Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the <scp>PADUA</scp>‐<scp>CESNE</scp> Cohort
Our findings expand the phenotypic spectrum of GRN mutations, showing that patients can present with clinical manifestations of PD, including phosphorylated synuclein pathology in the skin, with a relatively young age of onset. Our observations support the use of broad-spectrum NGS panels to properly guide patients in counseling and accurately allocate them to disease-modifying therapies.
Authors
- Giulia Bonato
- Carmelo Fogliano
- Tommaso Carrer (ORCID: https://orcid.org/0000-0003-4695-9391)
- Marta Campagnolo (ORCID: https://orcid.org/0000-0002-6394-7168)
- Angelo Antonini (ORCID: https://orcid.org/0000-0003-1040-2807)
- Miryam Carecchio (ORCID: https://orcid.org/0000-0002-0755-5477)
- Aron Emmi (ORCID: https://orcid.org/0000-0002-2796-5676)
- Leonardo Salviati (ORCID: https://orcid.org/0000-0001-5642-9963)
- Valentina Misenti
Institutions
- University of Padua (IT)
Publication Details
- Journal
- Movement Disorders Clinical Practice
- Published
- 2025-04-04
- DOI
- https://doi.org/10.1002/mdc3.70064
- Citations
- 5
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 6.95