GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region
8.7% of the 252 PD patients carried <i>GBA1</i> variants at a heterozygous level, and their clinical presentation and progression were more severe compared to other patients within our cohort.
Authors
- Amelia Morrone (ORCID: https://orcid.org/0000-0003-2890-8179)
- Silvia Falliano (ORCID: https://orcid.org/0009-0001-3797-5034)
- Renzo Guerrini (ORCID: https://orcid.org/0000-0002-7272-7079)
- Silvia Ramat (ORCID: https://orcid.org/0000-0003-1301-9678)
- Rodolfo Tonin (ORCID: https://orcid.org/0000-0001-5170-6757)
- Giancarlo la Marca (ORCID: https://orcid.org/0000-0003-3319-7260)
- Camilla Matassini (ORCID: https://orcid.org/0000-0002-8336-383X)
- Maria Luisa Della Bona
- Guido Mannaioni (ORCID: https://orcid.org/0000-0002-8273-7377)
- Alessandra Govoni (ORCID: https://orcid.org/0000-0002-5393-5462)
- G. Grigioni (ORCID: https://orcid.org/0000-0002-9413-0599)
- Monica Rinaldi (ORCID: https://orcid.org/0000-0002-6889-9388)
- Federica Feo (ORCID: https://orcid.org/0000-0002-1520-188X)
- Francesca Cardona (ORCID: https://orcid.org/0000-0002-6766-4624)
- Luca Caremani
Institutions
- Meyer Children's Hospital (IT)
- Azienda Ospedaliero-Universitaria Careggi (IT)
- University of Florence (IT)
Publication Details
- Journal
- Clinical Parkinsonism & Related Disorders
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.prdoa.2025.100326
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Regione Toscana