Asunto(s)
Astrocitoma/patología , Neoplasias Encefálicas/patología , Tronco Encefálico/patología , Enfermedad de Parkinson Secundaria/patología , Tálamo/patología , Anciano , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Astrocitoma/metabolismo , Neoplasias Encefálicas/metabolismo , Colina/metabolismo , Proteína Ácida Fibrilar de la Glía/metabolismo , Humanos , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Masculino , Enfermedad de Parkinson Secundaria/metabolismo , Tálamo/metabolismoRESUMEN
Whether patients with genetically defined Parkinson's disease (PD) may be particularly eligible to benefit from deep brain stimulation of the nucleus subthalamicus (STN-DBS) is currently the subject of debate. We report on a patient with advanced PD due to R793M missense mutation in the LRRK2 gene successfully treated by STN-DBS. Disease onset was at age 42 with bradykinesia, rigidity and rest tremor. During the course of the disease he developed severe motor fluctuations, dyskinesias, postural instability with falls, but preserved levodopa responsiveness. At age 60 the patient was treated by bilateral DBS of the STN. At one year after surgery a 66% improvement of the UPDRS motor score in the off-medication state was determined. During the long-term follow-up there was sustained benefit with 56% improvement of motor score after 8 years. Our report adds evidence that patients with LRRK2 monogenetic Parkinsonism are well suited candidates for DBS treatment and may indicate a potential genetic predictor for positive long-term effect of STN-DBS treatment.
Asunto(s)
Terapia por Estimulación Eléctrica/normas , Predisposición Genética a la Enfermedad/genética , Mutación Missense/genética , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/terapia , Proteínas Serina-Treonina Quinasas/genética , Análisis Mutacional de ADN , Terapia por Estimulación Eléctrica/métodos , Terapia por Estimulación Eléctrica/estadística & datos numéricos , Marcadores Genéticos/genética , Genotipo , Humanos , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina , Levodopa/uso terapéutico , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/fisiopatología , Valor Predictivo de las Pruebas , Núcleo Subtalámico/anatomía & histología , Núcleo Subtalámico/fisiología , Tiempo , Resultado del TratamientoRESUMEN
Postural and action tremor in peripheral neuropathy is characteristic of Roussy-Levy syndrome. A patient with a severe demyelinating neuropathy and disabling neuropathic tremor successfully treated by deep brain stimulation (DBS) is reported. Disease onset was at age 63 years with sensory symptoms and slight action tremor. Within the following 9 years a severe, drug resistant, postural and action tremor developed rendering the patient unable to feed himself. At age 72 years the patient was treated by bilateral DBS of the ventral intermediate thalamic nucleus, with a useful 30% reduction in tremor. The clinical benefit of the stimulation remained stable over a 1 year postoperative observation period.