title: Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.
abstract: Stimulation of the subthalamic nucleus (STN) improves motor signs in patients with levodopa-responsive Parkinson's disease (PD). Mutations in the leucine-rich repeat kinase-2 (LRRK2) gene cause Parkinsonism. We assessed 69 patients under STN stimulation and found heterozygous LRRK2 mutations in 9 (G2019S in 8 and T2031S in 1). The age at onset of PD, the clinical characteristics before or after neurosurgery, and the clinical response to STN stimulation were similar in both groups. Two patients with the G2019S LRRK2 mutation still benefited from STN stimulation, 9 and 10 years after surgery. Patients with LRRK2 mutations are, therefore, good candidates for STN stimulation.
authors.affiliation: Centre d'Investigation Clinique, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.
authors.forename: Michael
authors.initials: M
authors.lastname: Schüpbach
authors.forename: Ebba
authors.initials: E
authors.lastname: Lohmann
authors.forename: Mathieu
authors.initials: M
authors.lastname: Anheim
authors.forename: Suzanne
authors.initials: S
authors.lastname: Lesage
authors.forename: Virginie
authors.initials: V
authors.lastname: Czernecki
authors.forename: Sadek
authors.initials: S
authors.lastname: Yaici
authors.forename: Yulia
authors.initials: Y
authors.lastname: Worbe
authors.forename: Perrine
authors.initials: P
authors.lastname: Charles
authors.forename: Marie-Laure
authors.initials: ML
authors.lastname: Welter
authors.forename: Pierre
authors.initials: P
authors.lastname: Pollak
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dürr
authors.forename: Yves
authors.initials: Y
authors.lastname: Agid
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
mesh_terms: D000328:Adult; D000368:Aged; D046690:Deep Brain Stimulation / Q000379:methods*; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics / Q000473:pathology / Q000628:therapy; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012189:Retrospective Studies; D012694:Serine / Q000235:genetics; D020531:Subthalamic Nucleus / Q000502:physiology / Q000601:surgery*; D013912:Threonine / Q000235:genetics
chemical_list: D013912:Threonine; D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine