Utilización de Duodopa en el paciente con enfermedad de Parkinson / Use of duodenal levodopa infusion therapy in advanced Parkinson's disease patients

El tratamiento con infusión continua de levodopa/carbidopa intraduodenal (Duodopa®) constituye una opción de tratamiento para pacientes con enfermedad de Parkinson (EP) avanzada que no responden de forma satisfactoria al tratamiento convencional. Publicaciones previas han reportado que Duodopa mejora las complicaciones motoras, síntomas no motores, calidad de vida y autonomía de los pacientes así como el grado de estrés y sobrecarga del cuidador. Asegura la mayoría de las veces la monoterapia evitando otros fármacos con efectos secundarios. Las complicaciones graves son excepcionales, mientras que las menores relacionadas con el estoma y el dispositivo son frecuentes. El presente trabajo revisa la evidencia científica existente sobre Duodopa y aspectos prácticos para el manejo de los pacientes con EP tratados con dicha terapia (AU)

The treatment with continuous intraduodenal levodopa/carbidopa infusion (Duodopa ®) is an option in the treatment of patients with advanced Parkinson's disease (PD) who do not respond satisfactorily to the conventional treatment. Earlier publications have reported that Duodopa improves the motor complications, non-motor symptoms, quality of life and autonomy of patients, as well as the level of stress and burden on caregivers. It can usually be administered in monotherapy, thus avoiding the need for other drugs with secondary effects. Severe complications are exceptional, while minor ones related with the stoma and the device are frequent. This work reviews the existing scientific evidence on Duodopa and practical aspects for the management of patients with PD treated with this therapy (AU)

Otros parkinsonismos de base genética: ataxias espinocerebelosas, síndrome temblor-ataxia asociado a premutación X frágil y xantomatosis cerebrotendinosa / Other genetically-based parkinsonisms: spinocerebellar ataxias, tremor-ataxia syndrome associated to fragile X premutation and cerebrotendinous xanthomatosis

Las ataxias espinocerebelosas autosómicas dominantes, el síndrome temblor-ataxia asociado a premutación X frágil y la xantomatosis cerebrotendinosa son enfermedades de base genética que cursan con manifestaciones neurológicas diversas. Aunque habitualmente no es el rasgo clínico principal, los trastornos extrapiramidales, incluido el parkinsonismo, pueden aparecer con frecuencia e intensidad variable. Durante las últimas décadas los avances en el campo de la genética molecular de han permitido profundizar en el conocimiento de estos trastornos. Realizamos una revisión sobre los aspectos etiopatogénicos, clínicos, neuropatológicos y diagnósticos de estas entidades (AU)

Autosomal dominant spinocerebellar ataxias, tremor-ataxia syndrome associated to fragile X premutation syndrome and cerebrotendinous xanthomatosis are diseases with a genetic base that are accompanied by diverse neurological manifestations. Although they are not usually the main clinical feature, extrapyramidal disorders, including parkinsonism, may appear with varying frequency and intensity. Over the last few decades, the progress made in the field of molecular genetics has enabled researchers to gain a deeper understanding of these disorders. We conduct a review of the aetiopathogenic, clinical, neuropathological and diagnostic aspects of these condition (AU)

[Rivastigmine in a case of autopsy proved frontotemporal dementia (Pick's disease)]. / Rivastigmina en un caso de demencia frontotemporal, enfermedad de Pick verificada por autopsia.

INTRODUCTION: Cholinesterase inhibitors are useful in the treatment of behavioural and psychological symptoms in Alzheimer's disease. Their effectiveness in frontotemporal dementia has not been proved, since such a claim has only been backed by the publication of one open-label trial in which the behavioural and psychological symptoms of the patients treated with rivastigmine over a 12-month period improved significantly with respect to those belonging to a group that were given a placebo. We report a case of frontotemporal dementia, Pick's disease, which improved with rivastigmine treatment. CASE REPORT: A 61-year-old male who presented a progressive clinical picture of behavioural disorders and executive-cognitive impairment that had begun two years earlier. Magnetic resonance imaging of the head revealed severe frontotemporal atrophy. Neuropsychological Inventory (NPI). Overall score 36/144 (6/12: anxiety, disinhibition and aberrant motor behaviour, 4/12: agitation, irritability and apathy; 3/12: sleep and eating disorders. After three months' treatment with rivastigmine, the overall score on the NPI was 10/144. This improvement remained stable over the months that followed. The patient died eight months later after developing liver cancer with metastasis. The microscopic study of the brain showed tau-positive neuronal inclusions, gliosis and neuronal loss. The inclusions were well-circumscribed Pick bodies, which were present in the frontal and temporal cortices and in the dentate gyrus of the hippocampus. CONCLUSIONS: This case confirms the idea that treatment with cholinesterase inhibitors can be effective in the behavioural and psychological symptoms of frontotemporal dementia.

Rivastigmina en un caso de demencia frontotemporal, enfermedad de Pick verificada por autopsia / Rivastigmine in a case of autopsy proved frontotemporal dementia (pick´s disease)

Introducción. Los inhibidores de la colinesterasa son útiles en el tratamiento de los síntomas conductuales y psicológicos en la enfermedad de Alzheimer. Su eficacia en la demencia frontotemporal no está demostrada, pues sólo la avala la publicación de un estudio abierto en el que los síntomas conductuales y psicológicos de los pacientes tratados con rivastigmina durante 12 meses mejoraron significativamente respecto de los del grupo placebo. Describimos un caso de demencia frontotemporal, enfermedad de Pick, que mejoró con el tratamiento con rivastigmina. Caso clínico. Varón de 61 años de edad que presentaba un cuadro clínico progresivo de alteraciones de conducta y afectación ejecutivocognitiva de dos años de evolución. En la resonancia magnética craneal se observó una atrofia frontotemporal grave. En el inventario neuropsicológico (NPI) alcanzó una puntuación global de 36/144 (6/12: ansiedad, desinhibición y conducta motora aberrante, 4/12: agitación, irritabilidad y apatía; 3/12: alteraciones del sueño y de la conducta alimentaria). Tras tres meses de tratamiento con rivastigmina, la puntuación global en el NPI fue de 10/144. Esta mejoría se mantuvo estable en los siguientes meses. Falleció ocho meses después tras desarrollar un hepatocarcinoma con metástasis. En el estudio microscópico del cerebro se observaron inclusiones neuronales tau positivas, pérdida neuronal y gliosis. Las inclusiones eran cuerpos de Pick, bien circunscritos, presentes en la corteza frontal, temporal y en el giro dentado del hipocampo. Conclusión. Este caso confirma que el tratamiento con inhibidores de la colinesterasa puede ser eficaz en los síntomas conductuales y psicológicos de demencia frontotemporal (AU)

Introduction. Cholinesterase inhibitors are useful in the treatment of behavioural and psychological symptoms in Alzheimer's disease. Their effectiveness in frontotemporal dementia has not been proved, since such a claim has only been backed by the publication of one open-label trial in which the behavioural and psychological symptoms of the patients treated with rivastigmine over a 12-month period improved significantly with respect to those belonging to a group that were given a placebo. We report a case of frontotemporal dementia, Pick’s disease, which improved with rivastigmine treatment. Case report. A 61-year-old male who presented a progressive clinical picture of behavioural disorders and executive-cognitive impairment that had begun two years earlier. Magnetic resonance imaging of the head revealed severe frontotemporal atrophy. Neuropsychological Inventory (NPI). Overall score 36/144 (6/12: anxiety, disinhibition and aberrant motor behaviour, 4/12: agitation, irritability and apathy; 3/12: sleep and eating disorders. After three months’ treatment with rivastigmine, the overall score on the NPI was 10/144. This improvement remained stable over the months that followed. The patient died eight months later after developing liver cancer with metastasis. The microscopic study of the brain showed tau-positive neuronal inclusions, gliosis and neuronal loss. The inclusions were well-circumscribed Pick bodies, which were present in the frontal and temporal cortices and in the dentate gyrus of the hippocampus. Conclusions. This case confirms the idea that treatment with cholinesterase inhibitors can be effective in the behavioural and psychological symptoms of frontotemporal dementia (AU)