ArticleEuropean journal of neurology2022
Prevalence and genotype-phenotype correlations of GBA-related Parkinson disease in a large Chinese cohort.
Article in European journal of neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 27 citations in OpenAlex.
- Interplay of GBA1 with lysosomal dysfunction and inflammation in Parkinson's disease.Neural regeneration research · 2026Article
- Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches.Journal of human genetics · 2026Article
- Rare Variants May Influence Disease Risk and Clinical Features in Sporadic Late-Onset Chinese Parkinson's Disease Patients.International journal of molecular sciences · 2026Article
- Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant.Movement disorders clinical practice · 2026Article
- Protocol of ASPro-PD: a phase 3 trial of ambroxol to slow progression in genetically stratified Parkinson's disease.Journal of neurology · 2026Article
- Multi-omics insights into GBA1-associated Parkinson's disease: interplay of genomics, transcriptomics, proteomics, and lipidomics.Molecular neurodegeneration · 2026Review
- Cortical and subcortical morphological alterations inFrontiers in aging neuroscience · 2026Article
- Autophagy-lysosomal pathway in neurodegeneration.Molecular neurodegeneration advances · 2026Review
- Underlying Mechanisms of GBA1 in Parkinson's Disease and Dementia with Lewy Bodies: Narrative Review.Genes · 2025Review
- Global burden of early-onset Parkinson's disease, 1990-2021: results from the Global Burden of Disease Study 2021.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- A Global Perspective ofGenes · 2024Review
- Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2024Review
- Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.Translational neurodegeneration · 2024Review
- Left corticospinal tract could be a biomarker to identify the dual prodromal LRRK2/GBA mutated Parkinson's disease.CNS neuroscience & therapeutics · 2024Article
- Emerging perspectives on precision therapy for Parkinson's disease: multidimensional evidence leading to a new breakthrough in personalized medicine.Frontiers in aging neuroscience · 2024Review
- A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.Biomedicines · 2023Article
- The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.Genes · 2023Review
- Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.NPJ Parkinson's disease · 2023Article
- Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.Brain and behavior · 2023Article
- Association ofFrontiers in aging neuroscience · 2023Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeVariants in the glucocerebrosidase (GBA) gene are recognized as a common and important genetic risk factor for Parkinson disease (PD). However, the impact of variant severity on the clinical phenotype of PD in the Chinese population remains unclear. Thus, the present study aimed to determine the frequency of GBA-related PD (GBA-PD) and the relationship of GBA variant severity with clinical characteristics in a large Chinese cohort.
methodsLong-range polymerase chain reaction and next generation sequencing were performed for the entire GBA gene. GBA variant severity was classified into five classes: mild, severe, risk, complex, and unknown.
resultsAmong the total 737 PD patients, 47 GBA variants were detected in 79 (10.72%) patients, and the most common GBA variants were R163Q, L444P, and R120W. Complete demographic and clinical data were obtained for 673 patients, which revealed that 18.50% of early onset PD patients had GBA variants. Compared with patients without GBA variants, GBA-PD patients experienced PD onset an average of 4 years earlier and had more severe motor and nonmotor symptoms. Patients carrying severe and complex variants had a higher burden of nonmotor symptoms, especially depression, and more mood/cognitive and gastrointestinal symptoms than patients carrying mild variants.
conclusionsGBA-PD is highly prevalent in the Chinese population. The severity of GBA variants underlies distinct phenotypic spectrums, with PD patients carrying severe and complex variants seeming to have similar phenotypes. PD patient stratification by GBA variant severity should become a prerequisite for selecting specific treatments.
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