GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region

GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region

Introduction: heterozygous mutations in the glucocerebrosidase gene (GBA1), encoding the lysosomal enzyme β-glucocerebrosidase (GCase) are the most common genetic risk factor for Parkinson’s disease (PD). To assess the frequency of GBA1 variants related to PD in a cohort of Tuscany patients and to d...

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Main 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
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Clinical Parkinsonism & Related Disorders
Subjects:
Parkinson’s disease
GBA1 gene
GBA1 gene carrier
GCase activity, GBA1-Parkinson
Online Access:http://www.sciencedirect.com/science/article/pii/S2590112525000301
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