The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which
maintains glycosphingolipid homeostasis. Approximately 5–15% of PD patients have …

The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance
pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a …

Background GBA1 variants are among the most common genetic risk factors for Parkinson's
disease (PD). GBA1 variants can be classified into three categories based on their role in …

Parkinson's disease is a genetically complex disorder. Multiple genes have been shown to
contribute to the risk of Parkinson's disease, and currently 90 independent risk variants have …

Variants in the glucocerebrosidase (GBA) gene are the most common genetic risk factor for
Parkinson disease (PD). These include pathogenic variants causing Gaucher disease …

Sequence variants or mutations in the GBA gene are numerically the most important risk
factor for Parkinson disease (PD). The GBA gene encodes for the lysosomal hydrolase …

Background Molecules related to glucocerebrosidase (GCase) are potential biomarkers for
development of compounds targeting GBA1‐associated Parkinson's disease (GBA‐PD) …

Background Mutations in GBA cause Gaucher disease when biallelic and are strong risk
factors for Parkinson's disease when heterozygous. GBA analysis is complicated by the …

Aims A mutation in the GBA1 gene is the most common genetic risk factor for developing
Parkinson's disease. GBA1 encodes the lysosomal enzyme glucosylceramidase beta …

Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before
the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that …