Estimulación cerebral profunda subtalámica en un caso de enfermedad de Parkinson idiopática y esquizofrenia / Subthalamic deep brain stimulation in a case of idiopathic Parkinson’s disease and schizophrenia

Introducción La enfermedad de Parkinson (EP) y la esquizofrenia pueden coexistir. Los antipsicóticos bloquean los receptores D2 estriados, lo que inevitablemente agrava las manifestaciones de la EP. Caso clínico Presentamos el caso de un paciente con enfermedad de Parkinson idiopática y esquizofrenia, con pobre tolerancia a dosis mínimas de levodopa, que presentó una gran mejoría tras la estimulación cerebral profunda subtalámica bilateral (ECP-NST). La ECP-NST se consideró aquí, debido a la gravedad de este caso particular, como la única posibilidad de lograr una mejoría motora. Conclusiones El diagnóstico de EP idiopática se confirmó pese al tratamiento antidopaminérgico. La ECP-NST puede considerarse como una opción de tratamiento para las manifestaciones de la EP invalidantes, siempre y cuando la selección del paciente sea cuidadosa. (AU)

Introduction. Parkinson’s disease (PD) and schizophrenia can coexist. Antipsychotics block striatal D2 receptors, which inevitably aggravates the manifestations of PD.Case report. We report the case of a male patient with idiopathic Parkinson’s disease and schizophrenia, with poor tolerance to minimal doses of levodopa, who underwent a dramatic improvement after bilateral subthalamic deep brain stimulation (DBS-STN). DBS-STN was taken into consideration here, due to the severity of this particular case, as the only possible way to achieve motor improvement.Conclusions. The diagnosis of idiopathic PD was confirmed despite antidopaminergic treatment. DBS-STN can be considered a treatment option for disabling manifestations of PD, provided that a careful selection of patients is carried out. (AU)

[Subthalamic deep brain stimulation in a case of idiopathic Parkinson's disease and schizophrenia]. / Estimulación cerebral profunda subtalámica en un caso de enfermedad de Parkinson idiopática y esquizofrenia.

INTRODUCTION: Parkinson's disease (PD) and schizophrenia can coexist. Antipsychotics block striatal D2 receptors, which inevitably aggravates the manifestations of PD. CASE REPORT: We report the case of a male patient with idiopathic Parkinson's disease and schizophrenia, with poor tolerance to minimal doses of levodopa, who underwent a dramatic improvement after bilateral subthalamic deep brain stimulation (DBS-STN). DBS-STN was taken into consideration here, due to the severity of this particular case, as the only possible way to achieve motor improvement. CONCLUSIONS: The diagnosis of idiopathic PD was confirmed despite antidopaminergic treatment. DBS-STN can be considered a treatment option for disabling manifestations of PD, provided that a careful selection of patients is carried out..

TITLE: Estimulación cerebral profunda subtalámica en un caso de enfermedad de Parkinson idiopática y esquizofrenia.Introducción. La enfermedad de Parkinson (EP) y la esquizofrenia pueden coexistir. Los antipsicóticos bloquean los receptores D2 estriados, lo que inevitablemente agrava las manifestaciones de la EP. Caso clínico. Presentamos el caso de un paciente con enfermedad de Parkinson idiopática y esquizofrenia, con pobre tolerancia a dosis mínimas de levodopa, que presentó una gran mejoría tras la estimulación cerebral profunda subtalámica bilateral (ECP-NST). La ECP-NST se consideró aquí, debido a la gravedad de este caso particular, como la única posibilidad de lograr una mejoría motora. Conclusiones. El diagnóstico de EP idiopática se confirmó pese al tratamiento antidopaminérgico. La ECP-NST puede considerarse como una opción de tratamiento para las manifestaciones de la EP invalidantes, siempre y cuando la selección del paciente sea cuidadosa.

Evolución y tratamiento de la fase avanzada de una serie de pacientes con enfermedad de Parkinson LRRK2 / Progression and treatment of a series of patients with advanced LRRK2-associated Parkinson’s disease

Introducción: Las mutaciones en el gen LRRK2 se han relacionado tradicionalmente con unfenotipo benigno de la enfermedad de Parkinson (EP). En la fase avanzada, se ha descrito unarespuesta favorable a la estimulación cerebral profunda (ECP). Métodos: Retrospectivamente, hemos analizado las características clínicas y la evolución de14 pacientes con EP debida a mutaciones en LRRK2 (EP-LRRK2), 13 en G2019S y uno en I1371 V.Nueve de ellos, en fase avanzada, tuvieron una evolución media de 7, 2 a ̃nos hasta alcanzarla.Resultados: Siete pacientes fueron intervenidos de ECP subtalámica bilateral y dos recibierontratamiento con una terapia de infusión. Los pacientes portadores de la mutación G2019S mos-traron una excelente respuesta a la ECP, con una mejoría a los seis meses superior al 80% en laUnified Parkinson’s disease rating scale (UPDRS II y UPDRS III). Esta respuesta se ha mantenidoen el tiempo. El paciente con la mutación I1371 V mostraba un fenotipo grave de la enfermedad y su respuesta a la ECP ha sido moderada. Los pacientes con EP-LRRK2 en fase avanzadamostraron una afectación cognitiva predominantemente frontal con un deterioro significativodel lenguaje. Conclusiones: En nuestros pacientes con EP-LRRK2 hemos observado un fenotipo con una evolución más rápida a la fase avanzada de la enfermedad. Recalcamos la idoneidad de la ECPsubtalámica en estos casos.(AU)

Introduction: LRRK2 mutations have traditionally been associated with a benign phenotype ofParkinson’s disease (PD). Favourable responses to deep brain stimulation (DBS) are reported inthe advanced phase. Methods: We performed a retrospective analysis of the clinical characteristics and progressionof 13 patients with LRRK2-associated PD (13 with G2019S and one with I1371 V). Nine patientswere in the advanced phase, with a mean progression time of 7.2 years before reaching thisphase. Results: Seven patients underwent bilateral subthalamic DBS implantation, and two receivedinfusion treatment. Patients with mutation G2019S responded excellently to DBS, with UnifiedParkinson’s disease rating scale (UPDRS) II and III scores improving by 80% at six months. Thisresponse was sustained over time. The patient with mutation I1371 V had a severe phenotypeof the disease, and presented a moderate response to DBS. Patients with advanced LRRK2-associated PD showed predominantly frontal cognitive involvement, with significant languageimpairment. Conclusions: In these patients, progression was faster in the advanced stage of the disease.We emphasise the suitability of subthalamic DBS in the management of these patients.(AU)

Progression and treatment of a series of patients with advanced LRRK2-associated Parkinson's disease.

INTRODUCTION: LRRK2 mutations have traditionally been associated with a benign phenotype of Parkinson's disease (PD). Favourable responses to deep brain stimulation (DBS) are reported in the advanced phase. METHODS: We performed a retrospective analysis of the clinical characteristics and progression of 13 patients with LRRK2-associated PD (13 with G2019S and 1 with I1371V). Nine patients were in the advanced phase, with a mean progression time of 7.2 years before reaching this phase. RESULTS: Seven patients underwent bilateral subthalamic DBS implantation, and 2 received infusion treatment. Patients with mutation G2019S responded excellently to DBS, with Unified Parkinson's Disease Rating Scale (UPDRS) II and III scores improving by 80% at 6 months. This response was sustained over time. The patient with mutation I1371V had a severe phenotype of the disease, and presented a moderate response to DBS. Patients with advanced LRRK2-associated PD showed predominantly frontal cognitive involvement, with significant language impairment. CONCLUSIONS: In these patients, progression was faster in the advanced stage of the disease. We emphasise the suitability of subthalamic DBS in the management of these patients.

Progression and treatment of a series of patients with advanced LRRK2-associated Parkinson's disease. / Evolución y tratamiento de la fase avanzada de una serie de pacientes con enfermedad de Parkinson LRRK2.

INTRODUCTION: LRRK2 mutations have traditionally been associated with a benign phenotype of Parkinson's disease (PD). Favourable responses to deep brain stimulation (DBS) are reported in the advanced phase. METHODS: We performed a retrospective analysis of the clinical characteristics and progression of 13 patients with LRRK2-associated PD (13 with G2019S and one with I1371 V). Nine patients were in the advanced phase, with a mean progression time of 7.2 years before reaching this phase. RESULTS: Seven patients underwent bilateral subthalamic DBS implantation, and two received infusion treatment. Patients with mutation G2019S responded excellently to DBS, with Unified Parkinson's disease rating scale (UPDRS) II and III scores improving by 80% at six months. This response was sustained over time. The patient with mutation I1371 V had a severe phenotype of the disease, and presented a moderate response to DBS. Patients with advanced LRRK2-associated PD showed predominantly frontal cognitive involvement, with significant language impairment. CONCLUSIONS: In these patients, progression was faster in the advanced stage of the disease. We emphasise the suitability of subthalamic DBS in the management of these patients.

Intolerancia a la medicación dopaminérgica y estimulación cerebral profunda, a propósito de 3 casos / Intolerance to dopaminergic medication and deep brain stimulation: A report of 3 cases

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Enfermedad de Parkinson por sendas mutaciones en 2 genes relacionados con la degradación por lisosomas / Parkinson's disease secondary to 2 mutations of genes involved in lysosomal protein degradation

No disponible

[Chronic inflammatory demyelinating polyradiculoneuropathy associated with treatment using intraduodenal infusion of levodopa-carbidopa]. / Polirradiculoneuropatia desmielinizante inflamatoria cronica asociada al tratamiento con infusion intraduodenal de levodopa-carbidopa.

TITLE: Polirradiculoneuropatia desmielinizante inflamatoria cronica asociada al tratamiento con infusion intraduodenal de levodopa-carbidopa.

[Isolated paralysis of the hypoglossal nerve due to atlanto-occipital joint cysts]. / Paralisis aislada del nervio hipogloso ocasionada por quistes occipitoatloideos.

TITLE: Paralisis aislada del nervio hipogloso ocasionada por quistes occipitoatloideos.

[Outpatient establishment and initial management of treatment with intraduodenal levodopa-carbidopa infusion in advanced Parkinson's disease]. / Instauracion ambulatoria y manejo inicial del tratamiento con infusion intraduodenal de levodopa-carbidopa en la enfermedad de Parkinson avanzada.

INTRODUCTION: Treatment with intraduodenal levodopa-carbidopa infusion is one of the three therapies currently available for advanced Parkinson's disease. It optimizes the benefit of antiparkinsonian treatment by counteracting the negative effect of erratic gastric emptying on the absorption of oral levodopa. The purpose is to describe our outpatient protocol of treatment establishment. PATIENTS AND METHODS: In our unit we have implemented a protocol for the treatment with intradoudenal levodopa-carbidopa infusion without admission based on the development of a multidisciplinary circuit among the Neurology Service, the Digestive Endoscopy Unit and the Home Hospitalization Unit. RESULTS: Over one and a half year, we treated five patients with advanced Parkinson's disease. All of them remain on the medication and no significant side effect has taken place. CONCLUSION: The outpatient onset install of this treatment saves costs and avoids the negative impact of admission on the patient with advanced Parkinson's disease, in the same way that favors their adaptation and tolerability to it.

TITLE: Instauracion ambulatoria y manejo inicial del tratamiento con infusion intraduodenal de levodopa-carbidopa en la enfermedad de Parkinson avanzada.Introduccion. El tratamiento con infusion intraduodenal de levodopa-carbidopa es una de las tres terapias de que disponemos en la actualidad en la enfermedad de Parkinson avanzada. Optimiza el beneficio del tratamiento antiparkinsoniano al contrarrestar el efecto negativo que provoca el vaciado gastrico erratico sobre la absorcion de la levodopa oral. El objetivo es describir nuestro protocolo de instauracion del tratamiento de modo ambulatorio. Pacientes y metodos. En nuestra unidad hemos implementado un protocolo de instauracion del tratamiento con infusion continua de levodopa-carbidopa intestinal sin necesidad de ingreso hospitalario gracias al desarrollo de un circuito multidisciplinar entre el propio servicio de neurologia, la unidad de endoscopia digestiva y la unidad de hospitalizacion a domicilio. Resultados. En año y medio se trato a cinco pacientes con enfermedad de Parkinson avanzada. Todos ellos continuan con el tratamiento y no han tenido complicaciones significativas. Conclusion. La instauracion ambulatoria del tratamiento ahorra costes y evita el impacto negativo del ingreso en el paciente con enfermedad de Parkinson avanzada, de la misma manera que favorece su adaptacion y tolerancia a aquel.

Delayed complications of deep brain stimulation: 16-year experience in 249 patients.

BACKGROUND: Over the years, most of the deep brain stimulation (DBS) complications described have been mainly related to the surgery itself or the stimulation. Only a few authors have dealt with chronic complications or complications due to implanted material. METHODS: We retrospectively analyzed complications beyond the 1st month after surgery in 249 patients undergoing DBS at our site for 16 years, with 321 interventions overall. RESULTS: Our results show that infection is the most frequent delayed complication (12.5%), the pulse generator being the most common location. Lead breaks (9.3%) are the second most frequent complication. Symptomatic peri-lead edema and cyst formation were exceptional. CONCLUSIONS: The best knowledge about DBS complications allows for better solutions. In case of infection, conservative treatment or partial removal of the DBS system appears to be safe and reasonable. Intracranial complications related to DBS material such as peri-lead edema and cyst formation have a good prognosis. They may appear long after DBS implantation.

Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up.

BACKGROUND: Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the SGCE gene. MDS is characterized by mild dystonia and myoclonic jerks, and a constellation of psychiatric manifestations. Deep brain stimulation (DBS) of bilateral internal globus pallidus (GPi) has recently been introduced as a new and beneficial technique to improve motor symptoms in MDS. METHODS: We report three proven genetically MDS cases with successful response to DBS, and their clinical evolution over years. RESULTS: DBS improves significantly the Unified Myoclonus Rating Scale and Burke-Fahn-Marsden Dystonia Rating Scale in all three patients. This improvement is sustained over the years and no major adverse events were recorded. DBS stimulation parameters employed are justified and compared with cases reported throughout the literature. DISCUSSION: DBS of bilateral GPi is an effective and safe therapy to be considered in MDS refractory cases. Careful neuropsychological evaluation is essential inside the presurgery planning. Correct location of the DBS electrodes and individualized selection of stimulation parameters in each case are the main determinants of the best clinical response.

Enfermedad de Parkinson avanzada. Características clínicas y tratamiento. Parte I I / Advanced Parkinson's disease: Clinical characteristics and treatment. Part II

Introducción. Muchos de los pacientes con enfermedad de Parkinson (EP) presentan al cabo de varios años fluctuaciones y discinesias graves que requieren de terapias algo más agresivas como la estimulación cerebral profunda del núcleo subtalámico o globo pálido medial, la infusión continua de apomorfina y la infusión intestinal continua de levodopa-carbidopa. Objetivo: Establecer las indicaciones y resultados de las 3 técnicas disponibles en la actualidad para el tratamiento de la EP avanzada. Desarrollo: Revisión exhaustiva de los datos publicados en la literatura sobre las indicaciones y resultados de la estimulación cerebral profunda del núcleo subtalámico, infusión subcutánea de apomorfina e infusión intestinal continua de levodopa-carbidopa en pacientes con EP avanzada. Conclusiones: Aunque existen numerosos estudios que han descrito la eficacia de cada una de estas 3 técnicas, faltan estudios comparativos que permitan definir el candidato ideal para cada una de las técnicas (AU)

Introduction: Many patients who have had Parkinson's disease (PD) for several years will present severe motor fluctuations and dyskinesias which require more aggressive therapies. The different approaches which are now available include deep brain stimulation of the subthalamic nucleus or medial globus allidus, subcutaneous infusion of apomorphine, and intestinal infusion of levodopa-carbidopa. Objective: To define the indications and results for the 3 available therapies for advanced PD. Development: Exhaustive review of the literature concerning the indications and results of deep brain stimulation, subcutaneous apomorphine infusion and duodenal infusion of levodopa/carbidopa gel to treat patients with advanced Parkinson disease. Conclusions: Although numerous studies have confirmed the efficacy of the 3 different therapies in advanced PD, there are no comparative studies that would allow us to define the best candidate for each technique (AU)

Enfermedad de Parkinson avanzada. Características clínicas y tratamiento (parte I) / Advanced Parkinson’s disease: Clinical characteristics and treatment (part 1)

Introducción: Un porcentaje importante de pacientes con enfermedad de Parkinson (EP) desarrollan complicaciones motoras en forma de fluctuaciones motoras, discinesias y síntomas no motores al cabo de 3-5 años del inicio del tratamiento que resultan de difícil control terapéutico. Esta fase de la enfermedad ha sido definida por algunos autores como fase avanzada de la EP. Objetivo: Definir las características clínicas y los factores de riesgo que condicionan que una EP evolucione a un estadio avanzado. Desarrollo: Este documento de consenso se ha realizado mediante una búsqueda bibliográfica exhaustiva y discusión de los contenidos llevadas a cabo por un grupo de expertos en trastornos del movimiento de la Sociedad Española de Neurología coordinados por dos de los autores (JK y MRL). Conclusiones: La presencia de fluctuaciones motoras y discinesias graves, síntomas motores axiales resistentes a la levodopa y síntomas no motores, como los trastornos cognitivos, representan las principales manifestaciones fenotípicas de una EP Avanzada (AU)

Introduction: A large percentage of patients with Parkinson’s disease (PD) develop motor fluctuations, dyskinesias, and severe non-motor symptoms within 3 to 5 years of starting dopaminergic therapy, and these motor complications are refractory to treatment. Several authors refer to this stage of the disease as advanced Parkinson’s disease. Objective: To define the clinical manifestations of advanced PD and the risk factors for reaching this stage of the disease. Development: This consensus document has been prepared by using an exhaustive literature search and by discussion of the contents by an expert group on movement disorders of the Sociedad Española de Neurología (Spanish Neurology Society), coordinated by two of the authors (JK and MRL). Conclusions: Severe motor fluctuations and dyskinesias, axial motor symptoms resistant to levodopa, and cognitive decline are the main signs in the clinical phenotype of advanced PD (AU)

Advanced Parkinson's disease: clinical characteristics and treatment. Part II.

INTRODUCTION: Many patients who have had Parkinson's disease (PD) for several years will present severe motor fluctuations and dyskinesias which require more aggressive therapies. The different approaches which are now available include deep brain stimulation of the subthalamic nucleus or medial globus pallidus, subcutaneous infusion of apomorphine, and intestinal infusion of levodopa-carbidopa. OBJECTIVE: To define the indications and results for the 3 available therapies for advanced PD. DEVELOPMENT: Exhaustive review of the literature concerning the indications and results of deep brain stimulation, subcutaneous apomorphine infusion and duodenal infusion of levodopa/carbidopa gel to treat patients with advanced Parkinson disease. CONCLUSIONS: Although numerous studies have confirmed the efficacy of the 3 different therapies in advanced PD, there are no comparative studies that would allow us to define the best candidate for each technique.

[Advanced Parkinson's disease: clinical characteristics and treatment (part 1)]. / Enfermedad de Parkinson avanzada. Características clínicas y tratamiento (parte I).

INTRODUCTION: A large percentage of patients with Parkinson's disease (PD) develop motor fluctuations, dyskinesias, and severe non-motor symptoms within 3 to 5 years of starting dopaminergic therapy, and these motor complications are refractory to treatment. Several authors refer to this stage of the disease as advanced Parkinson's disease. OBJECTIVE: To define the clinical manifestations of advanced PD and the risk factors for reaching this stage of the disease. DEVELOPMENT: This consensus document has been prepared by using an exhaustive literature search and by discussion of the contents by an expert group on movement disorders of the Sociedad Española de Neurología (Spanish Neurology Society), coordinated by two of the authors (JK and MRL). CONCLUSIONS: Severe motor fluctuations and dyskinesias, axial motor symptoms resistant to levodopa, and cognitive decline are the main signs in the clinical phenotype of advanced PD.

[Neuroprotection in Parkinson's disease: analysis though group of experts' methodology]. / Neuroprotección en la enfermedad de Parkinson: análisis a través de la metodología de informadores clave.

INTRODUCTION: Currently used antiparkinsonian drugs neither stop nor slow-down the progressive nature of the disease. The final phase of PD is characterized by the presence of symptoms and signs resistant to dopaminergic agents, such as depression, dementia, freezing and falls. Therefore, it is urgent to develop therapies able to positively modify this outcome. Despite neuroprotection is a research priority in PD, no effective strategies have been found so far. METHOD: A key informants study was conducted. A group of experts in PD fulfilled a questionnaire of 10 questions to explore the most important topics related to neuroprotection. Afterwards a consensus about the current situation of neuroprotection in PD was established and future directions of development were suggested. RESULTS: Most of the answers emphasized the need of new concepts, the limitations of animal models and the difficulties in the difficulties in demonstrating a neuroprotective effects in humans owing to a lack of biomarkers. Some of the experts believe that we are already exerting a disease modifying effect. CONCLUSIONS: The concept of neuroprotection should be widened. Animal models should be improved. A reliable biomarker to start neuroprotective therapies long before the appearance of motor symptoms and to evaluate the neuroprotective effect of any therapy should be urgently developed.