Evidence map›Paper›PMID 41107259›Full record

ArticleNPJ Parkinson's disease2025

Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families.

Guillaume Cogan, Christelle Tesson, Lisa Welment, Fabienne Clot, Eric LeGuern, Aymeric Lanore, Alexandra Dürr, Florence Cormier-Dequaire, Bérengère Debilly, Marc Planes and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ Parkinson's disease, 2025. 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
–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

2 citing papers in PubMed.

  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

13 authors.

Guillaume CoganSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Christelle TessonSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Lisa WelmentSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Fabienne ClotAP-HP Sorbonne Université, Département de génétique médicale, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France.
Eric LeGuernAP-HP Sorbonne Université, Département de génétique médicale, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France.
Aymeric LanoreSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Alexandra DürrSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Florence Cormier-DequaireNeurology Department, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
Bérengère DebillyService de Neurologie, CHU de Clermont-Ferrand, Université Clermont Auvergne, Clermont-Ferrand, France.
Marc PlanesService de Génétique Clinique, University Hospital Morvan, Brest, France.
Graziella MangoneNeurology Department, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
Suzanne LesageSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Alexis BriceSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France. alexis.brice@icm-institute.org.

Funding

Fondation pour la Recherche Médicale MND202004011718
6 · The paper itself

Abstract

Rare loss-of-function variants in ITSN1 were recently reported to confer a high risk for Parkinson's disease (PD). From our local large exome sequencing dataset of PD cases, we identified five carriers from three families. Clinical features of ITSN1-PD are typical and responsive to standard treatments. Additionally, we discuss whether ITSN1 loss-of-function variants should only be considered as a high-risk factor or a Mendelian PD gene.

Identifiers

PMID41107259
PMCPMC12534528

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.