GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region
Year: 2025
Type: article
Study design: Observational Study
Abstract: Introduction: variants and motor and non-motor clinical features in PD. Methods: We screened GCase enzyme activity on Dried Blood Spot using tandem mass spectrometry (LC-MS/MS) and performed sequencing analysis on entire cohort of PD patients by Next Generation Sequencing (NGS) technology. Variants were confirmed with Sanger method. Results: mutations. Conclusions: variants at a heterozygous level, and their clinical presentation and progression were more severe compared to other patients within our cohort.
Authors: Rodolfo Tonin, Silvia Ramat, Marina Rinaldi, Silvia Falliano, Federica Feo, Francesca Cardona, Camilla Matassini, Guido Mannaioni, Giulia Grigioni, Luca Caremani, Alessandra Govoni, Maria Luisa Della Bona, Giancarlo la Marca, Renzo Guerrini, Amelia Morrone
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,730
OpenAlex ID: W4409385198