Evidence map›Paper›PMID 32775019›Full record

SynthesisTremor and other hyperkinetic movements (New York, N.Y.)2020

Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data.

Dimitrios Rikos, Chrysoula Marogianni, Antonios Provatas, Thomas Bourinaris, Marianthi Arnaoutoglou, Pantelis Stathis, George P Patrinos, Efthimios Dardiotis, George M Hadjigeorgiou, Georgia Xiromerisiou

Open access · goldAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Tremor and other hyperkinetic movements (New York, N.Y.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 49% 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, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Frontiers in genetics · 2020
    Pooled it
  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

10 authors at 6 institutions in 5 countries.

Dimitrios RikosUniversity of Thessaly, University Hospital of Larissa, Neurology Department, Larissa, GR.
Chrysoula MarogianniUniversity of Thessaly, University Hospital of Larissa, Neurology Department, Larissa, GR.
Antonios ProvatasUniversity of Thessaly, University Hospital of Larissa, Neurology Department, Larissa, GR.
Thomas BourinarisDepartment of Molecular Neuroscience Institute of Neurology, University College London, London, UK.
Marianthi ArnaoutoglouFirst Neurology Clinic, AHEPA Hospital, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, GR.
Pantelis StathisDepartment of Neurology, Mediterraneo Hospital, Athens, GR.
George P PatrinosUniversity of Patras School of Health Sciences, Department of Pharmacy, Patras, GR.
Efthimios DardiotisUniversity of Thessaly, University Hospital of Larissa, Neurology Department, Larissa, GR.
George M HadjigeorgiouDepartment of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, GR.
Georgia XiromerisiouUniversity of Thessaly, University Hospital of Larissa, Neurology Department, Larissa, GR.
University of Thessaly · GRUniversity Hospital of Larissa · GRAristotle University of Thessaloniki · GRNeuroscience Institute · ITUnited Arab Emirates University · AEUniversity of Cyprus · CY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Several European studies examined the role of C9orf72 repeat expansion in patients with Huntington-disease like phenotypes (HD-L). The scope of our study is to investigate the expansion frequency in a Greek HD-L cohort and the meta-analysis of all published cases. This will be of use in genetic counseling of these cases. Methods: A cohort of 74 patients with HD-L and 67 healthy controls were screened for the C9orf72 expansion status. Case-controls comparison was assessed with the Pearson's chi-square statistic for a 2 × 2 table.A systematic database search was conducted and seven studies, including the current study, were considered eligible for inclusion in a meta-analysis considering a total of 812 patients with HD phenocopies. Pooled mutation frequency was calculated using a Random Effects model or the Mantel-Haezsel fixed effects model, depending on the observed heterogeneity. Results: In our cohort, one patient was found to have a pathologic expansion of C9orf72, and none from the control group (chi-square: 0.91, p-value: 0.34). Pooled mutation frequency was found at 2% (CI: 1-3%) with low heterogeneity (I Discussion: Based on this meta-analysis the recommendation for genetic testing for C9orf72 expansions is further solidified.

Indexed as

C9orf72 ProteinCase-Control StudiesDNA Repeat ExpansionFemaleGenetic TestingGreeceHeredodegenerative Disorders, Nervous SystemHumansMaleMiddle AgedC9orf72 ProteinC9orf72HD-like phenocopiesHuntington diseasemeta-analysis

Identifiers

PMID32775019
PMCPMC7394208
OpenAlexW3034330793

What OpenQuestion holds

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LicenceCC BY
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.