Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.
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.
Schüpbach
Michael
M
Centre d'Investigation Clinique, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.
Lohmann
Ebba
E
Anheim
Mathieu
M
Lesage
Suzanne
S
Czernecki
Virginie
V
Yaici
Sadek
S
Worbe
Yulia
Y
Charles
Perrine
P
Welter
Marie-Laure
ML
Pollak
Pierre
P
Dürr
Alexandra
A
Agid
Yves
Y
Brice
Alexis
A
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
D013912:Threonine; D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine