Objective: The aim of this systematic review is to explore studies on the effects of DBS in genetic parkinsonism.

Background: Therapeutic strategies for Parkinson’s disease (PD) should be individualized to patients’ needs¹. Although it is clearly recognized that factors such as age, stage of the disease, and associated symptoms should influence therapy, it is unclear whether genetic background should guide specific therapy. Few studies have described the outcome of deep brain stimulation (DBS) in different genetic forms of PD.  Whether genetic PD benefits from surgical therapy in the same amount as sporadic PD is unclear.

Methods: A selective literature search for articles published from 2000 to 2016 using MEDLINE was performed. Articles were selected regarding the effects of DBS on: i) autosomal dominant or recessive forms of PD; ii) PD patients presenting with mutations associated with an increased PD susceptibility. Twenty-one articles were included. Data on motor outcome (UPDRS III), LEDD and motor complications (UPDRS IV) were retrieved.

Results: Age at onset ranged from 10 to 57 years-old and duration of disease at DBS implant from 4 to 45 years. The set of articles (n=22) reported the outcome for 44 patients with mutation in parkin gene, 37 patients with LRRK2 mutations, 3 patients with Pink1 mutations, 19 patients with mutation in GBA gene, 2 patients with SNCA mutations, 2 patients with mutation in the VPS35 gene and 1 patient with C9ORF72 mutation. Subthalamic nucleus was the DBS target in most of the studies (n=19). Follow-up ranged from 1 month to 10 years.

The improvement in UPDRS III ranged from 18% to 85.41%. Considering the short-term follow-up (up to 2 years), two studies reported less than 35% improvement, 35-70% improvement was noted in 12 studies and more than 75% improvement was observed in 2 studies (range: 18 to 85.41%). The motor improvement on long-term follow-up ranged from 15.79 to 88.89%. The rate of improvement in LEDD (at maximum 1 year follow-up) ranged from 44% to 93%. Dyskinesias improvement ranged from 20% to 100%.

Conclusions: Although the DBS response in the genetic PD patients was quite variable, most of the studies reported satisfactory outcomes (>35% improvement)². Limitations included uncontrolled and small sample studies. Additionally, due to heterogeneity of the studies, only qualitative analysis was performed. Larger, controlled studies are required to better investigate the response to DBS in genetic PD patients.

References: 1 – Giladi N, Mirelman A, Thaler A, Orr-Urtreger A. A Personalized Approach to Parkinson’s Disease Patients Based on Founder Mutation Analysis. Front Neurol. 2016 May 10;7:71. doi: 10.3389/fneur.2016.00071

2 – Krack P, Batir A, Van Blercom N, Chabardes S, Fraix V, Ardouin C, Koudsie A, Limousin PD, Benazzouz A LeBas JF, Benabid AL, Pollak P. Five-year follow-up of bilateral stimulation of the subthalamic nucleus in advanced Parkinson’s disease. N Engl J Med. 2003 Nov 13;349(20):1925-34.

« Back to 2017 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/effects-of-deep-brain-stimulation-in-genetic-parkinsonism/