Should ITSN1 be considered as a Mendelian Parkinson’s disease gene? Description of three novel families
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.
Authors
- Alexandra Dürr (ORCID: https://orcid.org/0000-0002-8921-7104)
- Alexis Brice (ORCID: https://orcid.org/0000-0002-0941-3990)
- Christelle Tesson (ORCID: https://orcid.org/0000-0001-7589-3710)
- Graziella Mangone (ORCID: https://orcid.org/0000-0002-2847-3067)
- Aymeric Lanore (ORCID: https://orcid.org/0000-0002-8251-3410)
- Guillaume Cogan (ORCID: https://orcid.org/0000-0003-3505-7114)
- Lisa Welment
- Eric Leguern
- Bérengère Debilly
- Suzanne Lesage
- Fabienne Clot
- Florence Cormier‐Dequaire
- Marc Planes
Institutions
- Université Clermont Auvergne (FR)
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Pitié-Salpêtrière Hospital (FR)
- Centre Hospitalier Régional Universitaire de Brest (FR)
- Institut du Cerveau (FR)
Publication Details
- Journal
- npj Parkinson s Disease
- Published
- 2025-10-17
- DOI
- https://doi.org/10.1038/s41531-025-01141-6
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Agence Nationale de la Recherche
- Fondation pour la Recherche Médicale
- Fondation de France
- Fédération pour la Recherche sur le Cerveau
- Parkinson Vereniging