Objective: Herein we describe 5 cases of GBA-related PD patients with a markedly benign course.

Background: Subjects carrying mutations in the GBA1 gene, whether in one or two alleles (Gaucher disease), pose a risk of developing Parkinson’s disease (PD). This type of GBA-related PD usually has a severe course, and patients tend to develop cognitive deficits faster.

Method: A database of all diagnosed PD patients in our center was established in 2020, including next-generation testing with a panel of 68 PD-linked genes for most patients. We searched our database, focusing on PD patients carrying either a single mutation or two mutations in the GBA1 gene. A benign course was defined as patients with a disease duration of at least 4 years, with HY≤3 and a MoCA score of ≥22.

Results: Out of 244 PD patients, 164 were genotyped. Twenty-three patients carried at least one mutation in the GBA1 gene, of whom 5 (4 males) were found with a benign course. The mean age was 67.6±12.3 years, mean age at onset was 62.6±11.3, and disease duration of 5.0±1.7 years. At their last assessment, mean MDS-UPDRS part 3 was 23.8±13.1, Hoehn & Yahr scale was 1.7±0.7 and MoCA score was 26.3±3.9. Anosmia was present in 4 patients. Urinary complaints, RBD and constipation were presented in 2 patients. PD family history was noted in 2 patients.

Conclusion: Despite the notion that GBA-PD has a severe course, there are some cases that show a benign course with preserved cognitive function even years after onset. We suggest that these patients may have another pathomechanism leading to PD, including an incidental GBA1 mutation carriage.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-benign-course-of-parkinsons-disease-associated-with-different-mutations-in-the-glucocerebrosidase-gene-a-case-series/