Evidence map›Paper›PMID 27793473›Full record

ArticleNeurobiology of aging2017

Analysis of the prion protein gene in multiple system atrophy.

Viorica Chelban, Andreea Manole, Lasse Pihlstrøm, Lucia Schottlaender, Stephanie Efthymiou, Emer OConnor, Wassilios G Meissner, Janice L Holton, Henry Houlden

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

Article in Neurobiology of aging, 2017. 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
0.5field-weighted citation impact, top 28% 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, 7 citations in OpenAlex.

  1. Is Multiple System Atrophy a Prion-like Disorder?International journal of molecular sciences · 2021
    Review
  2. Article
  3. Review
  4. Multiple System Atrophy - State of the Art.Current neurology and neuroscience reports · 2017
    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

9 authors at 4 institutions in 4 countries.

Viorica ChelbanDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Department of Neurology, Medical and Pharmaceutical State University N. Testemitanu, Chisinau, Moldova. Electronic address: v.chelban@ucl.ac.uk.
Andreea ManoleDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
Lasse PihlstrømDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Lucia SchottlaenderDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
Stephanie EfthymiouDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
Emer OConnorDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
Wassilios G MeissnerUniv. de Bordeaux, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France; CNRS, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France; Centre de référence atrophie multisystématisée, CHU de Bordeaux, Bordeaux, France.
Janice L HoltonDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Reta Lila Weston Institute of Neurological Studies and Queen Square Brain Bank for Neurological Disorders, London, UK.
Henry HouldenDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
National Hospital for Neurology and Neurosurgery · GBCentre National de la Recherche Scientifique · FRNicolae Testemițanu State University of Medicine and Pharmacy · MDUniversity of Oslo · NO

Funding

Medical Research Council G0802760Medical Research Council G1001253Medical Research Council G108/638Medical Research Council MR/J004758/1Medical Research Council MR/L016400/1Wellcome TrustWellcome Trust 104033
6 · The paper itself

Abstract

Neurodegenerative diseases are a very diverse group of disorders but they share some common mechanisms such as abnormally misfolded proteins with prion-like propagation and aggregation. Creutzfeldt-Jakob disease (CJD) is the most prevalent prion disease in humans. In the sporadic form of CJD the only known risk factor is the codon 129 polymorphism. Recent reports suggested that α-synuclein in multiple system atrophy (MSA) has similar pathogenic mechanisms as the prion protein. Here we present 1 Italian family with MSA and prion disease. Also, cases of concurrent MSA and prion pathology in the same individual or family suggest the possibility of molecular interaction between prion protein and α-synuclein in the process of protein accumulation and neurodegeneration, warranting further investigations. We assessed the PRNP gene by whole-exome sequencing in 264 pathologically confirmed MSA cases and 462 healthy controls to determine whether the 2 diseases share similar risk factors. We then analyzed codon 129 polymorphism by Sanger sequencing and compared with previously published results in sporadic CJD. Homozygosity at codon 129 was present in 50% of pathologically confirmed MSA cases and in 58% of normal controls (odds ratio, 0.7 (95% confidence interval of 0.5-0.9)) compared with 88.2% in sporadic CJD. Our data show that the homozygous state of position 129 in the PRNP is not a risk factor for MSA. No other variants in the PRNP gene were associated with increased risk for MSA.

Indexed as

Genetic Association Studiesalpha-SynucleinBrainCodonEpistasis, GeneticExomeFemaleHomozygoteHumansMagnetic Resonance ImagingMaleMultiple System AtrophyPolymorphism, GeneticPrion ProteinsRisk FactorsSequence Analysis, DNAalpha-SynucleinCodonPrion ProteinsPRNP protein, humanMultiple system atrophyPrion diseasePrion proteinPRNPSporadic Creutzfeld-Jakob disease

Identifiers

PMID27793473
PMCPMC5156473
OpenAlexW2527778290

What OpenQuestion holds

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LicenceCC BY
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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.