Work

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

Year: 2025

Type: article

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.

Source: npj Parkinson s Disease

DOI: 10.1038/s41531-025-01141-6

Authors: Guillaume Cogan, Christelle Tesson, Lisa Welment, Fabienne Clot, Eric LeGuern, Aymeric Lanore, Alexandra Dürr, Florence Cormier-Dequaire, Bérengère Debilly, Marc Planes, Graziella Mangone, Suzanne Lesage, Alexis Brice

Institutions: Centre National de la Recherche Scientifique, Sorbonne Université, Institut des Sciences Moléculaires, Institut du Cerveau, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Université Clermont Auvergne, Centre Hospitalier Universitaire de Clermont-Ferrand

Language: English

Topic: Parkinson's Disease Mechanisms and Treatments

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,890

Funders: Agence Nationale de la Recherche, Fondation pour la Recherche Médicale, Fondation de France, Fédération pour la Recherche sur le Cerveau, Parkinson Vereniging

Awards: G1258743643, G3103753459, G4530220636, G7240651115, G7915789484

OpenAlex ID: W4415283572

FWCI: 1.691

Cites: 22

Cited by: 3

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