Outcome of bilateral deep brain subthalamic stimulation in patients carrying the R1441G mutation in the LRRK2 dardarin gene.
OBJECTIVE
Deep brain subthalamic stimulation provides symptomatic relief to patients with Parkinson's disease. The present study analyzes the postoperative outcome of deep brain subthalamic stimulation in patients carrying the R1441G mutation in the leucine-rich repeat kinase-2 (LRRK2) (dardarin) gene.


METHODS
Five of the 48 patients treated in our unit carried a mutation in the LRRK2 (dardarin) gene. All five met the Core Assessment Program for Surgical Interventional Therapies criteria for inclusion in the surgical program. Pre- and postoperative assessment (6 mo) was made using the Unified Parkinson Disease Rating Scale II, Unified Parkinson Disease Rating Scale III, and Parkinson's Disease Questionnaire-39 scores, as well as the type and dosage of drugs used.


RESULTS
The response to L-dopa after 6 months was similar to the baseline in all four patients. One suffered a stroke four months after surgery and is not eligible for evaluation. The improvements in motor response, daily life activities, and quality of life were limited (18, 22, and 33%, respectively) and were lower than those of the control group (39, 45, and 41%, respectively).


CONCLUSIONS
Carriers of the R1441G mutation were clinically analogous to the rest of similarly operated patients with idiopathic Parkinson's disease. However, the response to deep brain subthalamic stimulation was worse among the former. The explanation for this negative result is unclear because all patients maintained an excellent response to L-dopa. Further larger studies are needed to confirm these findings.
Gómez-Esteban
Juan C
JC
Movement Disorders Unit, Neurology Service, Cruces Hospital, Baracaldo, Vizcaya, Spain. jgomeze@meditex.es
Lezcano
Elena
E
Zarranz
Juan J
JJ
González
Carmen
C
Bilbao
Gaizka
G
Lambarri
Imanol
I
Rodríguez
Olivia
O
Garibi
Jesús
J
D000328:Adult; D046690:Deep Brain Stimulation / Q000379:methods*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics* / Q000534:rehabilitation*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D020530:Subthalamus; D016896:Treatment Outcome
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases