Evidence map›Paper›PMID 36686280›Full record

ArticleNeurology. Genetics2023

High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.

Alexander G Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W Ironside, Patrick F Chinnery

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

Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.8field-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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Neuropathologically-directed profiling ofbioRxiv : the preprint server for biology · 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

7 authors at 1 institution in 3 countries.

Alexander G MurleyDepartment of Clinical Neurosciences (A.G.M., Y.N., Z.G., M.J.K., C.), School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus; Medical Research Council Mitochondrial Biology Unit (Y.N., Z.G.), University of Cambridge, Cambridge Biomedical Campus; Translational and Clinical Research Institute (M.J.K., P.F.C.), Newcastle University, Newcastle Upon Tyne; and Centre for Clinical Brain Sciences (C.S., J.W.I.), University of Edinburgh, Cambridge, UK.ORCID https://orcid.org/0000-0003-0813-0670
Yu NieDepartment of Clinical Neurosciences (A.G.M., Y.N., Z.G., M.J.K., C.), School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus; Medical Research Council Mitochondrial Biology Unit (Y.N., Z.G.), University of Cambridge, Cambridge Biomedical Campus; Translational and Clinical Research Institute (M.J.K., P.F.C.), Newcastle University, Newcastle Upon Tyne; and Centre for Clinical Brain Sciences (C.S., J.W.I.), University of Edinburgh, Cambridge, UK.
Zoe GolderDepartment of Clinical Neurosciences (A.G.M., Y.N., Z.G., M.J.K., C.), School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus; Medical Research Council Mitochondrial Biology Unit (Y.N., Z.G.), University of Cambridge, Cambridge Biomedical Campus; Translational and Clinical Research Institute (M.J.K., P.F.C.), Newcastle University, Newcastle Upon Tyne; and Centre for Clinical Brain Sciences (C.S., J.W.I.), University of Edinburgh, Cambridge, UK.
Michael John KeoghDepartment of Clinical Neurosciences (A.G.M., Y.N., Z.G., M.J.K., C.), School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus; Medical Research Council Mitochondrial Biology Unit (Y.N., Z.G.), University of Cambridge, Cambridge Biomedical Campus; Translational and Clinical Research Institute (M.J.K., P.F.C.), Newcastle University, Newcastle Upon Tyne; and Centre for Clinical Brain Sciences (C.S., J.W.I.), University of Edinburgh, Cambridge, UK.
Colin SmithDepartment of Clinical Neurosciences (A.G.M., Y.N., Z.G., M.J.K., C.), School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus; Medical Research Council Mitochondrial Biology Unit (Y.N., Z.G.), University of Cambridge, Cambridge Biomedical Campus; Translational and Clinical Research Institute (M.J.K., P.F.C.), Newcastle University, Newcastle Upon Tyne; and Centre for Clinical Brain Sciences (C.S., J.W.I.), University of Edinburgh, Cambridge, UK.
James W IronsideDepartment of Clinical Neurosciences (A.G.M., Y.N., Z.G., M.J.K., C.), School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus; Medical Research Council Mitochondrial Biology Unit (Y.N., Z.G.), University of Cambridge, Cambridge Biomedical Campus; Translational and Clinical Research Institute (M.J.K., P.F.C.), Newcastle University, Newcastle Upon Tyne; and Centre for Clinical Brain Sciences (C.S., J.W.I.), University of Edinburgh, Cambridge, UK.
Patrick F ChinneryDepartment of Clinical Neurosciences (A.G.M., Y.N., Z.G., M.J.K., C.), School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus; Medical Research Council Mitochondrial Biology Unit (Y.N., Z.G.), University of Cambridge, Cambridge Biomedical Campus; Translational and Clinical Research Institute (M.J.K., P.F.C.), Newcastle University, Newcastle Upon Tyne; and Centre for Clinical Brain Sciences (C.S., J.W.I.), University of Edinburgh, Cambridge, UK.
University of Cambridge · GB

Funding

Medical Research Council MC_PC_13047Medical Research Council MC_UP_1501/2Medical Research Council MC_UU_00015/7Medical Research Council MC_UU_00015/9Medical Research Council MC_UU_00028/7Medical Research Council MR/M008886/1Medical Research Council MR/S005021/1Medical Research Council MR/S035699/1
6 · The paper itself

Abstract

Background and Objectives: Sporadic Creutzfeldt-Jakob disease (sCJD) has established genetic risk factors, but, in contrast to genetic and acquired CJD, the initial trigger for misfolded prion aggregation and spread is not known. In this study, we tested the hypotheses that pathologic somatic variants in the prion gene Methods: High-depth amplicon-based short read sequencing of the Results: Two sCJD cases had somatic (variant allele frequency 0.5-1%) Discussion: Somatic variants in

Identifiers

PMID36686280
PMCPMC9853313
OpenAlexW4317469281

What OpenQuestion holds

Textmetadata
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.