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)

Palliative care management in patients with Parkinson's disease and other movement disorders in Spain. National survey of neurologists.

INTRODUCTION: Palliative care in neurodegenerative diseases is useful but underused. The objective of this study is to know how palliative care (PC) is applied in Spain in order to identify limitations and unmet needs. MATERIALS AND METHODS: It is a descriptive, observational, cross-sectional study, anonymous survey type of 20 questions, directed and answered by neurologists dedicated to movement disorders (MD) in Spain. RESULTS: 58 responses were obtained from neurologists from 15 autonomous communities. 69% answered that they did not have a specialised MD nursing facility but did have a PC team in their centre (81%). No specific protocol for PC in MD was identified. All except one neurologist stated that they lacked sufficient training in PC, the main training need being the "advance directives explanation". Only 1 in 4 neurologists answered routinely explaining advance healthcare planning to their patients, recognising up to 84.5% of neurologists not knowing how to assess the patient's competence. 60.3% of those surveyed answered that between 10% and 30% of their patients would be candidates for PC, although 1 in 3 said they were not clear when to refer the patient to PC. 100% of neurologists affirmed the priority need to implement PC protocols in MD. CONCLUSIONS: Our study shows a formative deficit in PC in this area and in the care of the patient with movement disorders and their environment, and should serve as a starting point to develop consensual care protocols.

Validación de la versión española de la Escala Cognitiva de Montreal (MoCA) como herramienta de cribado de deterioro cognitivo asociado a la esclerosis múltiple / Validation of the Spanish-language version of the Montreal Cognitive Assessment as a screening test for cognitive impairment in multiple sclerosis

Introducción: Las baterías neuropsicológicas empleadas tradicionalmente para el diagnóstico del deterioro cognitivo (DC) en la esclerosis múltiple son pruebas complejas que conllevan mucho tiempo. Se necesitan test más simples para detectar el DC en la práctica clínica diaria.ObjetivoEvaluar la validez diagnóstica y la fiabilidad de la escala Montreal Cognitive Assessment (MoCA) como herramienta de cribado de DC en la esclerosis múltiple frente a la Batería Neuropsicológica Breve.Material y métodosSe seleccionaron 52 pacientes (61,5% mujeres, edad media [desviación estándar] 41,7 [11,5] años). Se analizaron la fiabilidad (consistencia interna, interobservador y test-retest) y la validez de constructo (análisis factorial, coeficiente de correlación de Pearson y coeficiente de determinación) y de criterio (curva ROC, sensibilidad, especificidad, acuerdo global, valores predictivos positivo y negativo, cocientes de probabilidad positivo y negativo y nomograma de Fagan).ResultadosLa prevalencia de DC fue del 21,2% según la Batería Neuropsicológica Breve y del 25% según el MoCA. El MoCA mostró buena consistencia interna (alfa de Cronbach 0,822) y buena fiabilidad interobservador y test-retest (coeficiente de correlación intraclase de 0,80 y 0,96, respectivamente). El coeficiente de correlación entre la puntuación total de la Batería Neuropsicológica Breve y el MoCA fue de 0,82. El punto óptimo de corte en la curva ROC fue 25-26, con una sensibilidad del 91% y una especificidad del 93%.ConclusiónEl MoCA es una herramienta de cribado válida y fiable para la detección de DC en pacientes con esclerosis múltiple. (AU)

Introduction: The neuropsychological batteries traditionally used for the assessment of cognitive impairment (CI) in patients with multiple sclerosis are complex tests requiring a long time to administer. Simpler tests are needed to detect cognitive impairment in daily clinical practice.ObjectiveWe aimed to evaluate the diagnostic validity and reliability of the Montreal Cognitive Assessment (MoCA) test as a screening tool for CI in patients with multiple sclerosis, as compared against the Brief Neuropsychological Battery.Material and methodsWe recruited 52 patients with multiple sclerosis (61.5% women; mean age [standard deviation]: 41.7 [11.5] years). We analysed the reliability (internal consistency, interobserver reliability, and test-retest reliability), construct validity (factor analysis, Pearson correlation coefficient, and coefficient of determination), and criterion validity (ROC curve, sensitivity, specificity, total agreement, positive and negative predictive values, positive and negative likelihood ratios, and Fagan nomogram) of the MoCA test in this population.ResultsThe prevalence of CI was 21.2% according to findings from the Brief Neuropsychological Battery, and 25% according to the MoCA test. The MoCA test showed good internal consistency (Cronbach alpha, 0.822) and interobserver and test-retest reliability (intraclass correlation coefficient 0.80 and 0.96, respectively). The correlation coefficient between total Brief Neuropsychological Battery and MoCA test scores was 0.82. The optimal cut-off point on the ROC curve was 25-26, yielding 91% sensitivity and 93% specificity.ConclusionThe MoCA test is a valid and reliable tool for screening for CI in patients with multiple sclerosis. (AU)

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.

INTRODUCTION: Autosomal recessive spinocerebellar ataxia type 8 (ARCA1/SCAR8) is caused by mutations of the SYNE1 gene. The disease was initially described in families from Quebec (Canada) with a phenotype of pure cerebellar syndrome, but in recent years has been reported with a more variable clinical phenotype in other countries. Cases have recently been described of muscular dystrophy, arthrogryposis, and cardiomyopathy due to SYNE1 mutations. OBJECTIVE: To describe clinical and molecular findings from 4 patients (3 men and one woman) diagnosed with ARCA1/SCAR8 from 3 Spanish families from different regions. MATERIAL AND METHODS: We describe the clinical, paraclinical, and genetic results from 4 patients diagnosed with ARCA1/SCAR8 at different Spanish neurology departments. RESULTS: Onset occurred in the third or fourth decade of life in all patients. After 15 years of progression, 3 patients presented pure cerebellar syndrome, similar to the Canadian patients; the fourth patient, with over 30 years' progression, presented vertical gaze palsy, pyramidal signs, and moderate cognitive impairment. In all patients, MRI studies showed cerebellar atrophy. The genetic study revealed distinct pathogenic SYNE1 mutations in each family. CONCLUSIONS: ARCA1/SCAR8 can be found worldwide and may be caused by many distinct mutations in the SYNE1 gene. The disease may manifest with a complex phenotype of varying severity.

Validation of the Spanish-language version of the Montreal Cognitive Assessment as a screening test for cognitive impairment in multiple sclerosis.

BACKGROUND: The neuropsychological batteries traditionally used for the assessment of cognitive impairment (CI) in patients with multiple sclerosis are complex tests requiring a long time to administer. Simpler tests are needed to detect cognitive impairment in daily clinical practice. OBJECTIVE: We aimed to evaluate the diagnostic validity and reliability of the Montreal Cognitive Assessment (MoCA) test as a screening tool for CI in patients with multiple sclerosis, as compared against the Brief Neuropsychological Battery. MATERIAL AND METHODS: We recruited 52 patients with multiple sclerosis (61.5% women; mean age [standard deviation]: 41.7 [11.5] years). We analysed the reliability (internal consistency, interobserver reliability, and test-retest reliability), construct validity (factor analysis, Pearson correlation coefficient, and coefficient of determination), and criterion validity (ROC curve, sensitivity, specificity, total agreement, positive and negative predictive values, positive and negative likelihood ratios, and Fagan nomogram) of the MoCA test in this population. RESULTS: The prevalence of CI was 21.2% according to findings from the Brief Neuropsychological Battery, and 25% according to the MoCA test. The MoCA test showed good internal consistency (Cronbach alpha, 0.822) and interobserver and test-retest reliability (intraclass correlation coefficient 0.80 and 0.96, respectively). The correlation coefficient between total Brief Neuropsychological Battery and MoCA test scores was 0.82. The optimal cut-off point on the ROC curve was 25-26, yielding 91% sensitivity and 93% specificity. CONCLUSION: The MoCA test is a valid and reliable tool for screening for CI in patients with multiple sclerosis.

Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: Parte 1 / Management of Parkinson's disease and other movement disorders in woman of childbearing age: Part 1

INTRODUCCIÓN: El manejo de la enfermedad de Parkinson en la mujer en edad fértil nos plantea como principal reto el manejo de la enfermedad y los fármacos durante el embarazo y lactancia. El aumento de la edad gestacional de la mujer hace más probable que la incidencia de embarazos pueda incrementarse. OBJETIVO: Definir las características clínicas y los factores que condicionan la vida de la mujer en edad fértil con enfermedad de Parkinson y definir una guía de actuación y manejo del embarazo en estas pacientes. RESULTADOS: Este documento de consenso se ha realizado mediante una búsqueda bibliográfica exhaustiva y discusión de los contenidos realizados por un grupo de expertos en trastornos del movimiento de la Sociedad Española de Neurología. CONCLUSIONES: La enfermedad de Parkinson afecta a todos los aspectos relacionados con la salud sexual y reproductiva de la mujer en edad fértil. Se debe planificar el embarazo en las mujeres con enfermedad de Parkinson para minimizar los riesgos teratogénicos sobre el feto. Se recomienda un abordaje multidisciplinar de estas pacientes para tener en cuenta todos los aspectos implicados

INTRODUCTION: The main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future. OBJECTIVES: This study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients. RESULTS: This consensus document was developed through an exhaustive literature search and a discussion of the available evidence by a group of movement disorder experts from the Spanish Society of Neurology. CONCLUSIONS: Parkinson's disease affects all aspects of sexual and reproductive health in women of childbearing age. Pregnancy should be well planned to minimise teratogenic risk. A multidisciplinary approach should be adopted in the management of these patients in order to take all relevant considerations into account

Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: parte 2 / Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2

INTRODUCCIÓN: Muchas enfermedades que cursan con trastornos del movimiento hipercinético comienzan o afectan a mujeres en edad fértil. Es importante conocer los riesgos que tienen las mujeres con estas enfermedades durante el embarazo, así como los posibles efectos de los tratamientos sobre el feto. OBJETIVOS: Definir las características clínicas y los factores que condicionan la vida de la mujer en edad fértil con distonía, corea, síndrome de Tourette, temblor y síndrome de piernas inquietas. Definir una guía de actuación y manejo del embarazo y lactancia en las pacientes con esta enfermedad. 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 (SEN). CONCLUSIONES: En todas las mujeres que padecen o comienzan con trastornos del movimiento hipercinéticos se debe valorar el riesgo-beneficio de los tratamientos, reducir al máximo la dosis eficaz o administrarlo de forma puntual en los casos en que sea posible. En aquellas enfermedades de causa hereditaria es importante un consejo genético para las familias. Es importante reconocer los trastornos del movimiento desencadenados durante el embarazo como determinadas coreas y síndrome de piernas inquietas

INTRODUCTION: Many diseases associated with hyperkinetic movement disorders manifest in women of childbearing age. It is important to understand the risks of these diseases during pregnancy, and the potential risks of treatment for the fetus. OBJECTIVES: This study aims to define the clinical characteristics and the factors affecting the lives of women of childbearing age with dystonia, chorea, Tourette syndrome, tremor, and restless legs syndrome, and to establish guidelines for management of pregnancy and breastfeeding in these patients. RESULTS: This consensus document was developed through an exhaustive literature search and a discussion of the content by a group of movement disorder experts from the Spanish Society of Neurology. CONCLUSIONS: We must evaluate the risks and benefits of treatment in all women with hyperkinetic movement disorders, whether pre-existing or with onset during pregnancy, and aim to reduce effective doses as much as possible or to administer drugs only when necessary. In hereditary diseases, families should be offered genetic counselling. It is important to recognise movement disorders triggered during pregnancy, such as certain types of chorea and restless legs syndrome

Management of Parkinson's disease and other movement disorders in woman of childbearing age: Part 1. / Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: Parte 1.

INTRODUCTION: The main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future. OBJECTIVES: This study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients. RESULTS: This consensus document was developed through an exhaustive literature search and a discussion of the available evidence by a group of movement disorder experts from the Spanish Society of Neurology. CONCLUSIONS: Parkinson's disease affects all aspects of sexual and reproductive health in women of childbearing age. Pregnancy should be well planned to minimise teratogenic risk. A multidisciplinary approach should be adopted in the management of these patients in order to take all relevant considerations into account.

Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2. / Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: parte 2.

INTRODUCTION: Many diseases associated with hyperkinetic movement disorders manifest in women of childbearing age. It is important to understand the risks of these diseases during pregnancy, and the potential risks of treatment for the fetus. OBJECTIVES: This study aims to define the clinical characteristics and the factors affecting the lives of women of childbearing age with dystonia, chorea, Tourette syndrome, tremor, and restless legs syndrome, and to establish guidelines for management of pregnancy and breastfeeding in these patients. RESULTS: This consensus document was developed through an exhaustive literature search and a discussion of the content by a group of movement disorder experts from the Spanish Society of Neurology. CONCLUSIONS: We must evaluate the risks and benefits of treatment in all women with hyperkinetic movement disorders, whether pre-existing or with onset during pregnancy, and aim to reduce effective doses as much as possible or to administer drugs only when necessary. In hereditary diseases, families should be offered genetic counselling. It is important to recognise movement disorders triggered during pregnancy, such as certain types of chorea and restless legs syndrome.

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 experience in the treatment of motor fluctuations in Parkinson's disease. Delphi consensus of a group of experts in movement disorders]. / Experiencia clínica en el tratamiento de las fluctuaciones motoras en la enfermedad de Parkinson. Consenso Delphi de un grupo de expertos en trastornos del movimiento.

INTRODUCTION: Motor fluctuations are one of the most common complications of Parkinson's disease and their treatment is still a complex matter. Therefore, from the Neurology Movement Disorders Group we present our clinical experience in the treatment of these complications, with the intention of it being useful in decision-making in daily clinical practice. DEVELOPMENT: Nineteen questions were developed based on a literature review and an open survey answered by members of this group. These issues were discussed in two phases, using the Delphi methodology. Considering the results of the survey, levodopa dose adjustment and dopamine agonists are the option with the best efficacy/tolerability ratio in the treatment of motor fluctuations. Rotigotine is useful in the motor fluctuations associated with gastroparesis, and intermittent subcutaneous apomorphine has positive effects in patients with unpredictable off periods. The most relevant adverse effect associated with dopamine agonists is impulse control disorder. Catechol-O-methyltransferase inhibitors are useful in the initial stages of motor fluctuations, especially in wearing off. Monoamine oxidase inhibitors are generally drugs that are well-tolerated and useful in motor fluctuations. If these measures are not effective, second-line treatments should be indicated on a case-by-case basis. CONCLUSION: The clinical profile of patients with Parkinson's disease is paramount in deciding the most appropriate therapy for the treatment of motor fluctuations.

TITLE: Experiencia clínica en el tratamiento de las fluctuaciones motoras en la enfermedad de Parkinson. Consenso Delphi de un grupo de expertos en trastornos del movimiento.Introducción. Las fluctuaciones motoras son una de las complicaciones más frecuentes en la enfermedad de Parkinson y su tratamiento sigue siendo complejo. Por ello, desde el Grupo de Trastornos del Movimiento de la Asociación Madrileña de Neurología presentamos nuestra experiencia clínica en el tratamiento de estas complicaciones, con la intención de que sea de utilidad en la toma de decisiones en la práctica clínica diaria. Desarrollo. Se elaboraron 19 preguntas a partir de una revisión bibliográfica y una encuesta abierta respondida por los miembros de dicho grupo. Dichas cuestiones se debatieron en dos fases, utilizando la metodología Delphi. Considerando los resultados de la encuesta, el ajuste de la dosis de levodopa y los agonistas dopaminérgicos son la opción con mejor relación eficacia/tolerabilidad en el tratamiento de las fluctuaciones motoras. La rotigotina es útil en las fluctuaciones motoras asociadas a gastroparesia, y la apomorfina subcutánea intermitente, en pacientes con off impredecible. El efecto adverso más relevante asociado a los agonistas dopaminérgicos es el trastorno del control de impulsos. Los inhibidores de la catecol-O-metiltransferasa son útiles en las fluctuaciones motoras de inicio, especialmente en el wearing off. Los inhibidores de la monoaminooxidasa son fármacos, en general, bien tolerados y útiles en las fluctuaciones motoras. En caso de que estas medidas no resulten eficaces, se deben indicar terapias de segunda línea de manera individualizada. Conclusión. El perfil clínico del paciente con enfermedad de Parkinson es primordial para decidir la terapia más adecuada en el tratamiento de las fluctuaciones motoras.

Polaquiuria como tic motor complejo en un paciente con síndrome de Tourette / Pollakiuria as a complex motor tic in a patient with Tourette síndrome

No disponible

Validation of the Spanish-language version of the Montreal Cognitive Assessment as a screening test for cognitive impairment in multiple sclerosis. / Validación de la versión española de la Escala Cognitiva de Montreal (MoCA) como herramienta de cribado de deterioro cognitivo asociado a la esclerosis múltiple.

INTRODUCTION: The neuropsychological batteries traditionally used for the assessment of cognitive impairment (CI) in patients with multiple sclerosis are complex tests requiring a long time to administer. Simpler tests are needed to detect cognitive impairment in daily clinical practice. OBJECTIVE: We aimed to evaluate the diagnostic validity and reliability of the Montreal Cognitive Assessment (MoCA) test as a screening tool for CI in patients with multiple sclerosis, as compared against the Brief Neuropsychological Battery. MATERIAL AND METHODS: We recruited 52 patients with multiple sclerosis (61.5% women; mean age [standard deviation]: 41.7 [11.5] years). We analysed the reliability (internal consistency, interobserver reliability, and test-retest reliability), construct validity (factor analysis, Pearson correlation coefficient, and coefficient of determination), and criterion validity (ROC curve, sensitivity, specificity, total agreement, positive and negative predictive values, positive and negative likelihood ratios, and Fagan nomogram) of the MoCA test in this population. RESULTS: The prevalence of CI was 21.2% according to findings from the Brief Neuropsychological Battery, and 25% according to the MoCA test. The MoCA test showed good internal consistency (Cronbach alpha, 0.822) and interobserver and test-retest reliability (intraclass correlation coefficient 0.80 and 0.96, respectively). The correlation coefficient between total Brief Neuropsychological Battery and MoCA test scores was 0.82. The optimal cut-off point on the ROC curve was 25-26, yielding 91% sensitivity and 93% specificity. CONCLUSION: The MoCA test is a valid and reliable tool for screening for CI in patients with multiple sclerosis.

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain. / Heredoataxia cerebelosa recesiva ARCA1/SCAR8: primeras familias detectadas en España.

INTRODUCTION: Autosomal recessive spinocerebellar ataxia type 8 (ARCA1/SCAR8) is caused by mutations of the SYNE1 gene. The disease was initially described in families from Quebec (Canada) with a phenotype of pure cerebellar syndrome, but in recent years has been reported with a more variable clinical phenotype in other countries. Cases have recently been described of muscular dystrophy, arthrogryposis, and cardiomyopathy due to SYNE1 mutations. OBJECTIVE: To describe clinical and molecular findings from 4 patients (3 men and one woman) diagnosed with ARCA1/SCAR8 from 3 Spanish families from different regions. MATERIAL AND METHODS: We describe the clinical, paraclinical, and genetic results from 4 patients diagnosed with ARCA1/SCAR8 at different Spanish neurology departments. RESULTS: Onset occurred in the third or fourth decade of live in all patients. After 15 years of progression, 3 patients presented pure cerebellar syndrome, similar to the Canadian patients; the fourth patient, with over 30 years' progression, presented vertical gaze palsy, pyramidal signs, and moderate cognitive impairment. In all patients, MRI studies showed cerebellar atrophy. The genetic study revealed distinct pathogenic SYNE1 mutations in each family. CONCLUSIONS: ARCA1/SCAR8 can be found worldwide and may be caused by many distinct mutations in the SYNE1 gene. The disease may manifest with a complex phenotype of varying severity.

Informe de la Fundación del Cerebro sobre el impacto social de la enfermedad de Parkinson en España / The social impact of Parkinson's disease in Spain: Report by the Spanish Foundation for the Brain

INTRODUCCIÓN: Conocer el alcance socieoeconómico de la enfermedad de Parkinson es esencial para la planificación de recursos y concienciación social. Desarrollo: Se ha realizado una revisión de los datos publicados hasta el momento sobre epidemiología, morbimortalidad, dependencia e impacto económico de la enfermedad de Parkinson en España. Además se ha llevado a cabo un estudio cuyo objetivo principal ha sido definir los recursos asistenciales públicos y privados que tienen los afectados por la enfermedad de Parkinson en nuestro país mediante una encuesta por mail a todos los neurólogos con dedicación especial a esta enfermedad, pertenecientes al grupo de Trastornos del Movimiento de la Sociedad Española de Neurología. CONCLUSIONES: La enfermedad de Parkinson en España tiene una incidencia y prevalencia similar al resto de Europa. Con la estimación de población actual se obtiene que debe haber en España al menos 300.000 pacientes con enfermedad de Parkinson y a al menos un nuevo caso por 10.000 habitantes año. Esta produce gran impacto en la calidad de vida del paciente y aumenta a casi el doble la mortalidad de los pacientes. Además supone un coste económico muy importante para el país, que puede llegar hasta más de 17.000 € anuales por paciente y que con el envejecimiento de la población y las nuevas terapias va a ir incrementándose. Los profesionales y administraciones realizan un gran esfuerzo para proporcionar una asistencia de calidad a los pacientes. A pesar de ello es mucho el camino que nos queda por recorrer para que una asistencia de calidad, eficaz y multidisciplinar sea universal para todos los pacientes con esta enfermedad

INTRODUCTION: Understanding the social and economic impact of Parkinson's disease is essential for resource planning and raising social awareness. Development: Researchers reviewed the data published to date on epidemiology, morbidity and mortality, dependency, and economic impact of Parkinson's disease in Spain. In addition, a study has been carried out in order to define the public and private health care resources of Spanish patients affected by Parkinson's disease by means of an e-mail survey of all neurologists specialising in this disease and belonging to the Spanish Society of Neurology's study group for movement disorders. CONCLUSIONS: The incidence and prevalence rates of Parkinson's disease in Spain are similar to those in the rest of Europe. According to current population estimates, there are at least 300.000 patients with Parkinson's disease and one new case per 10.000 habitants per year in Spain. This has a major impact on the patient's quality of life and nearly doubles patient mortality. In addition, the disease generates sizeable costs for the country that may exceed 17.000 € per year per patient; costs will rise due to the ageing of the population and the new therapies employed. Healthcare professionals and administrators dedicate their efforts to providing quality care to patients. Despite the above, we still have a long way to go in order to provide quality, efficient, multidisciplinary, and universal healthcare

Unidades de gestión clínica en Neurociencias / Clinical management departments for the neurosciences

Introducción: Las unidades de gestión clínica de Neurociencias (UGC) representan una fórmula de organización de los hospitales basadas en la atención centrada en el pacientes y las fórmulas de gestión clínica y administración. Desarrollo: Los autores revisan la puesta en marcha y los distintos modelos de UGC en España, así como sus problemas de desarrollo, con especial mención a aquellas que tratan al paciente neurológico. Conclusiones: Las neurociencias, por la propia variabilidad y el coste del paciente neurológico, por la necesaria coordinación que debe existir en los servicios que lo asisten y, probablemente, por el propio dinamismo que tiene esta área de conocimiento, posiblemente ofrecen un marco conveniente para unidades que los integren. Las dificultades de implantación como de aceptación del nuevo modelo lo han limitado hasta la actualidad

Introduction: Neuroscience-related clinical management departments (UGC in Spanish) represent a means of organising hospitals to deliver patient-centred care as well as specific clinical and administrative management models. Development: The authors review the different UGC models in Spain and their implementation processes as well as any functional problems. We pay special attention to departments treating neurological patients. Conclusions: Neuroscience-related specialties may offer a good framework for the units that they contain. This may be due to the inherent variability and costs associated with neurological patients, the vital level of coordination that must be present between units providing care, and probably to the dynamic nature of the neurosciences as well. Difficulties associated with implementing and gaining acceptance for the new model have limited such UGCs until now

Clinical management departments for the neurosciences.

INTRODUCTION: Neuroscience-related clinical management departments (UGC in Spanish) represent a means of organising hospitals to deliver patient-centred care as well as specific clinical and administrative management models. DEVELOPMENT: The authors review the different UGC models in Spain and their implementation processes as well as any functional problems. We pay special attention to departments treating neurological patients. CONCLUSIONS: Neuroscience-related specialties may offer a good framework for the units that they contain. This may be due to the inherent variability and costs associated with neurological patients, the vital level of coordination that must be present between units providing care, and probably to the dynamic nature of the neurosciences as well. Difficulties associated with implementing and gaining acceptance for the new model have limited such UGCs until now.

The social impact of Parkinson's disease in Spain: Report by the Spanish Foundation for the Brain. / Informe de la Fundación del Cerebro sobre el impacto social de la enfermedad de Parkinson en España.

INTRODUCTION: Understanding the social and economic impact of Parkinson's disease is essential for resource planning and raising social awareness. DEVELOPMENT: Researchers reviewed the data published to date on epidemiology, morbidity and mortality, dependency, and economic impact of Parkinson's disease in Spain. In addition, a study has been carried out in order to define the public and private health care resources of Spanish patients affected by Parkinson's disease by means of an e-mail survey of all neurologists specialising in this disease and belonging to the Spanish Society of Neurology's study group for movement disorders. CONCLUSIONS: The incidence and prevalence rates of Parkinson's disease in Spain are similar to those in the rest of Europe. According to current population estimates, there are at least 300.000 patients with Parkinson's disease and one new case per 10.000 habitants per year in Spain. This has a major impact on the patient's quality of life and nearly doubles patient mortality. In addition, the disease generates sizeable costs for the country that may exceed 17.000€ per year per patient; costs will rise due to the ageing of the population and the new therapies employed. Healthcare professionals and administrators dedicate their efforts to providing quality care to patients. Despite the above, we still have a long way to go in order to provide quality, efficient, multidisciplinary, and universal healthcare.