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Parkin Mutation and Deep Brain Stimulation

E. Erdil, H. Omercikoglu, F. Bayraklı, D. Gunal (Istanbul, Turkey)

Meeting: MDS Virtual Congress 2021

Abstract Number: 723

Keywords: Deep brain stimulation (DBS), Parkinson’s

Category: Parkinson's Disease: Genetics

Objective: To investigate the clinical features of Parkin mutated patients who undergone subthalamic brain stimulation (DBS group) and pharmalogically treated only (Non-DBS group).

Background: The demonstrated features of Parkin patients are early age of onset, slow progression, abrupt motor fluctuations, and dyskinesias [1]. Early motor complications together with impulse control disorders (ICD) are the main problems in the management of Parkin-related PD patients. In this early age of onset and actively living group of patients, impulse control disorder restricts pharmacological treatment options and directs shortly this group of patients towards DBS treatment. Literature survey reveals lack of study regarding DBS treatment indications of patients with Parkin mutation.

Method: This study involves an investigation on patients having Parkin mutation between the years of 2019-2020 who were both with STN DBS indication and without DBS indication. Cross-sectional data were gathered at Marmara University Hospital, Movement Disorder Clinic, by examining patient files and hospital information system retrospectively. During the predetermined 12 months period, cases of parkin mutation counted for 15 patients of whom 4 have been STN DBS surgery indication based on CAPSIT-PD, put forward by a group of experts.

Results: The DBS group patients showed longer disease period and higher Hoehn and Yahr score. In both groups, ages of onset were similar.

In the DBS group, ICD was determined as surgery indication and with fine adjustment of neuromodulation, the problem disappeared. In the non-DBS group, the percentage of patients with ICD existing was only 18,1 % (n:4/11).

In the DBS group, RSBD was accompanied with ICD in 3 patients out of 4. In non-DBS group, RSBD was present only in %27,2 of patients (n:3/11).

Conclusion: In 4 patients with Parkin mutation, ICD, bringing about STN DBS treatment, was responsive to the neuromodulation. Diago and colleagues have demonstrated a higher risk of ICD occurrence for patients who has RSBD [2].This study is consistent with this finding indicating RSBD was accompanied with ICD in 3 patients out of 4 in the DBS group.

This study, including cross-sectional data on a limited number of patients, has shown that ICD development in relation with parkin mutation has been the most frequently observed STN DBS indication.

tablo

References: 1. Kim CY, Alcalay RN. Genetic forms of Parkinson’s Disease. Semin Neurol. 2017;37,135–146 2. Bellosta Diago E, Lopez del Val LJ, Santos Lasaosa S et al. Association between REM sleep behaviour disorder and impulse control disorder in patients with Parkinson’s disease Neurología. 2017;32(8):494-499

To cite this abstract in AMA style:

E. Erdil, H. Omercikoglu, F. Bayraklı, D. Gunal. Parkin Mutation and Deep Brain Stimulation [abstract]. Mov Disord. 2021; 36 (suppl 1). https://www.mdsabstracts.org/abstract/parkin-mutation-and-deep-brain-stimulation/. Accessed May 12, 2025.
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