Objective: To study the white matter involvement in Parkinson’s patients with Glucocerebrosidase mutations (GBA-related PD).

Background: While Parkinson’s disease (PD) is a neurodegenerative disease with an essentially grey matter degeneration, there is a rising interest in the white matter involvement in the disease. Studies that used MRI Diffusion Tensor Imaging (DTI) technics to characterize the white matter integrity in PD, found significant differences between PD patients and healthy controls and suggested that it may be qualified as a marker for disease progression. Only one study used DTI to assess the white matter differences between idiopathic PD patients and patients with a GBA-related PD, finding differences that were mostly attributed to the cognitive differences between the groups.

Method: We analyzed DTI data from 11 patients with GBA-related PD, 104 non-genotyped PD patients (ngPD) and 25 healthy controls (HCs). All PD patients had motor fluctuations and did not have significant cognitive impairments. The tracts were generated using Automated Fiber Quantification (AFQ) for 20 automatic generated tracts. Statistical analysis was conducted with Student’s t-test and corrected for multiple comparisons along the tract.

Results: All fibers were successfully generated, with quantification of the Fractional Anisotropy (FA), Mean Diffusivity (MD), Radial Diffusivity (RD) and Axial Diffusivity (AD). We found significant differences between the ngPD patients and HCs that were similar to differences found in previous studies. We also found changes in the white matter integrity (e.g. in the corticospinal tracts) that differentiate between patients with the GBA-related PD and HCs and between patients with GBA-related PD and ngPD.

Conclusion: GBA-related PD patients with no significant cognitive impairment have significant changes in the white matter integrity that distinguish them either from healthy controls or from non-genotyped PD patients.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/diffusion-tensor-imaging-in-gba-related-parkinsons-disease/