Objectives: To analyze the frequency of mutations associated with Parkinson's disease (PD) in a general PD population compared to patients with PD selected for deep brain stimulation (DBS) and evaluate the outcome of surgery.
Material and methods: A total of 630 consecutive patients with PD were genetically screened, and 60 had DBS surgery, 37 subthalamic nucleus (STN), 21 ventrointermediate nucleus of thalamus (VIM), and two globus pallidus internus (GPi).
Results: Mutations in LRRK2, PRKN, and PINK1 were found: the first two of these being overrepresented in STN-operated patients, but none being found in VIM-operated patients. Clinical outcome of the surgery was similar in patients with mutations compared to those without.
Conclusions: In a consecutive PD population, patients treated with STN-DBS are overrepresented for PD-related mutations and they seem to benefit from DBS as well as patients without mutations.
© 2010 John Wiley & Sons A/S.