Evidence map›Paper›PMID 30569017›Full record

ArticleNeurology. Genetics2018

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in

Dimitri M Hemelsoet, Arnaud V Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Bjorn Menten, Rudy Van Coster

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

Article in Neurology. Genetics, 2018. 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
0.1field-weighted citation impact, top 50% 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, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

10 authors at 1 institution in 1 country.

Dimitri M HemelsoetDepartment of Neurology (D.M.H.), Ghent University Hospital; Department of Pediatrics (A.V.V., J.S., E.V., R.V.C.), Division of Pediatric Neurology and Metabolism, Ghent University Hospital; Department of Radiology (M.A.), Ghent University Hospital; Department of Nuclear Medicine (I.G.), Ghent University Hospital; Center for Medical Genetics Ghent (T.S., B.M.), Ghent University, Belgium; and Center for Medical Genetics (S.S.), UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
Arnaud V VanlanderDepartment of Neurology (D.M.H.), Ghent University Hospital; Department of Pediatrics (A.V.V., J.S., E.V., R.V.C.), Division of Pediatric Neurology and Metabolism, Ghent University Hospital; Department of Radiology (M.A.), Ghent University Hospital; Department of Nuclear Medicine (I.G.), Ghent University Hospital; Center for Medical Genetics Ghent (T.S., B.M.), Ghent University, Belgium; and Center for Medical Genetics (S.S.), UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
Joél SmetDepartment of Neurology (D.M.H.), Ghent University Hospital; Department of Pediatrics (A.V.V., J.S., E.V., R.V.C.), Division of Pediatric Neurology and Metabolism, Ghent University Hospital; Department of Radiology (M.A.), Ghent University Hospital; Department of Nuclear Medicine (I.G.), Ghent University Hospital; Center for Medical Genetics Ghent (T.S., B.M.), Ghent University, Belgium; and Center for Medical Genetics (S.S.), UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
Elise VantroysDepartment of Neurology (D.M.H.), Ghent University Hospital; Department of Pediatrics (A.V.V., J.S., E.V., R.V.C.), Division of Pediatric Neurology and Metabolism, Ghent University Hospital; Department of Radiology (M.A.), Ghent University Hospital; Department of Nuclear Medicine (I.G.), Ghent University Hospital; Center for Medical Genetics Ghent (T.S., B.M.), Ghent University, Belgium; and Center for Medical Genetics (S.S.), UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
Marjan AcouDepartment of Neurology (D.M.H.), Ghent University Hospital; Department of Pediatrics (A.V.V., J.S., E.V., R.V.C.), Division of Pediatric Neurology and Metabolism, Ghent University Hospital; Department of Radiology (M.A.), Ghent University Hospital; Department of Nuclear Medicine (I.G.), Ghent University Hospital; Center for Medical Genetics Ghent (T.S., B.M.), Ghent University, Belgium; and Center for Medical Genetics (S.S.), UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
Ingeborg GoethalsDepartment of Neurology (D.M.H.), Ghent University Hospital; Department of Pediatrics (A.V.V., J.S., E.V., R.V.C.), Division of Pediatric Neurology and Metabolism, Ghent University Hospital; Department of Radiology (M.A.), Ghent University Hospital; Department of Nuclear Medicine (I.G.), Ghent University Hospital; Center for Medical Genetics Ghent (T.S., B.M.), Ghent University, Belgium; and Center for Medical Genetics (S.S.), UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
Tom SanteDepartment of Neurology (D.M.H.), Ghent University Hospital; Department of Pediatrics (A.V.V., J.S., E.V., R.V.C.), Division of Pediatric Neurology and Metabolism, Ghent University Hospital; Department of Radiology (M.A.), Ghent University Hospital; Department of Nuclear Medicine (I.G.), Ghent University Hospital; Center for Medical Genetics Ghent (T.S., B.M.), Ghent University, Belgium; and Center for Medical Genetics (S.S.), UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
Sara SenecaDepartment of Neurology (D.M.H.), Ghent University Hospital; Department of Pediatrics (A.V.V., J.S., E.V., R.V.C.), Division of Pediatric Neurology and Metabolism, Ghent University Hospital; Department of Radiology (M.A.), Ghent University Hospital; Department of Nuclear Medicine (I.G.), Ghent University Hospital; Center for Medical Genetics Ghent (T.S., B.M.), Ghent University, Belgium; and Center for Medical Genetics (S.S.), UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
Bjorn MentenDepartment of Neurology (D.M.H.), Ghent University Hospital; Department of Pediatrics (A.V.V., J.S., E.V., R.V.C.), Division of Pediatric Neurology and Metabolism, Ghent University Hospital; Department of Radiology (M.A.), Ghent University Hospital; Department of Nuclear Medicine (I.G.), Ghent University Hospital; Center for Medical Genetics Ghent (T.S., B.M.), Ghent University, Belgium; and Center for Medical Genetics (S.S.), UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
Rudy Van CosterDepartment of Neurology (D.M.H.), Ghent University Hospital; Department of Pediatrics (A.V.V., J.S., E.V., R.V.C.), Division of Pediatric Neurology and Metabolism, Ghent University Hospital; Department of Radiology (M.A.), Ghent University Hospital; Department of Nuclear Medicine (I.G.), Ghent University Hospital; Center for Medical Genetics Ghent (T.S., B.M.), Ghent University, Belgium; and Center for Medical Genetics (S.S.), UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
Ghent University Hospital · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo report the clinical, radiologic, biochemical, and molecular characteristics in a 46-year-old participant with adult-onset Leigh syndrome (LS), followed by parkinsonism.

methodsCase description with diagnostic workup included blood and CSF analysis, skeletal muscle investigations, blue native polyacrylamide gel electrophoresis, whole exome sequencing targeting nuclear genes involved in mitochondrial transcription and translation, cerebral MRI, 123I-FP-CIT brain single-photon emission computed tomography (SPECT), and C-11 raclopride positron emission tomography (PET).

resultsThe participant was found to have a defect in the oxidative phosphorylation caused by a c.626C>T mutation in the gene coding for mitochondrial methionyl-tRNA formyltransferase (

conclusionsWe report on a case with adult-onset LS related to a

Identifiers

PMID30569017
PMCPMC6278240
OpenAlexW2902870458

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.