Classification of GBA1 Variants in Parkinson's Disease: The GBA1‐PD Browser

SC Parlar, FP Grenn, JJ Kim… - Movement …, 2023 - Wiley Online Library
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 …

A Large‐Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands

JM den Heijer, VC Cullen, M Quadri… - Movement …, 2020 - Wiley Online Library
Background The most common genetic risk factor for Parkinson's disease known is a
damaging variant in the GBA1 gene. The entire GBA1 gene has rarely been studied in a …

GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort

S Petrucci, M Ginevrino, I Trezzi, E Monfrini… - Movement …, 2020 - Wiley Online Library
Background Variants in GBA are the most common genetic risk factor for Parkinson's
disease (PD). The impact of different variants on the PD clinical spectrum is still unclear …

GBA‐associated Parkinson's disease: Reduced survival and more rapid progression in a prospective longitudinal study

K Brockmann, K Srulijes, S Pflederer… - Movement …, 2015 - Wiley Online Library
Background Parkinson's disease (PD) patients with GBA mutations show an earlier age at
onset and more severe non‐motor symptoms compared with PD patients without GBA …

GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes

A Greuel, JP Trezzi, E Glaab, MC Ruppert… - Movement …, 2020 - Wiley Online Library
Background Alterations in the GBA gene (NM_000157. 3) are the most important genetic risk
factor for Parkinson's disease (PD). Biallelic GBA mutations cause the lysosomal storage …

GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease

IF Mata, JB Leverenz, D Weintraub… - Movement …, 2016 - Wiley Online Library
Background Loss‐of‐function mutations in the GBA gene are associated with more severe
cognitive impairment in PD, but the nature of these deficits is not well understood and …

Evolution and clustering of prodromal parkinsonian features in GBA1 carriers

S Mullin, M Beavan, J Bestwick, A McNeill… - Movement …, 2019 - Wiley Online Library
Background Five to 25% of patients with PD carry glucocerebrosidase gene mutations, and
10% to 30% of glucocerebrosidase carriers will develop PD by age 80. Stratification of PD …

Neuroimaging in glucocerebrosidase‐associated Parkinsonism: A systematic review

M Filippi, R Balestrino, S Basaia… - Movement Disorders, 2022 - Wiley Online Library
Background Mutations in the GBA gene cause Gaucher's disease (GD) and constitute the
most frequent genetic risk factor for idiopathic Parkinson's disease (iPD). Nonmanifesting …

Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease

Y Zhou, Y Wang, J Wan, Y Zhao, H Pan, Q Zeng… - npj Parkinson's …, 2023 - nature.com
GBA1 variants are important risk factors for Parkinson's disease (PD). Most studies
assessing GBA1-related PD risk have been performed in European-derived populations …

Role of Lysosomal Gene Variants in Modulating GBA‐Associated Parkinson's Disease Risk

L Straniero, V Rimoldi, E Monfrini… - Movement …, 2022 - Wiley Online Library
Background To date, variants in the GBA gene represent the most frequent large‐effect
genetic factor associated with Parkinson's disease (PD). However, the reason why …