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.

Clinical utility of a personalized and long-term monitoring device for Parkinson's disease in a real clinical practice setting: An expert opinion survey on STAT-ON™.

BACKGROUND: STAT-ON™ is an objective tool that registers ON-OFF fluctuations making possible to know the state of the patient at every moment of the day in normal life. Our aim was to analyze the opinion of different Parkinson's disease experts about the STAT-ON™ tool after using the device in a real clinical practice setting (RCPS). METHODS: STAT-ON™ was provided by the Company Sense4Care to Spanish neurologists for using it in a RCPS. Each neurologist had the device for at least three months and could use it in PD patients at his/her own discretion. In February 2020, a survey with 30 questions was sent to all participants. RESULTS: Two thirds of neurologists (53.8% females; mean age 44.9±9 years old) worked in a Movement Disorders Unit, the average experience in PD was 16±6.9 years, and 40.7% of them had previously used other devices. A total of 119 evaluations were performed in 114 patients (range 2-9 by neurologist; mean 4.5±2.3). STAT-ON™ was considered "quite" to "very useful" by 74% of the neurologists with an overall opinion of 6.9±1.7 (0, worst; 10, best). STAT-ON™ was considered better than diaries by 70.3% of neurologists and a useful tool for the identification of patients with advanced PD by 81.5%. Proper identification of freezing of gait episodes and falls were frequent limitations reported. CONCLUSION: STAT-ON™ could be a useful device for using in PD patients in clinical practice.

Clinical utility of a personalized and long-term monitoring device for Parkinson’s disease in a real clinical practice setting: An expert opinion survey on STAT-ON / Utilidad clínica del dispositivo para la monitorización personalizada de la enfermedad de Parkinson, STAT-ON, en condiciones de práctica clínica diaria: resultados de una encuesta de opinión de neurólogos expertos

Background: STAT-ON TM is an objective tool that registers ON-OFF fluctuations making possibleto know the state of the patient at every moment of the day in normal life. Our aim was toanalyze the opinion of different Parkinson’s disease experts about the STAT-ON TM tool afterusing the device in a real clinical practice setting (RCPS). Methods: STAT-ON TM was provided by the Company Sense4Care to Spanish neurologists for usingit in a RCPS. Each neurologist had the device for at least three months and could use it in PDpatients at his/her own discretion. In February 2020, a survey with 30 questions was sent to allparticipants. Results: Two thirds of neurologists (53.8% females; mean age 44.9 ± 9 years old) worked ina Movement Disorders Unit, the average experience in PD was 16 ± 6.9 years, and 40.7% ofthem had previously used other devices. A total of 119 evaluations were performed in 114patients (range 2—9 by neurologist; mean 4.5 ± 2.3). STAT-ON TM was considered ‘‘quite’’ to‘‘very useful’’ by 74% of the neurologists with an overall opinion of 6.9 ± 1.7 (0, worst; 10,best). STAT-ON TM was considered better than diaries by 70.3% of neurologists and a useful toolfor the identification of patients with advanced PD by 81.5%. Proper identification of freezingof gait episodes and falls were frequent limitations reported. Conclusion: STAT-ON TM could be a useful device for using in PD patients in clinical practice.(AU)

Introducción: STAT-ON es un dispositivo que registra las fluctuaciones on-off que permiteconocer el estado del paciente con enfermedad de Parkinson (EP) en cada momento del día.Nuestro objetivo fue analizar la opinión de diferentes expertos en EP sobre STAT-ON, después de usar el dispositivo en un entorno de práctica clínica real (PCR). Métodos: STAT-ON fue proporcionado por la compa ̃nía Sense4Care a neurólogos espa ̃noles para usarlo en PCR. Cada neurólogo dispuso del dispositivo durante al menos tres meses y podíausarlo en pacientes con EP, según su criterio. En febrero de 2020, se envió una encuesta con 30 preguntas a todos los participantes. Resultados: Dos tercios de los neurólogos (53,8% mujeres; edad promedio 44,9 ± 9 a ̃nos) trabajaban en una Unidad de Trastornos del Movimiento, con una experiencia en EP de 16 ± 6,9 a ̃nos, habiendo el 40,7% usado otros dispositivos previamente. Se realizaron un total de 119evaluaciones en 114 pacientes (rango dos a nueve por neurólogo; media 4,5 ± 2,3). STAT-ONfue considerado «bastante» a «muy útil» por el 74% de los neurólogos, con una opinión generalde 6,9 ± 1,7 (0, peor; 10, mejor). STAT-ON fue considerado mejor que los diarios por el 70,3% de los neurólogos y una herramienta útil para la identificación de pacientes con EP avanzadapor un 81,5%. La identificación adecuada de los episodios de congelación de la marcha y lascaídas fueron las limitaciones más reportadas.Conclusiones: STAT-ON podría ser un dispositivo útil para usar en la PCR.(AU)

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.

Apomorfina y disfunción frontal en la enfermedad de Parkinson / Apomorphine and frontal dysfunction in Parkinson’s disease

Introducción: El trastorno disejecutivo y la apatía son síntomas característicos de la disfunción frontal ligada a la enfermedad de Parkinson. El efecto de la infusión continua subcutánea de apomorfina en la disfunción frontal no se conoce con detalle. Desarrollo: Se ha realizado una búsqueda y análisis de los trabajos publicados más relevantes en este campo. La apomorfina logra mejorías en las pruebas que miden tareas como la planificación, la atención, la fluencia verbal y la apatía. Conclusiones: Debido a su perfil farmacológico distintivo, con mayor actividad sobre los receptores dopaminérgicos de tipo D1, la apomorfina puede resultar beneficiosa en la disfunción frontal de la enfermedad.(AU)

Introduction: Dysexecutive disorder and apathy are characteristic symptoms of frontal dysfunction linked to Parkinson’s disease. The effect of continuous subcutaneous apomorphine infusion is not known in detail. Development: A search for the most relevant studies published to date in this field was carried out, along with their analysis. Apomorphine achieves improvements in tests that measure tasks such as planning, attention, verbal fluency and apathy. Conclusions: Due to its distinctive pharmacological profile, with enhanced activity on D1-type dopaminergic receptors, apomorphine may have beneficial effects on the frontal dysfunction produced by the diseas.(AU)

[Apomorphine and frontal dysfunction in Parkinson's disease]. / Apomorfina y disfunción frontal en la enfermedad de Parkinson.

INTRODUCTION: Dysexecutive disorder and apathy are characteristic symptoms of frontal dysfunction linked to Parkinson's disease. The effect of continuous subcutaneous apomorphine infusion is not known in detail. DEVELOPMENT: A search for the most relevant studies published to date in this field was carried out, along with their analysis. Apomorphine achieves improvements in tests that measure tasks such as planning, attention, verbal fluency and apathy. CONCLUSIONS: Due to its distinctive pharmacological profile, with enhanced activity on D1-type dopaminergic receptors, apomorphine may have beneficial effects on the frontal dysfunction produced by the disease.

TITLE: Apomorfina y disfunción frontal en la enfermedad de Parkinson.Introducción. El trastorno disejecutivo y la apatía son síntomas característicos de la disfunción frontal ligada a la enfermedad de Parkinson. El efecto de la infusión continua subcutánea de apomorfina en la disfunción frontal no se conoce con detalle. Desarrollo. Se ha realizado una búsqueda y análisis de los trabajos publicados más relevantes en este campo. La apomorfina logra mejorías en las pruebas que miden tareas como la planificación, la atención, la fluencia verbal y la apatía. Conclusiones. Debido a su perfil farmacológico distintivo, con mayor actividad sobre los receptores dopaminérgicos de tipo D1, la apomorfina puede resultar beneficiosa en la disfunción frontal de la enfermedad.

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.

Clinical utility of a personalized and long-term monitoring device for Parkinson's disease in a real clinical practice setting: An expert opinion survey on STAT-ON™.

BACKGROUND: STAT-ON™ is an objective tool that registers ON-OFF fluctuations making possible to know the state of the patient at every moment of the day in normal life. Our aim was to analyze the opinion of different Parkinson's disease experts about the STAT-ON™ tool after using the device in a real clinical practice setting (RCPS). METHODS: STAT-ON™ was provided by the Company Sense4Care to Spanish neurologists for using it in a RCPS. Each neurologist had the device for at least three months and could use it in PD patients at his/her own discretion. In February 2020, a survey with 30 questions was sent to all participants. RESULTS: Two thirds of neurologists (53.8% females; mean age 44.9±9 years old) worked in a Movement Disorders Unit, the average experience in PD was 16±6.9 years, and 40.7% of them had previously used other devices. A total of 119 evaluations were performed in 114 patients (range 2-9 by neurologist; mean 4.5±2.3). STAT-ON™ was considered "quite" to "very useful" by 74% of the neurologists with an overall opinion of 6.9±1.7 (0, worst; 10, best). STAT-ON™ was considered better than diaries by 70.3% of neurologists and a useful tool for the identification of patients with advanced PD by 81.5%. Proper identification of freezing of gait episodes and falls were frequent limitations reported. CONCLUSION: STAT-ON™ could be a useful device for using in PD patients in clinical practice.

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

No disponible

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.

[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.

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.