Category: Parkinson's Disease: Genetics
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.
To cite this abstract in AMA style:
G. Yahalom, A. Faust-Socher, M. Cohen, Y. Schechter, M. Becker-Cohen, R. Eichel, S. Revel-Vilk, A. Zimran. A benign course of Parkinson’s disease associated with different mutations in the glucocerebrosidase gene – a case series [abstract]. Mov Disord. 2023; 38 (suppl 1). https://www.mdsabstracts.org/abstract/a-benign-course-of-parkinsons-disease-associated-with-different-mutations-in-the-glucocerebrosidase-gene-a-case-series/. Accessed December 11, 2024.« Back to 2023 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/a-benign-course-of-parkinsons-disease-associated-with-different-mutations-in-the-glucocerebrosidase-gene-a-case-series/