Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Mar;38(3):489-495.
doi: 10.1002/mds.29314. Epub 2023 Jan 4.

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

Sitki Cem Parlar  1   2 , Francis P Grenn  3 , Jonggeol Jeffrey Kim  3   4 , Cornelis Baluwendraat  3   5 , Ziv Gan-Or  1   2   6
Affiliations
Review

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

Sitki Cem Parlar et al. Mov Disord. 2023 Mar.

Abstract

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 Gaucher's disease (GD) or PD: severe, mild, and risk variant (for PD).

Objective: This review aims to generate and share a comprehensive database for GBA1 variants reported in PD to support future research and clinical trials.

Methods: We performed a literature search for all GBA1 variants that have been reported in PD. The data have been standardized and complemented with variant classification, odds ratio if available, and other data.

Results: We found 371 GBA1 variants reported in PD: 22 mild, 84 severe, 3 risk variants, and 262 of unknown status. We created a browser containing up-to-date information on these variants (https://pdgenetics.shinyapps.io/GBA1Browser/).

Conclusions: The classification and browser presented in this work should inform and support basic, translational, and clinical research on GBA1-PD. © 2023 International Parkinson and Movement Disorder Society.

Keywords: GBA; GBA1; Parkinson's disease; genetics.

PubMed Disclaimer

Conflict of interest statement

Relevant conflicts of interest/financial disclosures:

Z. G.-O. received consultancy fees from Lysosomal Therapeutics Inc. (LTI), Idorsia, Prevail Therapeutics, Inceptions Sciences (now Ventus), Neuron23, Handl Therapeutics, UCB, Ono Therapeutics, Denali, Bial Biotech, Guidepoint, Lighthouse, and Deerfield.

Figures

Figure 1.
Figure 1.. Flow chart of the literature search
Representation of the literature search in flowchart format, involving two sequential steps for screening: the removal of meta-analyses and review papers, and the removal of papers that do not contain novel GBA1 variants in PD patients. N=number of studies
Figure 2.
Figure 2.. Distribution of GBA1 variants reported in PD across the gene
Representation of the number of unique reported GBA1 variants on each exon (numbered 1–11) by clinical classification (Unknown, Severe, Mild, and Risk Variant).
See this image and copyright information in PMC

References

    1. Blauwendraat C, Nalls MA, Singleton AB. The genetic architecture of Parkinson’s disease. Lancet Neurol 2020;19(2):170–178. - PMC - PubMed
    1. Gan-Or Z, Amshalom I, Kilarski LL, et al. Differential effects of severe vs mild GBA mutations on Parkinson disease. Neurology 2015;84(9):880–887. - PMC - PubMed
    1. Do J, McKinney C, Sharma P, Sidransky E . Glucocerebrosidase and its relevance to Parkinson disease. Mol Neurodegener 2019;14(1):36. - PMC - PubMed
    1. Philippart M, Rosenstein B, Menkes JH. Isolation and Characterization of the Main Splenic Glycolipids in the Normal Organ and in Gaucher’s Disease: Evidence for the Site of Metabolic Block. J Neuropathol Exp Neurol 1965;24:290–303. - PubMed
    1. Rabey JM, Vardi J, Askenazi JJ, Streifler M. L-tryptophan administration in L-dopa-induced hallucinations in elderly Parkinsonian patients. Gerontology 1977;23(6):438–444. - PubMed

Publication types

Substances