country.

Luiz Felipe VasconcellosInstitute of Neurology Deolindo Couto -Federal University of Rio de Janeiro, BR.ORCID 0000-0001-9080-7833
Vinicius Pinheiro SoaresInstitute of Neurology Deolindo Couto -Federal University of Rio de Janeiro, BR.
Lucas Leroux de RicchezzaInstitute of Neurology Deolindo Couto -Federal University of Rio de Janeiro, BR.ORCID 0000-0002-8576-918X
Universidade Federal do Rio de Janeiro · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Cerebral palsy (CP) should not be considered a Case report: 24-years-old man with dystonia and delayed motor and cognitive development had been previously diagnosed with CP. Molecular genetic testing identified a heterozygosity variant in GNAO 1 gene. A therapeutic trial with levodopa was started, with improvement of dystonia. Discussion: GNAO1 gene variant disorders share similarities with other causes of CP syndrome, and thus investigation of this variant should be included in instances of CP syndrome without a clear history of previous perinatal brain injury. GNAO1 dystonic phenotype (DYT-GNAO1) should be considered as dopa-responsive dystonia in some cases.

Indexed as

Cerebral PalsyDopamine AgentsGTP-Binding Protein alpha Subunits, Gi-GoLevodopaDystoniaHeterozygoteHumansMalePhenotypeYoung AdultDopamine AgentsGNAO1 protein, humanGTP-Binding Protein alpha Subunits, Gi-GoLevodopacerebral palsydystoniageneticGNAO

Identifiers

PMID37034444
PMCPMC10077974
OpenAlexW4362501850

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.