Deep brain stimulation for monogenic Parkinson's disease : a systematic review

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Kuusimäki , T , Korpela , J , Pekkonen , E , Martikainen , M H , Antonini , A & Kaasinen , V 2020 , ' Deep brain stimulation for monogenic Parkinson's disease : a systematic review ' , Journal of Neurology , vol. 267 , no. 4 , pp. 883-897 . https://doi.org/10.1007/s00415-019-09181-8

Title: Deep brain stimulation for monogenic Parkinson's disease : a systematic review
Author: Kuusimäki, Tomi; Korpela, Jaana; Pekkonen, Eero; Martikainen, Mika H.; Antonini, Angelo; Kaasinen, Valtteri
Other contributor: University of Helsinki, HUS Medical Imaging Center




Date: 2020-04
Language: eng
Number of pages: 15
Belongs to series: Journal of Neurology
ISSN: 0340-5354
DOI: https://doi.org/10.1007/s00415-019-09181-8
URI: http://hdl.handle.net/10138/314602
Abstract: Deep brain stimulation (DBS) is an effective treatment for Parkinson's disease (PD) patients with motor fluctuations and dyskinesias. The key DBS efficacy studies were performed in PD patients with unknown genotypes; however, given the estimated monogenic mutation prevalence of approximately 5-10%, most commonly LRRK2, PRKN, PINK1 and SNCA, and risk-increasing genetic factors such as GBA, proper characterization is becoming increasingly relevant. We performed a systematic review of 46 studies that reported DBS effects in 221 genetic PD patients. The results suggest that monogenic PD patients have variable DBS benefit depending on the mutated gene. Outcome appears excellent in patients with the most common LRRK2 mutation, p.G2019S, and good in patients with PRKN mutations but poor in patients with the more rare LRRK2 p.R1441G mutation. The overall benefit of DBS in SNCA, GBA and LRRK2 p.T2031S mutations may be compromised due to rapid progression of cognitive and neuropsychiatric symptoms. In the presence of other mutations, the motor changes in DBS-treated monogenic PD patients appear comparable to those of the general PD population.
Subject: Parkinson's disease
Monogenic
Genetic
Deep brain stimulation
SUBTHALAMIC NUCLEUS STIMULATION
SYNUCLEIN GENE DUPLICATION
CLINICAL PHENOTYPES
PINK1 MUTATIONS
GLOBUS-PALLIDUS
G2019S MUTATION
LRRK2
PATIENT
FREQUENCY
DELETION
3112 Neurosciences
3124 Neurology and psychiatry
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