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Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.
Schüpbach, Michael; Lohmann, Ebba; Anheim, Mathieu; Lesage, Suzanne; Czernecki, Virginie; Yaici, Sadek; Worbe, Yulia; Charles, Perrine; Welter, Marie-Laure; Pollak, Pierre; Dürr, Alexandra; Agid, Yves; Brice, Alexis.
Afiliação
  • Schüpbach M; Centre d'Investigation Clinique, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.
Mov Disord ; 22(1): 119-22, 2007 Jan.
Article em En | MEDLINE | ID: mdl-17080443
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.
Assuntos
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Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Núcleo Subtalâmico / Transtornos Parkinsonianos / Estimulação Encefálica Profunda / Mutação Tipo de estudo: Observational_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2007 Tipo de documento: Article País de afiliação: França
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Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Núcleo Subtalâmico / Transtornos Parkinsonianos / Estimulação Encefálica Profunda / Mutação Tipo de estudo: Observational_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2007 Tipo de documento: Article País de afiliação: França