Evidence map›Paper›PMID 29476165›Full record

ArticleEuropean journal of human genetics : EJHG2018

Genetics of dementia in a Finnish cohort.

Petra Pasanen, Liisa Myllykangas, Minna Pöyhönen, Anna Kiviharju, Maija Siitonen, John Hardy, Jose Bras, Anders Paetau, Pentti J Tienari, Rita Guerreiro and 1 more

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

Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 30% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
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  3. 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

11 authors at 4 institutions in 3 countries.

Petra PasanenDepartment of Medical Biochemistry and Genetics, Institute of Biomedicine, University of Turku, Turku, Finland. petra.pasanen@utu.fi.ORCID http://orcid.org/0000-0003-2069-5877
Liisa MyllykangasDepartment of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Minna PöyhönenDepartment of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
Anna KiviharjuResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Maija SiitonenDepartment of Medical Biochemistry and Genetics, Institute of Biomedicine, University of Turku, Turku, Finland.
John HardyDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Jose BrasDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Anders PaetauDepartment of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Pentti J TienariResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Rita GuerreiroDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Auli Verkkoniemi-AholaClinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
University of Helsinki · FIUK Dementia Research Institute · GBUniversity of Turku · FIUniversity College London · GB

Funding

Alzheimer's Society 200Medical Research Council G0701075Parkinson's UK G-0907
6 · The paper itself

Abstract

Alzheimer's disease (AD) and frontotemporal dementia (FTD) are the two most common neurodegenerative dementias. Variants in APP, PSEN1 and PSEN2 are typically linked to early-onset AD, and several genetic risk loci are associated with late-onset AD. Inherited FTD can be caused by hexanucleotide expansions in C9orf72, or variants in GRN, MAPT or CHMP2B. Several other genes have also been linked to FTD or FTD with motor neuron disease. Here we describe a cohort of 60 Finnish families with possible inherited dementia. Our aim was to clarify the genetic background of dementia in this cohort by analysing both known dementia-associated genes (APOE, APP, C9ORF72, GRN, PSEN1 and PSEN2) and searching for rare or novel segregating variants with exome sequencing. C9orf72 repeat expansions were detected in 12 (20%) of the 60 families, including, in addition to FTD, a family with neuropathologically verified AD. Twelve families (10 with AD and 2 with FTD) with representative samples from affected and unaffected subjects and without C9orf72 expansions were selected for whole-exome sequencing. Exome sequencing did not reveal any variants that could be regarded unequivocally causative, but revealed potentially damaging variants in UNC13C and MARCH4.

Indexed as

Genetic Predisposition to DiseaseAgedAlzheimer DiseaseC9orf72 ProteinExome SequencingFemaleFrontotemporal DementiaGenetic Association StudiesHumansMaleMiddle AgedC9orf72 ProteinC9orf72 protein, human

Identifiers

PMID29476165
PMCPMC5974394
OpenAlexW2791167765

What OpenQuestion holds

Textmetadata
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.