title: Effective long-term subthalamic stimulation in PARK8 positive Parkinson's disease.
abstract: Whether patients with genetically defined Parkinson's disease (PD) may be particularly eligible to benefit from deep brain stimulation of the nucleus subthalamicus (STN-DBS) is currently the subject of debate. We report on a patient with advanced PD due to R793M missense mutation in the LRRK2 gene successfully treated by STN-DBS. Disease onset was at age 42 with bradykinesia, rigidity and rest tremor. During the course of the disease he developed severe motor fluctuations, dyskinesias, postural instability with falls, but preserved levodopa responsiveness. At age 60 the patient was treated by bilateral DBS of the STN. At one year after surgery a 66% improvement of the UPDRS motor score in the off-medication state was determined. During the long-term follow-up there was sustained benefit with 56% improvement of motor score after 8 years. Our report adds evidence that patients with LRRK2 monogenetic Parkinsonism are well suited candidates for DBS treatment and may indicate a potential genetic predictor for positive long-term effect of STN-DBS treatment.
authors.forename: Sorin
authors.initials: S
authors.lastname: Breit
authors.forename: T
authors.initials: T
authors.lastname: Wächter
authors.forename: D
authors.initials: D
authors.lastname: Schmid-Bielenberg
authors.forename: D
authors.initials: D
authors.lastname: Weiss
authors.forename: P
authors.initials: P
authors.lastname: Leitner
authors.forename: T
authors.initials: T
authors.lastname: Nägele
authors.forename: D
authors.initials: D
authors.lastname: Freudenstein
authors.forename: T
authors.initials: T
authors.lastname: Gasser
authors.forename: R
authors.initials: R
authors.lastname: Krüger
mesh_terms: D004252:DNA Mutational Analysis; D004599:Electric Stimulation Therapy / Q000379:methods / Q000592:standards* / Q000706:statistics & numerical data; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy*; D011237:Predictive Value of Tests; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D020531:Subthalamic Nucleus / Q000033:anatomy & histology / Q000502:physiology; D013995:Time; D016896:Treatment Outcome
chemical_list: D005819:Genetic Markers; D007980:Levodopa; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases