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Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.
Authors:Michael Schüpbach  Ebba Lohmann  Mathieu Anheim  Suzanne Lesage  Virginie Czernecki  Sadek Yaici  Yulia Worbe  Perrine Charles  Marie-Laure Welter  Pierre Pollak  Alexandra Dürr  Yves Agid  Alexis Brice
Affiliation:1. Centre d′Investigation Clinique, H?pital de la Pitié‐Salpêtrière, AP‐HP, Paris, France;2. Fédération des Maladies du Système Nerveux, H?pital de la Pitié‐Salpêtrière, AP‐HP, Paris, France;3. INSERM U679, Neurology and Experimental Therapeutics, H?pital de la Pitié‐Salpêtrière, Paris, France;4. Département de Génétique, Cytogénétique et Embryologie, H?pital de la Pitié‐Salpêtrière, AP‐HP, Paris, France;5. Département de Neurologie, CHU de Grenoble, Grenoble, France;6. Université Pierre et Marie Curie, Faculté de Médecine, Paris, France;7. Université Pierre et Marie Curie, Faculté de Médecine, Paris, FranceINSERM U679, H?pital de la Salpêtrière, AP‐HP, 47, Boulevard de l′H?pital, 75651 Paris cedex 13, France
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.
Keywords:Parkinson's disease  genetics  LRRK2  dardarine  subthalamic nucleus  deep brain stimulation
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