The discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic
risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within …

The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase), which is
involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease …

α-Synucleinopathies comprise a group of neurodegenerative diseases characterized by
altered accumulation of a protein called α-synuclein inside neurons and glial cells. This …

The recent validation of the α-synuclein seed amplification assay as a biomarker with high
sensitivity and specificity for the diagnosis of Parkinson's disease has formed the backbone …

Parkinson's disease (PD) is a neurodegenerative disorder primarily known for typical motor
features that arise due to the loss of dopaminergic neurons in the substantia nigra. However …

GBA variants increase the risk of Parkinson's disease (PD) by 10 times. The GBA gene
encodes the lysosomal enzyme glucocerebrosidase (GCase). The p. N370S substitution …

Variants in the GBA1 and LRRK2 genes are the most common genetic risk factors
associated with Parkinson disease (PD). Both genes are associated with lysosomal and …

Background and Objectives Variations in the glucocerebrosidase gene (GBA) are common
risk factors for Parkinson disease (PD) and dementia in PD (PDD) and cause a reduction in …

Background GBA variants increase the risk of developing Parkinson disease (PD) and
influence its outcome. Deep brain stimulation (DBS) is a recognised therapeutic option for …

Genetic alterations in the LRRK2 gene, encoding leucine-rich repeat kinase 2, are a
common risk factor for Parkinson's disease. How LRRK2 alterations lead to cell pathology is …