Evidence map›Paper›PMID 36114914›Full record

ArticleNeurogenetics2022

Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlation.

Miguel Tábuas-Pereira, Rita Guerreiro, Célia Kun-Rodrigues, Maria Rosário Almeida, José Brás, Isabel Santana

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurogenetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 32% 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, 2 citations in OpenAlex.

  1. Article
  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

6 authors at 3 institutions in 2 countries.

Miguel Tábuas-PereiraNeurology Department, Centro Hospitalar E Universitário de Coimbra, Praceta Prof. Mota Pinto, 3000-045, Coimbra, Portugal. miguelatcp@gmail.com.ORCID 0000-0002-3988-614X
Rita GuerreiroCenter for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA.ORCID 0000-0001-5879-3486
Célia Kun-RodriguesCenter for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA.ORCID 0000-0003-4528-0061
Maria Rosário AlmeidaCenter for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal.ORCID 0000-0002-1889-5469
José Brás *Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA.ORCID 0000-0001-8186-0333
Isabel Santana *Neurology Department, Centro Hospitalar E Universitário de Coimbra, Praceta Prof. Mota Pinto, 3000-045, Coimbra, Portugal.ORCID 0000-0002-8114-9434
Van Andel Institute · USHospitais da Universidade de Coimbra · PTUniversity of Coimbra · PT

Funding

Alzheimer's disease genetic architecture in the Portuguese populationR01AG067426 · NIA · VAN ANDEL RESEARCH INSTITUTE · PI GUERREIRO, RITA · 2020 to 2023
$3.1M
NIA NIH HHS R01 AG067426
6 · The paper itself

Abstract

Dementia with Lewy bodies is a neurodegenerative disease, sharing features with Parkinson's and Alzheimer's diseases. We report a case of a patient dementia with Lewy bodies carrying combined PSEN1 and ATP7B mutations. A man developed dementia with Lewy bodies starting at the age of 60 years. CSF biomarkers were of Alzheimer's disease and DaTSCAN was abnormal. Whole-exome sequencing revealed a heterozygous p.Ile408Thr PSEN1 variant and a homozygous p.Arg616Trp ATP7B variant. This case reinstates the need of considering ATP7B mutations when evaluating a patient with parkinsonism and supports p.Ile408Thr as a pathogenic PSEN1 variant.

Indexed as

Alzheimer DiseaseLewy Body DiseaseNeurodegenerative DiseasesExome SequencingGenetic Association StudiesHumansPresenilin-1Presenilin-1PSEN1 protein, humanAlzheimerCopathologyGeneticsLewy body dementiaSynucleinWilson’s disease

Identifiers

PMID36114914
PMCPMC9669161
OpenAlexW4296161778

What OpenQuestion holds

Textmetadata
LicenceTDM
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.