Objective: The aim of this study was to evaluate the effect of the genetic status on the clinical outcome of PD patients undergoing DBS.

Background: Mutations in the LRRK2 and GBA gene are highly prevalent in Ashkenazi Jewish Parkinson’s disease (PD) patients. Deep brain stimulation (DBS) surgery is an effective treatment for a subgroup of PD patients. Genetic status of patients has not been assessed as part of the presurgical evaluation.

Methods: This retrospective study was conducted in the MDU at the Tel Aviv Sourasky Medical Center. PD patients who underwent DBS in the years 2005-2015 and had genetic testing for LRRK2 G2019S and GBA genes mutations were asked for permission to participate in the study. Assessment included evaluation of the medical records and clinical global impression of change questionnaire (CGIC) was completed via a telephone call with the patient and the caregiver.

Results: 55 Ashkenazi Jewish PD patients after subthalamic DBS (9 with LRRK2 G2019S mutation, 5 with one of the 7 frequent GBA mutations, 41 had no mutation) were evaluated. The three groups did not differ in the presurgical motor symptoms and in the Unified Parkinson’s Disease Rating Scale part 3OFF scores. No between groups differences were seen in the CGIC one, three and five years following DBS. One year following DBS, the majority of patients reported improvement in general condition (86%), OFF periods (94%), tremor (67%), gait (61%) and dyskinesia (47%). Improvement in general condition was lower three and five years following DBS (34% and 17% respectively). Deterioration in in general condition was reported in 8% patients one year following DBS and increased gradually to 35% after five years.

Conclusions: In this cohort the genetic status did not affect the clinical outcome of PD patients undergoing DBS surgery. Due to limitations of this study, further evaluation of a large cohort of patients in an extended prospective multicenter study is needed. *This poster has been presented in the Israeli Neurological association conference in 12.2017

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MDS Abstracts - https://www.mdsabstracts.org/abstract/effect-of-deep-brain-stimulation-on-clinical-outcome-in-parkinsons-disease-patients-with-different-genetic-status/