Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers

E Menozzi, AHV Schapira - Frontiers in Neurology, 2021 - frontiersin.org
Variants in the glucocerebrosidase (GBA) gene are the most common genetic risk factor for
Parkinson disease (PD). These include pathogenic variants causing Gaucher disease …

Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene

A Thaler, N Bregman, T Gurevich, T Shiner… - Parkinsonism & related …, 2018 - Elsevier
Objective Mutations in the glucocerebrosidase (GBA) gene are divided into mild and severe
(mGBA, sGBA) based on their contribution to the phenotype of Gaucher disease (GD) …

GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease

S Jesus, I Huertas, I Bernal-Bernal, M Bonilla-Toribio… - PloS one, 2016 - journals.plos.org
The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing
the risk of developing Parkinson's disease (PD). Mutations carriers have earlier disease …

Prevalence and genotype–phenotype correlations of GBA‐related Parkinson disease in a large Chinese cohort

J Ren, R Zhang, C Pan, J Xu, H Sun… - European Journal of …, 2022 - Wiley Online Library
Background and purpose Variants in the glucocerebrosidase (GBA) gene are recognized as
a common and important genetic risk factor for Parkinson disease (PD). However, the impact …

Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study

S Pachchek, Z Landoulsi, L Pavelka, C Schulte… - npj Parkinson's …, 2023 - nature.com
Heterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly
recognized risk factor for Parkinson's disease (PD). Due to the GBAP1 pseudogene, which …

The Association between E326K of GBA and the Risk of Parkinson's Disease

Y Huang, L Deng, Y Zhong, M Yi - Parkinson's disease, 2018 - Wiley Online Library
It is reported that both the homozygous and heterozygous states of GBA mutations which are
the causes of Gaucher disease (GD) are linked to the risk of PD. However, the GBA variant …

Association of GBA genotype with motor and cognitive decline in Chinese Parkinson's disease patients

J Ren, G Zhou, Y Wang, R Zhang, Z Guo… - Frontiers in Aging …, 2023 - frontiersin.org
Objective Variants in the glucocerebrosidase (GBA) gene are the most common and
significant risk factor for Parkinson's disease (PD). However, the impact of GBA variants on …

Glucocerebrosidase mutations and Parkinson disease

SRL Vieira, AHV Schapira - Journal of Neural Transmission, 2022 - Springer
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 …

Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features

JL Lim, K Lohmann, AH Tan, YW Tay… - Journal of Neural …, 2022 - Springer
GBA variants are associated with increased risk and earlier onset of Parkinson's disease
(PD), and more rapid disease progression especially with “severe” variants typified by p …

β-Glucocerebrosidase activity in GBA-linked Parkinson disease: The type of mutation matters

YE Huh, MSR Chiang, JJ Locascio, Z Liao, G Liu… - Neurology, 2020 - AAN Enterprises
Objective To test the relationship between clinically relevant types of GBA mutations (none,
risk variants, mild mutations, severe mutations) and β-glucocerebrosidase activity in patients …