Evidence map›Paper›PMID 27776828›Full record

ArticleNeurobiology of aging2017

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.

Imelda S Barber, Anne Braae, Naomi Clement, Tulsi Patel, Tamar Guetta-Baranes, Keeley Brookes, Christopher Medway, Sally Chappell, Rita Guerreiro, Jose Bras and 6 more

Abstract read
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 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
–field-weighted citation impact
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

20 citing papers in PubMed.

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  14. Early-Onset Alzheimer's Disease: What Is Missing in Research?Current neurology and neuroscience reports · 2021
    Review
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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

16 authors.

Imelda S BarberSchool of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK. Electronic address: imelda.barber@psych.ox.ac.uk.
Anne BraaeSchool of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Naomi ClementSchool of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Tulsi PatelSchool of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Tamar Guetta-BaranesSchool of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Keeley BrookesSchool of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Christopher MedwaySchool of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Sally ChappellSchool of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Rita GuerreiroDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Jose BrasDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Dena HernandezLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Andrew SingletonLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
John HardyDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
David M MannFaculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK.
ARUK Consortium
Kevin MorganSchool of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.

Funding

Genetic Analysis Of Alzheimer s DiseaseZIAAG000950 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2019
$6.9M
Genetic Analysis Of Alzheimer's DiseaseZ01AG000950 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2002 to 2008
$1.0M
Intramural NIH HHS Z01 AG000950Medical Research Council G0400074Medical Research Council G0502157Medical Research Council G0701075Medical Research Council G0900652Medical Research Council G0901254Medical Research Council G1001253Medical Research Council G1100540Medical Research Council MR/J004758/1Medical Research Council MR/K01417X/1Medical Research Council MR/L501542/1Parkinson's UK G-1307
6 · The paper itself

Abstract

We have screened sporadic early-onset Alzheimer's disease (sEOAD, n = 408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease; p.T240M (n = 1) and p.Q34fs delAG (n = 1). In addition, we identified 3 sEOAD individuals harboring a predicted pathogenic variant in MAPT (p.A469T), which has previously been associated with AD. It is currently unknown if these variants affect susceptibility to sEOAD, further studies would be needed to establish this. This work highlights the need to screen sEOAD individuals for variants that are more classically attributed to other forms of neurodegeneration.

Indexed as

Genetic Association StudiesAlzheimer DiseaseDNA Mutational AnalysisGenetic Predisposition to DiseaseGenetic TestingGenetic VariationHumansOligonucleotide Array Sequence AnalysisParkinson Diseasetau ProteinsUbiquitin-Protein LigasesMAPT protein, humanparkin proteintau ProteinsUbiquitin-Protein LigasesAlzheimer's diseaseEarly-onsetNeuroXParkinson's diseaseScreeningSporadic

Identifiers

PMID27776828
PMCPMC5995152

What OpenQuestion holds

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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.