Sustained response to deep brain stimulation in LRRK2 parkinsonism with the Y1699C mutation.
Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) is reported in G2019S leucine-rich repeat kinase 2 (LRRK2) parkinsonism, response to surgery in other LRRK2 mutations has not been previously reported. We present an affected individual from the Lincolnshire pedigree (Y1699C), on whom bilateral STN-DBS was performed to control severe motor fluctuations and dyskinesias. He showed a marked improvement in Unified Parkinson's Disease Rating Scale (UPDRS) Part III scores in the "on" and "off" states, sustained for more than three years. Bilateral STN-DBS in LRRK2-parkinsonism with the Y1699C mutation can be as effective as in sporadic PD.
Department of Neurosciences, Monash Medical Centre, Clayton, VIC, Australia.
L D
LD
Perju-Dumbrava
M
M
McDonald
A C
AC
Kneebone
R
R
Long
D
D
Thyagarajan
D046690:Deep Brain Stimulation; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics / Q000628:therapy*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D016896:Treatment Outcome
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases