Evidence map›Paper›PMID 41728197›Full record

ArticleBMJ neurology open2026

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.

Koen Cedric Demaegd, Wouter Koole, Joke Jfa van Vugt, Jan Willem Dankbaar, Jeroen Hendrikse, A Nazlı Başak, Mamede de Carvalho, Philippe Corcia, Philippe Codron, Emilien Bernard and 13 more

Abstract read
In one paragraph

Article in BMJ neurology open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

23 authors.

Koen Cedric DemaegdDepartment of Neurology, UMC Utrecht, Utrecht, the Netherlands.ORCID https://orcid.org/0000-0001-9606-0531
Wouter KooleDepartment of Genetics, UMC Utrecht, Utrecht, Utrecht, the Netherlands.
Joke Jfa van VugtDepartment of Neurology, UMC Utrecht, Utrecht, the Netherlands.
Jan Willem DankbaarDepartment of Radiology, UMC Utrecht, Utrecht, the Netherlands.
Jeroen HendrikseDepartment of Radiology, UMC Utrecht, Utrecht, the Netherlands.
A Nazlı BaşakSuna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), KUTTAM, Koç University School of Medicine, Istanbul, Turkey.ORCID https://orcid.org/0000-0001-6977-2517
Mamede de CarvalhoUniversity of Lisbon, Lisbon, Lisbon, Portugal.ORCID https://orcid.org/0000-0001-7556-0158
Philippe CorciaUniversite de Tours Faculte de Medecine, Tours, Centre-Val de Loire, France.
Philippe CodronAngers University Hospital, Angers, Pays de la Loire, France.
Emilien BernardRare Disease Reference Center for ALS (CRMR SLA), Pierre Wertheimer Hospital, Hospices Civils de Lyon, Institut NeuroMyoGène-PGNM, Claude Bernard University, Lyon, France.
Claire GuissartMontpellier University, Montpellier, Occitanie, France.
Philippe CouratierALS Centre, Departement of Neurology, CHU Limoges, Limoges, Aquitaine-Limousin-Poitou-Charentes, France.ORCID https://orcid.org/0000-0001-9562-856X
Mónica Povedano PanadesDepartment of Neurology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Catalunya, Spain.
Pieter A van DoornDepartment of Neurology, Erasmus MC, Rotterdam, the Netherlands.
Bart P WarrenburgDepartment of Neurology, Radboudumc, Nijmegen, the Netherlands.
Johnathan Cooper-KnockDepartment of Neurology, Sheffield Institute for Translational Neuroscience (SITraN), Sheffield, South Yorkshire, UK.ORCID https://orcid.org/0000-0002-0873-8689
ALS Sequencing Consortium, Project MinE PI’s
R Jeroen PasterkampDepartment of Translational Neuroscience, UMC Utrecht, Utrecht, Utrecht, the Netherlands.
Wouter van RheenenDepartment of Neurology, UMC Utrecht, Utrecht, the Netherlands.
Philip van DammeLaboratory of Neurobiology, Department of Neuroscience, KU Leuven, Leuven, Belgium.ORCID https://orcid.org/0000-0002-4010-2357
Leonard H van den BergDepartment of Neurology, UMC Utrecht, Utrecht, the Netherlands.
Jan Herman VeldinkDepartment of Neurology, UMC Utrecht, Utrecht, the Netherlands.ORCID https://orcid.org/0000-0001-5572-9657
Michael A van EsDepartment of Neurology, UMC Utrecht, Utrecht, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: The identification of bi-allelic intermediate Methods: Results: In total, we identified bi-allelic intermediate Discussion: Here we report an apparently novel autosomal recessive form of familial ALS caused by bi-allelic intermediate

Indexed as

ALSCLINICAL NEUROLOGYGENETICS

Identifiers

PMID41728197
PMCPMC12918675

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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.