Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.
Identifieur interne : 002A18 ( PubMed/Corpus ); précédent : 002A17; suivant : 002A19Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.
Auteurs : 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 BriceSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adult, Aged, Deep Brain Stimulation (methods), Female, Glycine (genetics), Humans, Male, Middle Aged, Mutation, Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology), Parkinsonian Disorders (therapy), Protein-Serine-Threonine Kinases (genetics), Retrospective Studies, Serine (genetics), Subthalamic Nucleus (physiology), Subthalamic Nucleus (surgery), Threonine (genetics).
- MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases, Serine, Threonine.
- genetics : Parkinsonian Disorders.
- methods : Deep Brain Stimulation.
- pathology : Parkinsonian Disorders.
- physiology : Subthalamic Nucleus.
- surgery : Subthalamic Nucleus.
- therapy : Parkinsonian Disorders.
- Adult, Aged, Female, Humans, Male, Middle Aged, Mutation, Retrospective Studies.
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.
DOI: 10.1002/mds.21178
PubMed: 17080443
Links to Exploration step
pubmed:17080443Le document en format XML
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<term>Parkinsonian Disorders (therapy)</term>
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<front><div type="abstract" xml:lang="en">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.</div>
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<Abstract><AbstractText>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.</AbstractText>
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