Objective: To report the long-term motor and cognitive outcome of two patients with GBA-associated Parkinson’s disease (PD) who underwent STN-DBS surgery.

Background: Recent studies suggest a negative impact of subthalamic nucleus Deep Brain Stimulation (STN-DBS) surgery on cognition in patients with heterozygous glucocerebrosidase (GBA) mutations.

Method: Case reports with video documentation and literature review.

Results: Patient 1: A 42-years-old female, with GBA-related PD (p.N370S), presented with right upper limb rest tremor and bradykinesia. Despite an initial good response to dopaminergic treatment, she developed refractory motor fluctuations and STN-DBS surgery was proposed. Pre-operative work-up didn’t reveal cognitive impairment (MoCA 29, DRS-2: 137) or neuropsychiatric symptoms, except for depression. At 57 years of age, she was submitted to STN-DBS surgery followed by significant clinical benefit. Neuropsychiatric evaluation was repeated at 18 months STN-DBS, showing no significant changes (MoCA 28, DRS-2: 134). Eight years after the surgery, she remains independent for daily living activities, with good motor response (MDS-UPDRS part III ON medication/ON stimulation: 13), and no cognitive decline (MoCA 26, DRS-2: 126).  

Patient 2: A 34-years-old female, with GBA-associated PD (p.L444P), presented with left upper limb rest tremor and bradykinesia. As the disease progressed, she developed motor fluctuations refractory to medical therapy. Neuropsychological evaluation revealed mild executive and verbal fluency impairment (MoCA 23, DRS-2: 136). She underwent STN-DBS surgery at 45 years-old with good clinical outcome. Neuropsychiatric evaluation at 24-months follow-up remained stable (MoCA 21, DRS-2: 127). Six years later, her good motor response has been maintained (MDS-UPDRS part III ON medication/ON stimulation: 16), without impact of cognitive impairment on activities of daily living (MoCA 22, DRS-2:125).

Conclusion: These cases highlight the favourable outcome after DBS for GBA-related PD. Cognitive and neuropsychiatric symptoms should be thoroughly addressed in preoperative evaluations of gene-positive patients. Further studies are needed for genotype, phenotype and clinical outcome correlation.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/subthalamic-nucleus-deep-brain-stimulation-in-gba-associated-parkinson-disease-cognitive-and-motor-follow-up-of-two-clinical-cases/