A Global Perspective of GBA1-Related Parkinson’s Disease
Author Information
Author(s): Koros Christos, Bougea Anastasia, Alefanti Ioanna, Simitsi Athina Maria, Papagiannakis Nikolaos, Pachi Ioanna, Sfikas Evangelos, Antonelou Roubina, Stefanis Leonidas
Primary Institution: 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Greece
Hypothesis
The review aims to summarize the literature data on the prevalence, type, and peculiarities of GBA1 mutations in populations of different ethnic backgrounds.
Conclusion
GBA1 mutations are a significant hereditary risk factor for Parkinson's disease and show varying prevalence across different ethnic groups.
Supporting Evidence
- GBA1-related Parkinson's disease has a worldwide distribution.
- Pathogenic GBA1 mutations are particularly common in certain ethnic populations, including Ashkenazi Jews.
- Studies show a high proportion of GBA1 carriers among the PD population in Europe and North America.
- Research is focusing on underrepresented populations in Asia and Latin America.
Takeaway
This study looks at how different groups of people around the world have different types of genetic changes that can lead to Parkinson's disease.
Methodology
The authors reviewed articles published from 2000 to 2024 focusing on genetic data in Parkinson's disease patients across various populations.
Potential Biases
There is a potential bias due to the predominance of studies focusing on European populations.
Limitations
The review includes studies with varying sample sizes and methodologies, which may affect the consistency of the findings.
Participant Demographics
The review covers diverse ethnic backgrounds including Ashkenazi Jews, Europeans, East Asians, and Latin Americans.
Digital Object Identifier (DOI)
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