ArticleNeurobiology of aging2020
Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease.
Article in Neurobiology of aging, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 19 citations in OpenAlex.
- Genetic Landscape of Monogenic Parkinson's Disease in the African Population-A Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2026Pooled it
- Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.The Lancet. Neurology · 2023Pooled it
- Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.Brain : a journal of neurology · 2026Article
- Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.Neurogenetics · 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
- Article
- The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.Genes · 2023Review
- Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson's Disease in African and African Admixed Populations.medRxiv : the preprint server for health sciences · 2023Article
- Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.Movement disorders : official journal of the Movement Disorder Society · 2023Review
- Review
- Leveraging genetic diversity to understand monogenic Parkinson's disease's landscape in AfrAbia.American journal of neurodegenerative disease · 2023Review
- GBA-associated PD: chances and obstacles for targeted treatment strategies.Journal of neural transmission (Vienna, Austria : 1996) · 2022Review
- Simple and Complex Sugars in Parkinson's Disease: a Bittersweet Taste.Molecular neurobiology · 2020Review
- Parkinson's Disease Research on the African Continent: Obstacles and Opportunities.Frontiers in neurology · 2020Article
- Article
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 2 countries.
Funding
Abstract
Sequence variants in glucocerebrosidase (GBA) are a major genetic risk factor for Parkinson's disease (PD), and display ethnic-dependent frequencies, for example, variants such as p.N370S and 84insGG are common in Ashkenazi Jewish patients. Notably, there are limited studies on black patients from the African continent; hence, we conducted a study on 30 South African black PD patients. All 11 exons of GBA were screened using a nested PCR approach to avoid pseudogene contamination. We identified previously described Gaucher's disease-associated variants, p.R120W in one patient [age at onset (AAO) of 35 years], and p.R131L in another patient (AAO 30 years) and in her affected sibling (AAO 45 years). In addition, we found 3 previously identified [p.K(-27)R, p.T36del, and p.Q497*] and 2 novel (p.F216L and p.G478R) variants. Screening of ethnic-matched controls for the novel variants revealed that the allele frequency of p.F216L was 9.9%, whereas p.G478R was not found in the controls. Studies such as these are important and necessary to reveal the genetic architecture underlying PD in the understudied patients of African ancestry.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.