<scp> <i>RRP12</i> </scp> Variants Are Associated With Autosomal Recessive Brain Calcifications
RRP12 is a novel candidate gene for autosomal recessive brain calcifications, possibly associated with a wide clinical spectrum ranging from early-onset severe forms to adult-onset paucisymptomatic presentations. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Paola Rinchetti (ORCID: https://orcid.org/0000-0001-8279-3304)
- Gioia Cappelletti (ORCID: https://orcid.org/0000-0002-2932-2391)
- Anna Klingseisen
- David Hunt (ORCID: https://orcid.org/0000-0003-4230-0207)
- Olivier Quenez (ORCID: https://orcid.org/0000-0002-8273-8505)
- Dehao Yang (ORCID: https://orcid.org/0000-0002-4129-9761)
- Giulietta Riboldi (ORCID: https://orcid.org/0000-0003-0322-5718)
- Zhidong Cen (ORCID: https://orcid.org/0000-0003-3155-5781)
- Edoardo Monfrini (ORCID: https://orcid.org/0000-0003-4720-9234)
- Ouhaïd Lagha‐Boukbiza
- Francesco Lotti (ORCID: https://orcid.org/0000-0002-5104-9088)
- Anne‐Claire Richard
- Henry Houlden (ORCID: https://orcid.org/0000-0002-2866-7777)
- Reza Maroofian (ORCID: https://orcid.org/0000-0001-6763-1542)
- Wei Luo (ORCID: https://orcid.org/0000-0001-6951-7698)
- Gaël Nicolas (ORCID: https://orcid.org/0000-0001-9391-7800)
- Steven J. Frucht (ORCID: https://orcid.org/0000-0002-4653-0491)
- Mathieu Anheim (ORCID: https://orcid.org/0000-0001-8121-0605)
- Xinhui Chen (ORCID: https://orcid.org/0009-0009-9940-9327)
- Camilo Toro (ORCID: https://orcid.org/0000-0001-7139-0518)
Institutions
- International Space University (FR)
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Queen Mary University of London (GB)
- University of Milan (IT)
- Columbia University Irving Medical Center (US)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Hunter College (US)
- National Human Genome Research Institute (US)
- Normandie Université (FR)
- MRC Centre for Regenerative Medicine (GB)
- UK Dementia Research Institute (GB)
- Hôpitaux Universitaires de Strasbourg (FR)
- Second Affiliated Hospital of Zhejiang University (CN)
- Ferrari (Italy) (IT)
- University College London (GB)
- Université de Rouen Normandie (FR)
- Université de Strasbourg (FR)
- New York College of Health Professions (US)
- University of Edinburgh (GB)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-10-08
- DOI
- https://doi.org/10.1002/mds.70058
- Citations
- 2
- Primary Topic
- Medical Imaging and Pathology Studies
- Type
- article
- Field-Weighted Citation Impact
- 3.04