Compound Heterozygous Structural Variants in Cases with Unsolved <scp> <i>PRKN</i> </scp> ‐Associated Parkinson's Disease
In this article we describe a rare configuration of compound heterozygous structural variations involving partially overlapping chromosomal regions at the PRKN locus, which are difficult to detect through standard diagnostic genetic technologies. This study highlights the importance of integrating WGS into clinical practice. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Giulia Di Rauso (ORCID: https://orcid.org/0000-0001-7159-9311)
- Francesco Musacchia (ORCID: https://orcid.org/0000-0001-9440-1080)
- Francesco Cavallieri (ORCID: https://orcid.org/0000-0001-5836-1982)
- Stefano Gustincich (ORCID: https://orcid.org/0000-0002-2749-2514)
- Barbara Garavaglia
- Franco Valzania (ORCID: https://orcid.org/0000-0003-4887-1692)
- Andrea Cavalli (ORCID: https://orcid.org/0000-0002-6370-1176)
- Fabio Landuzzi (ORCID: https://orcid.org/0000-0002-7608-3514)
- Gaia Treves
- Manuela Vecchi (ORCID: https://orcid.org/0000-0002-2750-9160)
- Antonio Amoroso (ORCID: https://orcid.org/0000-0002-9437-9407)
- Paola Mandich (ORCID: https://orcid.org/0000-0003-3123-3512)
- Valeria Tiranti (ORCID: https://orcid.org/0000-0002-3584-7338)
- Edoardo Monfrini (ORCID: https://orcid.org/0000-0003-4720-9234)
- Valentina Fioravanti (ORCID: https://orcid.org/0000-0003-2741-0512)
- Alessio Di Fonzo (ORCID: https://orcid.org/0000-0001-6478-026X)
- Sara Trova (ORCID: https://orcid.org/0000-0001-9270-4977)
- Luigi Romito (ORCID: https://orcid.org/0000-0002-6772-1035)
- Enza Maria Valente (ORCID: https://orcid.org/0000-0002-0600-6820)
- Luca Pandolfini (ORCID: https://orcid.org/0000-0003-1444-8167)
- Remo Sanges (ORCID: https://orcid.org/0000-0002-5047-9713)
- Antonio Emanuele Elia (ORCID: https://orcid.org/0000-0002-5917-7578)
- Chiara Reale (ORCID: https://orcid.org/0000-0002-7493-758X)
- Gloria Brescia
- Agata Fant
Institutions
- University of Modena and Reggio Emilia (IT)
- Scuola Internazionale Superiore di Studi Avanzati (IT)
- University of Milan (IT)
- University of Pavia (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Italian Institute of Technology (IT)
- Ospedale Maggiore (IT)
- Azienda Sanitaria Unità Locale di Reggio Emilia (IT)
- Fondazione Istituto Neurologico Nazionale Casimiro Mondino (IT)
- Associazione Italiana Arbitri (IT)
- Ferrari (Italy) (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- École Polytechnique Fédérale de Lausanne (CH)
- University of Genoa (IT)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-08-30
- DOI
- https://doi.org/10.1002/mds.70027
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute
- Istituto Italiano di Tecnologia
- Fondazione Regionale per la Ricerca Biomedica
- European Regional Development Fund
- European Social Fund