Evidence map›Paper›PMID 36880414›Full record

ArticleJournal of veterinary internal medicine2023

A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions.

Matthias Christen, Veronica Gonzalo-Nadal, Adriana Kaczmarska, Magdalena Dyrka, Julien Guevar, Vidhya Jagannathan, Tosso Leeb, Rodrigo Gutierrez-Quintana

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of veterinary internal medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.8field-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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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

8 authors at 2 institutions in 2 countries.

Matthias ChristenInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Veronica Gonzalo-NadalSmall Animal Hospital, School of Biodiversity, One Health and Veterinary Medicine, University of Glasgow, Glasgow, UK.
Adriana KaczmarskaSmall Animal Hospital, School of Biodiversity, One Health and Veterinary Medicine, University of Glasgow, Glasgow, UK.
Magdalena DyrkaSmall Animal Hospital, School of Biodiversity, One Health and Veterinary Medicine, University of Glasgow, Glasgow, UK.
Julien GuevarDepartment of Clinical Veterinary Sciences, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Vidhya JagannathanInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Tosso LeebInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.ORCID https://orcid.org/0000-0003-0553-4880
Rodrigo Gutierrez-QuintanaSmall Animal Hospital, School of Biodiversity, One Health and Veterinary Medicine, University of Glasgow, Glasgow, UK.ORCID https://orcid.org/0000-0002-3570-2542
University of Bern · CHUniversity of Glasgow · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

case descriptionA 9-month-old intact male domestic shorthair cat was evaluated for increasing frequency of generalized tonic-clonic seizures. CLINICAL

findingsThe cat was reported to have had episodes of circling between the seizures. Upon examination, the cat had bilateral inconsistent menace response but otherwise normal physical and neurological examinations. DIAGNOSTICS: Magnetic resonance imaging (MRI) of the brain identified multifocal, small, rounded intra-axial lesions within the subcortical white matter containing fluid with similar characteristics as cerebrospinal fluid. Evaluation of urine organic acids showed increased excretion of 2-hydroxyglutaric acid. An XM_023255678.2:c.397C>T nonsense variant in the L2HGDH gene encoding L-2-hydroxyglutarate dehydrogenase was identified using whole genome sequencing. TREATMENT AND OUTCOME: Levetiracetam treatment was initiated at 20 mg/kg PO q8h, but the cat died after a seizure 10 days later. CLINICAL RELEVANCE: We report the second pathogenic gene variant in L-2-hydroxyglutaric aciduria in cats and describe for the first time multicystic cerebral lesions on MRI.

Indexed as

Brain Diseases, Metabolic, InbornCat DiseasesAlcohol OxidoreductasesAnimalsBrainCatsGlutaratesMagnetic Resonance ImagingMaleMutation, MissenseSeizuresAlcohol OxidoreductasesGlutaratesanimal modelFelis catusgeneticsglutaric acidurianeurologyprecision medicine

Identifiers

PMID36880414
PMCPMC10061192
OpenAlexW4323348636

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.