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.

[Constraint-induced movement therapy in the rehabilitation of hemineglect after a stroke]. / Terapia del movimiento inducido por restricción en la rehabilitación de la heminegligencia después de un ictus.

INTRODUCTION: Hemineglect produces a lower capacity for recovery after the stroke and so far there are no rehabilitation techniques that have proven to be effective at functional level. AIMS: The main objective of this work was to assess whether the modified constraint-induced movement therapy (mCIMT)for hemineglect produces greater benefits than conventional therapy on functional hemineglect. Secondary objectives were to assess whether mCIMT produces greater benefits on upper and lower limb function as well as on the degree of autonomy and disability of patients with in relation to conventional therapy. PATIENTS AND METHODS: We have recruited 30 patients with ischemic stroke and diagnosis of hemineglect randomly assigned to mCIMT group (n = 15) or conventional therapy group (n = 15). We used the Catherine Bergego Scale (CBS) for assessment hemineglect; Fugl-Meyer tests for the motor function of lower and upper limb, and Barthel index and modified Rankin scale for the rest of objectives. RESULTS: We have found significant differences in favour of mCIMT group in the CBS after treatment and three months later once finished. We have not found differences between groups for the rest of variables. CONCLUSIONS: mCIMT could be a more effective therapy than conventional therapy to improve the symptoms of hemineglect in the acute stroke. However, it may be clinically more recommended in patients with a certain motor function after stroke.

TITLE: Terapia del movimiento inducido por restricción en la rehabilitación de la heminegligencia después de un ictus.Introducción. La heminegligencia produce una menor capacidad de recuperación después del ictus y hasta el momento no existen técnicas de rehabilitación que hayan demostrado ser funcionalmente efectivas. Objetivos. El objetivo principal de este trabajo fue valorar si la terapia de movimiento inducido por restricción modificada (TMIRm) para la heminegligencia produce mayores beneficios que la terapia convencional sobre la heminegligencia funcional. Los objetivos secundarios fueron evaluar si la TMIRm produce mayores beneficios en la función del miembro superior y del miembro inferior, así como sobre el grado de autonomía y discapacidad de los pacientes con respecto a la terapia convencional. Pacientes y métodos. Se seleccionó a 30 pacientes con ictus isquémico y diagnóstico de heminegligencia, que fueron asignados aleatoriamente al grupo de TMIRm (n = 15) o al grupo de terapia convencional (n = 15). Se empleó la Catherine Bergego Scale (CBS) para la valoración de la heminegligencia; las pruebas Fugl-Meyer para la función motora del miembro inferior y del miembro superior, y el índice de Barthel y la escala de Rankin modificada para el resto de los objetivos. Resultados. Se hallaron diferencias significativas en favor del grupo de TMIRm para la CBS en la valoración después del tratamiento y a los tres meses de finalizado. No se encontraron diferencias entre grupos para el resto de las variables. Conclusiones. La TMIRm podría ser una terapia más efectiva que la convencional para mejorar la sintomatología de la heminegligencia en la fase aguda del ictus. Sin embargo, podría ser clínicamente más recomendable en pacientes con una determinada función motora después del ictus.

Development and validation of a brief electronic screening test for cognitive impairment in multiple sclerosis (SCI-MS Test).

OBJECTIVE: Although cognitive impairment (CI) is common in multiple sclerosis (MS), it is difficult to suspect in patients with low disability and there is a lack of brief and effective CI screening tools with a define cut-off point to be used during routine clinic visits. This study aims to validate the Electronic Screening Cognitive Impairment in Multiple Sclerosis (SCI-MS) test for CI among MS patients. METHODS: Cross-sectional, observational study that included adult patients, diagnosed with MS, Expanded Disability Status Scale (EDSS) score ≤6.5, without relapses within the last 2 months and no depression symptoms. The SCI-MS test consists of two modules: questionnaire (SCI-MS-Q) and pictogram matching tool (SCI-MS-P) measured for score and time. At inclusion, patients completed the Beck Depression Inventory (BDI-II test), the Brief Repeatable Battery of Neuropsychological Test (BRB-N) and the SCI-MS. The SCI-MS feasibility, test-retest reliability and predictive validity were assessed. RESULTS: A total of 194 patients (59.3% female) were included: mean (SD) age of 42 (9) years, mean time since diagnosis of 10 (7) years, 89.7% relapsing-remitting MS, and median (Q1-Q3) EDSS of 2.0 (1.0-3.5). According to BRB-N, 26.8% of patients had CI. Internal consistency was high (Cronbach alpha: 0.97). The intra-class correlation coefficient was 0.88 for the SCI-MS-Q, 0.09 for the SCI-MS-P score and 0.48 for the SCI-MS-P time, corresponding to AUC of the ROC curves of 0.571, 0.574 and 0.714, respectively. For a clinically significant cut-off point of ≥60 seconds, the reached CI sensitivity of SCI-MS-P time was 0.75 and the specificity 0.51. CONCLUSION: SCI-MS showed good psychometric properties. SCI-MS-P time of pictogram completion had an acceptable diagnostic accuracy of CI in MS patients with low disability. SCI-MS-P time of pictogram completion tool is an easy and quick score that can help neurologists to early identify CI in MS patients that should be further assessed to confirm CI diagnosis and to describe its characteristics and mainly affected domains.

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.

[Donepezil therapy in patients with vascular and post-traumatic cognitive impairment: some clinical observations]. / Tratamiento con donepecilo en pacientes con deterioro cognitivo vascular y postraumático: observaciones clínicas.

INTRODUCTION: Donepezil is a procholinergic drug that slows down cognitive and functional impairment in patients with Alzheimer's disease. Little research has been carried out to study its effect in other types of neurobehavioural disorders. AIMS: The purpose of this study was to describe the response to donepezil therapy in patients with neurobehavioural disorders due to vascular and post-traumatic causes. CASE REPORTS: Donepezil was administered to four patients with mild cognitive impairment due to vascular causes, to two patients with vascular dementia and to two patients with post-traumatic dementia. Following an average time of four months, the effects exerted on the cognitive, functional and behavioural areas were evaluated. One patient did not tolerate the drug and another suffered an episode of congestive heart failure that gave rise to a moderate neurobehavioural exacerbation. Two patients underwent a moderate improvement, three patients showed a slight improvement and no changes were observed in one patient. In general, memory, attention, depression, apathy and psychotic traits tended to improve. Aggressiveness/irritability tended to get worse. The functional repercussions of these changes were negligible or inexistent. CONCLUSIONS: Treatment with donepezil improved cognition and conduct in patients with neurobehavioural disorders due to vascular or post-traumatic causes. These results will have to be confirmed and expanded by means of controlled studies, and research must continue into the characteristics of responding patients and the relevance of their responses.

Tratamiento con donepecilo en pacientes con deterioro cognitivo vascular y postraumático: observaciones clínicas / Donepezil therapy in patients with vascular and post-traumatic cognitive impairment: some clinical observations

Introducción. El donepecilo es un fármaco procolinérgico que atenúa el deterioro cognitivo y funcional en los pacientes con enfermedad de Alzheimer. Su efecto en otro tipo de trastornos neuroconductuales no se ha estudiado lo suficiente. Objetivo. Describir la respuesta al tratamiento con donepecilo en pacientes con alteraciones neuroconductuales de causa vascular y postraumática. Casos clínicos. Se pautó el donepecilo a cuatro pacientes con deterioro cognitivo ligero de causa vascular, a dos pacientes con demencia vascular y a dos pacientes con demencia postraumática. Tras un tiempo medio de cuatro meses, se evaluaron los efectos en las áreas cognitiva, funcional y conductual. Un paciente no toleró el fármaco y otro paciente desarrolló un episodio de insuficiencia cardíaca congestiva que provocó un empeoramiento neuroconductual moderado. Dos pacientes experimentaron una mejoría moderada, tres pacientes tuvieron una mejoría ligera y en un paciente no se observaron cambios. En general, se apreció una tendencia a la mejoría en la memoria, la atención, la depresión, la apatía y los rasgos psicóticos. La agresividad / irritabilidad tendió a empeorar. La repercusión funcional de estos cambios fue mínima o nula. Conclusiones. El tratamiento con donepecilo mejora la cognición y la conducta en pacientes con alteraciones neuroconductuales de causa vascular o postraumática. Se precisa confirmar y ampliar estos resultados mediante estudios controlados, así como seguir investigando en torno a las características de los pacientes respondedores, y a la relevancia de la respuesta (AU)

Introduction. Donepezil is a procholinergic drug that slows down cognitive and functional impairment in patients with Alzheimer’s disease. Little research has been carried out to study its effect in other types of neurobehavioural disorders. Aims. The purpose of this study was to describe the response to donepezil therapy in patients with neurobehavioural disorders due to vascular and post-traumatic causes. Case reports. Donepezil was administered to four patients with mild cognitive impairment due to vascular causes, to two patients with vascular dementia and to two patients with post-traumatic dementia. Following an average time of four months, the effects exerted on the cognitive, functional and behavioural areas were evaluated. One patient did not tolerate the drug and another suffered an episode of congestive heart failure that gave rise to a moderate neurobehavioural exacerbation. Two patients underwent a moderate improvement, three patients showed a slight improvement and no changes were observed in one patient. In general, memory, attention, depression, apathy and psychotic traits tended to improve. Aggressiveness/irritability tended to get worse. The functional repercussions of these changes were negligible or inexistent. Conclusions. Treatment with donepezil improved cognition and conduct in patients with neurobehavioural disorders due to vascular or post-traumatic causes. These results will have to be confirmed and expanded by means of controlled studies, and research must continue into the characteristics of responding patients and the relevance of their responses (AU)