Evidence map›Paper›PMID 42123659›Full record

ArticleInternational journal of molecular sciences2026

Cumulative Incidence in Monogenic Alzheimer's Disease and Frontotemporal Dementia: Gene-Gene Interaction Effect.

Andrea Geviti, Lorenzo Pagano, Mario Grassi, Claudia Saraceno, Alessandro Facconi, Silvia Fostinelli, Valentina Laganà, Giulia Giacomucci, Maria Sofia Cotelli, Valentina Cantoni and 14 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

24 authors.

Andrea GevitiService of Statistics, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.ORCID 0000-0003-0041-4142
Lorenzo PaganoMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.ORCID 0009-0007-0016-555X
Mario GrassiService of Statistics, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Claudia SaracenoMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.ORCID 0000-0001-8618-4282
Alessandro FacconiMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.ORCID 0000-0001-9060-6580
Silvia FostinelliMAC-Memory Clinic and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.ORCID 0000-0003-0120-880X
Valentina LaganàDepartment of Primary Care, Regional Neurogenetic Centre (CRN), ASP Catanzaro, 88046 Lamezia Terme, Italy.ORCID 0000-0001-8379-400X
Giulia GiacomucciDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50139 Florence, Italy.ORCID 0000-0002-8711-331X
Maria Sofia CotelliDepartment of Continuity of Care and Frailty, ASST Spedali Civili di Brescia, 25123 Brescia, Italy.ORCID 0000-0002-7010-2809
Valentina CantoniDepartment of Clinical and Experimental Sciences, University of Brescia, 25123 Brescia, Italy.
Assunta IngannatoDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50139 Florence, Italy.ORCID 0000-0003-4955-0321
Silvia BagnoliDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50139 Florence, Italy.ORCID 0000-0002-4373-6611
Valentina BessiDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50139 Florence, Italy.ORCID 0000-0002-6176-3584
Antonio LongobardiMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.ORCID 0000-0002-8292-6434
Alice RussottoMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.ORCID 0000-0002-6279-5983
Sonia BelliniMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.ORCID 0000-0002-6162-252X
Davide LagrotteriaDepartment of Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, Italy.ORCID 0000-0002-7241-9180
Ersilia PaparazzoDepartment of Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, Italy.ORCID 0000-0002-9593-9314
Giuliano BinettiMAC-Memory Clinic and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Alberto MontesantoDepartment of Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, Italy.ORCID 0000-0002-9563-2216
Benedetta NacmiasDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50139 Florence, Italy.ORCID 0000-0001-9338-9040
Raffaele MalettaDepartment of Primary Care, Regional Neurogenetic Centre (CRN), ASP Catanzaro, 88046 Lamezia Terme, Italy.ORCID 0000-0002-0758-1835
Barbara BorroniMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Roberta GhidoniMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.ORCID 0000-0002-7691-1957

Funding

European Union, European Union-Next Generation EU-NRRP M6C2-Investment 2.1 Enhancement and strengthening of biomedical research in the NHS-PNRR-MR1-2022-12375654-Cup Code: C83C22001300001. Title: Genetic and epigenetic modulAtors in Rare neurodegenerative diseases with D
6 · The paper itself

Abstract

Monogenic forms of Alzheimer's Disease (AD) and Frontotemporal Dementia (FTD) represent the two principal neurodegenerative disorders leading to early-onset dementia, primarily linked to mutations in key AD- and FTD-associated genes. The marked heterogeneity in age at onset and penetrance among carriers of pathogenic mutations suggests that monogenic variants act within a broader polygenic background. The combined impact of AD- and FTD-related genetic variation on disease incidence in monogenic forms remains largely unexplored. Herein, we investigate gene-gene interaction patterns in monogenic AD and FTD, with a focus on genetic variability in key AD (

Indexed as

Alzheimer DiseaseEpistasis, GeneticFrontotemporal DementiaAgedAmyloid beta-Protein PrecursorC9orf72 ProteinFemaleGenetic Predisposition to DiseaseHumansIncidenceMaleMutationPedigreePresenilin-1Presenilin-2ProgranulinsAmyloid beta-Protein PrecursorC9orf72 ProteinC9orf72 protein, humanMAPT protein, humanPresenilin-1Presenilin-2ProgranulinsPSEN1 protein, humanPSEN2 protein, humantau ProteinsAlzheimer’s diseaseAPPC9orf72cumulative incidencefrontotemporal dementiagene–gene interactionGRNMAPTPSEN1PSEN2

Identifiers

PMID42123659
PMCPMC13164024

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Registered trials

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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.