PANDAS, variante del adulto / PANDAS, variant of the adult

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Síndrome 18q asociado a blefarospasmo / 18q syndrome associated with blepharospasm

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[Some reflections on the pathophysiology of abnormal movements]. / Algunas reflexiones sobre la patofisiología de los movimientos anormales.

INTRODUCTION: The field of abnormal movements is an area that is in continual expansion within Neurology and treatment is currently available for many of them, at least as far as the symptoms are concerned. Yet, the exact mechanisms of operation of the neurological structures involved in movement are not fully understood. DEVELOPMENT: It seems clear that the basal ganglia play an important role, fundamentally in pseudo-automatic movements, but because they are interconnected with many other structures it is difficult to gain a precise understanding of their individual functions. There are theories based solely on anatomical data, which are not enough to account for everything. The theory of the existence of neuronal circuits seems to explain a wider part of movement, although it still has a number of shortcomings. Another theory of movement disorders is that based on neurochemistry, according to which the imbalance of certain neurotransmitters would be the causation of the disease, but this theory does not enable us to explain all the pathologies related to movement either. A number of clinical observations and the use of animal models, however, have made it possible to draw up pathophysiological hypotheses about the generation of some abnormal movements. CONCLUSIONS: All these approaches have enabled researchers to find symptomatic treatments for certain diseases, but our knowledge of the pathophysiology involved is still far from complete and the chances of enhancing the therapeutic capacity available in such cases in the future are therefore immense.

Algunas reflexiones sobre la patofisiología de los movimientos anormales / Some reflections on the pathophysiology of abnormal movements

Introducción. El campo de los movimientos anormales esun área en continua expansión dentro de la Neurología, y existe enla actualidad tratamiento, al menos sintomático, para multitud deellos. Sin embargo, no está claro el mecanismo exacto de funcionamientode las estructuras neurológicas implicadas en el movimiento.Desarrollo. Parece cierto que los ganglios basales desempeñanun papel importante, fundamentalmente en los movimientos pseudoautomáticos,pero debido a que están interconectados con muchasotras estructuras es difícil conocer con precisión su función individual.Hay teorías basadas únicamente en datos anatómicos, que noson suficientes para explicar todo. La teoría de la existencia de circuitosneuronales parece explicar una parte más amplia del movimiento,aunque tampoco es completa. Otra teoría de los trastornosdel movimiento es aquella basada en la neuroquímica, según la cualel desequilibrio entre algunos neurotransmisores produciría laenfermedad; pero esta teoría tampoco permite explicar por completotoda la patología relacionada con el movimiento. Por otra parte,algunas observaciones clínicas y el uso de modelos animales hanpermitido elaborar hipótesis fisiopatológicas de la generación dealgunos movimientos anormales. Conclusión. Todas estas aproximacioneshan hecho posible encontrar algunos tratamientos sintomáticospara determinadas enfermedades, pero todavía el conocimientofisiopatológico está lejos de ser completo y, por tanto, lacapacidad terapéutica tiene grandes posibilidades de seguir mejorando

Introduction. The field of abnormal movements is an area that is in continual expansion within Neurology andtreatment is currently available for many of them, at least as far as the symptoms are concerned. Yet, the exact mechanisms ofoperation of the neurological structures involved in movement are not fully understood. Development. It seems clear that thebasal ganglia play an important role, fundamentally in pseudo-automatic movements, but because they are interconnected withmany other structures it is difficult to gain a precise understanding of their individual functions. There are theories based solelyon anatomical data, which are not enough to account for everything. The theory of the existence of neuronal circuits seems toexplain a wider part of movement, although it still has a number of shortcomings. Another theory of movement disorders is thatbased on neurochemistry, according to which the imbalance of certain neurotransmitters would be the causation of the disease,but this theory does not enable us to explain all the pathologies related to movement either. A number of clinical observations andthe use of animal models, however, have made it possible to draw up pathophysiological hypotheses about the generation of someabnormal movements. Conclusions. All these approaches have enabled researchers to find symptomatic treatments for certaindiseases, but our knowledge of the pathophysiology involved is still far from complete and the chances of enhancing thetherapeutic capacity available in such cases in the future are therefore immense

[New therapeutic options in Alzheimer's disease]. / Nuevas opciones terapéuticas en la enfermedad de Alzheimer.

INTRODUCTION: At present, cholinesterase inhibitors constitute the basis for therapy of Alzheimer's disease (AD); these drugs were rationally introduced given the loss of central cholinergic neurotransmission, even though there are many other systems affected in AD, including glutamatergic pathway. DEVELOPMENT: In addition to the loss of central cholinergic neurotransmission, biochemical evidence suggests glutamatergic dysfunction in AD and thus, therapeutic strategies directed at the glutamatergic system may be useful. These drugs include milacemide, cicloserine and ampakines (positive modulation) and memantine (negative modulation). Lithium seems to be a promising agent in AD, although the mechanism of action is poorly understood. Finally anti-inflammatory agents may be another therapeutic approach to AD. CONCLUSION: In addition to drugs acting on the cholinergic system, a large number of drugs with different mechanism could be used for the treatment and prevention of AD.

Nuevas opciones terapéuticas en la enfermedad de Alzheimer / New therapeutic options in Alzheimer’s disease

Introducción. En los últimos se han introducido fármacos eficaces para el tratamiento de la enfermedad de Alzheimer (EA). Los tratamientos disponibles, fundamentalmente inhibidores de la colinesterasa, se introdujeron con base racional en vista dela pérdida de neurotransmisión colinérgica en la EA. Sin embargo, la neuroquímica de la EA no se limita a un déficit colinérgico, puesto que existe disfunción de diversos sistemas de neurotransmisión, incluido el sistema glutamatérgico. Desarrollo. Además de fármacos que intervienen en el sistema colinérgico, existen posibilidades farmacológicas para modular positivamente el sistema aglutamatérgico, incluyendo la cicloserina, la milacemida y las ampakinas, y negativamente mediante la memantina. El litio es otro fármaco prometedor, aunque su mecanismo de acción sólo se conoce de forma parcial. Finalmente, cabe en lo posible que los analgésicos no esteroideos desempeñen un papel en la prevención y en etapas muy iniciales de la EA. Conclusiones. Además de los fármacos que actúan de forma directa sobre el sistema colinérgico, se están utilizando tratamientos relacionados con el sistema glutamatérgico y otros fármacos cuyo mecanismo de acción en esta patología no se conoce claramente, pero que parecen prometedores (AU)

Introduction. At present, cholinesterase inhibitors constitute the basis for therapy of Alzheimer’s disease (AD);these drugs were rationally introduced given the loss of central cholinergic neurotransmission, even though there are many other systems affected in AD, including glutamatergic pathway. Development. In addition to the loss of central cholinergic neurotransmission, biochemical evidence suggests glutamatergic dysfunction in AD and thus, therapeutic strategies directed at the glutamatergic system may be useful. These drugs include milacemide, cicloserine and ampakines (positive modulation)and memantine (negative modulation). Lithium seems to be a promising agent in AD, although the mechanism of action is poorly understood. Finally anti-inflammatory agents may be another therapeutic approach to AD. Conclusion. In addition to drugs acting on the cholinergic system, a large number of drugs with different mechanism could be used for the treatment and prevention of AD (AU)

Evolución a largo plazo de la dosis de toxina botulínica en las distonías laríngea y cervical / Long term evolution of the doses of botulinum toxin used in laryngeal and cervical distonias

Introduction. Dystonia is a neurological condition characterised by involuntary movements that give rise to abnormal postures. Different strategies have been used in the treatment of focal dystonias, but the most widely accepted at the present time involves the use of botulinum toxin type A (BTA) injections. Yet, despite its widespread use, the ideal dosages for long-term treatment are still not known with precision. Aims. The purpose of this study is to report on our experience with long-term BTA therapy in laryngeal (LD) and in cervical dystonia (CD). Patients and methods. We reviewed the data concerning the dosages of BTA injected in 10 patients with LD who received treatment in our centre over a period of eight years. We also analysed the data regarding the doses of BTA injected over an eight-year period in 17 patients with CD. The data were analysed using an ANOVA for paired data. Results. No significant differences were found in the highest dosages of BTA needed for the treatment of LD throughout the progression of the disease (p = 0.84). These data contrast with those obtained from the analysis of the treatment of CD, which do show a gradual increase in the dose of toxin that is required (p < 0.0001). Conclusions. These findings suggest that the long-term response to treatment is different in the two conditions (AU)

Introducción. La distonía es una entidad neurológica caracterizada por movimientos involuntarios que ocasionan posturas anómalas. En el tratamiento de las distonías focales se han utilizado diferentes estrategias, pero la más aceptada en la actualidad es la inyección de toxina botulínica de tipo A (TBA). Sin embargo, a pesar de su uso extendido, no se conoce con precisión cuáles son las dosis idóneas para el tratamiento a largo plazo. Objetivo. Mostrar nuestra experiencia en el tratamiento a largo plazo con TBA en la distonía laríngea (DL) y en la cervical (DC). Pacientes y métodos. Revisamos los datos correspondientes a las dosis de TBA inyectadas a 10 pacientes con DL tratados en nuestro centro durante ocho años, y analizamos los datos correspondientes a la dosis de toxina botulínica inyectada durante ocho años a 17 pacientes con DC. Analizamos los datos con el estadístico ANOVA para datos apareados. Resultados. No encontramos diferencias significativas en las dosis máximas autorizadas de TBA necesaria para el tratamiento de la DL a lo largo de la evolución de la enfermedad (p = 0,84). Estos datos contrastan con los obtenidos al analizar el tratamiento de la DC, en la que sí se observa un aumento gradual de la dosis necesaria de toxina (p < 0,0001). Conclusión. Estos hallazgos hacen pensar en una diferente respuesta a largo plazo al tratamiento en ambas entidades (AU)

[Long-term evolution of the doses of Botulinum toxin used in laryngeal and cervical dystonias]. / Evolución a largo plazo de la dosis de toxina botulínica en las distonías laringea y cervical

INTRODUCTION: Dystonia is a neurological condition characterised by involuntary movements that give rise to abnormal postures. Different strategies have been used in the treatment of focal dystonias, but the most widely accepted at the present time involves the use of botulinum toxin type A (BTA) injections. Yet, despite its widespread use, the ideal dosages for long-term treatment are still not known with precision. AIMS: The purpose of this study is to report on our experience with long-term BTA therapy in laryngeal (LD) and in cervical dystonia (CD). PATIENTS AND METHODS: We reviewed the data concerning the dosages of BTA injected in 10 patients with LD who received treatment in our centre over a period of eight years. We also analysed the data regarding the doses of BTA injected over an eight-year period in 17 patients with CD. The data were analysed using an ANOVA for paired data. RESULTS: No significant differences were found in the highest dosages of BTA needed for the treatment of LD throughout the progression of the disease (p=0.84). These data contrast with those obtained from the analysis of the treatment of CD, which do show a gradual increase in the dose of toxin that is required (p<0.0001). CONCLUSIONS: These findings suggest that the long-term response to treatment is different in the two conditions.

[Guidelines for the treatment of spasticity in adults using Botulinum toxin]. / Guía terapéutica de la espasticidad del adulto con toxina botulínica.

AIMS: The introduction of Botulinum toxin type A (BTA) in the treatment of spasticity in adults was a large step forward in neurology and it is currently seen as the first choice treatment in focal spasticity. In an attempt to achieve the optimisation of this therapeutic resource, different clinical guidelines have been drawn up which include reviews of the evidence available about the indications and use of BTA. Spasticity is characterised by the presence of involuntary muscular hyperactivity that is often associated to pain, deformity and functional disability. From the clinical point of view, the advantages of BTA are obvious (ease of use and dosage determination, long lasting effects, reversibility should the response be inappropriate, etc.) and far outweigh its drawbacks. It can only be used after a proper selection of patients, of the therapeutic aims and of the muscular areas to be treated, and a tailor-made programme of rehabilitation must also be drawn up. Increasing experience in its use suggests that its early administration is effective in preventing or reducing the complications arising from spasticity. CONCLUSIONS: BTA is effective in the treatment of spasticity and plays a significant role if the clinical objectives involve functional aspects. At present a large amount of well-documented experience concerning its indications, effects and safety in clinical practice is already available.

[Progression of botulinum toxin type A dosage in craniocervical dystonias. An eight year comparative study]. / Evolucion de la dosis de toxina botulinica tipo A en distonias craneocervicales. Estudio comparativo a lo largo de ocho años.

INTRODUCTION: Botulinum toxin type A (BTA) is currently the choice treatment for focal dystonias; yet long term response to therapy is still not known with total accuracy. PATIENTS AND METHODS: In this study we analysed the dose of BTA used in the first eight years' treatment of 17 patients with cervical dystonia and 16 patients with blepharospasm who received treatment at our hospital. RESULTS: It was found that in the patients with cervical dystonia there was a significant increase in the dosage of BTA (41%) which rose in a linear fashion from the fourth year onwards. On the other hand, in the group of patients with blepharospasm, the dosage of BTA tended to drop with time and this reduction (16%) occurred essentially during the first four years of treatment. CONCLUSIONS: These findings clearly highlight the clinical and functional differences between the two types of craniocervical dystonia.

[Spinocerebellar ataxia type 8: the case of a Spanish family]. / Ataxia espinocerebelosa tipo 8: presentación de una familia española.

INTRODUCTION: Dominant autosomic ataxias include a group of neurodegenerative diseases characterized by the abnormal expansion of triplets. CASE REPORT: Male aged 33, with expansion of the SCA 8 gene (100 repetitions), who presented a clinical picture compatible with a pancerebellar syndrome. The patient had been diagnosed 11 years earlier as suffering from previously of histiocytosis X. A clinico genetic study was conducted on the patient and several members of his family (parents and two sisters). Both sisters and the father were found to be carriers of the expansion (110 and 150 repetitions, respectively), and are currently asymptomatic. RESULTS AND DISCUSSION: There is no relation between the number of repetitions and the age of onset of the disease. The normal interval in our population oscillates between 16 37 repetitions, and the pathological interval has not been well determined. There may be a relation between the SCA 8 form and histiocytosis X.