Objective: *Background and objective
We conducted post-hoc analyses with data of the Levodopa in EArly Parkinson’s disease (LEAP) study to compare the rate of
disease progression in patients with early Parkinson’s disease (PD) with and without a
glucocerebrosidase (GBA) gene missense mutation over the course of 80 weeks.

Background: –

Method: The LEAP-study included 445 early PD patients who were not yet in need of symptomatic treatment.
In 418 of these patients, the GBA missense mutation carrier status was successfully determined.
Using mixed-effects regression models and regression models, respectively, adjusting for study
treatment, we analyzed the association between GBA missense mutation carrier status and disease
progression measured with the Unified Parkinson’s Disease Rating Scale (UPDRS), and the
association between GBA missense mutation carrier status and cognitive decline measured with the
Mini Mental State Examination (MMSE), both over the course of 80 weeks. At 80 weeks we
compared the prevalence of early signs of motor response fluctuations in patients with and without
GBA missense mutation.

Results: There were 54 patients with a GBA missense mutation (mean±SD age at baseline 66.8±8.2 years;
61% male) and 364 patients without mutation (mean±SD age at baseline 68.8±8.9 years; 72% male).
Baseline clinical characteristics were not statistically significant different. Patients with and without a
GBA missense mutation did not statistically significantly differ in change from baseline to 80 weeks
on the total UPDRS (difference -0.02 points; 95% CI -0.07 to 0.03; p = 0.42) and MMSE scores. At 80
weeks the prevalence of early signs of motor response fluctuations did not differ among patients
with and without a GBA missense mutation.

Conclusion: Over the course of 80 weeks, we did not find a difference in disease progression between early PD
patients with a GBA missense mutation and patients without a GBA mutation.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/association-of-glucocerebrosidase-genotype-and-disease-progression-in-early-parkinsons-disease-over-the-course-of-80-weeks/