Objective: To critically review studies applying neuroimaging to Glucocerebrosidase (GBA)-associated parkinsonism.

Background: Mutations in the GBA gene cause Gaucher disease (GD) and constitute the most frequent genetic risk factor for idiopathic Parkinson’s disease (iPD). Non-manifesting carriers of GBA mutations/variants (GBA-NMC) constitute a potential PD prodromal population, while PD patients carrying some GBA mutations/variants (GBA-PD) have a higher risk of a more aggressive disease course. Different neuroimaging techniques are emerging as potential biomarkers in PD and have been used to study GBA-associated parkinsonism.

Method: Literature search was performed using PubMed and EMBASE databases (7 February 2022). Studies reporting neuroimaging findings in GBA-PD, GD with and without parkinsonism and GBA-NMC were included.

Results: 35 studies were included. In longitudinal studies, GBA-PD patients show a more aggressive disease than iPD at both structural magnetic resonance imaging (MRI) and 123-FP-CIT single photon emission tomography (SPECT). Fluorodeoxyglucose positron emission tomography and brain perfusion studies reported a greater cortical involvement in GBA-PD compared to iPD. Overall, contrasting evidence is available regarding GBA-NMC in terms of imaging and clinical findings, although subtle differences have been reported compared with healthy controls with no mutations.

Conclusion: Although results must be interpreted with caution due to limitations of the studies, in line with previous clinical observations, GBA-PD showed a more aggressive disease progression in neuroimaging longitudinal studies compared to iPD. Cognitive impairment, a “clinical signature” of GBA-PD, seems to find its neuroimaging correlate in the greater cortical burden displayed by these patients as compared to iPD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/neuroimaging-in-glucocerebrosidase-associated-parkinsonism-a-systematic-review/