Evidence map›Paper›PMID 32328830›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2020

Incomplete penetrance in familial Alzheimer's disease with PSEN1 Ala260Gly mutation.

I Piaceri, A Chiari, C Galli, S Bagnoli, C Ferrari, S Trujillo Saavedra, M A Molinari, G Vinceti, S Sorbi, B Nacmias

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 43% 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, 4 citations in OpenAlex.

  1. Review
  2. A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Article
  3. 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 4 institutions in 2 countries.

I PiaceriDepartment of Neuroscience, Psychology, Drug Research and Child Health and Centro di Ricerca, University of Florence, Florence, Italy.
A ChiariDepartment of Neuroscience, Neurology Unit, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.
C GalliDepartment of Neuroscience, Psychology, Drug Research and Child Health and Centro di Ricerca, University of Florence, Florence, Italy.
S BagnoliDepartment of Neuroscience, Psychology, Drug Research and Child Health and Centro di Ricerca, University of Florence, Florence, Italy.
C FerrariDepartment of Neuroscience, Psychology, Drug Research and Child Health and Centro di Ricerca, University of Florence, Florence, Italy.
S Trujillo SaavedraDepartment of Neuroscience, Psychology, Drug Research and Child Health and Centro di Ricerca, University of Florence, Florence, Italy.
M A MolinariDepartment of Neuroscience, Neurology Unit, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.
G VincetiDepartment of Neuroscience, Neurology Unit, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.
S SorbiDepartment of Neuroscience, Psychology, Drug Research and Child Health and Centro di Ricerca, University of Florence, Florence, Italy.
B NacmiasDepartment of Neuroscience, Psychology, Drug Research and Child Health and Centro di Ricerca, University of Florence, Florence, Italy. nacmias@unifi.it.
University of Florence · ITPoliclinico di Modena · ITDon Carlo Gnocchi Foundation · ITUniversity of Modena and Reggio Emilia · IT

Funding

Airalzh onlus COOPEnte Cassa di Risparmio di Firenze 2015.0713Università di Firenze fondi ateneo per la ricerca
6 · The paper itself

Abstract

Presenilin1 (PSEN1) gene is the most common known genetic cause of early-onset familial Alzheimer's disease. We describe an Italian family with the known p.Ala260Gly mutation in PSEN1 gene. The presence of an asymptomatic 64-year-old male carrying the mutation provides evidence of a possible incomplete penetrance leading to a wider range of age at onset. In order to evaluate whether or not epigenetic modifications could contribute to the phenotypic heterogeneity, we assessed global DNA methylation levels which resulted significantly higher in the three females than in their presymptomatic brother. The study suggests that DNA methylation can contribute to slowing down or possibly protecting from the manifestation of symptoms even in monogenic diseases, emphasizing the great complexity of familial Alzheimer's disease.

Indexed as

Alzheimer DiseaseAge of OnsetFemaleHumansMaleMiddle AgedMutationPenetrancePresenilin-1Presenilin-1PSEN1 protein, humancognitive reserveDNA methylationepigeneticneurodegenerative diseasePresenilin mutation

Identifiers

PMID32328830
OpenAlexW3020084092

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.