Evidence map›Paper›PMID 33592356›Full record

ArticleEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2021

Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.

Kuntal Sen, George Grahame, Jirair K Bedoyan, Andrea L Gropman

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

Article in European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 45% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Case Report: A novel hemizygous missenseFrontiers in pediatrics · 2024
    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

4 authors at 2 institutions in 1 country.

Kuntal SenDivision of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington DC, USA. Electronic address: ksen2@childrensnational.org.
George GrahameCenter for Inherited Disorders of Energy Metabolism, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
Jirair K BedoyanCenter for Inherited Disorders of Energy Metabolism, University Hospitals Cleveland Medical Center, Cleveland, OH, USA; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, USA; Department of Pediatrics, Case Western Reserve University, Cleveland, USA.
Andrea L GropmanDivision of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington DC, USA.
Children's National · USUniversity Hospitals of Cleveland · US

Funding

The North American Mitochondrial Disease Consortium (NAMDC)U54NS078059 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HIRANO, MICHIO · 2011 to 2023
$17.5M
NINDS NIH HHS U54 NS078059
6 · The paper itself

Abstract

We report a 5-year-old male with a PDHA1 variant who presented with alternating hemiplegia of childhood and later developed developmental regression, basal ganglia injury and episodic lactic acidosis. Enzyme assay in lymphocytes confirmed a diagnosis of Pyruvate Dehydrogenase Complex (PDC) deficiency. His mother who was heterozygous for the same variant suffered from ophthalmoplegia, chronic migraine and developed flaccid paralysis at 36 years of age. PDHA1 is the most common genetic cause of PDC deficiency and presents with a myriad of neurological phenotypes including neonatal form with lactic acidosis, non-progressive infantile encephalopathy, Leigh syndrome subtype and intermittent ataxia. The presentations in our 2 patients contribute to the clinical heterogeneity of this neurogenetic condition.

Indexed as

MothersAdultChild, PreschoolFemaleGuillain-Barre SyndromeHemiplegiaHemizygoteHeterozygoteHumansMaleParaplegiaPedigreePhenotypePyruvate Dehydrogenase Complex Deficiency DiseasePyruvate Dehydrogenase (Lipoamide)Pyruvate Dehydrogenase (Lipoamide)

Identifiers

PMID33592356
PMCPMC9745742
OpenAlexW3123877100

What OpenQuestion holds

Textmetadata
LicenceTDM
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.