<scp> <i>RAB32</i> </scp> ‐Linked Parkinson's Disease: Deep Phenotyping, <scp>MDSGene</scp> Literature Review, and Application of <scp>SynNeurGe</scp> Criteria
While PARK-RAB32 is clinically and likely pathologically similar to idiopathic PD, our study underscores the importance of carefully assessing non-motor symptoms in this newly described form of PD. According to SynNeurGe criteria, PARK-RAB32 is classified as S<sup>+</sup> (evidence of synucleinopathy), N<sup>+</sup> (neurodegeneration supported by imaging data), and G<sub>P</sub> <sup>+</sup> (presence of a genetic variant). © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Giulia Toschi (ORCID: https://orcid.org/0009-0003-1987-0495)
- Katja Lohmann (ORCID: https://orcid.org/0000-0002-5121-1460)
- Joanne Trinh (ORCID: https://orcid.org/0000-0001-9863-2070)
- Francesco Cavallieri (ORCID: https://orcid.org/0000-0001-5836-1982)
- Simone Zittel (ORCID: https://orcid.org/0000-0002-3767-6376)
- Letizia Santinelli (ORCID: https://orcid.org/0000-0002-5621-058X)
- Franco Valzania (ORCID: https://orcid.org/0000-0003-4887-1692)
- Carolin Gabbert (ORCID: https://orcid.org/0000-0002-2308-9330)
- Michele Matarazzo (ORCID: https://orcid.org/0000-0002-2907-8667)
- Teresa Kleinz (ORCID: https://orcid.org/0009-0000-6313-7395)
- Edoardo Monfrini (ORCID: https://orcid.org/0000-0003-4720-9234)
- Max Borsche (ORCID: https://orcid.org/0000-0002-9651-5986)
- Max Brand
- Valentina Fioravanti (ORCID: https://orcid.org/0000-0003-2741-0512)
- Cholpon Shambetova (ORCID: https://orcid.org/0000-0002-2547-315X)
- Mandy Radefeldt
- Alessio Di Fonzo (ORCID: https://orcid.org/0000-0001-6478-026X)
- Enza Maria Valente (ORCID: https://orcid.org/0000-0002-0600-6820)
- Cornelis Blauwendraat (ORCID: https://orcid.org/0000-0001-9358-8111)
- Norbert Brüggemann (ORCID: https://orcid.org/0000-0001-5969-6899)
- Peter O. Bauer (ORCID: https://orcid.org/0000-0003-2811-1354)
- Christian Beetz (ORCID: https://orcid.org/0000-0001-7061-2895)
- Micol Avenali (ORCID: https://orcid.org/0000-0002-7880-9921)
- Pierfrancesco Mitrotti (ORCID: https://orcid.org/0000-0003-3574-1290)
- Rommi Born
- Norman Griebner
Institutions
- National Institutes of Health (US)
- Universität Hamburg (DE)
- University of Milan (IT)
- University of Pavia (IT)
- Foundation Center (US)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale Maggiore (IT)
- Azienda Sanitaria Unità Locale di Reggio Emilia (IT)
- Klinikum Hanau (DE)
- Urology Foundation (GB)
- University Medical Center Hamburg-Eppendorf (DE)
- National Institute of Neurological Disorders and Stroke (US)
- University Hospital Schleswig-Holstein (DE)
- HM Hospitales (ES)
- National Institute on Aging (US)
- Centogene (Germany) (DE)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Lübeck (DE)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-10-17
- DOI
- https://doi.org/10.1002/mds.70037
- Citations
- 1
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.39
Funders
- Michael J. Fox Foundation for Parkinson's Research
- EU Joint Programme – Neurodegenerative Disease Research
- Deutsche Forschungsgemeinschaft
- Else Kröner-Fresenius-Stiftung
- National Institutes of Health